Orphanet classification: Rare neurologic disease (ORPHA:98006)
Disorder type: Category
Subcategories and diseases:
Name: Recessive KLHL7-related disorder
OrphaCode: 603699
DisorderType: Clinical group
Children: Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like syndrome
OrphaCode: 603689
DisorderType: Malformation syndrome
Name: KLHL7-related Crisponi/cold-induced sweating-like syndrome
OrphaCode: 603694
DisorderType: Disease
Name: Spinal cord injury
OrphaCode: 90058
DisorderType: Particular clinical situation in a disease or syndrome
Name: USP18 deficiency
OrphaCode: 481665
DisorderType: Disease
Name: Moderate and severe traumatic brain injury
OrphaCode: 90056
DisorderType: Particular clinical situation in a disease or syndrome
Name: Secondary erythromelalgia
OrphaCode: 529864
DisorderType: Disease
Name: Balint syndrome
OrphaCode: 363746
DisorderType: Disease
Name: Persistent idiopathic facial pain
OrphaCode: 398147
DisorderType: Disease
Name: Rare autonomic nervous system disorder
OrphaCode: 423662
DisorderType: Category
Children: Name: Cramp-fasciculation syndrome
OrphaCode: 581271
DisorderType: Disease
Name: Congenital central hypoventilation syndrome
OrphaCode: 661
DisorderType: Disease
Name: Pure autonomic failure
OrphaCode: 441
DisorderType: Disease
Name: Chronic hiccup
OrphaCode: 396
DisorderType: Disease
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Harlequin syndrome
OrphaCode: 199282
DisorderType: Disease
Name: Baroreflex failure
OrphaCode: 443084
DisorderType: Clinical syndrome
Name: Rare epilepsy
OrphaCode: 101998
DisorderType: Category
Children: Name: Epilepsy syndrome
OrphaCode: 166463
DisorderType: Category
Children: Name: Infantile spasms-broad thumbs syndrome
OrphaCode: 3173
DisorderType: Disease
Name: Epilepsy-telangiectasia syndrome
OrphaCode: 1951
DisorderType: Disease
Name: Oculocerebrocutaneous syndrome
OrphaCode: 1647
DisorderType: Malformation syndrome
Name: Moynahan syndrome
OrphaCode: 2574
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: DEND syndrome
OrphaCode: 79134
DisorderType: Disease
Name: Neonatal epilepsy syndrome
OrphaCode: 98257
DisorderType: Category
Children: Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Early myoclonic encephalopathy
OrphaCode: 1935
DisorderType: Clinical syndrome
Name: Benign familial neonatal epilepsy
OrphaCode: 1949
DisorderType: Disease
Name: Benign idiopathic neonatal seizures
OrphaCode: 64545
DisorderType: Disease
Name: Severe neonatal-onset encephalopathy with microcephaly
OrphaCode: 209370
DisorderType: Disease
Name: Malignant migrating focal seizures of infancy
OrphaCode: 293181
DisorderType: Disease
Name: Epileptic encephalopathy with global cerebral demyelination
OrphaCode: 353217
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: Infantile epilepsy syndrome
OrphaCode: 98258
DisorderType: Category
Children: Name: Early-onset progressive encephalopathy with migrant continuous myoclonus
OrphaCode: 1943
DisorderType: Disease
Name: Infantile spasms syndrome
OrphaCode: 3451
DisorderType: Clinical syndrome
Name: Dravet syndrome
OrphaCode: 33069
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Idiopathic hemiconvulsion-hemiplegia syndrome
OrphaCode: 86908
DisorderType: Disease
Name: Myoclonic epilepsy of infancy
OrphaCode: 86909
DisorderType: Disease
Name: Myoclonic epilepsy in non-progressive encephalopathies
OrphaCode: 86913
DisorderType: Malformation syndrome
Name: Benign partial infantile seizures
OrphaCode: 166311
DisorderType: Clinical group
Children: Name: Familial or sporadic hemiplegic migraine
OrphaCode: 569
DisorderType: Disease
Name: Benign familial infantile epilepsy
OrphaCode: 306
DisorderType: Disease
Name: Infantile convulsions and choreoathetosis
OrphaCode: 31709
DisorderType: Disease
Name: Benign familial neonatal-infantile seizures
OrphaCode: 140927
DisorderType: Disease
Name: Benign non-familial infantile seizures
OrphaCode: 166295
DisorderType: Clinical group
Children: Name: Benign partial epilepsy of infancy with complex partial seizures
OrphaCode: 166299
DisorderType: Disease
Name: Benign partial epilepsy with secondarily generalized seizures in infancy
OrphaCode: 166302
DisorderType: Disease
Name: Benign infantile seizures associated with mild gastroenteritis
OrphaCode: 166305
DisorderType: Disease
Name: Benign infantile focal epilepsy with midline spikes and waves during sleep
OrphaCode: 166308
DisorderType: Disease
Name: Familial infantile myoclonic epilepsy
OrphaCode: 352582
DisorderType: Disease
Name: Progressive myoclonic epilepsy with dystonia
OrphaCode: 352596
DisorderType: Disease
Name: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
OrphaCode: 391316
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: SYNGAP1-related developmental and epileptic encephalopathy
OrphaCode: 544254
DisorderType: Disease
Name: Childhood-onset epilepsy syndrome
OrphaCode: 98259
DisorderType: Category
Children: Name: Lennox-Gastaut syndrome
OrphaCode: 2382
DisorderType: Disease
Name: Myoclonic-astatic epilepsy
OrphaCode: 1942
DisorderType: Disease
Name: Familial partial epilepsy
OrphaCode: 309
DisorderType: Clinical group
Children: Name: Juvenile absence epilepsy
OrphaCode: 1941
DisorderType: Disease
Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Familial temporal lobe epilepsy
OrphaCode: 98819
DisorderType: Disease
Name: Familial focal epilepsy with variable foci
OrphaCode: 98820
DisorderType: Disease
Name: Mesial temporal lobe epilepsy with hippocampal sclerosis
OrphaCode: 99701
DisorderType: Disease
Name: Autosomal dominant epilepsy with auditory features
OrphaCode: 101046
DisorderType: Disease
Name: Benign familial mesial temporal lobe epilepsy
OrphaCode: 163717
DisorderType: Disease
Name: Familial mesial temporal lobe epilepsy with febrile seizures
OrphaCode: 165805
DisorderType: Disease
Name: Reflex epilepsy
OrphaCode: 310
DisorderType: Clinical group
Children: Name: Photosensitive epilepsy
OrphaCode: 166409
DisorderType: Disease
Name: Hot water reflex epilepsy
OrphaCode: 166412
DisorderType: Disease
Name: Audiogenic seizures
OrphaCode: 166415
DisorderType: Disease
Name: Eating reflex epilepsy
OrphaCode: 166418
DisorderType: Disease
Name: Orgasm-induced seizures
OrphaCode: 166421
DisorderType: Disease
Name: Thinking seizures
OrphaCode: 166424
DisorderType: Disease
Name: Startle epilepsy
OrphaCode: 166427
DisorderType: Disease
Name: Micturation-induced seizures
OrphaCode: 166430
DisorderType: Disease
Name: Reading seizures
OrphaCode: 166433
DisorderType: Disease
Name: Continuous spikes and waves during sleep
OrphaCode: 725
DisorderType: Disease
Name: Benign occipital epilepsy
OrphaCode: 25968
DisorderType: Disease
Children: Name: Benign childhood occipital epilepsy, Panayiotopoulos type
OrphaCode: 98815
DisorderType: Clinical subtype
Name: Benign childhood occipital epilepsy, Gastaut type
OrphaCode: 98816
DisorderType: Clinical subtype
Name: Epilepsy with myoclonic absences
OrphaCode: 86911
DisorderType: Disease
Name: Progressive myoclonic epilepsy
OrphaCode: 98261
DisorderType: Clinical group
Children: Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Lafora disease
OrphaCode: 501
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 1
OrphaCode: 308
DisorderType: Disease
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: Familial encephalopathy with neuroserpin inclusion bodies
OrphaCode: 85110
DisorderType: Disease
Children: Name: Progressive dementia with neuroserpin inclusion bodies
OrphaCode: 530303
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy with neuroserpin inclusion bodies
OrphaCode: 530298
DisorderType: Clinical subtype
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 6
OrphaCode: 280620
DisorderType: Disease
Name: Early-onset Lafora body disease
OrphaCode: 324290
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 5
OrphaCode: 402082
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 8
OrphaCode: 424027
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 7
OrphaCode: 435438
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 9
OrphaCode: 457265
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OrphaCode: 2590
DisorderType: Disease
Name: Landau-Kleffner syndrome
OrphaCode: 98818
DisorderType: Disease
Name: Perioral myoclonia with absences
OrphaCode: 139426
DisorderType: Disease
Name: Epilepsy with eyelid myoclonia
OrphaCode: 139431
DisorderType: Disease
Name: Cryptogenic late-onset epileptic spasms
OrphaCode: 163708
DisorderType: Disease
Name: Rolandic epilepsy-speech dyspraxia syndrome
OrphaCode: 163721
DisorderType: Disease
Name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
OrphaCode: 163727
DisorderType: Disease
Name: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
OrphaCode: 289266
DisorderType: Disease
Name: Acute encephalopathy with inflammation-mediated status epilepticus
OrphaCode: 363567
DisorderType: Clinical group
Children: Name: Idiopathic hemiconvulsion-hemiplegia syndrome
OrphaCode: 86908
DisorderType: Disease
Name: Febrile infection-related epilepsy syndrome
OrphaCode: 163703
DisorderType: Disease
Name: Acute encephalopathy with biphasic seizures and late reduced diffusion
OrphaCode: 363549
DisorderType: Disease
Name: New-onset refractory status epilepticus
OrphaCode: 363558
DisorderType: Disease
Name: Adolescent-onset epilepsy syndrome
OrphaCode: 98260
DisorderType: Category
Children: Name: Familial partial epilepsy
OrphaCode: 309
DisorderType: Clinical group
Children: Name: Juvenile absence epilepsy
OrphaCode: 1941
DisorderType: Disease
Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Familial temporal lobe epilepsy
OrphaCode: 98819
DisorderType: Disease
Name: Familial focal epilepsy with variable foci
OrphaCode: 98820
DisorderType: Disease
Name: Mesial temporal lobe epilepsy with hippocampal sclerosis
OrphaCode: 99701
DisorderType: Disease
Name: Autosomal dominant epilepsy with auditory features
OrphaCode: 101046
DisorderType: Disease
Name: Benign familial mesial temporal lobe epilepsy
OrphaCode: 163717
DisorderType: Disease
Name: Familial mesial temporal lobe epilepsy with febrile seizures
OrphaCode: 165805
DisorderType: Disease
Name: Benign focal seizures of adolescence
OrphaCode: 1544
DisorderType: Disease
Name: Reflex epilepsy
OrphaCode: 310
DisorderType: Clinical group
Children: Name: Photosensitive epilepsy
OrphaCode: 166409
DisorderType: Disease
Name: Hot water reflex epilepsy
OrphaCode: 166412
DisorderType: Disease
Name: Audiogenic seizures
OrphaCode: 166415
DisorderType: Disease
Name: Eating reflex epilepsy
OrphaCode: 166418
DisorderType: Disease
Name: Orgasm-induced seizures
OrphaCode: 166421
DisorderType: Disease
Name: Thinking seizures
OrphaCode: 166424
DisorderType: Disease
Name: Startle epilepsy
OrphaCode: 166427
DisorderType: Disease
Name: Micturation-induced seizures
OrphaCode: 166430
DisorderType: Disease
Name: Reading seizures
OrphaCode: 166433
DisorderType: Disease
Name: Benign adult familial myoclonic epilepsy
OrphaCode: 86814
DisorderType: Disease
Name: Progressive myoclonic epilepsy
OrphaCode: 98261
DisorderType: Clinical group
Children: Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Lafora disease
OrphaCode: 501
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 1
OrphaCode: 308
DisorderType: Disease
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: Familial encephalopathy with neuroserpin inclusion bodies
OrphaCode: 85110
DisorderType: Disease
Children: Name: Progressive dementia with neuroserpin inclusion bodies
OrphaCode: 530303
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy with neuroserpin inclusion bodies
OrphaCode: 530298
DisorderType: Clinical subtype
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 6
OrphaCode: 280620
DisorderType: Disease
Name: Early-onset Lafora body disease
OrphaCode: 324290
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 5
OrphaCode: 402082
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 8
OrphaCode: 424027
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 7
OrphaCode: 435438
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 9
OrphaCode: 457265
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OrphaCode: 2590
DisorderType: Disease
Name: New-onset refractory status epilepticus
OrphaCode: 363558
DisorderType: Disease
Name: PEHO-like syndrome
OrphaCode: 99807
DisorderType: Disease
Name: CNTNAP2-related developmental and epileptic encephalopathy
OrphaCode: 163681
DisorderType: Disease
Name: Action myoclonus-renal failure syndrome
OrphaCode: 163696
DisorderType: Disease
Name: Intermediate DEND syndrome
OrphaCode: 99989
DisorderType: Disease
Name: STXBP1-related encephalopathy
OrphaCode: 599373
DisorderType: Disease
Name: Neurocutaneous syndrome with epilepsy
OrphaCode: 166466
DisorderType: Category
Children: Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Chromosomal anomaly with epilepsy as a major feature
OrphaCode: 166469
DisorderType: Category
Children: Name: Angelman syndrome
OrphaCode: 72
DisorderType: Malformation syndrome
Children: Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Angelman syndrome due to a point mutation
OrphaCode: 411511
DisorderType: Etiological subtype
Name: Angelman syndrome due to imprinting defect in 15q11-q13
OrphaCode: 411515
DisorderType: Etiological subtype
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Ring chromosome 20 syndrome
OrphaCode: 1444
DisorderType: Malformation syndrome
Name: Inverted duplicated chromosome 15 syndrome
OrphaCode: 3306
DisorderType: Malformation syndrome
Name: Ring chromosome 14 syndrome
OrphaCode: 1440
DisorderType: Malformation syndrome
Name: 1p36 deletion syndrome
OrphaCode: 1606
DisorderType: Malformation syndrome
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Kleefstra syndrome due to 9q34 microdeletion
OrphaCode: 96147
DisorderType: Etiological subtype
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Microduplication Xp11.22p11.23 syndrome
OrphaCode: 217377
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: 2q23.1 microdeletion syndrome
OrphaCode: 228402
DisorderType: Malformation syndrome
Name: Monogenic disease with epilepsy
OrphaCode: 166472
DisorderType: Category
Children: Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Autosomal dominant hypocalcemia
OrphaCode: 428
DisorderType: Clinical subtype
Name: Rett syndrome
OrphaCode: 778
DisorderType: Disease
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: X-linked intellectual disability-epilepsy syndrome
OrphaCode: 2076
DisorderType: Clinical group
Children: Name: X-linked intellectual disability, Hedera type
OrphaCode: 93952
DisorderType: Disease
Name: Female restricted epilepsy with intellectual disability
OrphaCode: 101039
DisorderType: Disease
Name: Hyperekplexia-epilepsy syndrome
OrphaCode: 163985
DisorderType: Disease
Name: Atypical Rett syndrome
OrphaCode: 3095
DisorderType: Disease
Name: KDM5C-related syndromic X-linked intellectual disability
OrphaCode: 85279
DisorderType: Malformation syndrome
Name: X-linked epilepsy-learning disabilities-behavior disorders syndrome
OrphaCode: 85294
DisorderType: Disease
Name: ARX-related epileptic encephalopathy
OrphaCode: 182079
DisorderType: Clinical group
Children: Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Infantile spasms syndrome
OrphaCode: 3451
DisorderType: Clinical syndrome
Name: X-linked spasticity-intellectual disability-epilepsy syndrome
OrphaCode: 3175
DisorderType: Disease
Name: Partington syndrome
OrphaCode: 94083
DisorderType: Malformation syndrome
Name: Infantile epileptic-dyskinetic encephalopathy
OrphaCode: 364063
DisorderType: Disease
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Channelopathy with epilepsy
OrphaCode: 182083
DisorderType: Category
Children: Name: Familial partial epilepsy
OrphaCode: 309
DisorderType: Clinical group
Children: Name: Juvenile absence epilepsy
OrphaCode: 1941
DisorderType: Disease
Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Familial temporal lobe epilepsy
OrphaCode: 98819
DisorderType: Disease
Name: Familial focal epilepsy with variable foci
OrphaCode: 98820
DisorderType: Disease
Name: Mesial temporal lobe epilepsy with hippocampal sclerosis
OrphaCode: 99701
DisorderType: Disease
Name: Autosomal dominant epilepsy with auditory features
OrphaCode: 101046
DisorderType: Disease
Name: Benign familial mesial temporal lobe epilepsy
OrphaCode: 163717
DisorderType: Disease
Name: Familial mesial temporal lobe epilepsy with febrile seizures
OrphaCode: 165805
DisorderType: Disease
Name: Dravet syndrome
OrphaCode: 33069
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Malignant migrating focal seizures of infancy
OrphaCode: 293181
DisorderType: Disease
Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Thiamine-responsive encephalopathy
OrphaCode: 199348
DisorderType: Disease
Name: Severe neonatal-onset encephalopathy with microcephaly
OrphaCode: 209370
DisorderType: Disease
Name: Familial infantile myoclonic epilepsy
OrphaCode: 352582
DisorderType: Disease
Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
OrphaCode: 352587
DisorderType: Disease
Name: Progressive myoclonic epilepsy with dystonia
OrphaCode: 352596
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
OrphaCode: 391316
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
OrphaCode: 411986
DisorderType: Malformation syndrome
Name: Lethal neonatal spasticity-epileptic encephalopathy syndrome
OrphaCode: 435845
DisorderType: Malformation syndrome
Name: KCNQ2-related epileptic encephalopathy
OrphaCode: 439218
DisorderType: Disease
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: FOXG1 syndrome
OrphaCode: 561854
DisorderType: Disease
Children: Name: FOXG1 syndrome due to intragenic alteration
OrphaCode: 598164
DisorderType: Clinical subtype
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
OrphaCode: 564178
DisorderType: Disease
Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
OrphaCode: 464282
DisorderType: Disease
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
OrphaCode: 500545
DisorderType: Disease
Name: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
OrphaCode: 500533
DisorderType: Disease
Name: CDKL5-deficiency disorder
OrphaCode: 505652
DisorderType: Disease
Name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
OrphaCode: 505237
DisorderType: Malformation syndrome
Name: Episodic ataxia type 1
OrphaCode: 37612
DisorderType: Disease
Name: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
OrphaCode: 488613
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Pitt-Hopkins syndrome
OrphaCode: 2896
DisorderType: Malformation syndrome
Name: Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
OrphaCode: 397933
DisorderType: Disease
Name: Rare non-syndromic intellectual disability
OrphaCode: 101685
DisorderType: Disease
Children: Name: X-linked non-syndromic intellectual disability
OrphaCode: 777
DisorderType: Etiological subtype
Name: Autosomal recessive non-syndromic intellectual disability
OrphaCode: 88616
DisorderType: Etiological subtype
Name: Autosomal dominant non-syndromic intellectual disability
OrphaCode: 178469
DisorderType: Etiological subtype
Name: GNAO1-related developmental delay-seizures-movement disorder spectrum
OrphaCode: 592564
DisorderType: Disease
Name: Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
OrphaCode: 166475
DisorderType: Category
Children: Name: Familial partial epilepsy
OrphaCode: 309
DisorderType: Clinical group
Children: Name: Juvenile absence epilepsy
OrphaCode: 1941
DisorderType: Disease
Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Rolandic epilepsy
OrphaCode: 1945
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Childhood absence epilepsy
OrphaCode: 64280
DisorderType: Disease
Name: Generalized epilepsy-paroxysmal dyskinesia syndrome
OrphaCode: 79137
DisorderType: Disease
Name: Autosomal dominant nocturnal frontal lobe epilepsy
OrphaCode: 98784
DisorderType: Disease
Name: Familial temporal lobe epilepsy
OrphaCode: 98819
DisorderType: Disease
Name: Familial focal epilepsy with variable foci
OrphaCode: 98820
DisorderType: Disease
Name: Mesial temporal lobe epilepsy with hippocampal sclerosis
OrphaCode: 99701
DisorderType: Disease
Name: Autosomal dominant epilepsy with auditory features
OrphaCode: 101046
DisorderType: Disease
Name: Benign familial mesial temporal lobe epilepsy
OrphaCode: 163717
DisorderType: Disease
Name: Familial mesial temporal lobe epilepsy with febrile seizures
OrphaCode: 165805
DisorderType: Disease
Name: Benign familial infantile epilepsy
OrphaCode: 306
DisorderType: Disease
Name: Benign familial neonatal-infantile seizures
OrphaCode: 140927
DisorderType: Disease
Name: Cerebral malformation with epilepsy
OrphaCode: 166478
DisorderType: Category
Children: Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Schizencephaly
OrphaCode: 799
DisorderType: Disease
Children: Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: Acquired schizencephaly
OrphaCode: 485275
DisorderType: Etiological subtype
Name: Porencephaly
OrphaCode: 2940
DisorderType: Disease
Children: Name: Familial porencephaly
OrphaCode: 99810
DisorderType: Etiological subtype
Name: Acquired porencephaly
OrphaCode: 314697
DisorderType: Etiological subtype
Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Microlissencephaly-micromelia syndrome
OrphaCode: 50810
DisorderType: Malformation syndrome
Name: Hypothalamic hamartomas with gelastic seizures
OrphaCode: 86906
DisorderType: Disease
Name: Hemimegalencephaly
OrphaCode: 99802
DisorderType: Malformation syndrome
Name: Non-syndromic cerebral malformation due to abnormal neuronal migration
OrphaCode: 163209
DisorderType: Category
Children: Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Subcortical band heterotopia
OrphaCode: 99796
DisorderType: Morphological anomaly
Name: Cerebral cortical dysplasia
OrphaCode: 268950
DisorderType: Clinical group
Children: Name: Isolated focal cortical dysplasia
OrphaCode: 65683
DisorderType: Disease
Children: Name: Isolated focal cortical dysplasia type I
OrphaCode: 268961
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type Ia
OrphaCode: 268973
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ib
OrphaCode: 268980
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ic
OrphaCode: 268987
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type II
OrphaCode: 268994
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type IIa
OrphaCode: 269001
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type IIb
OrphaCode: 269008
DisorderType: Histopathological subtype
Name: Occipital pachygyria and polymicrogyria
OrphaCode: 280640
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: Autosomal recessive frontotemporal pachygyria
OrphaCode: 329329
DisorderType: Malformation syndrome
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OrphaCode: 306558
DisorderType: Disease
Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
OrphaCode: 352587
DisorderType: Disease
Name: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
OrphaCode: 401959
DisorderType: Malformation syndrome
Name: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
OrphaCode: 404437
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: Non-syndromic pontocerebellar hypoplasia
OrphaCode: 98523
DisorderType: Clinical group
Children: Name: Pontocerebellar hypoplasia type 2
OrphaCode: 2524
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 1
OrphaCode: 2254
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 3
OrphaCode: 97249
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 4
OrphaCode: 166063
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 6
OrphaCode: 166073
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 8
OrphaCode: 324569
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 9
OrphaCode: 369920
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 12
OrphaCode: 611256
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Metabolic diseases with epilepsy
OrphaCode: 166481
DisorderType: Category
Children: Name: Lysosomal disease with epilepsy
OrphaCode: 225681
DisorderType: Category
Children: Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Free sialic acid storage disease
OrphaCode: 834
DisorderType: Disease
Children: Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: Intermediate severe Salla disease
OrphaCode: 309331
DisorderType: Clinical subtype
Name: Salla disease
OrphaCode: 309334
DisorderType: Clinical subtype
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Sphingolipidosis with epilepsy
OrphaCode: 371442
DisorderType: Category
Children: Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Encephalopathy due to prosaposin deficiency
OrphaCode: 139406
DisorderType: Disease
Name: Gangliosidosis
OrphaCode: 309144
DisorderType: Category
Children: Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: GM2 gangliosidosis
OrphaCode: 309152
DisorderType: Clinical group
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: GM2 gangliosidosis, AB variant
OrphaCode: 309246
DisorderType: Disease
Name: Peroxisomal disease with epilepsy
OrphaCode: 225686
DisorderType: Category
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Peroxisomal acyl-CoA oxidase deficiency
OrphaCode: 2971
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Amino acid or protein metabolism disease with epilepsy
OrphaCode: 225689
DisorderType: Category
Children: Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Phenylketonuria
OrphaCode: 716
DisorderType: Disease
Children: Name: Mild phenylketonuria
OrphaCode: 79253
DisorderType: Clinical subtype
Name: Classic phenylketonuria
OrphaCode: 79254
DisorderType: Clinical subtype
Name: Mild hyperphenylalaninemia
OrphaCode: 79651
DisorderType: Clinical subtype
Name: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
OrphaCode: 293284
DisorderType: Clinical subtype
Name: 2-hydroxyglutaric aciduria
OrphaCode: 19
DisorderType: Clinical group
Children: Name: L-2-hydroxyglutaric aciduria
OrphaCode: 79314
DisorderType: Disease
Name: D-2-hydroxyglutaric aciduria
OrphaCode: 79315
DisorderType: Disease
Name: D,L-2-hydroxyglutaric aciduria
OrphaCode: 356978
DisorderType: Disease
Name: Glycine encephalopathy
OrphaCode: 407
DisorderType: Disease
Children: Name: Neonatal glycine encephalopathy
OrphaCode: 289857
DisorderType: Clinical subtype
Name: Infantile glycine encephalopathy
OrphaCode: 289860
DisorderType: Clinical subtype
Name: Atypical glycine encephalopathy
OrphaCode: 289863
DisorderType: Clinical subtype
Name: Hyperprolinemia type 1
OrphaCode: 419
DisorderType: Disease
Name: Hyperprolinemia type 2
OrphaCode: 79101
DisorderType: Disease
Name: 2-methylbutyryl-CoA dehydrogenase deficiency
OrphaCode: 79157
DisorderType: Disease
Name: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
OrphaCode: 308410
DisorderType: Disease
Name: Hyper-beta-alaninemia
OrphaCode: 309147
DisorderType: Disease
Name: Neonatal epileptic encephalopathy due to glutaminase deficiency
OrphaCode: 557064
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 9
OrphaCode: 505216
DisorderType: Disease
Name: Metal transport or utilization disorder with epilepsy
OrphaCode: 225692
DisorderType: Category
Children: Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Energy metabolism disorder with epilepsy
OrphaCode: 225696
DisorderType: Category
Children: Name: Triose phosphate-isomerase deficiency
OrphaCode: 868
DisorderType: Disease
Name: Glutaric acidemia type 3
OrphaCode: 35706
DisorderType: Disease
Name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OrphaCode: 71212
DisorderType: Disease
Name: Creatine deficiency syndrome
OrphaCode: 79172
DisorderType: Clinical group
Children: Name: Guanidinoacetate methyltransferase deficiency
OrphaCode: 382
DisorderType: Disease
Name: L-Arginine:glycine amidinotransferase deficiency
OrphaCode: 35704
DisorderType: Disease
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: Mitochondrial disease with epilepsy
OrphaCode: 225700
DisorderType: Category
Children: Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Pyruvate dehydrogenase deficiency
OrphaCode: 765
DisorderType: Disease
Children: Name: Pyruvate dehydrogenase E3 deficiency
OrphaCode: 2394
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-alpha deficiency
OrphaCode: 79243
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E2 deficiency
OrphaCode: 79244
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase phosphatase deficiency
OrphaCode: 79246
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-beta deficiency
OrphaCode: 255138
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E3-binding protein deficiency
OrphaCode: 255182
DisorderType: Clinical subtype
Name: Oxoglutaric aciduria
OrphaCode: 31
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Fumaric aciduria
OrphaCode: 24
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Coenzyme Q10 deficiency
OrphaCode: 35656
DisorderType: Clinical group
Children: Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
OrphaCode: 254898
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
OrphaCode: 70595
DisorderType: Disease
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Lipoyl transferase 2 deficiency
OrphaCode: 447795
DisorderType: Biological anomaly
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
Name: Lipoic acid synthetase deficiency
OrphaCode: 401859
DisorderType: Disease
Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: Metabolic neurotransmission anomaly with epilepsy
OrphaCode: 225707
DisorderType: Category
Children: Name: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
OrphaCode: 675775
DisorderType: Disease
Name: Succinic semialdehyde dehydrogenase deficiency
OrphaCode: 22
DisorderType: Disease
Name: Pyridoxine-dependent epilepsy
OrphaCode: 3006
DisorderType: Disease
Name: Gamma-aminobutyric acid transaminase deficiency
OrphaCode: 2066
DisorderType: Disease
Name: Beta-ureidopropionase deficiency
OrphaCode: 65287
DisorderType: Disease
Name: Pyridoxal phosphate-responsive seizures
OrphaCode: 79096
DisorderType: Disease
Name: Metabolic disease involving other neurotransmitter deficiency
OrphaCode: 79219
DisorderType: Category
Children: Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: Folinic acid-responsive seizures
OrphaCode: 79097
DisorderType: Disease
Name: Hereditary butyrylcholinesterase deficiency
OrphaCode: 132
DisorderType: Disease
Name: Sterol metabolism disorder with epilepsy
OrphaCode: 225710
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Other metabolic disease with epilepsy
OrphaCode: 225713
DisorderType: Category
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Classic glucose transporter type 1 deficiency syndrome
OrphaCode: 71277
DisorderType: Disease
Name: Constitutional megaloblastic anemia with severe neurologic disease
OrphaCode: 319651
DisorderType: Disease
Name: Adenylosuccinate lyase deficiency
OrphaCode: 46
DisorderType: Disease
Name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
OrphaCode: 480864
DisorderType: Disease
Name: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
OrphaCode: 457375
DisorderType: Disease
Name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
OrphaCode: 395
DisorderType: Disease
Name: Neurodegenerative syndrome due to cerebral folate transport deficiency
OrphaCode: 217382
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: Congenital disorder of glycosylation with epilepsy as a major feature
OrphaCode: 371071
DisorderType: Category
Children: Name: DPM1-CDG
OrphaCode: 79322
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG1-CDG
OrphaCode: 79327
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
OrphaCode: 83639
DisorderType: Disease
Name: DPAGT1-CDG
OrphaCode: 86309
DisorderType: Disease
Name: COG8-CDG
OrphaCode: 95428
DisorderType: Disease
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: ALG11-CDG
OrphaCode: 280071
DisorderType: Disease
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: STT3A-CDG
OrphaCode: 370921
DisorderType: Disease
Name: STT3B-CDG
OrphaCode: 370924
DisorderType: Disease
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: ALG6-CDG
OrphaCode: 79320
DisorderType: Disease
Name: ALG3-CDG
OrphaCode: 79321
DisorderType: Disease
Name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
OrphaCode: 488635
DisorderType: Disease
Name: Seizures-scoliosis-macrocephaly syndrome
OrphaCode: 466926
DisorderType: Disease
Name: Inflammatory and autoimmune disease with epilepsy
OrphaCode: 166484
DisorderType: Category
Children: Name: Behçet disease
OrphaCode: 117
DisorderType: Disease
Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: Granulomatosis with polyangiitis
OrphaCode: 900
DisorderType: Disease
Name: Progressive hemifacial atrophy
OrphaCode: 1214
DisorderType: Disease
Name: Celiac disease-epilepsy-cerebral calcification syndrome
OrphaCode: 1459
DisorderType: Disease
Name: Rasmussen subacute encephalitis
OrphaCode: 1929
DisorderType: Disease
Name: Morvan syndrome
OrphaCode: 83467
DisorderType: Disease
Name: Pediatric systemic lupus erythematosus
OrphaCode: 93552
DisorderType: Disease
Name: Acute encephalopathy with inflammation-mediated status epilepticus
OrphaCode: 363567
DisorderType: Clinical group
Children: Name: Idiopathic hemiconvulsion-hemiplegia syndrome
OrphaCode: 86908
DisorderType: Disease
Name: Febrile infection-related epilepsy syndrome
OrphaCode: 163703
DisorderType: Disease
Name: Acute encephalopathy with biphasic seizures and late reduced diffusion
OrphaCode: 363549
DisorderType: Disease
Name: New-onset refractory status epilepticus
OrphaCode: 363558
DisorderType: Disease
Name: Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
OrphaCode: 624166
DisorderType: Disease
Name: Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
OrphaCode: 624178
DisorderType: Disease
Name: Cerebral diseases of vascular origin with epilepsy
OrphaCode: 166487
DisorderType: Category
Children: Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: Infectious disease with epilepsy
OrphaCode: 166490
DisorderType: Category
Children: Name: Congenital rubella syndrome
OrphaCode: 290
DisorderType: Disease
Name: Congenital toxoplasmosis
OrphaCode: 858
DisorderType: Disease
Name: Subacute sclerosing leukoencephalitis
OrphaCode: 2806
DisorderType: Disease
Name: Fetal cytomegalovirus syndrome
OrphaCode: 294
DisorderType: Disease
Name: Herpes simplex virus encephalitis
OrphaCode: 1930
DisorderType: Disease
Name: Tick-borne encephalitis
OrphaCode: 297
DisorderType: Disease
Name: Meningococcal meningitis
OrphaCode: 33475
DisorderType: Disease
Name: Pneumococcal meningitis
OrphaCode: 55655
DisorderType: Disease
Name: Japanese encephalitis
OrphaCode: 79139
DisorderType: Disease
Name: West-Nile encephalitis
OrphaCode: 83476
DisorderType: Disease
Name: Mycoplasma encephalitis
OrphaCode: 83482
DisorderType: Disease
Name: La Crosse encephalitis
OrphaCode: 83483
DisorderType: Disease
Name: St. Louis encephalitis
OrphaCode: 83484
DisorderType: Disease
Name: Western equine encephalitis
OrphaCode: 83593
DisorderType: Disease
Name: Eastern equine encephalitis
OrphaCode: 83594
DisorderType: Disease
Name: Colorado tick fever
OrphaCode: 83595
DisorderType: Disease
Name: Acute disseminated encephalomyelitis
OrphaCode: 83597
DisorderType: Disease
Children: Name: Acute disseminated encephalomyelitis with anti-MOG antibodies
OrphaCode: 592894
DisorderType: Clinical subtype
Name: Acute disseminated encephalomyelitis without anti-MOG antibodies
OrphaCode: 592900
DisorderType: Clinical subtype
Name: Encephalitis lethargica
OrphaCode: 83600
DisorderType: Disease
Name: Rubella panencephalitis
OrphaCode: 83616
DisorderType: Disease
Name: Klüver-Bucy syndrome
OrphaCode: 157823
DisorderType: Clinical syndrome
Name: Borna virus encephalitis
OrphaCode: 637051
DisorderType: Disease
Name: Medullar disease
OrphaCode: 102000
DisorderType: Category
Children: Name: Acute flaccid myelitis
OrphaCode: 623801
DisorderType: Disease
Name: Primary basilar invagination
OrphaCode: 2285
DisorderType: Morphological anomaly
Name: Ataxia-pancytopenia syndrome
OrphaCode: 2585
DisorderType: Malformation syndrome
Name: Syringomyelia
OrphaCode: 3280
DisorderType: Clinical group
Children: Name: Primary syringomyelia
OrphaCode: 99856
DisorderType: Morphological anomaly
Children: Name: Idiopathic syringomyelia
OrphaCode: 99858
DisorderType: Clinical subtype
Name: Familial syringomyelia
OrphaCode: 370034
DisorderType: Clinical subtype
Name: Secondary syringomyelia
OrphaCode: 99857
DisorderType: Disease
Name: Congenital cervical spinal stenosis
OrphaCode: 831
DisorderType: Disease
Name: Radiation myelitis
OrphaCode: 90021
DisorderType: Disease
Name: Acute transverse myelitis
OrphaCode: 139417
DisorderType: Disease
Children: Name: Acute transverse myelitis with anti-MOG antibodies
OrphaCode: 592873
DisorderType: Clinical subtype
Name: Idiopathic acute transverse myelitis
OrphaCode: 139423
DisorderType: Clinical subtype
Name: Rare ataxia
OrphaCode: 102002
DisorderType: Category
Children: Name: Hereditary ataxia
OrphaCode: 183518
DisorderType: Category
Children: Name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
OrphaCode: 502423
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia
OrphaCode: 99
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia type I
OrphaCode: 94145
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 19/22
OrphaCode: 98772
DisorderType: Disease
Name: Spinocerebellar ataxia type 21
OrphaCode: 98773
DisorderType: Disease
Name: Spinocerebellar ataxia type 23
OrphaCode: 101108
DisorderType: Disease
Name: Spinocerebellar ataxia type 28
OrphaCode: 101109
DisorderType: Disease
Name: Spinocerebellar ataxia type 20
OrphaCode: 101110
DisorderType: Disease
Name: Spinocerebellar ataxia type 25
OrphaCode: 101111
DisorderType: Disease
Name: Spinocerebellar ataxia type 29
OrphaCode: 208513
DisorderType: Disease
Name: Spinocerebellar ataxia type 32
OrphaCode: 276183
DisorderType: Disease
Name: Spinocerebellar ataxia type 35
OrphaCode: 276193
DisorderType: Disease
Name: Spinocerebellar ataxia type 36
OrphaCode: 276198
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Non-progressive cerebellar ataxia with intellectual disability
OrphaCode: 314647
DisorderType: Disease
Name: Spinocerebellar ataxia type 37
OrphaCode: 363710
DisorderType: Disease
Name: Spinocerebellar ataxia type 40
OrphaCode: 423275
DisorderType: Disease
Name: Spinocerebellar ataxia type 34
OrphaCode: 1955
DisorderType: Disease
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Spinocerebellar ataxia type 3
OrphaCode: 98757
DisorderType: Disease
Children: Name: Machado-Joseph disease type 1
OrphaCode: 276238
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 2
OrphaCode: 276241
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 3
OrphaCode: 276244
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Spinocerebellar ataxia type 8
OrphaCode: 98760
DisorderType: Disease
Name: Spinocerebellar ataxia type 12
OrphaCode: 98762
DisorderType: Disease
Name: Spinocerebellar ataxia type 14
OrphaCode: 98763
DisorderType: Disease
Name: Spinocerebellar ataxia type 27
OrphaCode: 98764
DisorderType: Disease
Name: Spinocerebellar ataxia type 4
OrphaCode: 98765
DisorderType: Disease
Name: Spinocerebellar ataxia type 13
OrphaCode: 98768
DisorderType: Disease
Name: Spinocerebellar ataxia type 15/16
OrphaCode: 98769
DisorderType: Disease
Name: Spinocerebellar ataxia type 18
OrphaCode: 98771
DisorderType: Disease
Name: Spinocerebellar ataxia type 43
OrphaCode: 497764
DisorderType: Disease
Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Spinocerebellar ataxia type 46
OrphaCode: 589522
DisorderType: Disease
Name: Spinocerebellar ataxia type 48
OrphaCode: 631103
DisorderType: Disease
Name: Spinocerebellar ataxia type 27B
OrphaCode: 675216
DisorderType: Disease
Name: Spinocerebellar ataxia type 49
OrphaCode: 631106
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type III
OrphaCode: 94148
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 45
OrphaCode: 589527
DisorderType: Disease
Name: Spinocerebellar ataxia type 44
OrphaCode: 631095
DisorderType: Disease
Name: Spinocerebellar ataxia type 6
OrphaCode: 98758
DisorderType: Disease
Name: Spinocerebellar ataxia type 5
OrphaCode: 98766
DisorderType: Disease
Name: Spinocerebellar ataxia type 11
OrphaCode: 98767
DisorderType: Disease
Name: Spinocerebellar ataxia type 26
OrphaCode: 101112
DisorderType: Disease
Name: Spinocerebellar ataxia type 30
OrphaCode: 211017
DisorderType: Disease
Name: Spinocerebellar ataxia type 31
OrphaCode: 217012
DisorderType: Disease
Name: Spinocerebellar ataxia type 38
OrphaCode: 423296
DisorderType: Disease
Name: Spinocerebellar ataxia type 41
OrphaCode: 458798
DisorderType: Disease
Name: Spinocerebellar ataxia type 42
OrphaCode: 458803
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type IV
OrphaCode: 94149
DisorderType: Clinical group
Children: Name: Dentatorubral pallidoluysian atrophy
OrphaCode: 101
DisorderType: Disease
Name: Spinocerebellar ataxia type 10
OrphaCode: 98761
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type II
OrphaCode: 208508
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 7
OrphaCode: 94147
DisorderType: Disease
Name: PUM1-related cerebellar ataxia
OrphaCode: 642747
DisorderType: Disease
Name: Ataxia-tapetoretinal degeneration syndrome
OrphaCode: 1178
DisorderType: Disease
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Spinocerebellar ataxia-dysmorphism syndrome
OrphaCode: 1185
DisorderType: Disease
Name: Cataract-ataxia-deafness syndrome
OrphaCode: 1368
DisorderType: Disease
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
OrphaCode: 2274
DisorderType: Disease
Name: Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
OrphaCode: 2579
DisorderType: Disease
Name: Myoclonus-cerebellar ataxia-deafness syndrome
OrphaCode: 2589
DisorderType: Malformation syndrome
Name: Spinocerebellar degeneration-corneal dystrophy syndrome
OrphaCode: 3177
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebellar ataxia
OrphaCode: 1172
DisorderType: Category
Children: Name: Autosomal recessive ataxia, Beauce type
OrphaCode: 88644
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia
OrphaCode: 98095
DisorderType: Category
Children: Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Dysequilibrium syndrome
OrphaCode: 1766
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Cerebellar ataxia, Cayman type
OrphaCode: 94122
DisorderType: Disease
Name: Joubert syndrome and related disorders
OrphaCode: 140874
DisorderType: Category
Children: Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
OrphaCode: 453521
DisorderType: Disease
Name: Congenital cerebellar ataxia due to RNU12 mutation
OrphaCode: 512260
DisorderType: Disease
Name: Autosomal recessive metabolic cerebellar ataxia
OrphaCode: 98096
DisorderType: Category
Children: Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Recessive mitochondrial ataxia syndrome
OrphaCode: 94125
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
OrphaCode: 352641
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
OrphaCode: 363429
DisorderType: Disease
Children: Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to a DNA repair defect
OrphaCode: 98097
DisorderType: Category
Children: Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 1
OrphaCode: 94124
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Autosomal recessive degenerative and progressive cerebellar ataxia
OrphaCode: 98098
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Early-onset cerebellar ataxia with retained tendon reflexes
OrphaCode: 1177
DisorderType: Disease
Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Posterior column ataxia-retinitis pigmentosa syndrome
OrphaCode: 88628
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Autosomal recessive syndromic cerebellar ataxia
OrphaCode: 98099
DisorderType: Category
Children: Name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
OrphaCode: 95434
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
OrphaCode: 284271
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Adult-onset autosomal recessive cerebellar ataxia
OrphaCode: 284289
DisorderType: Disease
Name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
OrphaCode: 284324
DisorderType: Disease
Name: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
OrphaCode: 284332
DisorderType: Disease
Name: Spectrin-associated autosomal recessive cerebellar ataxia
OrphaCode: 352403
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OrphaCode: 412057
DisorderType: Disease
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Hereditary episodic ataxia
OrphaCode: 211062
DisorderType: Category
Children: Name: Familial paroxysmal ataxia
OrphaCode: 97
DisorderType: Disease
Name: Episodic ataxia type 1
OrphaCode: 37612
DisorderType: Disease
Name: Episodic ataxia type 3
OrphaCode: 79135
DisorderType: Disease
Name: Episodic ataxia type 4
OrphaCode: 79136
DisorderType: Disease
Name: Episodic ataxia type 6
OrphaCode: 209967
DisorderType: Disease
Name: Episodic ataxia type 7
OrphaCode: 209970
DisorderType: Disease
Name: Episodic ataxia type 5
OrphaCode: 211067
DisorderType: Disease
Name: Episodic ataxia with slurred speech
OrphaCode: 401953
DisorderType: Disease
Name: X-linked cerebellar ataxia
OrphaCode: 247765
DisorderType: Category
Children: Name: X-linked progressive cerebellar ataxia
OrphaCode: 1175
DisorderType: Disease
Name: Lethal ataxia with deafness and optic atrophy
OrphaCode: 1187
DisorderType: Disease
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: X-linked sideroblastic anemia and spinocerebellar ataxia
OrphaCode: 2802
DisorderType: Disease
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: X-linked spinocerebellar ataxia type 4
OrphaCode: 85292
DisorderType: Disease
Name: X-linked spinocerebellar ataxia type 3
OrphaCode: 85297
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-ataxia-apraxia syndrome
OrphaCode: 85338
DisorderType: Disease
Name: Fragile X-associated tremor/ataxia syndrome
OrphaCode: 93256
DisorderType: Malformation syndrome
Name: X-linked non progressive cerebellar ataxia
OrphaCode: 314978
DisorderType: Disease
Name: Spastic ataxia
OrphaCode: 316226
DisorderType: Clinical group
Children: Name: Autosomal dominant spastic ataxia
OrphaCode: 316235
DisorderType: Category
Children: Name: Spastic ataxia with congenital miosis
OrphaCode: 1182
DisorderType: Disease
Name: Autosomal dominant spastic ataxia type 1
OrphaCode: 251282
DisorderType: Disease
Name: Autosomal recessive spastic ataxia
OrphaCode: 316240
DisorderType: Category
Children: Name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
OrphaCode: 98
DisorderType: Disease
Name: Spastic ataxia-corneal dystrophy syndrome
OrphaCode: 2572
DisorderType: Disease
Name: Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
OrphaCode: 254343
DisorderType: Disease
Name: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
OrphaCode: 313772
DisorderType: Disease
Name: Autosomal recessive spastic ataxia with leukoencephalopathy
OrphaCode: 314603
DisorderType: Disease
Name: Spastic ataxia-dysarthria due to glutaminase deficiency
OrphaCode: 557056
DisorderType: Disease
Name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 527497
DisorderType: Disease
Name: Childhood-onset spasticity with hyperglycinemia
OrphaCode: 401866
DisorderType: Disease
Name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
OrphaCode: 445062
DisorderType: Disease
Name: Neuhauser-Eichner-Opitz syndrome
OrphaCode: 2672
DisorderType: Malformation syndrome
Name: Ataxia-photosensitivity-short stature syndrome
OrphaCode: 1184
DisorderType: Malformation syndrome
Name: Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
OrphaCode: 1236
DisorderType: Malformation syndrome
Name: Tremor-ataxia-central hypomyelination syndrome
OrphaCode: 447896
DisorderType: Clinical subtype
Name: Hypomyelination of early myelinating structures
OrphaCode: 599376
DisorderType: Disease
Name: RFVT2-related riboflavin transporter deficiency
OrphaCode: 572543
DisorderType: Clinical subtype
Name: Non-hereditary degenerative ataxia
OrphaCode: 247239
DisorderType: Category
Children: Name: Multiple system atrophy, cerebellar type
OrphaCode: 227510
DisorderType: Clinical subtype
Name: Sporadic adult-onset ataxia of unknown etiology
OrphaCode: 247234
DisorderType: Disease
Name: Acquired ataxia
OrphaCode: 247242
DisorderType: Category
Children: Name: Immune-mediated cerebellar ataxia
OrphaCode: 623638
DisorderType: Clinical group
Children: Name: Non-specific autoimmune cerebellar ataxia without characteristic antibodies
OrphaCode: 624268
DisorderType: Disease
Name: Paraneoplastic cerebellar degeneration
OrphaCode: 623626
DisorderType: Disease
Name: Postinfectious cerebellitis
OrphaCode: 624244
DisorderType: Disease
Name: Non-specific autoimmune cerebellar ataxia with characteristic antibodies
OrphaCode: 624259
DisorderType: Disease
Name: Steroid-responsive encephalopathy associated with autoimmune thyroiditis
OrphaCode: 83601
DisorderType: Disease
Name: Superficial siderosis
OrphaCode: 247245
DisorderType: Disease
Name: Rare movement disorder
OrphaCode: 102003
DisorderType: Category
Children: Name: Stiff person spectrum disorder
OrphaCode: 3198
DisorderType: Disease
Children: Name: Progressive encephalomyelitis with rigidity and myoclonus
OrphaCode: 438266
DisorderType: Clinical subtype
Name: Classic stiff person syndrome
OrphaCode: 443192
DisorderType: Clinical subtype
Name: Focal stiff limb syndrome
OrphaCode: 443804
DisorderType: Clinical subtype
Name: Rare parkinsonian disorder
OrphaCode: 68402
DisorderType: Category
Children: Name: Rapid-onset dystonia-parkinsonism
OrphaCode: 71517
DisorderType: Disease
Name: Rare parkinsonian syndrome due to neurodegenerative disease
OrphaCode: 306666
DisorderType: Category
Children: Name: Young-onset Parkinson disease
OrphaCode: 2828
DisorderType: Disease
Name: Early-onset parkinsonism-intellectual disability syndrome
OrphaCode: 2379
DisorderType: Disease
Name: X-linked dystonia-parkinsonism
OrphaCode: 53351
DisorderType: Disease
Name: Primary progressive freezing gait
OrphaCode: 75567
DisorderType: Clinical syndrome
Name: Encephalitis lethargica
OrphaCode: 83600
DisorderType: Disease
Name: Postencephalitic parkinsonism
OrphaCode: 97349
DisorderType: Disease
Name: Caribbean parkinsonism
OrphaCode: 97355
DisorderType: Disease
Name: Multiple system atrophy, parkinsonian type
OrphaCode: 98933
DisorderType: Clinical subtype
Name: Parkinsonian-pyramidal syndrome
OrphaCode: 171695
DisorderType: Disease
Name: Perry syndrome
OrphaCode: 178509
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Dystonia 16
OrphaCode: 210571
DisorderType: Disease
Name: Autosomal dominant striatal neurodegeneration
OrphaCode: 228169
DisorderType: Disease
Name: Infantile dystonia-parkinsonism
OrphaCode: 238455
DisorderType: Disease
Name: Hemiparkinsonism-hemiatrophy syndrome
OrphaCode: 306669
DisorderType: Disease
Name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
OrphaCode: 309854
DisorderType: Disease
Name: ATP13A2-related parkinsonism
OrphaCode: 514980
DisorderType: Clinical group
Children: Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: X-linked parkinsonism-spasticity syndrome
OrphaCode: 363654
DisorderType: Disease
Name: Atypical juvenile parkinsonism
OrphaCode: 391411
DisorderType: Disease
Name: Hereditary late-onset Parkinson disease
OrphaCode: 411602
DisorderType: Disease
Name: Bilateral striopallidodentate calcinosis
OrphaCode: 1980
DisorderType: Disease
Name: Progressive supranuclear palsy-predominant parkinsonism syndrome
OrphaCode: 240085
DisorderType: Clinical subtype
Name: Parkinsonism with polyneuropathy
OrphaCode: 611237
DisorderType: Disease
Name: Corticobasal syndrome
OrphaCode: 454887
DisorderType: Disease
Name: Rare parkinsonian syndrome due to intoxication
OrphaCode: 306679
DisorderType: Category
Children: Name: Manganese poisoning
OrphaCode: 306682
DisorderType: Disease
Name: Delayed encephalopathy due to carbon monoxide poisoning
OrphaCode: 306686
DisorderType: Disease
Name: Cyanide-induced parkinsonism-dystonia
OrphaCode: 306692
DisorderType: Disease
Name: Off-periods in Parkinson disease not responding to oral treatment
OrphaCode: 391655
DisorderType: Particular clinical situation in a disease or syndrome
Name: Psychogenic movement disorders
OrphaCode: 71519
DisorderType: Clinical syndrome
Name: Familial congenital mirror movements
OrphaCode: 238722
DisorderType: Disease
Name: Miscellaneous movement disorder due to neurodegenerative disease
OrphaCode: 306695
DisorderType: Category
Children: Name: Neurodegeneration with brain iron accumulation
OrphaCode: 385
DisorderType: Clinical group
Children: Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Sporadic Creutzfeldt-Jakob disease
OrphaCode: 204
DisorderType: Disease
Name: Neuronal intranuclear inclusion disease
OrphaCode: 2289
DisorderType: Disease
Name: Infantile bilateral striatal necrosis
OrphaCode: 1576
DisorderType: Clinical group
Children: Name: Sporadic infantile bilateral striatal necrosis
OrphaCode: 225147
DisorderType: Disease
Name: Familial infantile bilateral striatal necrosis
OrphaCode: 225154
DisorderType: Disease
Name: Multiple system atrophy
OrphaCode: 102
DisorderType: Disease
Children: Name: Multiple system atrophy, parkinsonian type
OrphaCode: 98933
DisorderType: Clinical subtype
Name: Multiple system atrophy, cerebellar type
OrphaCode: 227510
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Huntington disease-like 3
OrphaCode: 157946
DisorderType: Disease
Name: Neuroacanthocytosis
OrphaCode: 263440
DisorderType: Clinical group
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Huntington disease-like 2
OrphaCode: 98934
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Inherited Creutzfeldt-Jakob disease
OrphaCode: 282166
DisorderType: Disease
Name: Frontotemporal neurodegeneration with movement disorder
OrphaCode: 306708
DisorderType: Category
Children: Name: Progressive supranuclear palsy
OrphaCode: 683
DisorderType: Disease
Children: Name: Atypical progressive supranuclear palsy syndrome
OrphaCode: 99750
DisorderType: Clinical subtype
Children: Name: Progressive supranuclear palsy-predominant parkinsonism syndrome
OrphaCode: 240085
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
OrphaCode: 240094
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-corticobasal syndrome
OrphaCode: 240103
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
OrphaCode: 240112
DisorderType: Clinical subtype
Name: Classic progressive supranuclear palsy syndrome
OrphaCode: 240071
DisorderType: Clinical subtype
Name: Corticobasal syndrome
OrphaCode: 454887
DisorderType: Disease
Name: Progressive non-fluent aphasia
OrphaCode: 100070
DisorderType: Disease
Name: Behavioral variant of frontotemporal dementia
OrphaCode: 275864
DisorderType: Disease
Name: Frontotemporal dementia with motor neuron disease
OrphaCode: 275872
DisorderType: Disease
Name: Proximal myopathy with extrapyramidal signs
OrphaCode: 401768
DisorderType: Disease
Name: Acquired Creutzfeldt-Jakob disease
OrphaCode: 454700
DisorderType: Clinical group
Children: Name: Variant Creutzfeldt-Jakob disease
OrphaCode: 576370
DisorderType: Disease
Name: Iatrogenic Creutzfeldt-Jakob disease
OrphaCode: 576379
DisorderType: Disease
Name: Kuru
OrphaCode: 454745
DisorderType: Disease
Name: Variably protease-sensitive prionopathy
OrphaCode: 454742
DisorderType: Disease
Name: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
OrphaCode: 500180
DisorderType: Disease
Name: Rare paroxysmal movement disorder
OrphaCode: 306768
DisorderType: Category
Children: Name: Benign paroxysmal tonic upgaze of childhood with ataxia
OrphaCode: 1179
DisorderType: Disease
Name: Sandifer syndrome
OrphaCode: 71272
DisorderType: Disease
Name: Paroxysmal dystonia
OrphaCode: 200037
DisorderType: Clinical group
Children: Name: Paroxysmal dyskinesia
OrphaCode: 1431
DisorderType: Clinical group
Children: Name: Infantile convulsions and choreoathetosis
OrphaCode: 31709
DisorderType: Disease
Name: Paroxysmal kinesigenic dyskinesia
OrphaCode: 98809
DisorderType: Disease
Name: Paroxysmal non-kinesigenic dyskinesia
OrphaCode: 98810
DisorderType: Disease
Name: Paroxysmal exertion-induced dyskinesia
OrphaCode: 98811
DisorderType: Disease
Name: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
OrphaCode: 53583
DisorderType: Disease
Name: Benign paroxysmal torticollis of infancy
OrphaCode: 71518
DisorderType: Disease
Name: Familial dyskinesia and facial myokymia
OrphaCode: 324588
DisorderType: Disease
Name: Hyperekplexia
OrphaCode: 306773
DisorderType: Clinical group
Children: Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: Hyperekplexia-epilepsy syndrome
OrphaCode: 163985
DisorderType: Disease
Name: Sporadic hyperekplexia
OrphaCode: 306776
DisorderType: Disease
Name: Painful legs and moving toes syndrome
OrphaCode: 617440
DisorderType: Clinical syndrome
Name: Rare hyperkinetic movement disorder
OrphaCode: 494457
DisorderType: Category
Children: Name: Rare dystonia
OrphaCode: 68363
DisorderType: Category
Children: Name: Combined dystonia
OrphaCode: 98203
DisorderType: Category
Children: Name: Paroxysmal dystonia
OrphaCode: 200037
DisorderType: Clinical group
Children: Name: Paroxysmal dyskinesia
OrphaCode: 1431
DisorderType: Clinical group
Children: Name: Infantile convulsions and choreoathetosis
OrphaCode: 31709
DisorderType: Disease
Name: Paroxysmal kinesigenic dyskinesia
OrphaCode: 98809
DisorderType: Disease
Name: Paroxysmal non-kinesigenic dyskinesia
OrphaCode: 98810
DisorderType: Disease
Name: Paroxysmal exertion-induced dyskinesia
OrphaCode: 98811
DisorderType: Disease
Name: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
OrphaCode: 53583
DisorderType: Disease
Name: Benign paroxysmal torticollis of infancy
OrphaCode: 71518
DisorderType: Disease
Name: Persistent combined dystonia
OrphaCode: 391711
DisorderType: Clinical group
Children: Name: Dystonia-parkinsonism-hypermanganesemia syndrome
OrphaCode: 521406
DisorderType: Disease
Name: Dopa-responsive dystonia
OrphaCode: 255
DisorderType: Clinical group
Children: Name: Autosomal recessive dopa-responsive dystonia
OrphaCode: 101150
DisorderType: Disease
Name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
OrphaCode: 70594
DisorderType: Disease
Name: Autosomal dominant dopa-responsive dystonia
OrphaCode: 98808
DisorderType: Disease
Name: Myoclonus-dystonia syndrome
OrphaCode: 36899
DisorderType: Disease
Name: X-linked dystonia-parkinsonism
OrphaCode: 53351
DisorderType: Disease
Name: Rapid-onset dystonia-parkinsonism
OrphaCode: 71517
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Dystonia 16
OrphaCode: 210571
DisorderType: Disease
Name: Infantile dystonia-parkinsonism
OrphaCode: 238455
DisorderType: Disease
Name: Brain dopamine-serotonin vesicular transport disease
OrphaCode: 352649
DisorderType: Disease
Name: Infantile epileptic-dyskinetic encephalopathy
OrphaCode: 364063
DisorderType: Disease
Name: Ataxia-telangiectasia variant
OrphaCode: 370109
DisorderType: Disease
Name: Dystonia-aphonia syndrome
OrphaCode: 412217
DisorderType: Disease
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: Hyperphenylalaninemia due to DNAJC12 deficiency
OrphaCode: 508523
DisorderType: Disease
Name: Dystonia 28
OrphaCode: 589618
DisorderType: Disease
Name: Isolated dystonia
OrphaCode: 156159
DisorderType: Category
Children: Name: Focal, segmental or multifocal dystonia
OrphaCode: 1866
DisorderType: Category
Children: Name: Oromandibular dystonia
OrphaCode: 93958
DisorderType: Disease
Name: Blepharospasm-oromandibular dystonia syndrome
OrphaCode: 93964
DisorderType: Disease
Name: Primary dystonia, DYT4 type
OrphaCode: 98805
DisorderType: Disease
Name: Primary dystonia, DYT13 type
OrphaCode: 98807
DisorderType: Disease
Name: Primary dystonia, DYT2 type
OrphaCode: 99657
DisorderType: Disease
Name: Autosomal dominant focal dystonia, DYT25 type
OrphaCode: 329466
DisorderType: Disease
Name: Primary dystonia, DYT17 type
OrphaCode: 370103
DisorderType: Disease
Name: Cranio-cervical dystonia with laryngeal and upper-limb involvement
OrphaCode: 420485
DisorderType: Disease
Name: Adult-onset cervical dystonia, DYT23 type
OrphaCode: 420492
DisorderType: Disease
Name: Primary dystonia, DYT27 type
OrphaCode: 464440
DisorderType: Disease
Name: Infantile-onset generalized dyskinesia with orofacial involvement
OrphaCode: 494526
DisorderType: Disease
Name: Generalized isolated dystonia
OrphaCode: 376724
DisorderType: Category
Children: Name: Early-onset generalized limb-onset dystonia
OrphaCode: 256
DisorderType: Disease
Name: Primary dystonia, DYT6 type
OrphaCode: 98806
DisorderType: Disease
Name: Primary dystonia, DYT21 type
OrphaCode: 306734
DisorderType: Disease
Name: Hemidystonia-hemiatrophy syndrome
OrphaCode: 306741
DisorderType: Disease
Name: Rare disorder with dystonia and other neurologic or systemic manifestation
OrphaCode: 370106
DisorderType: Category
Children: Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: Childhood-onset basal ganglia degeneration syndrome
OrphaCode: 497906
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
OrphaCode: 597623
DisorderType: Disease
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
OrphaCode: 660017
DisorderType: Disease
Children: Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
OrphaCode: 660012
DisorderType: Etiological subtype
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
OrphaCode: 1617
DisorderType: Etiological subtype
Name: Rare tremor disorder
OrphaCode: 306712
DisorderType: Category
Children: Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Tremor-nystagmus-duodenal ulcer syndrome
OrphaCode: 3350
DisorderType: Disease
Name: Hereditary geniospasm
OrphaCode: 53372
DisorderType: Disease
Name: Sensorineural hearing loss-early graying-essential tremor syndrome
OrphaCode: 66633
DisorderType: Disease
Name: Fragile X-associated tremor/ataxia syndrome
OrphaCode: 93256
DisorderType: Malformation syndrome
Name: Primary orthostatic tremor
OrphaCode: 238606
DisorderType: Disease
Name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
OrphaCode: 457212
DisorderType: Disease
Name: Rare choreic movement disorder
OrphaCode: 306715
DisorderType: Category
Children: Name: Neurodegenerative disease with chorea
OrphaCode: 306719
DisorderType: Category
Children: Name: Childhood-onset benign chorea with striatal involvement
OrphaCode: 494541
DisorderType: Disease
Name: Huntington disease
OrphaCode: 399
DisorderType: Disease
Name: Benign hereditary chorea
OrphaCode: 1429
DisorderType: Disease
Name: Huntington disease-like 1
OrphaCode: 157941
DisorderType: Disease
Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Juvenile Huntington disease
OrphaCode: 248111
DisorderType: Disease
Name: Huntington disease-like syndrome due to C9ORF72 expansions
OrphaCode: 401901
DisorderType: Disease
Name: Postinfectious autoimmune disease with chorea
OrphaCode: 306727
DisorderType: Category
Children: Name: PANDAS
OrphaCode: 66624
DisorderType: Disease
Name: Sydenham chorea
OrphaCode: 306731
DisorderType: Particular clinical situation in a disease or syndrome
Name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
OrphaCode: 369847
DisorderType: Disease
Name: Rare myoclonus
OrphaCode: 306747
DisorderType: Category
Children: Name: Primary myoclonus
OrphaCode: 306750
DisorderType: Category
Children: Name: Myoclonus-dystonia syndrome
OrphaCode: 36899
DisorderType: Disease
Name: Benign adult familial myoclonic epilepsy
OrphaCode: 86814
DisorderType: Disease
Name: Familial cortical myoclonus
OrphaCode: 319189
DisorderType: Disease
Name: Hemifacial spasm
OrphaCode: 221083
DisorderType: Disease
Name: Rare disease with myoclonus as a major feature
OrphaCode: 306753
DisorderType: Category
Children: Name: Whipple disease
OrphaCode: 3452
DisorderType: Disease
Name: Opsoclonus-myoclonus syndrome
OrphaCode: 1183
DisorderType: Disease
Name: Epilepsy and/or ataxia with myoclonus as a major feature
OrphaCode: 306756
DisorderType: Category
Children: Name: Non progressive epilepsy and/or ataxia with myoclonus as a major feature
OrphaCode: 306759
DisorderType: Category
Children: Name: Juvenile myoclonic epilepsy
OrphaCode: 307
DisorderType: Disease
Name: Epilepsy with myoclonic absences
OrphaCode: 86911
DisorderType: Disease
Name: Progressive myoclonic epilepsy
OrphaCode: 98261
DisorderType: Clinical group
Children: Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Lafora disease
OrphaCode: 501
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 1
OrphaCode: 308
DisorderType: Disease
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: Familial encephalopathy with neuroserpin inclusion bodies
OrphaCode: 85110
DisorderType: Disease
Children: Name: Progressive dementia with neuroserpin inclusion bodies
OrphaCode: 530303
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy with neuroserpin inclusion bodies
OrphaCode: 530298
DisorderType: Clinical subtype
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 6
OrphaCode: 280620
DisorderType: Disease
Name: Early-onset Lafora body disease
OrphaCode: 324290
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 5
OrphaCode: 402082
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 8
OrphaCode: 424027
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 7
OrphaCode: 435438
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 9
OrphaCode: 457265
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OrphaCode: 2590
DisorderType: Disease
Name: Motor stereotypies
OrphaCode: 306765
DisorderType: Category
Children: Name: FOXG1 syndrome
OrphaCode: 561854
DisorderType: Disease
Children: Name: FOXG1 syndrome due to intragenic alteration
OrphaCode: 598164
DisorderType: Clinical subtype
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: CDKL5-deficiency disorder
OrphaCode: 505652
DisorderType: Disease
Name: Rett syndrome
OrphaCode: 778
DisorderType: Disease
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Atypical Rett syndrome
OrphaCode: 3095
DisorderType: Disease
Name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
OrphaCode: 522077
DisorderType: Disease
Name: GNAO1-related developmental delay-seizures-movement disorder spectrum
OrphaCode: 592564
DisorderType: Disease
Name: Arachnoiditis
OrphaCode: 137817
DisorderType: Disease
Name: Neonatal brainstem dysfunction
OrphaCode: 137929
DisorderType: Disease
Name: Brain calcification, Rajab type
OrphaCode: 178506
DisorderType: Disease
Name: Rare neuroinflammatory or neuroimmunological disease
OrphaCode: 182064
DisorderType: Category
Children: Name: Isolated optic neuritis
OrphaCode: 499096
DisorderType: Disease
Children: Name: Chronic relapsing inflammatory optic neuritis
OrphaCode: 499085
DisorderType: Clinical subtype
Name: Relapsing isolated optic neuritis
OrphaCode: 659634
DisorderType: Clinical subtype
Name: Single isolated optic neuritis
OrphaCode: 659626
DisorderType: Clinical subtype
Name: Guillain-Barré syndrome
OrphaCode: 2103
DisorderType: Clinical group
Children: Name: Acute inflammatory demyelinating polyradiculoneuropathy
OrphaCode: 98916
DisorderType: Disease
Name: Acute motor and sensory axonal neuropathy
OrphaCode: 98917
DisorderType: Disease
Name: Acute motor axonal neuropathy
OrphaCode: 98918
DisorderType: Disease
Name: Variant of Guillain-Barré syndrome
OrphaCode: 231413
DisorderType: Category
Children: Name: Regional variant of Guillain-Barré syndrome
OrphaCode: 231416
DisorderType: Clinical group
Children: Name: Bickerstaff brainstem encephalitis
OrphaCode: 79138
DisorderType: Disease
Name: Miller Fisher syndrome
OrphaCode: 98919
DisorderType: Disease
Name: Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
OrphaCode: 231426
DisorderType: Disease
Name: Facial diplegia with paresthesias
OrphaCode: 480701
DisorderType: Disease
Name: Functional variant of Guillain-Barré syndrome
OrphaCode: 231419
DisorderType: Clinical group
Children: Name: Paraparetic variant of Guillain-Barré syndrome
OrphaCode: 231445
DisorderType: Disease
Name: Acute pure sensory neuropathy
OrphaCode: 231450
DisorderType: Disease
Name: Acute pandysautonomia
OrphaCode: 231457
DisorderType: Disease
Name: Acute sensory ataxic neuropathy
OrphaCode: 231466
DisorderType: Disease
Name: Stiff person spectrum disorder
OrphaCode: 3198
DisorderType: Disease
Children: Name: Progressive encephalomyelitis with rigidity and myoclonus
OrphaCode: 438266
DisorderType: Clinical subtype
Name: Classic stiff person syndrome
OrphaCode: 443192
DisorderType: Clinical subtype
Name: Focal stiff limb syndrome
OrphaCode: 443804
DisorderType: Clinical subtype
Name: Chronic inflammatory demyelinating polyneuropathy
OrphaCode: 2932
DisorderType: Disease
Children: Name: Lewis-Sumner syndrome
OrphaCode: 48162
DisorderType: Clinical subtype
Name: Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
OrphaCode: 639
DisorderType: Disease
Name: Vogt-Koyanagi-Harada disease
OrphaCode: 3437
DisorderType: Disease
Name: CANOMAD syndrome
OrphaCode: 71279
DisorderType: Disease
Name: Brain inflammatory disease
OrphaCode: 102005
DisorderType: Category
Children: Name: Familial hemophagocytic lymphohistiocytosis
OrphaCode: 540
DisorderType: Disease
Name: Progressive hemifacial atrophy
OrphaCode: 1214
DisorderType: Disease
Name: Opsoclonus-myoclonus syndrome
OrphaCode: 1183
DisorderType: Disease
Name: Griscelli syndrome type 1
OrphaCode: 79476
DisorderType: Clinical subtype
Name: Encephalitis
OrphaCode: 97275
DisorderType: Category
Children: Name: Autoimmune encephalitis
OrphaCode: 622014
DisorderType: Clinical group
Children: Name: Paraneoplastic isolated brainstem encephalitis
OrphaCode: 624190
DisorderType: Disease
Name: NMDA receptor encephalitis
OrphaCode: 217253
DisorderType: Disease
Name: Bickerstaff brainstem encephalitis
OrphaCode: 79138
DisorderType: Disease
Name: Acute disseminated encephalomyelitis
OrphaCode: 83597
DisorderType: Disease
Children: Name: Acute disseminated encephalomyelitis with anti-MOG antibodies
OrphaCode: 592894
DisorderType: Clinical subtype
Name: Acute disseminated encephalomyelitis without anti-MOG antibodies
OrphaCode: 592900
DisorderType: Clinical subtype
Name: Steroid-responsive encephalopathy associated with autoimmune thyroiditis
OrphaCode: 83601
DisorderType: Disease
Name: Autoimmune limbic encephalitis
OrphaCode: 623615
DisorderType: Disease
Name: Immune-mediated cerebellar ataxia
OrphaCode: 623638
DisorderType: Clinical group
Children: Name: Non-specific autoimmune cerebellar ataxia without characteristic antibodies
OrphaCode: 624268
DisorderType: Disease
Name: Paraneoplastic cerebellar degeneration
OrphaCode: 623626
DisorderType: Disease
Name: Postinfectious cerebellitis
OrphaCode: 624244
DisorderType: Disease
Name: Non-specific autoimmune cerebellar ataxia with characteristic antibodies
OrphaCode: 624259
DisorderType: Disease
Name: Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
OrphaCode: 624166
DisorderType: Disease
Name: Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
OrphaCode: 624178
DisorderType: Disease
Name: Non-specific autoimmune brainstem encephalitis with characteristic antibodies
OrphaCode: 624199
DisorderType: Disease
Name: Non-specific autoimmune brainstem encephalitis without characteristic antibodies
OrphaCode: 624216
DisorderType: Disease
Name: Posttransplant acute limbic encephalitis
OrphaCode: 163921
DisorderType: Particular clinical situation in a disease or syndrome
Name: Infectious encephalitis
OrphaCode: 98252
DisorderType: Category
Children: Name: Chikungunya
OrphaCode: 324625
DisorderType: Disease
Name: Herpes simplex virus encephalitis
OrphaCode: 1930
DisorderType: Disease
Name: Tick-borne encephalitis
OrphaCode: 297
DisorderType: Disease
Name: Japanese encephalitis
OrphaCode: 79139
DisorderType: Disease
Name: West-Nile encephalitis
OrphaCode: 83476
DisorderType: Disease
Name: Mycoplasma encephalitis
OrphaCode: 83482
DisorderType: Disease
Name: La Crosse encephalitis
OrphaCode: 83483
DisorderType: Disease
Name: St. Louis encephalitis
OrphaCode: 83484
DisorderType: Disease
Name: Western equine encephalitis
OrphaCode: 83593
DisorderType: Disease
Name: Eastern equine encephalitis
OrphaCode: 83594
DisorderType: Disease
Name: Colorado tick fever
OrphaCode: 83595
DisorderType: Disease
Name: Rubella panencephalitis
OrphaCode: 83616
DisorderType: Disease
Name: Nipah virus disease
OrphaCode: 99825
DisorderType: Disease
Name: Klüver-Bucy syndrome
OrphaCode: 157823
DisorderType: Clinical syndrome
Name: Progressive multifocal leukoencephalopathy
OrphaCode: 217260
DisorderType: Disease
Name: Acute necrotizing encephalopathy of childhood
OrphaCode: 263524
DisorderType: Disease
Name: Hendra virus infection
OrphaCode: 324632
DisorderType: Disease
Name: Borna virus encephalitis
OrphaCode: 637051
DisorderType: Disease
Name: Chronic encephalitis
OrphaCode: 98255
DisorderType: Category
Children: Name: Rasmussen subacute encephalitis
OrphaCode: 1929
DisorderType: Disease
Name: Encephalitis lethargica
OrphaCode: 83600
DisorderType: Disease
Name: Subacute sclerosing leukoencephalitis
OrphaCode: 2806
DisorderType: Disease
Name: Rubella panencephalitis
OrphaCode: 83616
DisorderType: Disease
Name: Fatal post-viral neurodegenerative disorder
OrphaCode: 391343
DisorderType: Disease
Name: Postinfectious vasculitis
OrphaCode: 48435
DisorderType: Disease
Name: IgG4-related pachymeningitis
OrphaCode: 449427
DisorderType: Clinical subtype
Name: Multiple sclerosis variant
OrphaCode: 228145
DisorderType: Category
Children: Name: Schilder disease
OrphaCode: 59298
DisorderType: Disease
Name: Neuromyelitis optica spectrum disorder
OrphaCode: 71211
DisorderType: Disease
Children: Name: Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
OrphaCode: 592850
DisorderType: Clinical subtype
Name: Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
OrphaCode: 592869
DisorderType: Clinical subtype
Name: Neuromyelitis optica spectrum disorder with anti-MOG antibodies
OrphaCode: 592856
DisorderType: Clinical subtype
Name: Acute disseminated encephalomyelitis
OrphaCode: 83597
DisorderType: Disease
Children: Name: Acute disseminated encephalomyelitis with anti-MOG antibodies
OrphaCode: 592894
DisorderType: Clinical subtype
Name: Acute disseminated encephalomyelitis without anti-MOG antibodies
OrphaCode: 592900
DisorderType: Clinical subtype
Name: Marburg acute multiple sclerosis
OrphaCode: 228157
DisorderType: Disease
Name: Baló concentric sclerosis
OrphaCode: 228165
DisorderType: Disease
Name: Pediatric multiple sclerosis
OrphaCode: 477738
DisorderType: Disease
Name: CLIPPERS
OrphaCode: 284448
DisorderType: Disease
Name: Rare neurodegenerative disease
OrphaCode: 182070
DisorderType: Category
Children: Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
OrphaCode: 610573
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 5
OrphaCode: 569274
DisorderType: Disease
Name: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
OrphaCode: 621758
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 6
OrphaCode: 569290
DisorderType: Disease
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
OrphaCode: 480864
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 29
OrphaCode: 478029
DisorderType: Disease
Name: Alexander disease
OrphaCode: 58
DisorderType: Disease
Children: Name: Alexander disease type I
OrphaCode: 363717
DisorderType: Clinical subtype
Name: Alexander disease type II
OrphaCode: 363722
DisorderType: Clinical subtype
Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Amyotrophic lateral sclerosis
OrphaCode: 803
DisorderType: Disease
Name: Kennedy disease
OrphaCode: 481
DisorderType: Disease
Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: Hereditary spastic paraplegia
OrphaCode: 685
DisorderType: Clinical group
Children: Name: Pure hereditary spastic paraplegia
OrphaCode: 102012
DisorderType: Clinical group
Children: Name: Autosomal dominant pure spastic paraplegia
OrphaCode: 100980
DisorderType: Clinical group
Children: Name: Autosomal dominant spastic paraplegia type 12
OrphaCode: 100993
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 19
OrphaCode: 100999
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 37
OrphaCode: 171612
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 42
OrphaCode: 171863
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 41
OrphaCode: 320355
DisorderType: Disease
Name: Autosomal spastic paraplegia type 72
OrphaCode: 401849
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 73
OrphaCode: 444099
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 80
OrphaCode: 631068
DisorderType: Disease
Name: Autosomal recessive pure spastic paraplegia
OrphaCode: 100982
DisorderType: Clinical group
Children: Name: Autosomal recessive spastic paraplegia type 24
OrphaCode: 101004
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 28
OrphaCode: 101008
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 62
OrphaCode: 401785
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 71
OrphaCode: 401840
DisorderType: Disease
Name: Autosomal spastic paraplegia type 72
OrphaCode: 401849
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 83
OrphaCode: 631076
DisorderType: Disease
Name: X-linked pure spastic paraplegia
OrphaCode: 320332
DisorderType: Clinical group
Children: Name: X-linked spastic paraplegia type 34
OrphaCode: 171607
DisorderType: Disease
Name: Complex hereditary spastic paraplegia
OrphaCode: 102013
DisorderType: Clinical group
Children: Name: X-linked complex spastic paraplegia
OrphaCode: 98888
DisorderType: Clinical group
Children: Name: MASA syndrome
OrphaCode: 2466
DisorderType: Clinical subtype
Name: Autosomal dominant complex spastic paraplegia
OrphaCode: 100979
DisorderType: Clinical group
Children: Name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
OrphaCode: 521390
DisorderType: Malformation syndrome
Name: Autosomal dominant spastic paraplegia type 9A
OrphaCode: 447753
DisorderType: Disease
Name: Spastic paraplegia-facial-cutaneous lesions syndrome
OrphaCode: 2819
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: Spastic paraplegia-neuropathy-poikiloderma syndrome
OrphaCode: 2821
DisorderType: Disease
Name: Spastic paraplegia-precocious puberty syndrome
OrphaCode: 2826
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 17
OrphaCode: 100998
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 29
OrphaCode: 101009
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 38
OrphaCode: 171617
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 36
OrphaCode: 320365
DisorderType: Disease
Name: Spastic paraplegia-Paget disease of bone syndrome
OrphaCode: 329475
DisorderType: Disease
Name: Spastic paraparesis-cataracts-speech delay syndrome
OrphaCode: 615938
DisorderType: Clinical syndrome
Name: Autosomal recessive complex spastic paraplegia
OrphaCode: 100981
DisorderType: Clinical group
Children: Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
OrphaCode: 464282
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 75
OrphaCode: 459056
DisorderType: Disease
Name: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
OrphaCode: 477673
DisorderType: Disease
Name: Spastic paraplegia-glaucoma-intellectual disability syndrome
OrphaCode: 2818
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 15
OrphaCode: 100996
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 20
OrphaCode: 101000
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 23
OrphaCode: 101003
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 25
OrphaCode: 101005
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 26
OrphaCode: 101006
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 39
OrphaCode: 139480
DisorderType: Disease
Name: Mutilating hereditary sensory neuropathy with spastic paraplegia
OrphaCode: 139578
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 32
OrphaCode: 171622
DisorderType: Disease
Name: Severe intellectual disability and progressive spastic paraplegia
OrphaCode: 280763
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 53
OrphaCode: 319199
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 43
OrphaCode: 320370
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 54
OrphaCode: 320380
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
OrphaCode: 320385
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 46
OrphaCode: 320391
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 44
OrphaCode: 320401
DisorderType: Disease
Name: Autosomal spastic paraplegia type 58
OrphaCode: 397946
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 61
OrphaCode: 401780
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 59
OrphaCode: 401795
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 60
OrphaCode: 401800
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 63
OrphaCode: 401805
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 64
OrphaCode: 401810
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 66
OrphaCode: 401815
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 67
OrphaCode: 401820
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 69
OrphaCode: 401830
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 70
OrphaCode: 401835
DisorderType: Disease
Name: Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
OrphaCode: 431320
DisorderType: Clinical group
Children: Name: Spastic paraplegia-optic atrophy-neuropathy syndrome
OrphaCode: 320406
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 57
OrphaCode: 431329
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 74
OrphaCode: 468661
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 9B
OrphaCode: 447760
DisorderType: Disease
Name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
OrphaCode: 506353
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 21
OrphaCode: 101001
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 35
OrphaCode: 171629
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
OrphaCode: 496689
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 76
OrphaCode: 488594
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 82
OrphaCode: 631073
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 84
OrphaCode: 631079
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 78
OrphaCode: 513436
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 85
OrphaCode: 631082
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 86
OrphaCode: 631085
DisorderType: Disease
Name: MT-ATP6-related mitochondrial spastic paraplegia
OrphaCode: 320360
DisorderType: Disease
Name: Pure or complex hereditary spastic paraplegia
OrphaCode: 320335
DisorderType: Clinical group
Children: Name: Pure or complex autosomal dominant spastic paraplegia
OrphaCode: 320342
DisorderType: Clinical group
Children: Name: Autosomal spastic paraplegia type 30
OrphaCode: 101010
DisorderType: Disease
Name: Autosomal spastic paraplegia type 18
OrphaCode: 209951
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 3
OrphaCode: 100984
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 4
OrphaCode: 100985
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 6
OrphaCode: 100988
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 10
OrphaCode: 100991
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 13
OrphaCode: 100994
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 31
OrphaCode: 101011
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 9B
OrphaCode: 447757
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 8
OrphaCode: 100989
DisorderType: Disease
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: Pure or complex autosomal recessive spastic paraplegia
OrphaCode: 320346
DisorderType: Clinical group
Children: Name: Autosomal recessive spastic paraplegia type 87
OrphaCode: 631088
DisorderType: Disease
Name: Macrocephaly-spastic paraplegia-dysmorphism syndrome
OrphaCode: 2429
DisorderType: Malformation syndrome
Name: Autosomal recessive spastic paraplegia type 11
OrphaCode: 2822
DisorderType: Disease
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 5A
OrphaCode: 100986
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 14
OrphaCode: 100995
DisorderType: Disease
Name: Autosomal spastic paraplegia type 30
OrphaCode: 101010
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 45
OrphaCode: 320396
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 48
OrphaCode: 306511
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 56
OrphaCode: 320411
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 77
OrphaCode: 466722
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 27
OrphaCode: 101007
DisorderType: Disease
Name: Pure or complex X-linked spastic paraplegia
OrphaCode: 320350
DisorderType: Clinical group
Children: Name: Allan-Herndon-Dudley syndrome
OrphaCode: 59
DisorderType: Disease
Name: Spastic paraplegia type 2
OrphaCode: 99015
DisorderType: Disease
Name: X-linked spastic paraplegia type 16
OrphaCode: 100997
DisorderType: Disease
Name: Pelizaeus-Merzbacher disease
OrphaCode: 702
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher disease, connatal form
OrphaCode: 280210
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, classic form
OrphaCode: 280219
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, transitional form
OrphaCode: 280224
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease in female carriers
OrphaCode: 280229
DisorderType: Clinical subtype
Name: Null syndrome
OrphaCode: 280234
DisorderType: Clinical subtype
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Neuronal intranuclear inclusion disease
OrphaCode: 2289
DisorderType: Disease
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Primary lateral sclerosis
OrphaCode: 35689
DisorderType: Disease
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: Posterior cortical atrophy
OrphaCode: 54247
DisorderType: Disease
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
OrphaCode: 83629
DisorderType: Disease
Name: Facial onset sensory and motor neuronopathy
OrphaCode: 85162
DisorderType: Disease
Name: X-linked neurodegenerative syndrome, Bertini type
OrphaCode: 85334
DisorderType: Disease
Name: X-linked neurodegenerative syndrome, Hamel type
OrphaCode: 85336
DisorderType: Disease
Name: Neurodegenerative disease with dementia
OrphaCode: 98534
DisorderType: Category
Children: Name: Huntington disease
OrphaCode: 399
DisorderType: Disease
Name: Early-onset autosomal dominant Alzheimer disease
OrphaCode: 1020
DisorderType: Disease
Name: Parkinson-dementia complex of Guam
OrphaCode: 90020
DisorderType: Disease
Name: Primary progressive aphasia
OrphaCode: 95432
DisorderType: Clinical group
Children: Name: Semantic dementia
OrphaCode: 100069
DisorderType: Disease
Name: Progressive non-fluent aphasia
OrphaCode: 100070
DisorderType: Disease
Name: Logopenic progressive aphasia
OrphaCode: 250831
DisorderType: Disease
Name: Frontotemporal degeneration with dementia
OrphaCode: 98535
DisorderType: Clinical group
Children: Name: Progressive supranuclear palsy
OrphaCode: 683
DisorderType: Disease
Children: Name: Atypical progressive supranuclear palsy syndrome
OrphaCode: 99750
DisorderType: Clinical subtype
Children: Name: Progressive supranuclear palsy-predominant parkinsonism syndrome
OrphaCode: 240085
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
OrphaCode: 240094
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-corticobasal syndrome
OrphaCode: 240103
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
OrphaCode: 240112
DisorderType: Clinical subtype
Name: Classic progressive supranuclear palsy syndrome
OrphaCode: 240071
DisorderType: Clinical subtype
Name: Frontotemporal dementia
OrphaCode: 282
DisorderType: Clinical group
Children: Name: Semantic dementia
OrphaCode: 100069
DisorderType: Disease
Name: Progressive non-fluent aphasia
OrphaCode: 100070
DisorderType: Disease
Name: Behavioral variant of frontotemporal dementia
OrphaCode: 275864
DisorderType: Disease
Name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
OrphaCode: 52430
DisorderType: Disease
Name: Frontotemporal dementia with motor neuron disease
OrphaCode: 275872
DisorderType: Disease
Name: Corticobasal syndrome
OrphaCode: 454887
DisorderType: Disease
Name: Ataxia with dementia
OrphaCode: 98538
DisorderType: Category
Children: Name: Early-onset ataxia with dementia
OrphaCode: 98539
DisorderType: Category
Children: Name: Autosomal recessive cerebellar ataxia
OrphaCode: 1172
DisorderType: Category
Children: Name: Autosomal recessive ataxia, Beauce type
OrphaCode: 88644
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia
OrphaCode: 98095
DisorderType: Category
Children: Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Dysequilibrium syndrome
OrphaCode: 1766
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Cerebellar ataxia, Cayman type
OrphaCode: 94122
DisorderType: Disease
Name: Joubert syndrome and related disorders
OrphaCode: 140874
DisorderType: Category
Children: Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
OrphaCode: 453521
DisorderType: Disease
Name: Congenital cerebellar ataxia due to RNU12 mutation
OrphaCode: 512260
DisorderType: Disease
Name: Autosomal recessive metabolic cerebellar ataxia
OrphaCode: 98096
DisorderType: Category
Children: Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Recessive mitochondrial ataxia syndrome
OrphaCode: 94125
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
OrphaCode: 352641
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
OrphaCode: 363429
DisorderType: Disease
Children: Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to a DNA repair defect
OrphaCode: 98097
DisorderType: Category
Children: Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 1
OrphaCode: 94124
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Autosomal recessive degenerative and progressive cerebellar ataxia
OrphaCode: 98098
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Early-onset cerebellar ataxia with retained tendon reflexes
OrphaCode: 1177
DisorderType: Disease
Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Posterior column ataxia-retinitis pigmentosa syndrome
OrphaCode: 88628
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Autosomal recessive syndromic cerebellar ataxia
OrphaCode: 98099
DisorderType: Category
Children: Name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
OrphaCode: 95434
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
OrphaCode: 284271
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Adult-onset autosomal recessive cerebellar ataxia
OrphaCode: 284289
DisorderType: Disease
Name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
OrphaCode: 284324
DisorderType: Disease
Name: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
OrphaCode: 284332
DisorderType: Disease
Name: Spectrin-associated autosomal recessive cerebellar ataxia
OrphaCode: 352403
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OrphaCode: 412057
DisorderType: Disease
Name: Late-onset ataxia with dementia
OrphaCode: 98540
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia
OrphaCode: 99
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia type I
OrphaCode: 94145
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 19/22
OrphaCode: 98772
DisorderType: Disease
Name: Spinocerebellar ataxia type 21
OrphaCode: 98773
DisorderType: Disease
Name: Spinocerebellar ataxia type 23
OrphaCode: 101108
DisorderType: Disease
Name: Spinocerebellar ataxia type 28
OrphaCode: 101109
DisorderType: Disease
Name: Spinocerebellar ataxia type 20
OrphaCode: 101110
DisorderType: Disease
Name: Spinocerebellar ataxia type 25
OrphaCode: 101111
DisorderType: Disease
Name: Spinocerebellar ataxia type 29
OrphaCode: 208513
DisorderType: Disease
Name: Spinocerebellar ataxia type 32
OrphaCode: 276183
DisorderType: Disease
Name: Spinocerebellar ataxia type 35
OrphaCode: 276193
DisorderType: Disease
Name: Spinocerebellar ataxia type 36
OrphaCode: 276198
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Non-progressive cerebellar ataxia with intellectual disability
OrphaCode: 314647
DisorderType: Disease
Name: Spinocerebellar ataxia type 37
OrphaCode: 363710
DisorderType: Disease
Name: Spinocerebellar ataxia type 40
OrphaCode: 423275
DisorderType: Disease
Name: Spinocerebellar ataxia type 34
OrphaCode: 1955
DisorderType: Disease
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Spinocerebellar ataxia type 3
OrphaCode: 98757
DisorderType: Disease
Children: Name: Machado-Joseph disease type 1
OrphaCode: 276238
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 2
OrphaCode: 276241
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 3
OrphaCode: 276244
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Spinocerebellar ataxia type 8
OrphaCode: 98760
DisorderType: Disease
Name: Spinocerebellar ataxia type 12
OrphaCode: 98762
DisorderType: Disease
Name: Spinocerebellar ataxia type 14
OrphaCode: 98763
DisorderType: Disease
Name: Spinocerebellar ataxia type 27
OrphaCode: 98764
DisorderType: Disease
Name: Spinocerebellar ataxia type 4
OrphaCode: 98765
DisorderType: Disease
Name: Spinocerebellar ataxia type 13
OrphaCode: 98768
DisorderType: Disease
Name: Spinocerebellar ataxia type 15/16
OrphaCode: 98769
DisorderType: Disease
Name: Spinocerebellar ataxia type 18
OrphaCode: 98771
DisorderType: Disease
Name: Spinocerebellar ataxia type 43
OrphaCode: 497764
DisorderType: Disease
Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Spinocerebellar ataxia type 46
OrphaCode: 589522
DisorderType: Disease
Name: Spinocerebellar ataxia type 48
OrphaCode: 631103
DisorderType: Disease
Name: Spinocerebellar ataxia type 27B
OrphaCode: 675216
DisorderType: Disease
Name: Spinocerebellar ataxia type 49
OrphaCode: 631106
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type III
OrphaCode: 94148
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 45
OrphaCode: 589527
DisorderType: Disease
Name: Spinocerebellar ataxia type 44
OrphaCode: 631095
DisorderType: Disease
Name: Spinocerebellar ataxia type 6
OrphaCode: 98758
DisorderType: Disease
Name: Spinocerebellar ataxia type 5
OrphaCode: 98766
DisorderType: Disease
Name: Spinocerebellar ataxia type 11
OrphaCode: 98767
DisorderType: Disease
Name: Spinocerebellar ataxia type 26
OrphaCode: 101112
DisorderType: Disease
Name: Spinocerebellar ataxia type 30
OrphaCode: 211017
DisorderType: Disease
Name: Spinocerebellar ataxia type 31
OrphaCode: 217012
DisorderType: Disease
Name: Spinocerebellar ataxia type 38
OrphaCode: 423296
DisorderType: Disease
Name: Spinocerebellar ataxia type 41
OrphaCode: 458798
DisorderType: Disease
Name: Spinocerebellar ataxia type 42
OrphaCode: 458803
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type IV
OrphaCode: 94149
DisorderType: Clinical group
Children: Name: Dentatorubral pallidoluysian atrophy
OrphaCode: 101
DisorderType: Disease
Name: Spinocerebellar ataxia type 10
OrphaCode: 98761
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type II
OrphaCode: 208508
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 7
OrphaCode: 94147
DisorderType: Disease
Name: PUM1-related cerebellar ataxia
OrphaCode: 642747
DisorderType: Disease
Name: Juvenile Huntington disease
OrphaCode: 248111
DisorderType: Disease
Name: Huntington disease-like syndrome due to C9ORF72 expansions
OrphaCode: 401901
DisorderType: Disease
Name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
OrphaCode: 412066
DisorderType: Disease
Name: ITM2B amyloidosis
OrphaCode: 439254
DisorderType: Disease
Children: Name: ABri amyloidosis
OrphaCode: 97345
DisorderType: Clinical subtype
Name: ADan amyloidosis
OrphaCode: 97346
DisorderType: Clinical subtype
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: Human prion disease
OrphaCode: 56970
DisorderType: Category
Children: Name: Inherited human prion disease
OrphaCode: 280400
DisorderType: Category
Children: Name: Gerstmann-Straussler-Scheinker syndrome
OrphaCode: 356
DisorderType: Disease
Name: Fatal familial insomnia
OrphaCode: 466
DisorderType: Disease
Name: Huntington disease-like 1
OrphaCode: 157941
DisorderType: Disease
Name: Familial Alzheimer-like prion disease
OrphaCode: 280397
DisorderType: Disease
Name: Inherited Creutzfeldt-Jakob disease
OrphaCode: 282166
DisorderType: Disease
Name: PrP systemic amyloidosis
OrphaCode: 397606
DisorderType: Disease
Name: Sporadic human prion disease
OrphaCode: 576356
DisorderType: Category
Children: Name: Sporadic Creutzfeldt-Jakob disease
OrphaCode: 204
DisorderType: Disease
Name: Variably protease-sensitive prionopathy
OrphaCode: 454742
DisorderType: Disease
Name: Sporadic fatal insomnia
OrphaCode: 586130
DisorderType: Disease
Name: Acquired human prion disease
OrphaCode: 576360
DisorderType: Category
Children: Name: Kuru
OrphaCode: 454745
DisorderType: Disease
Name: Acquired Creutzfeldt-Jakob disease
OrphaCode: 454700
DisorderType: Clinical group
Children: Name: Variant Creutzfeldt-Jakob disease
OrphaCode: 576370
DisorderType: Disease
Name: Iatrogenic Creutzfeldt-Jakob disease
OrphaCode: 576379
DisorderType: Disease
Name: Neurodegeneration with brain iron accumulation
OrphaCode: 385
DisorderType: Clinical group
Children: Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Hereditary late-onset Parkinson disease
OrphaCode: 411602
DisorderType: Disease
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
OrphaCode: 313808
DisorderType: Disease
Name: Neuroacanthocytosis
OrphaCode: 263440
DisorderType: Clinical group
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Huntington disease-like 2
OrphaCode: 98934
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Neurodegenerative syndrome due to cerebral folate transport deficiency
OrphaCode: 217382
DisorderType: Disease
Name: Marchiafava-Bignami disease
OrphaCode: 221074
DisorderType: Disease
Name: GM2 gangliosidosis
OrphaCode: 309152
DisorderType: Clinical group
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: GM2 gangliosidosis, AB variant
OrphaCode: 309246
DisorderType: Disease
Name: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Primary progressive apraxia of speech
OrphaCode: 314566
DisorderType: Disease
Name: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
OrphaCode: 352654
DisorderType: Disease
Name: Attenuated Chédiak-Higashi syndrome
OrphaCode: 352723
DisorderType: Disease
Name: Amyotrophic lateral sclerosis type 4
OrphaCode: 357043
DisorderType: Disease
Name: Severe neurodegenerative syndrome with lipodystrophy
OrphaCode: 363400
DisorderType: Disease
Name: Autosomal recessive cerebral atrophy
OrphaCode: 363969
DisorderType: Disease
Name: Hypotonia-speech impairment-severe cognitive delay syndrome
OrphaCode: 371364
DisorderType: Disease
Name: Fatal post-viral neurodegenerative disorder
OrphaCode: 391343
DisorderType: Disease
Name: Ferro-cerebro-cutaneous syndrome
OrphaCode: 397922
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
OrphaCode: 505242
DisorderType: Disease
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: NAD(P)HX dehydratase deficiency
OrphaCode: 555402
DisorderType: Disease
Name: NAD(P)HX epimerase deficiency
OrphaCode: 555407
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
OrphaCode: 457375
DisorderType: Disease
Name: Childhood-onset basal ganglia degeneration syndrome
OrphaCode: 497906
DisorderType: Disease
Name: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
OrphaCode: 500180
DisorderType: Disease
Name: Infantile bilateral striatal necrosis
OrphaCode: 1576
DisorderType: Clinical group
Children: Name: Sporadic infantile bilateral striatal necrosis
OrphaCode: 225147
DisorderType: Disease
Name: Familial infantile bilateral striatal necrosis
OrphaCode: 225154
DisorderType: Disease
Name: Huntington disease-like 3
OrphaCode: 157946
DisorderType: Disease
Name: Multiple system atrophy
OrphaCode: 102
DisorderType: Disease
Children: Name: Multiple system atrophy, parkinsonian type
OrphaCode: 98933
DisorderType: Clinical subtype
Name: Multiple system atrophy, cerebellar type
OrphaCode: 227510
DisorderType: Clinical subtype
Name: Progressive muscular atrophy
OrphaCode: 454706
DisorderType: Disease
Name: Proximal myopathy with extrapyramidal signs
OrphaCode: 401768
DisorderType: Disease
Name: Alternating hemiplegia
OrphaCode: 209978
DisorderType: Clinical group
Children: Name: Alternating hemiplegia of childhood
OrphaCode: 2131
DisorderType: Disease
Name: Benign nocturnal alternating hemiplegia of childhood
OrphaCode: 209973
DisorderType: Disease
Name: Inherited congenital spastic tetraplegia
OrphaCode: 210141
DisorderType: Disease
Name: Specific learning disability
OrphaCode: 211047
DisorderType: Clinical group
Children: Name: Specific language disorder
OrphaCode: 211053
DisorderType: Clinical group
Children: Name: Familial developmental dysphasia
OrphaCode: 1799
DisorderType: Clinical syndrome
Name: Isolated childhood apraxia of speech
OrphaCode: 209908
DisorderType: Disease
Name: Gerstmann syndrome
OrphaCode: 221117
DisorderType: Disease
Name: Idiopathic intracranial hypertension
OrphaCode: 238624
DisorderType: Disease
Name: Inherited nervous system cancer-predisposing syndrome
OrphaCode: 252190
DisorderType: Category
Children: Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Li-Fraumeni syndrome
OrphaCode: 524
DisorderType: Disease
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Neurocutaneous melanocytosis
OrphaCode: 2481
DisorderType: Disease
Name: Turcot syndrome with polyposis
OrphaCode: 99818
DisorderType: Clinical subtype
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Constitutional mismatch repair deficiency syndrome
OrphaCode: 252202
DisorderType: Disease
Name: Melanoma and neural system tumor syndrome
OrphaCode: 252206
DisorderType: Disease
Name: Hypothalamic adipsic hypernatraemia syndrome
OrphaCode: 443101
DisorderType: Disease
Name: Neurofibromatosis/schwannomatosis
OrphaCode: 634518
DisorderType: Category
Children: Name: Full schwannomatosis
OrphaCode: 93921
DisorderType: Disease
Name: Mosaic neurofibromatosis type 1
OrphaCode: 634461
DisorderType: Disease
Name: Mosaic NF2-related schwannomatosis
OrphaCode: 634475
DisorderType: Disease
Name: Mosaic schwannomatosis
OrphaCode: 634492
DisorderType: Disease
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Idiopathic recurrent stupor
OrphaCode: 276174
DisorderType: Disease
Name: Worster-Drought syndrome
OrphaCode: 3465
DisorderType: Malformation syndrome
Name: Spontaneous periodic hypothermia
OrphaCode: 29822
DisorderType: Disease
Name: Paraneoplastic neurologic syndrome
OrphaCode: 36388
DisorderType: Category
Children: Name: Opsoclonus-myoclonus syndrome
OrphaCode: 1183
DisorderType: Disease
Name: Lambert-Eaton myasthenic syndrome
OrphaCode: 43393
DisorderType: Disease
Name: Cancer-associated retinopathy
OrphaCode: 71505
DisorderType: Disease
Name: Paraneoplastic sensory ganglionopathy
OrphaCode: 208999
DisorderType: Disease
Name: Paraneoplastic isolated brainstem encephalitis
OrphaCode: 624190
DisorderType: Disease
Name: Paraneoplastic cerebellar degeneration
OrphaCode: 623626
DisorderType: Disease
Name: Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
OrphaCode: 624166
DisorderType: Disease
Name: Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
OrphaCode: 624178
DisorderType: Disease
Name: Autoimmune limbic encephalitis
OrphaCode: 623615
DisorderType: Disease
Name: Rare sleep disorder
OrphaCode: 68354
DisorderType: Category
Children: Name: Glaucoma-sleep apnea syndrome
OrphaCode: 2085
DisorderType: Disease
Name: Idiopathic hypersomnia
OrphaCode: 33208
DisorderType: Disease
Name: Kleine-Levin syndrome
OrphaCode: 33543
DisorderType: Disease
Name: Non-24-hour sleep-wake syndrome
OrphaCode: 73267
DisorderType: Disease
Name: Familial advanced sleep-phase syndrome
OrphaCode: 164736
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
OrphaCode: 420789
DisorderType: Disease
Name: Narcolepsy
OrphaCode: 619284
DisorderType: Clinical group
Children: Name: Narcolepsy type 1
OrphaCode: 2073
DisorderType: Disease
Name: Narcolepsy type 2
OrphaCode: 83465
DisorderType: Disease
Name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
OrphaCode: 600663
DisorderType: Malformation syndrome
Name: Leukodystrophy
OrphaCode: 68356
DisorderType: Category
Children: Name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
OrphaCode: 83629
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: Dermatoleukodystrophy
OrphaCode: 1659
DisorderType: Disease
Name: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 495844
DisorderType: Disease
Name: VPS11-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 466934
DisorderType: Disease
Name: Alexander disease
OrphaCode: 58
DisorderType: Disease
Children: Name: Alexander disease type I
OrphaCode: 363717
DisorderType: Clinical subtype
Name: Alexander disease type II
OrphaCode: 363722
DisorderType: Clinical subtype
Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Pelizaeus-Merzbacher disease
OrphaCode: 702
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher disease, connatal form
OrphaCode: 280210
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, classic form
OrphaCode: 280219
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, transitional form
OrphaCode: 280224
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease in female carriers
OrphaCode: 280229
DisorderType: Clinical subtype
Name: Null syndrome
OrphaCode: 280234
DisorderType: Clinical subtype
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Aicardi-Goutières syndrome
OrphaCode: 51
DisorderType: Disease
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: CACH syndrome
OrphaCode: 135
DisorderType: Disease
Children: Name: Ovarioleukodystrophy
OrphaCode: 99853
DisorderType: Clinical subtype
Name: Cree leukoencephalopathy
OrphaCode: 99854
DisorderType: Clinical subtype
Name: Congenital or early infantile CACH syndrome
OrphaCode: 157713
DisorderType: Clinical subtype
Name: Late infantile CACH syndrome
OrphaCode: 157716
DisorderType: Clinical subtype
Name: Juvenile or adult CACH syndrome
OrphaCode: 157719
DisorderType: Clinical subtype
Name: Megalencephalic leukoencephalopathy with subcortical cysts
OrphaCode: 2478
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Cystic leukoencephalopathy without megalencephaly
OrphaCode: 85136
DisorderType: Disease
Name: Hypomyelination-congenital cataract syndrome
OrphaCode: 85163
DisorderType: Malformation syndrome
Name: Spastic paraplegia type 2
OrphaCode: 99015
DisorderType: Disease
Name: Adult-onset autosomal dominant leukodystrophy
OrphaCode: 99027
DisorderType: Disease
Name: Ravine syndrome
OrphaCode: 99852
DisorderType: Disease
Name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
OrphaCode: 137898
DisorderType: Disease
Name: Hypomyelination with atrophy of basal ganglia and cerebellum
OrphaCode: 139441
DisorderType: Disease
Name: Leukoencephalopathy with bilateral anterior temporal lobe cysts
OrphaCode: 139444
DisorderType: Disease
Name: Progressive cavitating leukoencephalopathy
OrphaCode: 139447
DisorderType: Disease
Name: Leukoencephalopathy-dystonia-motor neuropathy syndrome
OrphaCode: 163684
DisorderType: Disease
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Pelizaeus-Merzbacher-like disease
OrphaCode: 280270
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher-like disease due to GJC2 mutation
OrphaCode: 280282
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
OrphaCode: 280288
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
OrphaCode: 280293
DisorderType: Clinical subtype
Name: 4H leukodystrophy
OrphaCode: 289494
DisorderType: Disease
Children: Name: Odontoleukodystrophy
OrphaCode: 77295
DisorderType: Clinical subtype
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
OrphaCode: 137639
DisorderType: Clinical subtype
Name: Tremor-ataxia-central hypomyelination syndrome
OrphaCode: 447896
DisorderType: Clinical subtype
Name: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
OrphaCode: 447893
DisorderType: Clinical subtype
Name: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
OrphaCode: 313808
DisorderType: Disease
Name: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
OrphaCode: 314051
DisorderType: Disease
Name: Hypomyelination with brain stem and spinal cord involvement and leg spasticity
OrphaCode: 363412
DisorderType: Disease
Name: Leukoencephalopathy with mild cerebellar ataxia and white matter edema
OrphaCode: 363540
DisorderType: Disease
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
OrphaCode: 431361
DisorderType: Disease
Name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
OrphaCode: 436271
DisorderType: Disease
Name: RARS-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 438114
DisorderType: Disease
Name: Ribose-5-P isomerase deficiency
OrphaCode: 440706
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: Alkaline ceramidase 3 deficiency
OrphaCode: 502444
DisorderType: Disease
Name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 527497
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Hypomyelination of early myelinating structures
OrphaCode: 599376
DisorderType: Disease
Name: Episodic memory defect leukoencephalopathy
OrphaCode: 662229
DisorderType: Disease
Name: Adult-onset progressive leukoencephalopathy-early-onset deafness
OrphaCode: 652532
DisorderType: Disease
Name: Neuromuscular disease
OrphaCode: 68381
DisorderType: Category
Children: Name: Muscular channelopathy
OrphaCode: 71864
DisorderType: Category
Children: Name: Autoimmune neurological channelopathy
OrphaCode: 98750
DisorderType: Category
Children: Name: Lambert-Eaton myasthenic syndrome
OrphaCode: 43393
DisorderType: Disease
Name: Morvan syndrome
OrphaCode: 83467
DisorderType: Disease
Name: Isaacs syndrome
OrphaCode: 84142
DisorderType: Disease
Name: Cramp-fasciculation syndrome
OrphaCode: 581271
DisorderType: Disease
Name: Genetic neurological muscular channelopathy
OrphaCode: 98737
DisorderType: Category
Children: Name: Neurological muscular channelopathy due to a genetic sodium channel defect
OrphaCode: 98738
DisorderType: Category
Children: Name: Paramyotonia congenita of Von Eulenburg
OrphaCode: 684
DisorderType: Disease
Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Hyperkalemic periodic paralysis
OrphaCode: 682
DisorderType: Disease
Name: Potassium-aggravated myotonia
OrphaCode: 612
DisorderType: Clinical group
Children: Name: Myotonia fluctuans
OrphaCode: 99734
DisorderType: Disease
Name: Myotonia permanens
OrphaCode: 99735
DisorderType: Disease
Name: Acetazolamide-responsive myotonia
OrphaCode: 99736
DisorderType: Disease
Name: Postsynaptic congenital myasthenic syndromes
OrphaCode: 98913
DisorderType: Etiological subtype
Name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OrphaCode: 562528
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 1
OrphaCode: 1146
DisorderType: Malformation syndrome
Name: Freeman-Sheldon syndrome
OrphaCode: 2053
DisorderType: Malformation syndrome
Name: Hypotonia-speech impairment-severe cognitive delay syndrome
OrphaCode: 371364
DisorderType: Disease
Name: Sheldon-Hall syndrome
OrphaCode: 1147
DisorderType: Malformation syndrome
Name: Neurological muscular channelopathy due to a genetic chloride channel defect
OrphaCode: 98739
DisorderType: Category
Children: Name: Thomsen and Becker disease
OrphaCode: 614
DisorderType: Disease
Name: Neurological muscular channelopathy due to a genetic calcium channel defect
OrphaCode: 98740
DisorderType: Category
Children: Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Periodic paralysis with transient compartment-like syndrome
OrphaCode: 397755
DisorderType: Disease
Name: Neurological muscular channelopathy due to a genetic potassium channel defect
OrphaCode: 98741
DisorderType: Category
Children: Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Andersen-Tawil syndrome
OrphaCode: 37553
DisorderType: Disease
Name: Myoclonus-dystonia syndrome
OrphaCode: 36899
DisorderType: Disease
Name: Hereditary continuous muscle fiber activity
OrphaCode: 972
DisorderType: Disease
Name: Neurological muscular channelopathy due to a genetic ryanodine receptor defect
OrphaCode: 98742
DisorderType: Category
Children: Name: Central core disease
OrphaCode: 597
DisorderType: Disease
Name: Malignant hyperthermia of anesthesia
OrphaCode: 423
DisorderType: Disease
Name: Autosomal recessive centronuclear myopathy
OrphaCode: 169186
DisorderType: Disease
Name: Benign Samaritan congenital myopathy
OrphaCode: 324581
DisorderType: Disease
Name: Congenital multicore myopathy with external ophthalmoplegia
OrphaCode: 98905
DisorderType: Clinical subtype
Name: Congenital myopathy with myasthenic-like onset
OrphaCode: 424107
DisorderType: Disease
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Moderate multiminicore disease with hand involvement
OrphaCode: 178145
DisorderType: Clinical subtype
Name: Skeletal muscle disease
OrphaCode: 98472
DisorderType: Category
Children: Name: Genetic skeletal muscle disease
OrphaCode: 206634
DisorderType: Category
Children: Name: Cyprus facial-neuromusculoskeletal syndrome
OrphaCode: 2674
DisorderType: Malformation syndrome
Name: Tel Hashomer camptodactyly syndrome
OrphaCode: 3292
DisorderType: Malformation syndrome
Name: Intellectual disability-developmental delay-contractures syndrome
OrphaCode: 3454
DisorderType: Malformation syndrome
Name: Distal myopathy
OrphaCode: 599
DisorderType: Category
Children: Name: Autosomal dominant distal myopathy
OrphaCode: 206650
DisorderType: Category
Children: Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Distal myopathy, Welander type
OrphaCode: 603
DisorderType: Disease
Name: Tibial muscular dystrophy
OrphaCode: 609
DisorderType: Disease
Name: Vocal cord and pharyngeal distal myopathy
OrphaCode: 600
DisorderType: Disease
Name: Laing early-onset distal myopathy
OrphaCode: 59135
DisorderType: Disease
Name: Distal myopathy with posterior leg and anterior hand involvement
OrphaCode: 63273
DisorderType: Disease
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Distal myotilinopathy
OrphaCode: 98911
DisorderType: Disease
Name: Late-onset distal myopathy, Markesbery-Griggs type
OrphaCode: 98912
DisorderType: Disease
Name: Adult-onset distal myopathy due to VCP mutation
OrphaCode: 329478
DisorderType: Disease
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Alpha-B crystallin-related late-onset myopathy
OrphaCode: 399058
DisorderType: Disease
Name: KLHL9-related early-onset distal myopathy
OrphaCode: 399081
DisorderType: Disease
Name: Finnish upper limb-onset distal myopathy
OrphaCode: 399086
DisorderType: Disease
Name: Distal myopathy, Tateyama type
OrphaCode: 488650
DisorderType: Disease
Name: Autosomal recessive distal myopathy
OrphaCode: 206653
DisorderType: Category
Children: Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: Miyoshi myopathy
OrphaCode: 45448
DisorderType: Disease
Name: Distal myopathy with anterior tibial onset
OrphaCode: 178400
DisorderType: Disease
Name: Distal anoctaminopathy
OrphaCode: 399096
DisorderType: Disease
Name: Distal nebulin myopathy
OrphaCode: 399103
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Adenylosuccinate synthetase-like 1-related distal myopathy
OrphaCode: 482601
DisorderType: Disease
Name: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
OrphaCode: 88635
DisorderType: Disease
Name: Muscular dystrophy
OrphaCode: 98473
DisorderType: Category
Children: Name: Congenital muscular dystrophy
OrphaCode: 97242
DisorderType: Category
Children: Name: Laminin subunit alpha 2-related congenital muscular dystrophy
OrphaCode: 258
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
OrphaCode: 1875
DisorderType: Disease
Name: Congenital muscular dystrophy with integrin alpha-7 deficiency
OrphaCode: 34520
DisorderType: Disease
Name: Rigid spine syndrome
OrphaCode: 97244
DisorderType: Disease
Name: Congenital muscular dystrophy type 1B
OrphaCode: 98893
DisorderType: Disease
Name: Congenital muscular dystrophy due to LMNA mutation
OrphaCode: 157973
DisorderType: Disease
Name: Congenital myopathy, Paradas type
OrphaCode: 199329
DisorderType: Disease
Name: Megaconial congenital muscular dystrophy
OrphaCode: 280671
DisorderType: Disease
Name: Autosomal recessive myogenic arthrogryposis multiplex congenita
OrphaCode: 319332
DisorderType: Disease
Name: Congenital muscular dystrophy due to dystroglycanopathy
OrphaCode: 370953
DisorderType: Category
Children: Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Congenital muscular dystrophy with cerebellar involvement
OrphaCode: 370959
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability
OrphaCode: 370968
DisorderType: Disease
Name: Congenital muscular dystrophy without intellectual disability
OrphaCode: 370980
DisorderType: Disease
Name: Congenital muscular dystrophy with hyperlaxity
OrphaCode: 371007
DisorderType: Disease
Name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
OrphaCode: 486815
DisorderType: Disease
Name: Collagen VI-related congenital muscular dystrophy
OrphaCode: 646098
DisorderType: Clinical group
Children: Name: Bethlem muscular dystrophy
OrphaCode: 610
DisorderType: Disease
Name: Ullrich congenital muscular dystrophy
OrphaCode: 75840
DisorderType: Disease
Name: Intermediate collagen VI-related muscular dystrophy
OrphaCode: 646113
DisorderType: Disease
Name: Congenital muscular dystrophy-cataract-intellectual disability syndrome
OrphaCode: 662184
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Progressive muscular dystrophy
OrphaCode: 206644
DisorderType: Category
Children: Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Duchenne and Becker muscular dystrophy
OrphaCode: 262
DisorderType: Clinical group
Children: Name: Becker muscular dystrophy
OrphaCode: 98895
DisorderType: Disease
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
Name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
OrphaCode: 206546
DisorderType: Disease
Name: Emery-Dreifuss muscular dystrophy
OrphaCode: 261
DisorderType: Disease
Children: Name: Autosomal dominant Emery-Dreifuss muscular dystrophy
OrphaCode: 98853
DisorderType: Etiological subtype
Name: Autosomal recessive Emery-Dreifuss muscular dystrophy
OrphaCode: 98855
DisorderType: Etiological subtype
Name: X-linked Emery-Dreifuss muscular dystrophy
OrphaCode: 98863
DisorderType: Etiological subtype
Name: Facioscapulohumeral dystrophy
OrphaCode: 269
DisorderType: Disease
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Bethlem muscular dystrophy
OrphaCode: 610
DisorderType: Disease
Name: Oculopharyngeal muscular dystrophy
OrphaCode: 270
DisorderType: Disease
Name: Limb-girdle muscular dystrophy
OrphaCode: 263
DisorderType: Clinical group
Children: Name: Autosomal dominant limb-girdle muscular dystrophy
OrphaCode: 102014
DisorderType: Category
Children: Name: Calpain-3-related limb-girdle muscular dystrophy D4
OrphaCode: 565909
DisorderType: Disease
Name: DNAJB6-related limb-girdle muscular dystrophy D1
OrphaCode: 34516
DisorderType: Disease
Name: TNP03-related limb-girdle muscular dystrophy D2
OrphaCode: 55595
DisorderType: Disease
Name: HNRNPDL-related limb-girdle muscular dystrophy D3
OrphaCode: 55596
DisorderType: Disease
Name: Autosomal recessive limb-girdle muscular dystrophy
OrphaCode: 102015
DisorderType: Category
Children: Name: Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
OrphaCode: 565837
DisorderType: Disease
Name: POGLUT1-related limb-girdle muscular dystrophy R21
OrphaCode: 480682
DisorderType: Disease
Name: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
OrphaCode: 62
DisorderType: Disease
Name: Calpain-3-related limb-girdle muscular dystrophy R1
OrphaCode: 267
DisorderType: Disease
Name: TRIM32-related limb-girdle muscular dystrophy R8
OrphaCode: 1878
DisorderType: Disease
Name: Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
OrphaCode: 119
DisorderType: Disease
Name: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
OrphaCode: 353
DisorderType: Disease
Name: Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
OrphaCode: 219
DisorderType: Disease
Name: Dysferlin-related limb-girdle muscular dystrophy R2
OrphaCode: 268
DisorderType: Disease
Name: Telethonin-related limb-girdle muscular dystrophy R7
OrphaCode: 34514
DisorderType: Disease
Name: FKRP-related limb-girdle muscular dystrophy R9
OrphaCode: 34515
DisorderType: Disease
Name: POMT1-related limb-girdle muscular dystrophy R11
OrphaCode: 86812
DisorderType: Disease
Name: Titin-related limb-girdle muscular dystrophy R10
OrphaCode: 140922
DisorderType: Disease
Name: Anoctamin-5-related limb-girdle muscular dystrophy R12
OrphaCode: 206549
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: POMT2-related limb-girdle muscular dystrophy R14
OrphaCode: 206559
DisorderType: Disease
Name: POMGNT1-related limb-girdle muscular dystrophy R15
OrphaCode: 206564
DisorderType: Disease
Name: Plectin-related limb-girdle muscular dystrophy R17
OrphaCode: 254361
DisorderType: Disease
Name: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
OrphaCode: 280333
DisorderType: Disease
Name: ISPD-related limb-girdle muscular dystrophy R20
OrphaCode: 352479
DisorderType: Disease
Name: GMPPB-related limb-girdle muscular dystrophy R19
OrphaCode: 363623
DisorderType: Disease
Name: TRAPPC11-related limb-girdle muscular dystrophy R18
OrphaCode: 369840
DisorderType: Disease
Name: TOR1AIP1-related limb-girdle muscular dystrophy
OrphaCode: 424261
DisorderType: Disease
Name: Limb-girdle muscular dystrophy due to POMK deficiency
OrphaCode: 445110
DisorderType: Disease
Name: BVES-related limb-girdle muscular dystrophy
OrphaCode: 476084
DisorderType: Disease
Name: Autosomal recessive limb-girdle muscular dystrophy, type 28
OrphaCode: 653725
DisorderType: Disease
Name: POMGNT2-related limb-girdle muscular dystrophy R24
OrphaCode: 565899
DisorderType: Disease
Name: X-linked myopathy with excessive autophagy
OrphaCode: 25980
DisorderType: Disease
Name: Congenital fibrosis of extraocular muscles
OrphaCode: 45358
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: X-linked myopathy with postural muscle atrophy
OrphaCode: 178461
DisorderType: Disease
Name: Hereditary myopathy with early respiratory failure
OrphaCode: 178464
DisorderType: Disease
Name: Myotonic dystrophy
OrphaCode: 206647
DisorderType: Clinical group
Children: Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
OrphaCode: 431263
DisorderType: Clinical group
Children: Name: X-linked scapuloperoneal muscular dystrophy
OrphaCode: 431272
DisorderType: Disease
Name: Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
OrphaCode: 466921
DisorderType: Disease
Name: Progressive scapulohumeroperoneal distal myopathy
OrphaCode: 447977
DisorderType: Disease
Name: Non-dystrophic myopathy
OrphaCode: 206656
DisorderType: Category
Children: Name: Proximal myopathy with focal depletion of mitochondria
OrphaCode: 521305
DisorderType: Disease
Name: Myofibrillar myopathy
OrphaCode: 593
DisorderType: Category
Children: Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Alpha-crystallinopathy
OrphaCode: 98910
DisorderType: Clinical group
Children: Name: Fatal infantile hypertonic myofibrillar myopathy
OrphaCode: 280553
DisorderType: Disease
Name: Alpha-B crystallin-related late-onset myopathy
OrphaCode: 399058
DisorderType: Disease
Name: Myotilinopathy
OrphaCode: 209224
DisorderType: Category
Children: Name: Spheroid body myopathy
OrphaCode: 268129
DisorderType: Disease
Name: Autosomal dominant limb-girdle muscular dystrophy type 1A
OrphaCode: 266
DisorderType: Disease
Name: Distal myotilinopathy
OrphaCode: 98911
DisorderType: Disease
Name: Late-onset distal myopathy, Markesbery-Griggs type
OrphaCode: 98912
DisorderType: Disease
Name: Muscle filaminopathy
OrphaCode: 171445
DisorderType: Disease
Name: Muscular dystrophy, Selcen type
OrphaCode: 199340
DisorderType: Disease
Name: Hypercontractile muscle stiffness syndrome
OrphaCode: 476403
DisorderType: Clinical group
Children: Name: Congenital generalized hypercontractile muscle stiffness syndrome
OrphaCode: 476406
DisorderType: Disease
Name: Fatal infantile hypertonic myofibrillar myopathy
OrphaCode: 280553
DisorderType: Disease
Name: Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
OrphaCode: 496686
DisorderType: Disease
Name: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
OrphaCode: 476093
DisorderType: Disease
Name: Hereditary continuous muscle fiber activity
OrphaCode: 972
DisorderType: Disease
Name: Brody myopathy
OrphaCode: 53347
DisorderType: Disease
Name: Rippling muscle disease
OrphaCode: 97238
DisorderType: Disease
Name: Congenital myopathy
OrphaCode: 97245
DisorderType: Category
Children: Name: Qazi-Markouizos syndrome
OrphaCode: 3010
DisorderType: Disease
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Congenital fiber-type disproportion myopathy
OrphaCode: 2020
DisorderType: Disease
Name: Tubular aggregate myopathy
OrphaCode: 2593
DisorderType: Disease
Name: Intellectual disability-myopathy-short stature-endocrine defect syndrome
OrphaCode: 3068
DisorderType: Disease
Name: Centronuclear myopathy
OrphaCode: 595
DisorderType: Clinical group
Children: Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: Autosomal recessive centronuclear myopathy
OrphaCode: 169186
DisorderType: Disease
Name: Autosomal dominant centronuclear myopathy
OrphaCode: 169189
DisorderType: Disease
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: Symptomatic form of X-linked centronuclear myopathy in female carriers
OrphaCode: 604680
DisorderType: Disease
Name: Congenital myopathy with internal nuclei and atypical cores
OrphaCode: 319160
DisorderType: Disease
Name: Myosin storage myopathy
OrphaCode: 53698
DisorderType: Disease
Children: Name: Autosomal dominant myosin storage myopathy
OrphaCode: 636965
DisorderType: Clinical subtype
Name: Autosomal recessive myosin storage myopathy
OrphaCode: 636970
DisorderType: Clinical subtype
Name: Fingerprint body myopathy
OrphaCode: 97232
DisorderType: Disease
Name: Reducing body myopathy
OrphaCode: 97239
DisorderType: Disease
Name: Zebra body myopathy
OrphaCode: 97240
DisorderType: Disease
Name: Congenital myopathy with excess of thin filaments
OrphaCode: 98904
DisorderType: Disease
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Native American myopathy
OrphaCode: 168572
DisorderType: Malformation syndrome
Name: Cap myopathy
OrphaCode: 171881
DisorderType: Disease
Name: Cylindrical spirals myopathy
OrphaCode: 171886
DisorderType: Disease
Name: Myopathy with hexagonally cross-linked tubular arrays
OrphaCode: 171889
DisorderType: Disease
Name: Congenital myopathy with cores
OrphaCode: 172976
DisorderType: Clinical group
Children: Name: Central core disease
OrphaCode: 597
DisorderType: Disease
Name: Multiminicore myopathy
OrphaCode: 598
DisorderType: Disease
Children: Name: Congenital multicore myopathy with external ophthalmoplegia
OrphaCode: 98905
DisorderType: Clinical subtype
Name: Moderate multiminicore disease with hand involvement
OrphaCode: 178145
DisorderType: Clinical subtype
Name: Antenatal multiminicore disease with arthrogryposis multiplex congenita
OrphaCode: 178148
DisorderType: Clinical subtype
Name: Classic multiminicore myopathy
OrphaCode: 324604
DisorderType: Clinical subtype
Name: Congenital myopathy with internal nuclei and atypical cores
OrphaCode: 319160
DisorderType: Disease
Name: Congenital lethal myopathy, Compton-North type
OrphaCode: 210163
DisorderType: Disease
Name: Benign Samaritan congenital myopathy
OrphaCode: 324581
DisorderType: Disease
Name: Fetal akinesia-cerebral and retinal hemorrhage syndrome
OrphaCode: 363409
DisorderType: Disease
Name: Congenital myopathy with myasthenic-like onset
OrphaCode: 424107
DisorderType: Disease
Name: Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
OrphaCode: 439212
DisorderType: Disease
Name: Congenital myopathy with reduced type 2 muscle fibers
OrphaCode: 544602
DisorderType: Disease
Name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
OrphaCode: 447974
DisorderType: Malformation syndrome
Name: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
OrphaCode: 467176
DisorderType: Disease
Name: Congenital nemaline myopathy
OrphaCode: 457074
DisorderType: Clinical group
Children: Name: Amish nemaline myopathy
OrphaCode: 98902
DisorderType: Disease
Name: Severe congenital nemaline myopathy
OrphaCode: 171430
DisorderType: Disease
Name: Intermediate nemaline myopathy
OrphaCode: 171433
DisorderType: Disease
Name: Typical nemaline myopathy
OrphaCode: 171436
DisorderType: Disease
Name: Metabolic myopathy
OrphaCode: 98486
DisorderType: Category
Children: Name: Mitochondrial myopathy
OrphaCode: 206966
DisorderType: Category
Children: Name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
OrphaCode: 502423
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: Adenosine monophosphate deaminase deficiency
OrphaCode: 45
DisorderType: Disease
Name: Barth syndrome
OrphaCode: 111
DisorderType: Disease
Name: Mitochondrial myopathy-lactic acidosis-deafness syndrome
OrphaCode: 2597
DisorderType: Disease
Name: Mitochondrial myopathy and sideroblastic anemia
OrphaCode: 2598
DisorderType: Disease
Name: Mitochondrial trifunctional protein deficiency
OrphaCode: 746
DisorderType: Disease
Name: Isolated succinate-CoQ reductase deficiency
OrphaCode: 3208
DisorderType: Disease
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
OrphaCode: 70595
DisorderType: Disease
Name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
OrphaCode: 329314
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: DNA2-related mitochondrial DNA deletion syndrome
OrphaCode: 352470
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, myopathic form
OrphaCode: 254875
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: Autosomal dominant mitochondrial myopathy with exercise intolerance
OrphaCode: 457050
DisorderType: Disease
Name: Hereditary myopathy with lactic acidosis due to ISCU deficiency
OrphaCode: 43115
DisorderType: Disease
Name: Metabolic myopathy due to lactate transporter defect
OrphaCode: 171690
DisorderType: Disease
Name: Muscular lipidosis
OrphaCode: 206953
DisorderType: Category
Children: Name: Carnitine palmitoyltransferase II deficiency
OrphaCode: 157
DisorderType: Disease
Children: Name: Carnitine palmitoyl transferase II deficiency, myopathic form
OrphaCode: 228302
DisorderType: Clinical subtype
Name: Carnitine palmitoyl transferase II deficiency, severe infantile form
OrphaCode: 228305
DisorderType: Clinical subtype
Name: Carnitine palmitoyl transferase II deficiency, neonatal form
OrphaCode: 228308
DisorderType: Clinical subtype
Name: Neutral lipid storage disease
OrphaCode: 165
DisorderType: Clinical group
Children: Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: Neutral lipid storage disease with myopathy
OrphaCode: 98908
DisorderType: Disease
Name: Primary triglyceride deposit cardiomyovasculopathy
OrphaCode: 565612
DisorderType: Disease
Name: Systemic primary carnitine deficiency
OrphaCode: 158
DisorderType: Disease
Name: Myopathy and diabetes mellitus
OrphaCode: 2596
DisorderType: Disease
Name: Multiple acyl-CoA dehydrogenase deficiency
OrphaCode: 26791
DisorderType: Disease
Children: Name: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
OrphaCode: 394529
DisorderType: Clinical subtype
Name: Multiple acyl-CoA dehydrogenase deficiency, mild type
OrphaCode: 394532
DisorderType: Clinical subtype
Name: Short chain acyl-CoA dehydrogenase deficiency
OrphaCode: 26792
DisorderType: Disease
Name: Very long chain acyl-CoA dehydrogenase deficiency
OrphaCode: 26793
DisorderType: Disease
Name: Genetic recurrent myoglobinuria
OrphaCode: 99845
DisorderType: Disease
Name: Autosomal dominant myoglobinuria
OrphaCode: 99846
DisorderType: Disease
Name: Muscular glycogenosis
OrphaCode: 206959
DisorderType: Clinical group
Children: Name: Glycogen storage disease due to acid maltase deficiency
OrphaCode: 365
DisorderType: Disease
Children: Name: Glycogen storage disease due to acid maltase deficiency, infantile onset
OrphaCode: 308552
DisorderType: Clinical subtype
Name: Glycogen storage disease due to acid maltase deficiency, late-onset
OrphaCode: 420429
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen debranching enzyme deficiency
OrphaCode: 366
DisorderType: Disease
Name: Glycogen storage disease due to glycogen branching enzyme deficiency
OrphaCode: 367
DisorderType: Disease
Children: Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
OrphaCode: 308621
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
OrphaCode: 308638
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
OrphaCode: 308655
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
OrphaCode: 308670
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
OrphaCode: 308684
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
OrphaCode: 308698
DisorderType: Clinical subtype
Name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
OrphaCode: 308712
DisorderType: Clinical subtype
Name: Glycogen storage disease due to muscle glycogen phosphorylase deficiency
OrphaCode: 368
DisorderType: Disease
Name: Glycogen storage disease due to muscle phosphofructokinase deficiency
OrphaCode: 371
DisorderType: Disease
Name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
OrphaCode: 715
DisorderType: Disease
Name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OrphaCode: 713
DisorderType: Disease
Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
OrphaCode: 79240
DisorderType: Disease
Name: Glycogen storage disease due to phosphoglycerate mutase deficiency
OrphaCode: 97234
DisorderType: Disease
Name: Glycogen storage disease due to muscle beta-enolase deficiency
OrphaCode: 99849
DisorderType: Disease
Name: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
OrphaCode: 263297
DisorderType: Disease
Name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
OrphaCode: 284426
DisorderType: Clinical subtype
Name: Polyglucosan body myopathy type 1
OrphaCode: 397937
DisorderType: Disease
Name: Polyglucosan body myopathy type 2
OrphaCode: 456369
DisorderType: Disease
Name: Myosclerosis
OrphaCode: 289380
DisorderType: Disease
Name: Inclusion myopathy
OrphaCode: 206662
DisorderType: Category
Children: Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: X-linked myopathy with excessive autophagy
OrphaCode: 25980
DisorderType: Disease
Name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
OrphaCode: 52430
DisorderType: Disease
Name: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
OrphaCode: 79091
DisorderType: Disease
Name: Desmin-related myopathy with Mallory body-like inclusions
OrphaCode: 84132
DisorderType: Disease
Name: Desminopathy
OrphaCode: 98909
DisorderType: Disease
Name: Hereditary myopathy with early respiratory failure
OrphaCode: 178464
DisorderType: Disease
Name: Hereditary inclusion body myopathy type 4
OrphaCode: 324381
DisorderType: Disease
Name: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
OrphaCode: 363677
DisorderType: Disease
Name: Early-onset myopathy with fatal cardiomyopathy
OrphaCode: 289377
DisorderType: Disease
Name: Proximal myopathy with extrapyramidal signs
OrphaCode: 401768
DisorderType: Disease
Name: Nemaline myopathy
OrphaCode: 607
DisorderType: Clinical group
Children: Name: Amish nemaline myopathy
OrphaCode: 98902
DisorderType: Disease
Name: Severe congenital nemaline myopathy
OrphaCode: 171430
DisorderType: Disease
Name: Intermediate nemaline myopathy
OrphaCode: 171433
DisorderType: Disease
Name: Typical nemaline myopathy
OrphaCode: 171436
DisorderType: Disease
Name: Childhood-onset nemaline myopathy
OrphaCode: 171439
DisorderType: Disease
Name: Adult-onset nemaline myopathy
OrphaCode: 171442
DisorderType: Disease
Name: Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
OrphaCode: 221043
DisorderType: Disease
Name: Myotonic syndrome
OrphaCode: 206970
DisorderType: Category
Children: Name: Paramyotonia congenita of Von Eulenburg
OrphaCode: 684
DisorderType: Disease
Name: Potassium-aggravated myotonia
OrphaCode: 612
DisorderType: Clinical group
Children: Name: Myotonia fluctuans
OrphaCode: 99734
DisorderType: Disease
Name: Myotonia permanens
OrphaCode: 99735
DisorderType: Disease
Name: Acetazolamide-responsive myotonia
OrphaCode: 99736
DisorderType: Disease
Name: Myotonic dystrophy
OrphaCode: 206647
DisorderType: Clinical group
Children: Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Congenital myotonia
OrphaCode: 206973
DisorderType: Clinical group
Children: Name: Thomsen and Becker disease
OrphaCode: 614
DisorderType: Disease
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Periodic paralysis
OrphaCode: 206976
DisorderType: Clinical group
Children: Name: Hypokalemic periodic paralysis
OrphaCode: 681
DisorderType: Disease
Name: Hyperkalemic periodic paralysis
OrphaCode: 682
DisorderType: Disease
Name: Andersen-Tawil syndrome
OrphaCode: 37553
DisorderType: Disease
Name: Thyrotoxic periodic paralysis
OrphaCode: 79102
DisorderType: Disease
Name: Periodic paralysis with later-onset distal motor neuropathy
OrphaCode: 397750
DisorderType: Disease
Name: Periodic paralysis with transient compartment-like syndrome
OrphaCode: 397755
DisorderType: Disease
Name: Acquired skeletal muscle disease
OrphaCode: 206638
DisorderType: Category
Children: Name: Idiopathic camptocormia
OrphaCode: 1320
DisorderType: Morphological anomaly
Name: Macrophagic myofasciitis
OrphaCode: 592
DisorderType: Disease
Name: Idiopathic inflammatory myopathy
OrphaCode: 98482
DisorderType: Category
Children: Name: Inclusion body myositis
OrphaCode: 611
DisorderType: Disease
Name: Polymyositis
OrphaCode: 732
DisorderType: Disease
Name: Dermatomyositis
OrphaCode: 221
DisorderType: Disease
Children: Name: Amyopathic dermatomyositis
OrphaCode: 645617
DisorderType: Clinical subtype
Name: Adermatopathic dermatomyositis
OrphaCode: 645626
DisorderType: Clinical subtype
Name: Classical dermatomyositis
OrphaCode: 645613
DisorderType: Clinical subtype
Name: Eosinophilic fasciitis
OrphaCode: 3165
DisorderType: Disease
Name: Antisynthetase syndrome
OrphaCode: 81
DisorderType: Disease
Name: Focal myositis
OrphaCode: 48918
DisorderType: Disease
Name: Immune-mediated necrotizing myopathy
OrphaCode: 206569
DisorderType: Disease
Name: Overlap myositis
OrphaCode: 206572
DisorderType: Disease
Name: Inflammatory myopathy with abundant macrophages
OrphaCode: 247718
DisorderType: Disease
Name: Idiopathic eosinophilic myositis
OrphaCode: 247724
DisorderType: Disease
Name: Juvenile idiopathic inflammatory myopathy
OrphaCode: 329888
DisorderType: Category
Children: Name: Juvenile polymyositis
OrphaCode: 93568
DisorderType: Disease
Name: Juvenile dermatomyositis
OrphaCode: 93672
DisorderType: Disease
Name: Juvenile overlap myositis
OrphaCode: 329894
DisorderType: Disease
Name: Muscular tumor
OrphaCode: 206982
DisorderType: Category
Children: Name: Rhabdomyosarcoma
OrphaCode: 780
DisorderType: Disease
Children: Name: Alveolar rhabdomyosarcoma
OrphaCode: 99756
DisorderType: Clinical subtype
Name: Pleomorphic rhabdomyosarcoma
OrphaCode: 293199
DisorderType: Clinical subtype
Name: Embryonal rhabdomyosarcoma
OrphaCode: 99757
DisorderType: Clinical subtype
Name: Infantile myofibromatosis
OrphaCode: 2591
DisorderType: Disease
Name: Myxofibrosarcoma
OrphaCode: 79105
DisorderType: Disease
Name: Infectious, fungal or parasitic myopathy
OrphaCode: 206988
DisorderType: Category
Children: Name: Viral myositis
OrphaCode: 206991
DisorderType: Disease
Name: Bacterial myositis
OrphaCode: 206994
DisorderType: Disease
Name: Parasitic myositis
OrphaCode: 206997
DisorderType: Category
Children: Name: Trichinellosis
OrphaCode: 863
DisorderType: Disease
Name: Fungal myositis
OrphaCode: 207000
DisorderType: Disease
Name: Idiopathic dropped head syndrome
OrphaCode: 447881
DisorderType: Clinical syndrome
Name: Neuromuscular junction disease
OrphaCode: 98491
DisorderType: Category
Children: Name: Acquired neuromuscular junction disease
OrphaCode: 98494
DisorderType: Category
Children: Name: Botulism
OrphaCode: 1267
DisorderType: Disease
Children: Name: Foodborne botulism
OrphaCode: 228371
DisorderType: Clinical subtype
Name: Toxin-mediated infectious botulism
OrphaCode: 230800
DisorderType: Clinical subtype
Children: Name: Wound botulism
OrphaCode: 178475
DisorderType: Etiological subtype
Name: Intestinal botulism
OrphaCode: 178481
DisorderType: Clinical subtype
Children: Name: Infant botulism
OrphaCode: 178478
DisorderType: Clinical subtype
Name: Adult intestinal botulism
OrphaCode: 178487
DisorderType: Clinical subtype
Name: Inhalational botulism
OrphaCode: 254504
DisorderType: Clinical subtype
Name: Iatrogenic botulism
OrphaCode: 254509
DisorderType: Clinical subtype
Name: Immune-mediated acquired neuromuscular junction disease
OrphaCode: 464764
DisorderType: Clinical group
Children: Name: Myasthenia gravis
OrphaCode: 589
DisorderType: Disease
Children: Name: Adult-onset myasthenia gravis
OrphaCode: 391490
DisorderType: Clinical subtype
Name: Juvenile myasthenia gravis
OrphaCode: 391497
DisorderType: Clinical subtype
Name: Transient neonatal myasthenia gravis
OrphaCode: 391504
DisorderType: Clinical subtype
Name: Lambert-Eaton myasthenic syndrome
OrphaCode: 43393
DisorderType: Disease
Name: Rippling muscle disease with myasthenia gravis
OrphaCode: 206575
DisorderType: Disease
Name: Genetic neuromuscular junction disease
OrphaCode: 98495
DisorderType: Category
Children: Name: Congenital myasthenic syndrome
OrphaCode: 590
DisorderType: Disease
Children: Name: Postsynaptic congenital myasthenic syndromes
OrphaCode: 98913
DisorderType: Etiological subtype
Name: Presynaptic congenital myasthenic syndromes
OrphaCode: 98914
DisorderType: Etiological subtype
Name: Synaptic congenital myasthenic syndromes
OrphaCode: 98915
DisorderType: Etiological subtype
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: Motor neuron disease
OrphaCode: 98503
DisorderType: Category
Children: Name: Amyotrophic lateral sclerosis
OrphaCode: 803
DisorderType: Disease
Name: Primary lateral sclerosis
OrphaCode: 35689
DisorderType: Disease
Name: Genetic motor neuron disease
OrphaCode: 98505
DisorderType: Category
Children: Name: Distal hereditary motor neuropathy
OrphaCode: 53739
DisorderType: Clinical group
Children: Name: Autosomal dominant distal hereditary motor neuropathy
OrphaCode: 140465
DisorderType: Category
Children: Name: Autosomal dominant congenital benign spinal muscular atrophy
OrphaCode: 1216
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 17
OrphaCode: 100998
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 1
OrphaCode: 139518
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 2
OrphaCode: 139525
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 5
OrphaCode: 139536
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 7
OrphaCode: 139589
DisorderType: Disease
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
OrphaCode: 476093
DisorderType: Disease
Name: Autosomal recessive distal hereditary motor neuropathy
OrphaCode: 140468
DisorderType: Category
Children: Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Spinal muscular atrophy with respiratory distress type 1
OrphaCode: 98920
DisorderType: Disease
Name: Distal spinal muscular atrophy type 3
OrphaCode: 139547
DisorderType: Disease
Name: Distal hereditary motor neuropathy, Jerash type
OrphaCode: 139552
DisorderType: Disease
Name: Young adult-onset distal hereditary motor neuropathy
OrphaCode: 314485
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: X-linked distal hereditary motor neuropathy
OrphaCode: 404538
DisorderType: Category
Children: Name: Infantile-onset X-linked spinal muscular atrophy
OrphaCode: 1145
DisorderType: Disease
Name: X-linked distal spinal muscular atrophy type 3
OrphaCode: 139557
DisorderType: Disease
Name: Spinal muscular atrophy with respiratory distress type 2
OrphaCode: 404521
DisorderType: Disease
Name: Neurogenic scapuloperoneal syndrome, Kaeser type
OrphaCode: 85146
DisorderType: Disease
Name: Madras motor neuron disease
OrphaCode: 137867
DisorderType: Disease
Name: Bulbospinal muscular atrophy
OrphaCode: 206701
DisorderType: Category
Children: Name: Bulbospinal muscular atrophy of childhood
OrphaCode: 206704
DisorderType: Clinical group
Children: Name: Riboflavin transporter deficiency
OrphaCode: 97229
DisorderType: Malformation syndrome
Children: Name: RFVT2-related riboflavin transporter deficiency
OrphaCode: 572543
DisorderType: Clinical subtype
Name: RFVT3-related riboflavin transporter deficiency
OrphaCode: 572550
DisorderType: Clinical subtype
Name: Bulbospinal muscular atrophy of adult
OrphaCode: 206707
DisorderType: Clinical group
Children: Name: Kennedy disease
OrphaCode: 481
DisorderType: Disease
Name: Generalized bulbospinal muscular atrophy
OrphaCode: 206710
DisorderType: Clinical group
Children: Name: Spinal atrophy-ophthalmoplegia-pyramidal syndrome
OrphaCode: 1217
DisorderType: Disease
Name: Autosomal recessive lower motor neuron disease with childhood onset
OrphaCode: 206580
DisorderType: Disease
Name: Spinal muscular atrophy associated with central nervous system anomaly
OrphaCode: 207012
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Pontocerebellar hypoplasia type 2
OrphaCode: 2524
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 1
OrphaCode: 2254
DisorderType: Malformation syndrome
Name: Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
OrphaCode: 73245
DisorderType: Malformation syndrome
Name: Autosomal dominant proximal spinal muscular atrophy
OrphaCode: 211037
DisorderType: Clinical group
Children: Name: Autosomal dominant adult-onset proximal spinal muscular atrophy
OrphaCode: 209335
DisorderType: Disease
Name: Lower motor neuron syndrome with late-adult onset
OrphaCode: 276435
DisorderType: Disease
Name: Autosomal dominant childhood-onset proximal spinal muscular atrophy
OrphaCode: 363447
DisorderType: Disease
Children: Name: DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
OrphaCode: 209341
DisorderType: Etiological subtype
Name: BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
OrphaCode: 363454
DisorderType: Etiological subtype
Name: Juvenile primary lateral sclerosis
OrphaCode: 247604
DisorderType: Disease
Name: Infantile-onset ascending hereditary spastic paralysis
OrphaCode: 293168
DisorderType: Disease
Name: Juvenile amyotrophic lateral sclerosis
OrphaCode: 300605
DisorderType: Disease
Name: Amyotrophic lateral sclerosis type 4
OrphaCode: 357043
DisorderType: Disease
Name: Scapuloperoneal spinal muscular atrophy
OrphaCode: 431255
DisorderType: Disease
Name: Proximal spinal muscular atrophy
OrphaCode: 70
DisorderType: Disease
Children: Name: Proximal spinal muscular atrophy type 1
OrphaCode: 83330
DisorderType: Clinical subtype
Name: Proximal spinal muscular atrophy type 2
OrphaCode: 83418
DisorderType: Clinical subtype
Name: Proximal spinal muscular atrophy type 3
OrphaCode: 83419
DisorderType: Clinical subtype
Name: Proximal spinal muscular atrophy type 4
OrphaCode: 83420
DisorderType: Clinical subtype
Name: Prenatal-onset spinal muscular atrophy with congenital bone fractures
OrphaCode: 486811
DisorderType: Disease
Name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
OrphaCode: 2590
DisorderType: Disease
Name: Acquired motor neuron disease
OrphaCode: 98506
DisorderType: Category
Children: Name: Poliomyelitis
OrphaCode: 2912
DisorderType: Disease
Name: Postpoliomyelitis syndrome
OrphaCode: 2942
DisorderType: Disease
Name: Monomelic amyotrophy
OrphaCode: 65684
DisorderType: Disease
Name: Mills syndrome
OrphaCode: 94091
DisorderType: Disease
Name: O'Sullivan-McLeod syndrome
OrphaCode: 99965
DisorderType: Disease
Name: Progressive muscular atrophy
OrphaCode: 454706
DisorderType: Disease
Name: Neurometabolic disease
OrphaCode: 68385
DisorderType: Category
Children: Name: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
OrphaCode: 615964
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, myopathic form
OrphaCode: 254875
DisorderType: Disease
Name: Autosomal dominant progressive external ophthalmoplegia
OrphaCode: 254892
DisorderType: Disease
Name: Autosomal recessive progressive external ophthalmoplegia
OrphaCode: 254886
DisorderType: Disease
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: Spastic paraparesis-cataracts-speech delay syndrome
OrphaCode: 615938
DisorderType: Clinical syndrome
Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Canavan disease
OrphaCode: 141
DisorderType: Disease
Children: Name: Severe Canavan disease
OrphaCode: 314911
DisorderType: Clinical subtype
Name: Mild Canavan disease
OrphaCode: 314918
DisorderType: Clinical subtype
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Krabbe disease
OrphaCode: 487
DisorderType: Disease
Children: Name: Late-infantile/juvenile Krabbe disease
OrphaCode: 206443
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Infantile Krabbe disease
OrphaCode: 206436
DisorderType: Clinical subtype
Name: Sialidosis type 1
OrphaCode: 812
DisorderType: Disease
Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Triose phosphate-isomerase deficiency
OrphaCode: 868
DisorderType: Disease
Name: Neurodegeneration with brain iron accumulation
OrphaCode: 385
DisorderType: Clinical group
Children: Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Succinic semialdehyde dehydrogenase deficiency
OrphaCode: 22
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Spastic ataxia-dysarthria due to glutaminase deficiency
OrphaCode: 557056
DisorderType: Disease
Name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
OrphaCode: 544488
DisorderType: Disease
Name: NAD(P)HX dehydratase deficiency
OrphaCode: 555402
DisorderType: Disease
Name: NAD(P)HX epimerase deficiency
OrphaCode: 555407
DisorderType: Disease
Name: 1p36.33 duplication syndrome
OrphaCode: 656279
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: Disorder of pterin metabolism
OrphaCode: 309819
DisorderType: Category
Children: Name: Dopa-responsive dystonia
OrphaCode: 255
DisorderType: Clinical group
Children: Name: Autosomal recessive dopa-responsive dystonia
OrphaCode: 101150
DisorderType: Disease
Name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
OrphaCode: 70594
DisorderType: Disease
Name: Autosomal dominant dopa-responsive dystonia
OrphaCode: 98808
DisorderType: Disease
Name: Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
OrphaCode: 238583
DisorderType: Disease
Children: Name: Dihydropteridine reductase deficiency
OrphaCode: 226
DisorderType: Clinical subtype
Name: 6-pyruvoyl-tetrahydropterin synthase deficiency
OrphaCode: 13
DisorderType: Clinical subtype
Name: GTP cyclohydrolase I deficiency
OrphaCode: 2102
DisorderType: Clinical subtype
Name: Pterin-4 alpha-carbinolamine dehydratase deficiency
OrphaCode: 1578
DisorderType: Clinical subtype
Name: Hyperphenylalaninemia due to DNAJC12 deficiency
OrphaCode: 508523
DisorderType: Disease
Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Lipoyl transferase 2 deficiency
OrphaCode: 447795
DisorderType: Biological anomaly
Name: Multiple mitochondrial dysfunctions syndrome
OrphaCode: 289573
DisorderType: Clinical group
Children: Name: Multiple mitochondrial dysfunctions syndrome type 5
OrphaCode: 569274
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 6
OrphaCode: 569290
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 1
OrphaCode: 401869
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 2
OrphaCode: 401874
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 3
OrphaCode: 363424
DisorderType: Disease
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
DisorderType: Disease
Name: Galactosialidosis
OrphaCode: 351
DisorderType: Disease
Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
Name: Free sialic acid storage disease
OrphaCode: 834
DisorderType: Disease
Children: Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: Intermediate severe Salla disease
OrphaCode: 309331
DisorderType: Clinical subtype
Name: Salla disease
OrphaCode: 309334
DisorderType: Clinical subtype
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Phenylketonuria
OrphaCode: 716
DisorderType: Disease
Children: Name: Mild phenylketonuria
OrphaCode: 79253
DisorderType: Clinical subtype
Name: Classic phenylketonuria
OrphaCode: 79254
DisorderType: Clinical subtype
Name: Mild hyperphenylalaninemia
OrphaCode: 79651
DisorderType: Clinical subtype
Name: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
OrphaCode: 293284
DisorderType: Clinical subtype
Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Pyridoxine-dependent epilepsy
OrphaCode: 3006
DisorderType: Disease
Name: Oxoglutaric aciduria
OrphaCode: 31
DisorderType: Disease
Name: Guanidinoacetate methyltransferase deficiency
OrphaCode: 382
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Monoamine oxidase A deficiency
OrphaCode: 3057
DisorderType: Disease
Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: 2-hydroxyglutaric aciduria
OrphaCode: 19
DisorderType: Clinical group
Children: Name: L-2-hydroxyglutaric aciduria
OrphaCode: 79314
DisorderType: Disease
Name: D-2-hydroxyglutaric aciduria
OrphaCode: 79315
DisorderType: Disease
Name: D,L-2-hydroxyglutaric aciduria
OrphaCode: 356978
DisorderType: Disease
Name: Homocystinuria without methylmalonic aciduria
OrphaCode: 622
DisorderType: Disease
Children: Name: Methylcobalamin deficiency type cblE
OrphaCode: 2169
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblG
OrphaCode: 2170
DisorderType: Clinical subtype
Name: Methylcobalamin deficiency type cblDv1
OrphaCode: 308380
DisorderType: Clinical subtype
Name: Fumaric aciduria
OrphaCode: 24
DisorderType: Disease
Name: Glycine encephalopathy
OrphaCode: 407
DisorderType: Disease
Children: Name: Neonatal glycine encephalopathy
OrphaCode: 289857
DisorderType: Clinical subtype
Name: Infantile glycine encephalopathy
OrphaCode: 289860
DisorderType: Clinical subtype
Name: Atypical glycine encephalopathy
OrphaCode: 289863
DisorderType: Clinical subtype
Name: Glutaryl-CoA dehydrogenase deficiency
OrphaCode: 25
DisorderType: Disease
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Gamma-aminobutyric acid transaminase deficiency
OrphaCode: 2066
DisorderType: Disease
Name: Hyperprolinemia type 1
OrphaCode: 419
DisorderType: Disease
Name: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: Coenzyme Q10 deficiency
OrphaCode: 35656
DisorderType: Clinical group
Children: Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
OrphaCode: 254898
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: L-Arginine:glycine amidinotransferase deficiency
OrphaCode: 35704
DisorderType: Disease
Name: Neurometabolic disorder due to serine deficiency
OrphaCode: 35705
DisorderType: Category
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
OrphaCode: 447997
DisorderType: Disease
Name: Serine biosynthesis pathway deficiency, infantile/juvenile form
OrphaCode: 583595
DisorderType: Disease
Children: Name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
OrphaCode: 79351
DisorderType: Etiological subtype
Name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
OrphaCode: 79350
DisorderType: Etiological subtype
Name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
OrphaCode: 284417
DisorderType: Etiological subtype
Name: Aromatic L-amino acid decarboxylase deficiency
OrphaCode: 35708
DisorderType: Disease
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Biotin-thiamine-responsive basal ganglia disease
OrphaCode: 65284
DisorderType: Disease
Name: Beta-ureidopropionase deficiency
OrphaCode: 65287
DisorderType: Disease
Name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OrphaCode: 71212
DisorderType: Disease
Name: Classic glucose transporter type 1 deficiency syndrome
OrphaCode: 71277
DisorderType: Disease
Name: Congenital brain dysgenesis due to glutamine synthetase deficiency
OrphaCode: 71278
DisorderType: Disease
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Pyridoxal phosphate-responsive seizures
OrphaCode: 79096
DisorderType: Disease
Name: Folinic acid-responsive seizures
OrphaCode: 79097
DisorderType: Disease
Name: Hyperprolinemia type 2
OrphaCode: 79101
DisorderType: Disease
Name: Hydroxykynureninuria
OrphaCode: 79155
DisorderType: Disease
Name: 2-methylbutyryl-CoA dehydrogenase deficiency
OrphaCode: 79157
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
OrphaCode: 88639
DisorderType: Disease
Name: Aminoacylase 1 deficiency
OrphaCode: 137754
DisorderType: Disease
Name: Encephalopathy due to prosaposin deficiency
OrphaCode: 139406
DisorderType: Disease
Name: FASTKD2-related infantile mitochondrial encephalomyopathy
OrphaCode: 166105
DisorderType: Disease
Name: Methionine adenosyltransferase I/III deficiency
OrphaCode: 168598
DisorderType: Disease
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: Urocanic aciduria
OrphaCode: 210128
DisorderType: Disease
Name: Severe X-linked mitochondrial encephalomyopathy
OrphaCode: 238329
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form
OrphaCode: 254803
DisorderType: Clinical group
Children: Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
OrphaCode: 1933
DisorderType: Disease
Name: Fatal infantile lactic acidosis with methylmalonic aciduria
OrphaCode: 17
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
OrphaCode: 255235
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
OrphaCode: 369897
DisorderType: Disease
Name: Mitochondrial DNA-associated Leigh syndrome
OrphaCode: 255210
DisorderType: Disease
Name: Hypermethioninemia encephalopathy due to adenosine kinase deficiency
OrphaCode: 289290
DisorderType: Disease
Name: Transient hyperammonemia of the newborn
OrphaCode: 289877
DisorderType: Particular clinical situation in a disease or syndrome
Name: Congenital cataract-hearing loss-severe developmental delay syndrome
OrphaCode: 300313
DisorderType: Disease
Name: GM2 gangliosidosis
OrphaCode: 309152
DisorderType: Clinical group
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: GM2 gangliosidosis, AB variant
OrphaCode: 309246
DisorderType: Disease
Name: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 11
OrphaCode: 324535
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Seizures-intellectual disability due to hydroxylysinuria syndrome
OrphaCode: 79156
DisorderType: Disease
Name: MEGDEL syndrome
OrphaCode: 352328
DisorderType: Disease
Name: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OrphaCode: 352333
DisorderType: Disease
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
OrphaCode: 363534
DisorderType: Disease
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Congenital disorder of glycosylation with neurological involvement
OrphaCode: 371047
DisorderType: Category
Children: Name: COG6-CGD
OrphaCode: 464443
DisorderType: Disease
Name: POMGNT2-related limb-girdle muscular dystrophy R24
OrphaCode: 565899
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: GNE myopathy
OrphaCode: 602
DisorderType: Disease
Name: FKRP-related limb-girdle muscular dystrophy R9
OrphaCode: 34515
DisorderType: Disease
Name: ALG12-CDG
OrphaCode: 79324
DisorderType: Disease
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: Fukutin-related limb-girdle muscular dystrophy R13
OrphaCode: 206554
DisorderType: Disease
Name: POMGNT1-related limb-girdle muscular dystrophy R15
OrphaCode: 206564
DisorderType: Disease
Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: DDOST-CDG
OrphaCode: 300536
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: Congenital muscular dystrophy without intellectual disability
OrphaCode: 370980
DisorderType: Disease
Name: Congenital disorder of glycosylation with epilepsy as a major feature
OrphaCode: 371071
DisorderType: Category
Children: Name: DPM1-CDG
OrphaCode: 79322
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG1-CDG
OrphaCode: 79327
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
OrphaCode: 83639
DisorderType: Disease
Name: DPAGT1-CDG
OrphaCode: 86309
DisorderType: Disease
Name: COG8-CDG
OrphaCode: 95428
DisorderType: Disease
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: ALG11-CDG
OrphaCode: 280071
DisorderType: Disease
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: STT3A-CDG
OrphaCode: 370921
DisorderType: Disease
Name: STT3B-CDG
OrphaCode: 370924
DisorderType: Disease
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: ALG6-CDG
OrphaCode: 79320
DisorderType: Disease
Name: ALG3-CDG
OrphaCode: 79321
DisorderType: Disease
Name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
OrphaCode: 488635
DisorderType: Disease
Name: Seizures-scoliosis-macrocephaly syndrome
OrphaCode: 466926
DisorderType: Disease
Name: COG2-CDG
OrphaCode: 435934
DisorderType: Disease
Name: COG5-CDG
OrphaCode: 263487
DisorderType: Disease
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: Congenital muscular dystrophy with cerebellar involvement
OrphaCode: 370959
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability
OrphaCode: 370968
DisorderType: Disease
Name: POMT1-related limb-girdle muscular dystrophy R11
OrphaCode: 86812
DisorderType: Disease
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: GMPPB-related limb-girdle muscular dystrophy R19
OrphaCode: 363623
DisorderType: Disease
Name: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
OrphaCode: 280333
DisorderType: Disease
Name: MAN1B1-CDG
OrphaCode: 397941
DisorderType: Disease
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: ISPD-related limb-girdle muscular dystrophy R20
OrphaCode: 352479
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: POMT2-related limb-girdle muscular dystrophy R14
OrphaCode: 206559
DisorderType: Disease
Name: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
OrphaCode: 391348
DisorderType: Disease
Name: Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
OrphaCode: 391376
DisorderType: Disease
Name: HSD10 disease
OrphaCode: 391417
DisorderType: Disease
Children: Name: HSD10 disease, atypical type
OrphaCode: 85295
DisorderType: Clinical subtype
Name: HSD10 disease, infantile type
OrphaCode: 391428
DisorderType: Clinical subtype
Name: HSD10 disease, neonatal type
OrphaCode: 391457
DisorderType: Clinical subtype
Name: Bilirubin encephalopathy
OrphaCode: 415286
DisorderType: Clinical group
Children: Name: Acute bilirubin encephalopathy
OrphaCode: 529799
DisorderType: Clinical syndrome
Name: Chronic bilirubin encephalopathy
OrphaCode: 529808
DisorderType: Clinical syndrome
Name: Combined oxidative phosphorylation defect type 20
OrphaCode: 420728
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 21
OrphaCode: 420733
DisorderType: Disease
Name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
OrphaCode: 423479
DisorderType: Disease
Name: Progressive encephalopathy with leukodystrophy due to DECR deficiency
OrphaCode: 431361
DisorderType: Disease
Name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
OrphaCode: 436271
DisorderType: Disease
Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 23
OrphaCode: 444013
DisorderType: Disease
Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Limb-girdle muscular dystrophy due to POMK deficiency
OrphaCode: 445110
DisorderType: Disease
Name: Mitochondrial pyruvate carrier deficiency
OrphaCode: 447784
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 8
OrphaCode: 505208
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 9
OrphaCode: 505216
DisorderType: Disease
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
OrphaCode: 478049
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 27
OrphaCode: 477774
DisorderType: Disease
Name: Autosomal dominant mitochondrial myopathy with exercise intolerance
OrphaCode: 457050
DisorderType: Disease
Name: ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
OrphaCode: 457375
DisorderType: Disease
Name: C12ORF65-related combined oxidative phosphorylation defect
OrphaCode: 497623
DisorderType: Clinical group
Children: Name: Combined oxidative phosphorylation defect type 7
OrphaCode: 254930
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Alkaline ceramidase 3 deficiency
OrphaCode: 502444
DisorderType: Disease
Name: Lipoic acid synthetase deficiency
OrphaCode: 401859
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: Adenosine monophosphate deaminase deficiency
OrphaCode: 45
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 48
OrphaCode: 306511
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 77
OrphaCode: 466722
DisorderType: Disease
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Progressive polyneuropathy with bilateral striatal necrosis
OrphaCode: 217396
DisorderType: Disease
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 25
OrphaCode: 447954
DisorderType: Disease
Name: Polyglucosan body myopathy type 2
OrphaCode: 456369
DisorderType: Disease
Name: Polyglucosan body myopathy type 1
OrphaCode: 397937
DisorderType: Disease
Name: Childhood-onset spasticity with hyperglycinemia
OrphaCode: 401866
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 30
OrphaCode: 478042
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 527276
DisorderType: Disease
Children: Name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 330050
DisorderType: Etiological subtype
Name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 485421
DisorderType: Etiological subtype
Name: Auditory neuropathy-optic atrophy syndrome
OrphaCode: 542585
DisorderType: Disease
Name: Neonatal epileptic encephalopathy due to glutaminase deficiency
OrphaCode: 557064
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 39
OrphaCode: 565624
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: WARS2-related combined oxidative phosphorylation defect
OrphaCode: 572798
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
OrphaCode: 619979
DisorderType: Disease
Name: Neurodegenerative syndrome due to cerebral folate transport deficiency
OrphaCode: 217382
DisorderType: Disease
Name: Paroxysmal extreme pain disorder
OrphaCode: 46348
DisorderType: Disease
Name: Athabaskan brainstem dysgenesis syndrome
OrphaCode: 69739
DisorderType: Disease
Name: Rare central nervous system and retinal vascular disease
OrphaCode: 71281
DisorderType: Category
Children: Name: Genetic cerebral small vessel disease
OrphaCode: 477754
DisorderType: Category
Children: Name: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
OrphaCode: 621758
DisorderType: Disease
Name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
OrphaCode: 247691
DisorderType: Disease
Name: Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
OrphaCode: 314572
DisorderType: Disease
Name: Cerebral Amyloid Angiopathy
OrphaCode: 85458
DisorderType: Disease
Children: Name: ABeta amyloidosis, Dutch type
OrphaCode: 100006
DisorderType: Clinical subtype
Name: ACys amyloidosis
OrphaCode: 100008
DisorderType: Clinical subtype
Name: ABetaL34V amyloidosis
OrphaCode: 324703
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Iowa type
OrphaCode: 324708
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Italian type
OrphaCode: 324713
DisorderType: Clinical subtype
Name: ABetaA21G amyloidosis
OrphaCode: 324718
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Arctic type
OrphaCode: 324723
DisorderType: Clinical subtype
Name: Coats plus syndrome
OrphaCode: 313838
DisorderType: Disease
Name: COL4A1 or COL4A2-related cerebral small vessel disease
OrphaCode: 477759
DisorderType: Category
Children: Name: COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
OrphaCode: 477765
DisorderType: Clinical group
Children: Name: COL4A1/2-related familial vascular leukoencephalopathy
OrphaCode: 36383
DisorderType: Disease
Name: HANAC syndrome
OrphaCode: 73229
DisorderType: Disease
Name: Familial isolated retinal arteriolar tortuosity
OrphaCode: 75326
DisorderType: Disease
Name: Familial porencephaly
OrphaCode: 99810
DisorderType: Etiological subtype
Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency
OrphaCode: 477762
DisorderType: Clinical group
Children: Name: Pontine autosomal dominant microangiopathy with leukoencephalopathy
OrphaCode: 477749
DisorderType: Disease
Name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 136
DisorderType: Disease
Name: HTRA1-related cerebral small vessel disease
OrphaCode: 482072
DisorderType: Clinical group
Children: Name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 199354
DisorderType: Disease
Name: HTRA1-related autosomal dominant cerebral small vessel disease
OrphaCode: 482077
DisorderType: Disease
Name: Leukoencephalopathy with calcifications and cysts
OrphaCode: 542310
DisorderType: Disease
Name: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
OrphaCode: 575553
DisorderType: Disease
Name: Rare idiopathic macular telangiectasia
OrphaCode: 482092
DisorderType: Category
Children: Name: Idiopathic macular telangiectasia type 1
OrphaCode: 353344
DisorderType: Disease
Name: Idiopathic macular telangiectasia type 3
OrphaCode: 353351
DisorderType: Disease
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Sneddon syndrome
OrphaCode: 820
DisorderType: Disease
Name: Familial exudative vitreoretinopathy
OrphaCode: 891
DisorderType: Disease
Name: Susac syndrome
OrphaCode: 838
DisorderType: Disease
Name: Familial cervical artery dissection
OrphaCode: 36382
DisorderType: Disease
Name: Familial retinal arterial macroaneurysm
OrphaCode: 284247
DisorderType: Malformation syndrome
Name: Acquired aneurysmal subarachnoid hemorrhage
OrphaCode: 90065
DisorderType: Particular clinical situation in a disease or syndrome
Name: Neurovascular malformation
OrphaCode: 102006
DisorderType: Category
Children: Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Vein of Galen aneurysmal malformation
OrphaCode: 1053
DisorderType: Morphological anomaly
Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Cerebral arteriovenous malformation
OrphaCode: 46724
DisorderType: Morphological anomaly
Name: Spinal arteriovenous metameric syndrome
OrphaCode: 53721
DisorderType: Malformation syndrome
Name: Foix-Alajouanine syndrome
OrphaCode: 79093
DisorderType: Malformation syndrome
Name: Dural sinus malformation
OrphaCode: 97339
DisorderType: Morphological anomaly
Name: Cerebrofacial arteriovenous metameric syndrome
OrphaCode: 141189
DisorderType: Clinical group
Children: Name: Wyburn-Mason syndrome
OrphaCode: 53719
DisorderType: Malformation syndrome
Name: Cerebrofacial arteriovenous metameric syndrome type 1
OrphaCode: 141194
DisorderType: Malformation syndrome
Name: Cerebrofacial arteriovenous metameric syndrome type 3
OrphaCode: 141199
DisorderType: Malformation syndrome
Name: Glomuvenous malformation
OrphaCode: 83454
DisorderType: Malformation syndrome
Name: Familial cerebral saccular aneurysm
OrphaCode: 231160
DisorderType: Disease
Name: Familial cerebral cavernous malformation
OrphaCode: 221061
DisorderType: Malformation syndrome
Name: Retinal capillary malformation
OrphaCode: 71213
DisorderType: Disease
Name: Internal carotid absence
OrphaCode: 981
DisorderType: Morphological anomaly
Name: Congenital retinal arteriovenous communication
OrphaCode: 353334
DisorderType: Morphological anomaly
Name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
OrphaCode: 521445
DisorderType: Malformation syndrome
Name: Primary angiitis of the central nervous system
OrphaCode: 140989
DisorderType: Disease
Name: IRVAN syndrome
OrphaCode: 209943
DisorderType: Disease
Name: Cerebral sinovenous thrombosis
OrphaCode: 329217
DisorderType: Disease
Name: Vasoproliferative tumor of the retina
OrphaCode: 353356
DisorderType: Disease
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease
Name: Pediatric arterial ischemic stroke
OrphaCode: 439175
DisorderType: Clinical syndrome
Name: Cerebral visual impairment
OrphaCode: 447788
DisorderType: Clinical syndrome
Name: Moyamoya angiopathy
OrphaCode: 477768
DisorderType: Clinical group
Children: Name: Rare disorder with a moyamoya angiopathy
OrphaCode: 477771
DisorderType: Category
Children: Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Moyamoya disease with early-onset achalasia
OrphaCode: 401945
DisorderType: Disease
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Sickle cell anemia
OrphaCode: 232
DisorderType: Disease
Name: Aicardi-Goutières syndrome
OrphaCode: 51
DisorderType: Disease
Name: Familial Chilblain lupus
OrphaCode: 481662
DisorderType: Disease
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Moyamoya disease
OrphaCode: 2573
DisorderType: Disease
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Familial or sporadic hemiplegic migraine
OrphaCode: 569
DisorderType: Disease
Name: Neonatal hypoxic and ischemic brain injury
OrphaCode: 137577
DisorderType: Particular clinical situation in a disease or syndrome
Name: Complex regional pain syndrome
OrphaCode: 83452
DisorderType: Disease
Children: Name: Complex regional pain syndrome type 2
OrphaCode: 99994
DisorderType: Clinical subtype
Name: Complex regional pain syndrome type 1
OrphaCode: 99995
DisorderType: Clinical subtype
Name: Rare intellectual disability
OrphaCode: 87277
DisorderType: Category
Children: Name: Rare non-syndromic intellectual disability
OrphaCode: 101685
DisorderType: Disease
Children: Name: X-linked non-syndromic intellectual disability
OrphaCode: 777
DisorderType: Etiological subtype
Name: Autosomal recessive non-syndromic intellectual disability
OrphaCode: 88616
DisorderType: Etiological subtype
Name: Autosomal dominant non-syndromic intellectual disability
OrphaCode: 178469
DisorderType: Etiological subtype
Name: Rare syndromic intellectual disability
OrphaCode: 102369
DisorderType: Category
Children: Name: Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
OrphaCode: 611314
DisorderType: Category
Children: Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Infantile-onset generalized dyskinesia with orofacial involvement
OrphaCode: 494526
DisorderType: Disease
Name: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
OrphaCode: 168566
DisorderType: Disease
Name: Allan-Herndon-Dudley syndrome
OrphaCode: 59
DisorderType: Disease
Name: X-linked progressive cerebellar ataxia
OrphaCode: 1175
DisorderType: Disease
Name: Lethal ataxia with deafness and optic atrophy
OrphaCode: 1187
DisorderType: Disease
Name: Monoamine oxidase A deficiency
OrphaCode: 3057
DisorderType: Disease
Name: Intellectual disability, Birk-Barel type
OrphaCode: 166108
DisorderType: Disease
Name: Hereditary cryohydrocytosis with reduced stomatin
OrphaCode: 168577
DisorderType: Disease
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
OrphaCode: 488613
DisorderType: Malformation syndrome
Name: Early-onset epilepsy-intellectual disability-brain anomalies syndrome
OrphaCode: 488635
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
OrphaCode: 496790
DisorderType: Disease
Name: C12ORF65-related combined oxidative phosphorylation defect
OrphaCode: 497623
DisorderType: Clinical group
Children: Name: Combined oxidative phosphorylation defect type 7
OrphaCode: 254930
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
OrphaCode: 500180
DisorderType: Disease
Name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
OrphaCode: 500545
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 9
OrphaCode: 505216
DisorderType: Disease
Name: CDKL5-deficiency disorder
OrphaCode: 505652
DisorderType: Disease
Name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
OrphaCode: 506353
DisorderType: Disease
Name: Congenital cerebellar ataxia due to RNU12 mutation
OrphaCode: 512260
DisorderType: Disease
Name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
OrphaCode: 521390
DisorderType: Malformation syndrome
Name: Dystonia-parkinsonism-hypermanganesemia syndrome
OrphaCode: 521406
DisorderType: Disease
Name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
OrphaCode: 522077
DisorderType: Disease
Name: Encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 527276
DisorderType: Disease
Children: Name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 330050
DisorderType: Etiological subtype
Name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 485421
DisorderType: Etiological subtype
Name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 527497
DisorderType: Disease
Name: 9q21.13 microdeletion syndrome
OrphaCode: 531151
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Growth delay-intellectual disability-hepatopathy syndrome
OrphaCode: 541423
DisorderType: Disease
Name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
OrphaCode: 542306
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: SYNGAP1-related developmental and epileptic encephalopathy
OrphaCode: 544254
DisorderType: Disease
Name: FOXG1 syndrome
OrphaCode: 561854
DisorderType: Disease
Children: Name: FOXG1 syndrome due to intragenic alteration
OrphaCode: 598164
DisorderType: Clinical subtype
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
OrphaCode: 564178
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 39
OrphaCode: 565624
DisorderType: Disease
Name: Infantile inflammatory bowel disease with neurological involvement
OrphaCode: 565788
DisorderType: Disease
Name: POMGNT2-related limb-girdle muscular dystrophy R24
OrphaCode: 565899
DisorderType: Disease
Name: WARS2-related combined oxidative phosphorylation defect
OrphaCode: 572798
DisorderType: Disease
Name: Serine biosynthesis pathway deficiency, infantile/juvenile form
OrphaCode: 583595
DisorderType: Disease
Children: Name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
OrphaCode: 79351
DisorderType: Etiological subtype
Name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
OrphaCode: 79350
DisorderType: Etiological subtype
Name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
OrphaCode: 284417
DisorderType: Etiological subtype
Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
OrphaCode: 589547
DisorderType: Disease
Name: Dystonia 28
OrphaCode: 589618
DisorderType: Disease
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: GNAO1-related developmental delay-seizures-movement disorder spectrum
OrphaCode: 592564
DisorderType: Disease
Name: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
OrphaCode: 597874
DisorderType: Disease
Name: STXBP1-related encephalopathy
OrphaCode: 599373
DisorderType: Disease
Name: Hypomyelination of early myelinating structures
OrphaCode: 599376
DisorderType: Disease
Name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
OrphaCode: 600663
DisorderType: Malformation syndrome
Name: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
OrphaCode: 610573
DisorderType: Disease
Name: Aplastic anemia-intellectual disability-dwarfism syndrome
OrphaCode: 611216
DisorderType: Disease
Name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
OrphaCode: 502423
DisorderType: Disease
Name: Autosomal recessive spastic ataxia with leukoencephalopathy
OrphaCode: 314603
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 8
OrphaCode: 505208
DisorderType: Disease
Name: Methionine adenosyltransferase I/III deficiency
OrphaCode: 168598
DisorderType: Disease
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: Methylcobalamin deficiency type cblE
OrphaCode: 2169
DisorderType: Clinical subtype
Name: Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
OrphaCode: 486815
DisorderType: Disease
Name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OrphaCode: 2255
DisorderType: Disease
Name: Bilateral striopallidodentate calcinosis
OrphaCode: 1980
DisorderType: Disease
Name: Congenital brain dysgenesis due to glutamine synthetase deficiency
OrphaCode: 71278
DisorderType: Disease
Name: GM1 gangliosidosis
OrphaCode: 354
DisorderType: Disease
Children: Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 3
OrphaCode: 79257
DisorderType: Clinical subtype
Name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
OrphaCode: 88639
DisorderType: Disease
Name: MPI-CDG
OrphaCode: 79319
DisorderType: Disease
Name: Generalized epilepsy with febrile seizures-plus
OrphaCode: 36387
DisorderType: Disease
Name: Hereditary folate malabsorption
OrphaCode: 90045
DisorderType: Disease
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Growth delay due to insulin-like growth factor I resistance
OrphaCode: 73273
DisorderType: Disease
Name: Björnstad syndrome
OrphaCode: 123
DisorderType: Disease
Name: Autosomal recessive ataxia, Beauce type
OrphaCode: 88644
DisorderType: Disease
Name: Aspartylglucosaminuria
OrphaCode: 93
DisorderType: Disease
Name: Fucosidosis
OrphaCode: 349
DisorderType: Disease
Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Sialidosis type 1
OrphaCode: 812
DisorderType: Disease
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 46
OrphaCode: 320391
DisorderType: Disease
Name: Isovaleric acidemia
OrphaCode: 33
DisorderType: Disease
Name: Spinocerebellar ataxia type 21
OrphaCode: 98773
DisorderType: Disease
Name: Emery-Dreifuss muscular dystrophy
OrphaCode: 261
DisorderType: Disease
Children: Name: Autosomal dominant Emery-Dreifuss muscular dystrophy
OrphaCode: 98853
DisorderType: Etiological subtype
Name: Autosomal recessive Emery-Dreifuss muscular dystrophy
OrphaCode: 98855
DisorderType: Etiological subtype
Name: X-linked Emery-Dreifuss muscular dystrophy
OrphaCode: 98863
DisorderType: Etiological subtype
Name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OrphaCode: 412057
DisorderType: Disease
Name: Peroxisomal acyl-CoA oxidase deficiency
OrphaCode: 2971
DisorderType: Disease
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Retinitis pigmentosa
OrphaCode: 791
DisorderType: Disease
Name: Stormorken-Sjaastad-Langslet syndrome
OrphaCode: 3204
DisorderType: Disease
Name: TMEM70-related mitochondrial encephalo-cardio-myopathy
OrphaCode: 1194
DisorderType: Disease
Name: Cerebellar ataxia, Cayman type
OrphaCode: 94122
DisorderType: Disease
Name: Pyridoxal phosphate-responsive seizures
OrphaCode: 79096
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Free sialic acid storage disease
OrphaCode: 834
DisorderType: Disease
Children: Name: Free sialic acid storage disease, infantile form
OrphaCode: 309324
DisorderType: Clinical subtype
Name: Intermediate severe Salla disease
OrphaCode: 309331
DisorderType: Clinical subtype
Name: Salla disease
OrphaCode: 309334
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Glutathione synthetase deficiency
OrphaCode: 32
DisorderType: Disease
Children: Name: Glutathione synthetase deficiency with 5-oxoprolinuria
OrphaCode: 289846
DisorderType: Clinical subtype
Name: Glutathione synthetase deficiency without 5-oxoprolinuria
OrphaCode: 289849
DisorderType: Clinical subtype
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: Pyruvate carboxylase deficiency
OrphaCode: 3008
DisorderType: Disease
Children: Name: Pyruvate carboxylase deficiency, infantile type
OrphaCode: 353308
DisorderType: Clinical subtype
Name: Pyruvate carboxylase deficiency, severe neonatal type
OrphaCode: 353314
DisorderType: Clinical subtype
Name: Pyruvate carboxylase deficiency, benign type
OrphaCode: 353320
DisorderType: Clinical subtype
Name: Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
OrphaCode: 641361
DisorderType: Disease
Name: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633014
DisorderType: Disease
Children: Name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
OrphaCode: 633021
DisorderType: Clinical subtype
Name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633024
DisorderType: Clinical subtype
Name: Hao-Fountain syndrome
OrphaCode: 643549
DisorderType: Disease
Children: Name: Hao-Fountain syndrome due to USP7 mutation
OrphaCode: 643538
DisorderType: Etiological subtype
Name: Hao-Fountain syndrome due to 16p13.2 microdeletion
OrphaCode: 500055
DisorderType: Etiological subtype
Name: Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
OrphaCode: 647788
DisorderType: Disease
Name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
OrphaCode: 647799
DisorderType: Disease
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
OrphaCode: 660017
DisorderType: Disease
Children: Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
OrphaCode: 660012
DisorderType: Etiological subtype
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
OrphaCode: 1617
DisorderType: Etiological subtype
Name: Congenital muscular dystrophy-cataract-intellectual disability syndrome
OrphaCode: 662184
DisorderType: Disease
Name: Actinomyopathy-associated syndromic thrombocytopenia
OrphaCode: 674653
DisorderType: Disease
Name: Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency
OrphaCode: 675767
DisorderType: Disease
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: NESCAV syndrome
OrphaCode: 662367
DisorderType: Disease
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
OrphaCode: 3240
DisorderType: Disease
Name: Infantile bilateral striatal necrosis
OrphaCode: 1576
DisorderType: Clinical group
Children: Name: Sporadic infantile bilateral striatal necrosis
OrphaCode: 225147
DisorderType: Disease
Name: Familial infantile bilateral striatal necrosis
OrphaCode: 225154
DisorderType: Disease
Name: CEDNIK syndrome
OrphaCode: 66631
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor type 1 deficiency
OrphaCode: 73272
DisorderType: Disease
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: Hypomyelination-congenital cataract syndrome
OrphaCode: 85163
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
OrphaCode: 90103
DisorderType: Malformation syndrome
Name: Autosomal recessive proximal renal tubular acidosis
OrphaCode: 93607
DisorderType: Clinical subtype
Name: Rett syndrome
OrphaCode: 778
DisorderType: Disease
Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: Isolated complex I deficiency
OrphaCode: 2609
DisorderType: Disease
Name: X-linked intellectual disability-epilepsy syndrome
OrphaCode: 2076
DisorderType: Clinical group
Children: Name: X-linked intellectual disability, Hedera type
OrphaCode: 93952
DisorderType: Disease
Name: Female restricted epilepsy with intellectual disability
OrphaCode: 101039
DisorderType: Disease
Name: Hyperekplexia-epilepsy syndrome
OrphaCode: 163985
DisorderType: Disease
Name: Atypical Rett syndrome
OrphaCode: 3095
DisorderType: Disease
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease
OrphaCode: 64747
DisorderType: Clinical group
Children: Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 1
OrphaCode: 101075
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 2
OrphaCode: 101076
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 3
OrphaCode: 101077
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 4
OrphaCode: 101078
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 6
OrphaCode: 352675
DisorderType: Disease
Name: X-linked intellectual disability with isolated growth hormone deficiency
OrphaCode: 67045
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Cantagrel type
OrphaCode: 85277
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Wilson type
OrphaCode: 85290
DisorderType: Malformation syndrome
Name: X-linked spinocerebellar ataxia type 4
OrphaCode: 85292
DisorderType: Disease
Name: X-linked epilepsy-learning disabilities-behavior disorders syndrome
OrphaCode: 85294
DisorderType: Disease
Name: X-linked intellectual disability-retinitis pigmentosa syndrome
OrphaCode: 85332
DisorderType: Disease
Name: X-linked neurodegenerative syndrome, Bertini type
OrphaCode: 85334
DisorderType: Disease
Name: X-linked neurodegenerative syndrome, Hamel type
OrphaCode: 85336
DisorderType: Disease
Name: X-linked intellectual disability-ataxia-apraxia syndrome
OrphaCode: 85338
DisorderType: Disease
Name: Partington syndrome
OrphaCode: 94083
DisorderType: Malformation syndrome
Name: Early-onset X-linked optic atrophy
OrphaCode: 98890
DisorderType: Disease
Name: FRAXE intellectual disability
OrphaCode: 100973
DisorderType: Disease
Name: Rolandic epilepsy-speech dyspraxia syndrome
OrphaCode: 163721
DisorderType: Disease
Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Ornithine transcarbamylase deficiency
OrphaCode: 664
DisorderType: Disease
Name: Menkes disease
OrphaCode: 565
DisorderType: Disease
Name: Danon disease
OrphaCode: 34587
DisorderType: Disease
Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Hypoxanthine-guanine phosphoribosyltransferase deficiency
OrphaCode: 206428
DisorderType: Clinical group
Children: Name: Lesch-Nyhan syndrome
OrphaCode: 510
DisorderType: Disease
Name: Hypoxanthine guanine phosphoribosyltransferase partial deficiency
OrphaCode: 79233
DisorderType: Disease
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
OrphaCode: 423479
DisorderType: Disease
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: L1 syndrome
OrphaCode: 275543
DisorderType: Malformation syndrome
Children: Name: Hydrocephalus with stenosis of the aqueduct of Sylvius
OrphaCode: 2182
DisorderType: Clinical subtype
Name: MASA syndrome
OrphaCode: 2466
DisorderType: Clinical subtype
Name: X-linked complicated corpus callosum dysgenesis
OrphaCode: 1497
DisorderType: Clinical subtype
Name: X-linked complicated spastic paraplegia type 1
OrphaCode: 306617
DisorderType: Clinical subtype
Name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
OrphaCode: 324410
DisorderType: Disease
Name: HSD10 disease
OrphaCode: 391417
DisorderType: Disease
Children: Name: HSD10 disease, atypical type
OrphaCode: 85295
DisorderType: Clinical subtype
Name: HSD10 disease, infantile type
OrphaCode: 391428
DisorderType: Clinical subtype
Name: HSD10 disease, neonatal type
OrphaCode: 391457
DisorderType: Clinical subtype
Name: Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
OrphaCode: 397933
DisorderType: Disease
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: X-linked intellectual disability-hypotonia-movement disorder syndrome
OrphaCode: 457260
DisorderType: Disease
Name: CLCN4-related X-linked intellectual disability syndrome
OrphaCode: 485350
DisorderType: Disease
Name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
OrphaCode: 98791
DisorderType: Malformation syndrome
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Zellweger-like syndrome without peroxisomal anomalies
OrphaCode: 50812
DisorderType: Disease
Name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
OrphaCode: 137898
DisorderType: Disease
Name: PMM2-CDG
OrphaCode: 79318
DisorderType: Disease
Name: ALG3-CDG
OrphaCode: 79321
DisorderType: Disease
Name: MPDU1-CDG
OrphaCode: 79323
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG1-CDG
OrphaCode: 79327
DisorderType: Disease
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: DPAGT1-CDG
OrphaCode: 86309
DisorderType: Disease
Name: POMT1-related limb-girdle muscular dystrophy R11
OrphaCode: 86812
DisorderType: Disease
Name: COG8-CDG
OrphaCode: 95428
DisorderType: Disease
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: POMT2-related limb-girdle muscular dystrophy R14
OrphaCode: 206559
DisorderType: Disease
Name: SLC35A1-CDG
OrphaCode: 238459
DisorderType: Disease
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: COG5-CDG
OrphaCode: 263487
DisorderType: Disease
Name: COG4-CDG
OrphaCode: 263501
DisorderType: Disease
Name: ALG11-CDG
OrphaCode: 280071
DisorderType: Disease
Name: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
OrphaCode: 280333
DisorderType: Disease
Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
OrphaCode: 329178
DisorderType: Disease
Name: ISPD-related limb-girdle muscular dystrophy R20
OrphaCode: 352479
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: GMPPB-related limb-girdle muscular dystrophy R19
OrphaCode: 363623
DisorderType: Disease
Name: STT3A-CDG
OrphaCode: 370921
DisorderType: Disease
Name: STT3B-CDG
OrphaCode: 370924
DisorderType: Disease
Name: GM3 synthase deficiency
OrphaCode: 370933
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: Congenital muscular dystrophy with cerebellar involvement
OrphaCode: 370959
DisorderType: Disease
Name: Congenital muscular dystrophy with intellectual disability
OrphaCode: 370968
DisorderType: Disease
Name: MAN1B1-CDG
OrphaCode: 397941
DisorderType: Disease
Name: PGM3-CDG
OrphaCode: 443811
DisorderType: Disease
Name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 27
OrphaCode: 477774
DisorderType: Disease
Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
OrphaCode: 231556
DisorderType: Disease
Name: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
OrphaCode: 263410
DisorderType: Disease
Name: Spinocerebellar ataxia type 32
OrphaCode: 276183
DisorderType: Disease
Name: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
OrphaCode: 280384
DisorderType: Disease
Name: Severe intellectual disability and progressive spastic paraplegia
OrphaCode: 280763
DisorderType: Disease
Name: Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
OrphaCode: 289266
DisorderType: Disease
Name: Intellectual disability-alacrima-achalasia syndrome
OrphaCode: 289483
DisorderType: Disease
Name: Distal Xq28 microduplication syndrome
OrphaCode: 293939
DisorderType: Malformation syndrome
Name: 1p21.3 microdeletion syndrome
OrphaCode: 293948
DisorderType: Malformation syndrome
Name: Neonatal inflammatory skin and bowel disease
OrphaCode: 294023
DisorderType: Disease
Name: Non-progressive cerebellar ataxia with intellectual disability
OrphaCode: 314647
DisorderType: Disease
Name: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
OrphaCode: 352333
DisorderType: Disease
Name: ANK3-related intellectual disability-sleep disturbance syndrome
OrphaCode: 356996
DisorderType: Disease
Name: Primary non-essential cutis verticis gyrata
OrphaCode: 357225
DisorderType: Disease
Name: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
OrphaCode: 363523
DisorderType: Disease
Name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
OrphaCode: 369847
DisorderType: Disease
Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: Combined malonic and methylmalonic acidemia
OrphaCode: 289504
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Severe X-linked mitochondrial encephalomyopathy
OrphaCode: 238329
DisorderType: Disease
Name: Succinic semialdehyde dehydrogenase deficiency
OrphaCode: 22
DisorderType: Disease
Name: ALG12-CDG
OrphaCode: 79324
DisorderType: Disease
Name: ALG6-CDG
OrphaCode: 79320
DisorderType: Disease
Name: ALG9-CDG
OrphaCode: 79328
DisorderType: Disease
Name: Adult-onset autosomal recessive cerebellar ataxia
OrphaCode: 284289
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 1
OrphaCode: 67046
DisorderType: Disease
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Hereditary methemoglobinemia
OrphaCode: 621
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 54
OrphaCode: 320380
DisorderType: Disease
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
Name: Dilated cardiomyopathy with ataxia
OrphaCode: 66634
DisorderType: Disease
Name: DPM1-CDG
OrphaCode: 79322
DisorderType: Disease
Name: Autosomal spastic paraplegia type 18
OrphaCode: 209951
DisorderType: Disease
Name: Ethylmalonic encephalopathy
OrphaCode: 51188
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: L-2-hydroxyglutaric aciduria
OrphaCode: 79314
DisorderType: Disease
Name: Laminin subunit alpha 2-related congenital muscular dystrophy
OrphaCode: 258
DisorderType: Malformation syndrome
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: Dravet syndrome
OrphaCode: 33069
DisorderType: Disease
Name: Paroxysmal exertion-induced dyskinesia
OrphaCode: 98811
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
OrphaCode: 284271
DisorderType: Disease
Name: Tyrosinemia type 2
OrphaCode: 28378
DisorderType: Disease
Name: Familial infantile myoclonic epilepsy
OrphaCode: 352582
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 15
OrphaCode: 100996
DisorderType: Disease
Name: ALG13-CDG
OrphaCode: 324422
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 26
OrphaCode: 101006
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: Proximal myopathy with extrapyramidal signs
OrphaCode: 401768
DisorderType: Disease
Name: Spinocerebellar ataxia type 14
OrphaCode: 98763
DisorderType: Disease
Name: Autosomal recessive dopa-responsive dystonia
OrphaCode: 101150
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 20
OrphaCode: 101000
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
OrphaCode: 320385
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 1
OrphaCode: 308
DisorderType: Disease
Name: DDOST-CDG
OrphaCode: 300536
DisorderType: Disease
Name: Aminoacylase 1 deficiency
OrphaCode: 137754
DisorderType: Disease
Name: Infantile dystonia-parkinsonism
OrphaCode: 238455
DisorderType: Disease
Name: Posterior column ataxia-retinitis pigmentosa syndrome
OrphaCode: 88628
DisorderType: Disease
Name: DPM3-CDG
OrphaCode: 263494
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 53
OrphaCode: 319199
DisorderType: Disease
Name: AICA-ribosiduria
OrphaCode: 250977
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 79644
DisorderType: Disease
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Presynaptic congenital myasthenic syndromes
OrphaCode: 98914
DisorderType: Etiological subtype
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: Early-onset obesity-hyperphagia-severe developmental delay syndrome
OrphaCode: 99704
DisorderType: Disease
Name: Pituitary stalk interruption syndrome
OrphaCode: 95496
DisorderType: Morphological anomaly
Name: Autosomal dominant dopa-responsive dystonia
OrphaCode: 98808
DisorderType: Disease
Name: Isolated permanent neonatal diabetes mellitus
OrphaCode: 99885
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 10
OrphaCode: 100991
DisorderType: Disease
Name: CNTNAP2-related developmental and epileptic encephalopathy
OrphaCode: 163681
DisorderType: Disease
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Hyperprolinemia type 1
OrphaCode: 419
DisorderType: Disease
Name: Timothy syndrome
OrphaCode: 65283
DisorderType: Malformation syndrome
Children: Name: Timothy syndrome type 1
OrphaCode: 595098
DisorderType: Clinical subtype
Name: Timothy syndrome type 2
OrphaCode: 595105
DisorderType: Clinical subtype
Name: Atypical Timothy syndrome
OrphaCode: 595109
DisorderType: Clinical subtype
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Isolated cytochrome C oxidase deficiency
OrphaCode: 254905
DisorderType: Disease
Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphaCode: 477814
DisorderType: Malformation syndrome
Name: Glycine encephalopathy
OrphaCode: 407
DisorderType: Disease
Children: Name: Neonatal glycine encephalopathy
OrphaCode: 289857
DisorderType: Clinical subtype
Name: Infantile glycine encephalopathy
OrphaCode: 289860
DisorderType: Clinical subtype
Name: Atypical glycine encephalopathy
OrphaCode: 289863
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Legius syndrome
OrphaCode: 137605
DisorderType: Malformation syndrome
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
OrphaCode: 255235
DisorderType: Disease
Name: MOGS-CDG
OrphaCode: 79330
DisorderType: Disease
Name: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
OrphaCode: 652487
DisorderType: Malformation syndrome
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Knobloch syndrome
OrphaCode: 1571
DisorderType: Malformation syndrome
Name: Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
OrphaCode: 641353
DisorderType: Disease
Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
OrphaCode: 713
DisorderType: Disease
Name: Adenylosuccinate lyase deficiency
OrphaCode: 46
DisorderType: Disease
Name: 3p25.3 microdeletion syndrome
OrphaCode: 435638
DisorderType: Malformation syndrome
Name: RARS-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 438114
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Combined oxidative phosphorylation defect type 23
OrphaCode: 444013
DisorderType: Disease
Name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
OrphaCode: 457351
DisorderType: Malformation syndrome
Name: Seizures-scoliosis-macrocephaly syndrome
OrphaCode: 466926
DisorderType: Disease
Name: VPS11-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 466934
DisorderType: Disease
Name: Intellectual disability-epilepsy-extrapyramidal syndrome
OrphaCode: 468620
DisorderType: Disease
Name: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
OrphaCode: 477673
DisorderType: Disease
Name: Early infantile epileptic encephalopathy
OrphaCode: 1934
DisorderType: Clinical syndrome
Name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
OrphaCode: 415
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 64
OrphaCode: 401810
DisorderType: Disease
Name: Lennox-Gastaut syndrome
OrphaCode: 2382
DisorderType: Disease
Name: KCNQ2-related epileptic encephalopathy
OrphaCode: 439218
DisorderType: Disease
Name: Non-specific early-onset epileptic encephalopathy
OrphaCode: 442835
DisorderType: Disease
Name: Myoclonic-astatic epilepsy
OrphaCode: 1942
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 75
OrphaCode: 459056
DisorderType: Disease
Name: Familial thyroid dyshormonogenesis
OrphaCode: 95716
DisorderType: Disease
Name: Pyridoxine-dependent epilepsy
OrphaCode: 3006
DisorderType: Disease
Name: Hyperammonemia due to N-acetylglutamate synthase deficiency
OrphaCode: 927
DisorderType: Disease
Name: Carnitine-acylcarnitine translocase deficiency
OrphaCode: 159
DisorderType: Disease
Name: Isolated succinate-CoQ reductase deficiency
OrphaCode: 3208
DisorderType: Disease
Name: Familial acute necrotizing encephalopathy
OrphaCode: 88619
DisorderType: Disease
Name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
OrphaCode: 1933
DisorderType: Disease
Name: Familial glucocorticoid deficiency
OrphaCode: 361
DisorderType: Disease
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 45
OrphaCode: 320396
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 56
OrphaCode: 320411
DisorderType: Disease
Name: Spectrin-associated autosomal recessive cerebellar ataxia
OrphaCode: 352403
DisorderType: Disease
Name: Brain dopamine-serotonin vesicular transport disease
OrphaCode: 352649
DisorderType: Disease
Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Hartnup disease
OrphaCode: 2116
DisorderType: Disease
Name: Vitamin B12-unresponsive methylmalonic acidemia
OrphaCode: 27
DisorderType: Disease
Children: Name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
OrphaCode: 79312
DisorderType: Clinical subtype
Name: Vitamin B12-unresponsive methylmalonic acidemia type mut0
OrphaCode: 289916
DisorderType: Clinical subtype
Name: Fatal infantile cytochrome C oxidase deficiency
OrphaCode: 1561
DisorderType: Disease
Name: Griscelli syndrome
OrphaCode: 381
DisorderType: Disease
Children: Name: Griscelli syndrome type 1
OrphaCode: 79476
DisorderType: Clinical subtype
Name: Griscelli syndrome type 2
OrphaCode: 79477
DisorderType: Clinical subtype
Name: Griscelli syndrome type 3
OrphaCode: 79478
DisorderType: Clinical subtype
Name: Maple syrup urine disease
OrphaCode: 511
DisorderType: Disease
Children: Name: Classic maple syrup urine disease
OrphaCode: 268145
DisorderType: Clinical subtype
Name: Intermediate maple syrup urine disease
OrphaCode: 268162
DisorderType: Clinical subtype
Name: Intermittent maple syrup urine disease
OrphaCode: 268173
DisorderType: Clinical subtype
Name: Thiamine-responsive maple syrup urine disease
OrphaCode: 268184
DisorderType: Clinical subtype
Name: Isolated complex III deficiency
OrphaCode: 1460
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Pelizaeus-Merzbacher disease
OrphaCode: 702
DisorderType: Disease
Children: Name: Pelizaeus-Merzbacher disease, connatal form
OrphaCode: 280210
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, classic form
OrphaCode: 280219
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease, transitional form
OrphaCode: 280224
DisorderType: Clinical subtype
Name: Pelizaeus-Merzbacher disease in female carriers
OrphaCode: 280229
DisorderType: Clinical subtype
Name: Null syndrome
OrphaCode: 280234
DisorderType: Clinical subtype
Name: Laryngeal abductor paralysis-intellectual disability syndrome
OrphaCode: 2375
DisorderType: Malformation syndrome
Name: Early-onset parkinsonism-intellectual disability syndrome
OrphaCode: 2379
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 9B
OrphaCode: 447760
DisorderType: Disease
Name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
OrphaCode: 447997
DisorderType: Disease
Name: Congenital insensitivity to pain with severe intellectual disability
OrphaCode: 453510
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
OrphaCode: 453521
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
OrphaCode: 480864
DisorderType: Disease
Name: Aniridia-cerebellar ataxia-intellectual disability syndrome
OrphaCode: 1065
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Infantile spasms syndrome
OrphaCode: 3451
DisorderType: Clinical syndrome
Name: Aicardi-Goutières syndrome
OrphaCode: 51
DisorderType: Disease
Name: Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
OrphaCode: 1008
DisorderType: Disease
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: Infantile choroidocerebral calcification syndrome
OrphaCode: 1313
DisorderType: Disease
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Dysequilibrium syndrome
OrphaCode: 1766
DisorderType: Disease
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
OrphaCode: 2435
DisorderType: Disease
Name: Behr syndrome
OrphaCode: 1239
DisorderType: Malformation syndrome
Name: Moynahan syndrome
OrphaCode: 2574
DisorderType: Malformation syndrome
Name: Spastic paraplegia-glaucoma-intellectual disability syndrome
OrphaCode: 2818
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 11
OrphaCode: 2822
DisorderType: Disease
Name: Alopecia-intellectual disability syndrome
OrphaCode: 2850
DisorderType: Disease
Name: Piebald trait-neurologic defects syndrome
OrphaCode: 2885
DisorderType: Malformation syndrome
Name: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
OrphaCode: 3011
DisorderType: Disease
Name: Intellectual disability-myopathy-short stature-endocrine defect syndrome
OrphaCode: 3068
DisorderType: Disease
Name: Argininosuccinic aciduria
OrphaCode: 23
DisorderType: Disease
Name: ICF syndrome
OrphaCode: 2268
DisorderType: Malformation syndrome
Name: Hereditary sensory and autonomic neuropathy type 4
OrphaCode: 642
DisorderType: Disease
Name: Purine nucleoside phosphorylase deficiency
OrphaCode: 760
DisorderType: Disease
Name: Mitochondrial myopathy and sideroblastic anemia
OrphaCode: 2598
DisorderType: Disease
Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Giant axonal neuropathy
OrphaCode: 643
DisorderType: Disease
Name: Familial congenital mirror movements
OrphaCode: 238722
DisorderType: Disease
Name: Hereditary orotic aciduria
OrphaCode: 30
DisorderType: Disease
Name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
OrphaCode: 70594
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Beta-ketothiolase deficiency
OrphaCode: 134
DisorderType: Disease
Name: Multiple benign circumferential skin creases on limbs
OrphaCode: 2505
DisorderType: Disease
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Acrogeria
OrphaCode: 2500
DisorderType: Malformation syndrome
Name: Moyamoya disease
OrphaCode: 2573
DisorderType: Disease
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria
OrphaCode: 26
DisorderType: Disease
Children: Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblD
OrphaCode: 79283
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria type cblF
OrphaCode: 79284
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblJ
OrphaCode: 369955
DisorderType: Clinical subtype
Name: Methylmalonic acidemia with homocystinuria, type cblX
OrphaCode: 369962
DisorderType: Clinical subtype
Name: Hereditary bullous dystrophy, macular type
OrphaCode: 1867
DisorderType: Disease
Name: X-linked intellectual disability-psychosis-macroorchidism syndrome
OrphaCode: 3077
DisorderType: Malformation syndrome
Name: X-linked spasticity-intellectual disability-epilepsy syndrome
OrphaCode: 3175
DisorderType: Disease
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: Pyruvate dehydrogenase deficiency
OrphaCode: 765
DisorderType: Disease
Children: Name: Pyruvate dehydrogenase E3 deficiency
OrphaCode: 2394
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-alpha deficiency
OrphaCode: 79243
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E2 deficiency
OrphaCode: 79244
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase phosphatase deficiency
OrphaCode: 79246
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-beta deficiency
OrphaCode: 255138
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E3-binding protein deficiency
OrphaCode: 255182
DisorderType: Clinical subtype
Name: Phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 3222
DisorderType: Disease
Children: Name: Mild phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411536
DisorderType: Clinical subtype
Name: Severe phosphoribosylpyrophosphate synthetase superactivity
OrphaCode: 411543
DisorderType: Clinical subtype
Name: Guanidinoacetate methyltransferase deficiency
OrphaCode: 382
DisorderType: Disease
Name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
OrphaCode: 370022
DisorderType: Disease
Name: Proximal 16p11.2 microduplication syndrome
OrphaCode: 370079
DisorderType: Malformation syndrome
Name: Optic atrophy-intellectual disability syndrome
OrphaCode: 401777
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
OrphaCode: 412069
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Hereditary hyperekplexia
OrphaCode: 3197
DisorderType: Disease
Name: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OrphaCode: 102283
DisorderType: Category
Children: Name: X-linked intellectual disability, Stevenson type
OrphaCode: 85325
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stoll type
OrphaCode: 85326
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-acromegaly-hyperactivity syndrome
OrphaCode: 85327
DisorderType: Disease
Name: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
OrphaCode: 85329
DisorderType: Malformation syndrome
Name: Fried syndrome
OrphaCode: 85335
DisorderType: Malformation syndrome
Name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
OrphaCode: 86818
DisorderType: Disease
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: X-linked intellectual disability, Nascimento type
OrphaCode: 163956
DisorderType: Disease
Name: X-linked cerebral-cerebellar-coloboma syndrome
OrphaCode: 163961
DisorderType: Disease
Name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
OrphaCode: 163966
DisorderType: Disease
Name: X-linked intellectual disability, Cilliers type
OrphaCode: 163971
DisorderType: Disease
Name: X-linked intellectual disability, Van Esch type
OrphaCode: 163976
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-craniofacioskeletal syndrome
OrphaCode: 163979
DisorderType: Disease
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: Symptomatic form of Coffin-Lowry syndrome in female carriers
OrphaCode: 276630
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: X-linked intellectual disability due to GRIA3 mutations
OrphaCode: 364028
DisorderType: Disease
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
OrphaCode: 435938
DisorderType: Malformation syndrome
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 17q11.2 microduplication syndrome
OrphaCode: 139474
DisorderType: Malformation syndrome
Name: Biemond syndrome type 2
OrphaCode: 141333
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda, Kohn type
OrphaCode: 163665
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: Zechi-Ceide syndrome
OrphaCode: 217017
DisorderType: Malformation syndrome
Name: 17q21.31 microduplication syndrome
OrphaCode: 217340
DisorderType: Malformation syndrome
Name: 19q13.11 microdeletion syndrome
OrphaCode: 217346
DisorderType: Malformation syndrome
Name: Microduplication Xp11.22p11.23 syndrome
OrphaCode: 217377
DisorderType: Malformation syndrome
Name: 17p13.3 microduplication syndrome
OrphaCode: 217385
DisorderType: Malformation syndrome
Name: Pseudoaminopterin syndrome
OrphaCode: 221120
DisorderType: Malformation syndrome
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome
OrphaCode: 254519
DisorderType: Malformation syndrome
Children: Name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
OrphaCode: 96334
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
OrphaCode: 254528
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
OrphaCode: 254534
DisorderType: Etiological subtype
Name: Kleefstra syndrome
OrphaCode: 261494
DisorderType: Malformation syndrome
Children: Name: Kleefstra syndrome due to 9q34 microdeletion
OrphaCode: 96147
DisorderType: Etiological subtype
Name: Kleefstra syndrome due to a point mutation
OrphaCode: 261652
DisorderType: Etiological subtype
Name: 8q21.11 microdeletion syndrome
OrphaCode: 284160
DisorderType: Malformation syndrome
Name: Xp22.13p22.2 duplication syndrome
OrphaCode: 284180
DisorderType: Malformation syndrome
Name: Microtriplication 11q24.1
OrphaCode: 289522
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome
OrphaCode: 293642
DisorderType: Clinical group
Children: Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Ohdo type
OrphaCode: 2728
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, MKB type
OrphaCode: 293707
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Verloes type
OrphaCode: 293725
DisorderType: Malformation syndrome
Name: SMARCA2-related blepharophimosis-intellectual disability syndrome
OrphaCode: 637013
DisorderType: Malformation syndrome
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: 11p15.4 microduplication syndrome
OrphaCode: 300305
DisorderType: Malformation syndrome
Name: 20p13 microdeletion syndrome
OrphaCode: 313781
DisorderType: Malformation syndrome
Name: Jawad syndrome
OrphaCode: 313795
DisorderType: Malformation syndrome
Name: 2q23.1 microduplication syndrome
OrphaCode: 313947
DisorderType: Malformation syndrome
Name: 7p22.1 microduplication syndrome
OrphaCode: 314034
DisorderType: Malformation syndrome
Name: Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
OrphaCode: 314575
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Cerebrofacioarticular syndrome
OrphaCode: 314679
DisorderType: Malformation syndrome
Name: Distal 17p13.1 microdeletion syndrome
OrphaCode: 319171
DisorderType: Malformation syndrome
Name: Wiedemann-Steiner syndrome
OrphaCode: 319182
DisorderType: Malformation syndrome
Name: 9p13 microdeletion syndrome
OrphaCode: 324313
DisorderType: Malformation syndrome
Name: Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
OrphaCode: 324416
DisorderType: Malformation syndrome
Name: Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
OrphaCode: 324540
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism
OrphaCode: 324761
DisorderType: Clinical group
Children: Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Alazami syndrome
OrphaCode: 319671
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Dauber type
OrphaCode: 319675
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism due to ZNF335 deficiency
OrphaCode: 329228
DisorderType: Malformation syndrome
Name: Microcephalic cortical malformations-short stature due to RTTN deficiency
OrphaCode: 468631
DisorderType: Malformation syndrome
Name: DNMT3A-related microcephalic dwarfism
OrphaCode: 658595
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Schuurs-Hoeijmakers syndrome
OrphaCode: 329224
DisorderType: Malformation syndrome
Name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
OrphaCode: 329332
DisorderType: Malformation syndrome
Name: 5p13 microduplication syndrome
OrphaCode: 329802
DisorderType: Malformation syndrome
Name: Autism spectrum disorder due to AUTS2 deficiency
OrphaCode: 352490
DisorderType: Disease
Name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
OrphaCode: 352530
DisorderType: Disease
Name: Bainbridge-Ropers syndrome
OrphaCode: 352577
DisorderType: Disease
Name: 19p13.13 microdeletion syndrome
OrphaCode: 357001
DisorderType: Malformation syndrome
Name: Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
OrphaCode: 357175
DisorderType: Malformation syndrome
Name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
OrphaCode: 363444
DisorderType: Malformation syndrome
Name: Intellectual disability-strabismus syndrome
OrphaCode: 363528
DisorderType: Disease
Name: CTCF-related neurodevelopmental disorder
OrphaCode: 363611
DisorderType: Disease
Name: 20q11.2 microduplication syndrome
OrphaCode: 363659
DisorderType: Malformation syndrome
Name: 2p13.2 microdeletion syndrome
OrphaCode: 363680
DisorderType: Malformation syndrome
Name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
OrphaCode: 363686
DisorderType: Disease
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Intellectual disability-brachydactyly-Pierre Robin syndrome
OrphaCode: 364577
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
OrphaCode: 369891
DisorderType: Malformation syndrome
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Intellectual disability-facial dysmorphism-hand anomalies syndrome
OrphaCode: 370010
DisorderType: Malformation syndrome
Name: Hypotonia-speech impairment-severe cognitive delay syndrome
OrphaCode: 371364
DisorderType: Disease
Name: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
OrphaCode: 391307
DisorderType: Malformation syndrome
Name: FOXP1 Syndrome
OrphaCode: 391372
DisorderType: Malformation syndrome
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: Macrocephaly-developmental delay syndrome
OrphaCode: 397612
DisorderType: Malformation syndrome
Name: 3q27.3 microdeletion syndrome
OrphaCode: 397695
DisorderType: Disease
Name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
OrphaCode: 397709
DisorderType: Malformation syndrome
Name: Microcephaly-thin corpus callosum-intellectual disability syndrome
OrphaCode: 397951
DisorderType: Disease
Name: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
OrphaCode: 397973
DisorderType: Disease
Name: 9q31.1q31.3 microdeletion syndrome
OrphaCode: 401923
DisorderType: Malformation syndrome
Name: 14q24.1q24.3 microdeletion syndrome
OrphaCode: 401935
DisorderType: Malformation syndrome
Name: MEND syndrome
OrphaCode: 401973
DisorderType: Malformation syndrome
Name: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
OrphaCode: 404440
DisorderType: Malformation syndrome
Name: Tatton-Brown-Rahman syndrome
OrphaCode: 404443
DisorderType: Malformation syndrome
Name: ADNP syndrome
OrphaCode: 404448
DisorderType: Malformation syndrome
Name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
OrphaCode: 404451
DisorderType: Malformation syndrome
Name: Severe intellectual disability-progressive spastic diplegia syndrome
OrphaCode: 404473
DisorderType: Malformation syndrome
Name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
OrphaCode: 411986
DisorderType: Malformation syndrome
Name: 13q12.3 microdeletion syndrome
OrphaCode: 412035
DisorderType: Malformation syndrome
Name: Temple-Baraitser syndrome
OrphaCode: 420561
DisorderType: Disease
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
OrphaCode: 423306
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: HIDEA syndrome
OrphaCode: 436141
DisorderType: Malformation syndrome
Name: Intellectual disability-expressive aphasia-facial dysmorphism syndrome
OrphaCode: 436151
DisorderType: Disease
Name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
OrphaCode: 436245
DisorderType: Disease
Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
OrphaCode: 438213
DisorderType: Disease
Children: Name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
OrphaCode: 314655
DisorderType: Etiological subtype
Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
OrphaCode: 438216
DisorderType: Etiological subtype
Name: PDE4D haploinsufficiency syndrome
OrphaCode: 439822
DisorderType: Malformation syndrome
Name: 11q22.2q22.3 microdeletion syndrome
OrphaCode: 444002
DisorderType: Malformation syndrome
Name: 20q11.2 microdeletion syndrome
OrphaCode: 444051
DisorderType: Malformation syndrome
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: PYCR2-related microcephaly-progressive leukoencephalopathy
OrphaCode: 481152
DisorderType: Malformation syndrome
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Char syndrome
OrphaCode: 46627
DisorderType: Malformation syndrome
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Potocki-Shaffer syndrome
OrphaCode: 52022
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Dysmorphism-conductive hearing loss-heart defect syndrome
OrphaCode: 289553
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: 1p31p32 microdeletion syndrome
OrphaCode: 401986
DisorderType: Malformation syndrome
Name: Malan overgrowth syndrome
OrphaCode: 420179
DisorderType: Malformation syndrome
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Ogden syndrome
OrphaCode: 276432
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: 2q32q33 microdeletion syndrome
OrphaCode: 251019
DisorderType: Malformation syndrome
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: Overgrowth-macrocephaly-facial dysmorphism syndrome
OrphaCode: 137634
DisorderType: Malformation syndrome
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Brachydactyly-nystagmus-cerebellar ataxia syndrome
OrphaCode: 1246
DisorderType: Malformation syndrome
Name: Isolated anencephaly/exencephaly
OrphaCode: 1048
DisorderType: Morphological anomaly
Children: Name: Isolated anencephaly
OrphaCode: 563609
DisorderType: Clinical subtype
Name: Isolated exencephaly
OrphaCode: 563612
DisorderType: Clinical subtype
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Distal deletion 1q
OrphaCode: 36367
DisorderType: Malformation syndrome
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Microlissencephaly-micromelia syndrome
OrphaCode: 50810
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Cerebrooculonasal syndrome
OrphaCode: 66625
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
OrphaCode: 73246
DisorderType: Malformation syndrome
Name: Brain malformation-congenital heart disease-postaxial polydactyly syndrome
OrphaCode: 75389
DisorderType: Malformation syndrome
Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: Grange syndrome
OrphaCode: 79094
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Seizures-intellectual disability due to hydroxylysinuria syndrome
OrphaCode: 79156
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
OrphaCode: 83617
DisorderType: Malformation syndrome
Name: Keutel syndrome
OrphaCode: 85202
DisorderType: Malformation syndrome
Name: S-adenosylhomocysteine hydrolase deficiency
OrphaCode: 88618
DisorderType: Disease
Name: Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
OrphaCode: 94066
DisorderType: Malformation syndrome
Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Abidi type
OrphaCode: 85273
DisorderType: Malformation syndrome
Name: Syndromic X-linked intellectual disability 7
OrphaCode: 85274
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Armfield type
OrphaCode: 85276
DisorderType: Malformation syndrome
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: KDM5C-related syndromic X-linked intellectual disability
OrphaCode: 85279
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
OrphaCode: 85280
DisorderType: Malformation syndrome
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Miles-Carpenter type
OrphaCode: 85283
DisorderType: Malformation syndrome
Name: BRESEK syndrome
OrphaCode: 85284
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Schimke type
OrphaCode: 85285
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Shashi type
OrphaCode: 85286
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Siderius type
OrphaCode: 85287
DisorderType: Malformation syndrome
Name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphaCode: 83473
DisorderType: Malformation syndrome
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: X-linked intellectual disability, Stocco Dos Santos type
OrphaCode: 85288
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Cabezas type
OrphaCode: 85293
DisorderType: Malformation syndrome
Name: X-linked spinocerebellar ataxia type 3
OrphaCode: 85297
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
OrphaCode: 85317
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
OrphaCode: 85319
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome
OrphaCode: 85320
DisorderType: Malformation syndrome
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Pai type
OrphaCode: 85322
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Seemanova type
OrphaCode: 85323
DisorderType: Disease
Name: X-linked intellectual disability, Shrimpton type
OrphaCode: 85324
DisorderType: Malformation syndrome
Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Restrictive dermopathy
OrphaCode: 1662
DisorderType: Disease
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: 17q24.2 microdeletion syndrome
OrphaCode: 529962
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
OrphaCode: 500159
DisorderType: Malformation syndrome
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Witteveen-Kolk syndrome
OrphaCode: 500163
DisorderType: Malformation syndrome
Children: Name: 15q24 microdeletion syndrome
OrphaCode: 94065
DisorderType: Etiological subtype
Name: SIN3-related intellectual disability syndrome due to a point mutation
OrphaCode: 500166
DisorderType: Etiological subtype
Name: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
OrphaCode: 500533
DisorderType: Disease
Name: Weiss-Kruszka Syndrome
OrphaCode: 502430
DisorderType: Malformation syndrome
Name: Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
OrphaCode: 1236
DisorderType: Malformation syndrome
Name: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OrphaCode: 1964
DisorderType: Malformation syndrome
Name: Pitt-Hopkins syndrome
OrphaCode: 2896
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
OrphaCode: 502434
DisorderType: Malformation syndrome
Name: Megalocornea-intellectual disability syndrome
OrphaCode: 2479
DisorderType: Malformation syndrome
Name: DYRK1A-related intellectual disability syndrome
OrphaCode: 464306
DisorderType: Malformation syndrome
Children: Name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
OrphaCode: 268261
DisorderType: Etiological subtype
Name: Intellectual disability syndrome due to a DYRK1A point mutation
OrphaCode: 464311
DisorderType: Etiological subtype
Name: Basel-Vanagaite-Smirin-Yosef syndrome
OrphaCode: 464738
DisorderType: Malformation syndrome
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Alopecia-contractures-dwarfism-intellectual disability syndrome
OrphaCode: 1005
DisorderType: Malformation syndrome
Name: Angelman syndrome
OrphaCode: 72
DisorderType: Malformation syndrome
Children: Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Angelman syndrome due to a point mutation
OrphaCode: 411511
DisorderType: Etiological subtype
Name: Angelman syndrome due to imprinting defect in 15q11-q13
OrphaCode: 411515
DisorderType: Etiological subtype
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Dyggve-Melchior-Clausen disease
OrphaCode: 239
DisorderType: Disease
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: Ring chromosome 10 syndrome
OrphaCode: 1438
DisorderType: Malformation syndrome
Name: 17p11.2 microduplication syndrome
OrphaCode: 1713
DisorderType: Malformation syndrome
Name: Epilepsy-microcephaly-skeletal dysplasia syndrome
OrphaCode: 1948
DisorderType: Malformation syndrome
Name: Epilepsy-telangiectasia syndrome
OrphaCode: 1951
DisorderType: Disease
Name: 3C syndrome
OrphaCode: 7
DisorderType: Malformation syndrome
Name: Agnathia-holoprosencephaly-situs inversus syndrome
OrphaCode: 990
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Ataxia-photosensitivity-short stature syndrome
OrphaCode: 1184
DisorderType: Malformation syndrome
Name: 19p13.3 microduplication syndrome
OrphaCode: 447980
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
OrphaCode: 466791
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
OrphaCode: 2233
DisorderType: Disease
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
OrphaCode: 642763
DisorderType: Malformation syndrome
Name: Xq25 microduplication syndrome
OrphaCode: 521258
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 3
OrphaCode: 488434
DisorderType: Malformation syndrome
Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
OrphaCode: 488627
DisorderType: Malformation syndrome
Name: TBCK-related intellectual disability syndrome
OrphaCode: 488632
DisorderType: Malformation syndrome
Name: TELO2-related intellectual disability-neurodevelopmental disorder
OrphaCode: 488642
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OrphaCode: 508498
DisorderType: Malformation syndrome
Name: PLAA-associated neurodevelopmental disorder
OrphaCode: 521426
DisorderType: Malformation syndrome
Name: Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
OrphaCode: 1321
DisorderType: Malformation syndrome
Name: Grubben-de Cock-Borghgraef syndrome
OrphaCode: 2101
DisorderType: Malformation syndrome
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: RERE-related neurodevelopmental syndrome
OrphaCode: 494344
DisorderType: Malformation syndrome
Name: Qazi-Markouizos syndrome
OrphaCode: 3010
DisorderType: Disease
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Microcephaly-brain defect-spasticity-hypernatremia syndrome
OrphaCode: 2523
DisorderType: Malformation syndrome
Name: Coffin-Lowry syndrome
OrphaCode: 192
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Autosomal dominant primary microcephaly
OrphaCode: 2514
DisorderType: Etiological subtype
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Yunis-Varon syndrome
OrphaCode: 3472
DisorderType: Malformation syndrome
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Otofaciocervical syndrome
OrphaCode: 2792
DisorderType: Malformation syndrome
Name: Keipert syndrome
OrphaCode: 2662
DisorderType: Malformation syndrome
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
OrphaCode: 2773
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
OrphaCode: 1014
DisorderType: Disease
Name: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
OrphaCode: 1110
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Craniodigital-intellectual disability syndrome
OrphaCode: 1514
DisorderType: Malformation syndrome
Name: Gómez-López-Hernández syndrome
OrphaCode: 1532
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Halal type
OrphaCode: 1809
DisorderType: Malformation syndrome
Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
OrphaCode: 1970
DisorderType: Malformation syndrome
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Microcephaly-glomerulonephritis-marfanoid habitus syndrome
OrphaCode: 2172
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Macrocephaly-spastic paraplegia-dysmorphism syndrome
OrphaCode: 2429
DisorderType: Malformation syndrome
Name: McDonough syndrome
OrphaCode: 2471
DisorderType: Malformation syndrome
Name: Autosomal recessive chorioretinopathy-microcephaly syndrome
OrphaCode: 2518
DisorderType: Malformation syndrome
Name: Lenz-Majewski hyperostotic dwarfism
OrphaCode: 2658
DisorderType: Malformation syndrome
Name: Stimmler syndrome
OrphaCode: 3199
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: MMEP syndrome
OrphaCode: 3434
DisorderType: Malformation syndrome
Name: Intellectual disability-short stature-hypertelorism syndrome
OrphaCode: 3074
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
OrphaCode: 1812
DisorderType: Malformation syndrome
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
OrphaCode: 352587
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: Hennekam-Beemer syndrome
OrphaCode: 2135
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Distal limb deficiencies-micrognathia syndrome
OrphaCode: 1307
DisorderType: Malformation syndrome
Name: Campomelia, Cumming type
OrphaCode: 1318
DisorderType: Malformation syndrome
Name: Cantú syndrome
OrphaCode: 1517
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Fryns syndrome
OrphaCode: 2059
DisorderType: Malformation syndrome
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: Holoprosencephaly-postaxial polydactyly syndrome
OrphaCode: 2166
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Sanjad-Sakati syndrome
OrphaCode: 2323
DisorderType: Malformation syndrome
Name: Osteopenia-intellectual disability-sparse hair syndrome
OrphaCode: 2324
DisorderType: Malformation syndrome
Name: Kapur-Toriello syndrome
OrphaCode: 2328
DisorderType: Malformation syndrome
Name: Marfanoid habitus-autosomal recessive intellectual disability syndrome
OrphaCode: 2463
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: Short stature-webbed neck-heart disease syndrome
OrphaCode: 2865
DisorderType: Malformation syndrome
Name: Pfeiffer-Palm-Teller syndrome
OrphaCode: 2871
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Aymé-Gripp syndrome
OrphaCode: 1272
DisorderType: Malformation syndrome
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Global developmental delay-osteopenia-ectodermal defect syndrome
OrphaCode: 73223
DisorderType: Malformation syndrome
Name: Ossification anomalies-psychomotor developmental delay syndrome
OrphaCode: 73230
DisorderType: Disease
Name: Aarskog-Scott syndrome
OrphaCode: 915
DisorderType: Malformation syndrome
Name: Lujan-Fryns syndrome
OrphaCode: 776
DisorderType: Malformation syndrome
Name: Ruvalcaba syndrome
OrphaCode: 3121
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
OrphaCode: 171703
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
OrphaCode: 457284
DisorderType: Malformation syndrome
Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
OrphaCode: 464282
DisorderType: Disease
Name: PMP22-RAI1 contiguous gene duplication syndrome
OrphaCode: 477817
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
OrphaCode: 513456
DisorderType: Disease
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: Cerebrocostomandibular syndrome
OrphaCode: 1393
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
OrphaCode: 1495
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrocardiofacial syndrome
OrphaCode: 2008
DisorderType: Malformation syndrome
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Floating-Harbor syndrome
OrphaCode: 2044
DisorderType: Malformation syndrome
Name: Prominent glabella-microcephaly-hypogenitalism syndrome
OrphaCode: 2083
DisorderType: Malformation syndrome
Name: GMS syndrome
OrphaCode: 2090
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
OrphaCode: 2743
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Autosomal recessive distal osteolysis syndrome
OrphaCode: 2776
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Fountain syndrome
OrphaCode: 3219
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Microcephaly-seizures-intellectual disability-heart disease syndrome
OrphaCode: 2519
DisorderType: Malformation syndrome
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OrphaCode: 3055
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Snyder type
OrphaCode: 3063
DisorderType: Disease
Name: VACTERL with hydrocephalus
OrphaCode: 3412
DisorderType: Malformation syndrome
Name: Van den Bosch syndrome
OrphaCode: 3417
DisorderType: Malformation syndrome
Name: Wilson-Turner syndrome
OrphaCode: 3459
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
OrphaCode: 457279
DisorderType: Malformation syndrome
Name: Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
OrphaCode: 457365
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
OrphaCode: 457485
DisorderType: Malformation syndrome
Name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
OrphaCode: 476126
DisorderType: Malformation syndrome
Name: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
OrphaCode: 529965
DisorderType: Malformation syndrome
Name: Lamb-Shaffer syndrome
OrphaCode: 530983
DisorderType: Disease
Children: Name: Developmental and speech delay due to SOX5 deficiency
OrphaCode: 313892
DisorderType: Clinical subtype
Name: 12p12.1 microdeletion syndrome
OrphaCode: 313884
DisorderType: Clinical subtype
Name: PRUNE1-related neurological syndrome
OrphaCode: 544469
DisorderType: Malformation syndrome
Name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
OrphaCode: 544488
DisorderType: Disease
Name: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
OrphaCode: 562569
DisorderType: Malformation syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Hypomandibular faciocranial dysostosis
OrphaCode: 1790
DisorderType: Malformation syndrome
Name: Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
OrphaCode: 2180
DisorderType: Malformation syndrome
Name: Isotretinoin-like syndrome
OrphaCode: 2306
DisorderType: Malformation syndrome
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like syndrome
OrphaCode: 603689
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Severe X-linked intellectual disability, Gustavson type
OrphaCode: 3078
DisorderType: Malformation syndrome
Name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
OrphaCode: 480880
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphaCode: 459074
DisorderType: Malformation syndrome
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: 4q25 proximal deletion syndrome
OrphaCode: 502437
DisorderType: Malformation syndrome
Name: Blepharonasofacial malformation syndrome
OrphaCode: 1252
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Cerebrofaciothoracic dysplasia
OrphaCode: 1394
DisorderType: Malformation syndrome
Name: Cryptorchidism-arachnodactyly-intellectual disability syndrome
OrphaCode: 1548
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Intellectual disability, Buenos-Aires type
OrphaCode: 3079
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: Urban-Rogers-Meyer syndrome
OrphaCode: 3409
DisorderType: Malformation syndrome
Name: Zimmermann-Laband syndrome
OrphaCode: 3473
DisorderType: Malformation syndrome
Name: Arachnodactyly-intellectual disability-dysmorphism syndrome
OrphaCode: 1130
DisorderType: Malformation syndrome
Name: Proximal Xq28 duplication syndrome
OrphaCode: 1762
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-seizures-psoriasis syndrome
OrphaCode: 3052
DisorderType: Disease
Name: Renpenning syndrome
OrphaCode: 3242
DisorderType: Malformation syndrome
Children: Name: X-linked intellectual disability, Porteous type
OrphaCode: 93945
DisorderType: Clinical subtype
Name: Hamel cerebro-palato-cardiac syndrome
OrphaCode: 93946
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Golabi-Ito-Hall type
OrphaCode: 93947
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Sutherland-Haan type
OrphaCode: 93950
DisorderType: Clinical subtype
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: 2q23.1 microdeletion syndrome
OrphaCode: 228402
DisorderType: Malformation syndrome
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
OrphaCode: 457359
DisorderType: Malformation syndrome
Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Gabriele-de Vries syndrome
OrphaCode: 506358
DisorderType: Malformation syndrome
Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Short stature-wormian bones-dextrocardia syndrome
OrphaCode: 2863
DisorderType: Malformation syndrome
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
OrphaCode: 228410
DisorderType: Malformation syndrome
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
OrphaCode: 664401
DisorderType: Etiological subtype
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Crane-Heise syndrome
OrphaCode: 1512
DisorderType: Malformation syndrome
Name: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
OrphaCode: 1825
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
OrphaCode: 1816
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OrphaCode: 2234
DisorderType: Malformation syndrome
Name: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
OrphaCode: 2521
DisorderType: Malformation syndrome
Name: Oculocerebrofacial syndrome, Kaufman type
OrphaCode: 2707
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Pseudoprogeria syndrome
OrphaCode: 2985
DisorderType: Malformation syndrome
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
OrphaCode: 1277
DisorderType: Malformation syndrome
Name: Intellectual disability-polydactyly-uncombable hair syndrome
OrphaCode: 3082
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
OrphaCode: 480907
DisorderType: Malformation syndrome
Name: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
OrphaCode: 457193
DisorderType: Malformation syndrome
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
OrphaCode: 457212
DisorderType: Disease
Name: Pierpont syndrome
OrphaCode: 487825
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
OrphaCode: 600668
DisorderType: Disease
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
OrphaCode: 619233
DisorderType: Disease
Name: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
OrphaCode: 659975
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
OrphaCode: 659904
DisorderType: Malformation syndrome
Name: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
OrphaCode: 660021
DisorderType: Malformation syndrome
Name: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
OrphaCode: 662762
DisorderType: Malformation syndrome
Name: Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662175
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
OrphaCode: 675775
DisorderType: Disease
Name: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
OrphaCode: 675782
DisorderType: Disease
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664410
DisorderType: Malformation syndrome
Children: Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
OrphaCode: 664416
DisorderType: Etiological subtype
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
OrphaCode: 664430
DisorderType: Malformation syndrome
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
OrphaCode: 646278
DisorderType: Disease
Name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
OrphaCode: 633004
DisorderType: Disease
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
OrphaCode: 632603
DisorderType: Malformation syndrome
Name: Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
OrphaCode: 662829
DisorderType: Disease
Name: CHD8 overgrowth syndrome
OrphaCode: 642675
DisorderType: Disease
Name: Cleft palate-congenital heart defect-intellectual disability syndrome
OrphaCode: 652519
DisorderType: Disease
Children: Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
OrphaCode: 652514
DisorderType: Clinical subtype
Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
OrphaCode: 261190
DisorderType: Clinical subtype
Name: CHD4-related neurodevelopmental disorder
OrphaCode: 653712
DisorderType: Disease
Name: Jansen-de Vries syndrome
OrphaCode: 653767
DisorderType: Disease
Name: Intellectual disability-cupped ears syndrome
OrphaCode: 656135
DisorderType: Disease
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: 16q22 deletion syndrome
OrphaCode: 658540
DisorderType: Disease
Name: Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
OrphaCode: 658843
DisorderType: Disease
Name: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
OrphaCode: 659702
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
OrphaCode: 662189
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
OrphaCode: 662198
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
OrphaCode: 662207
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
OrphaCode: 662234
DisorderType: Malformation syndrome
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
OrphaCode: 659609
DisorderType: Disease
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Congenital intrauterine infection-like syndrome
OrphaCode: 1229
DisorderType: Malformation syndrome
Name: Branchioskeletogenital syndrome
OrphaCode: 1299
DisorderType: Malformation syndrome
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Microcephalic primordial dwarfism, Montreal type
OrphaCode: 2617
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: Intellectual disability-balding-patella luxation-acromicria syndrome
OrphaCode: 3041
DisorderType: Malformation syndrome
Name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
OrphaCode: 3042
DisorderType: Malformation syndrome
Name: Telecanthus-hypertelorism-strabismus-pes cavus syndrome
OrphaCode: 3293
DisorderType: Malformation syndrome
Name: Cleft palate-short stature-vertebral anomalies syndrome
OrphaCode: 2015
DisorderType: Malformation syndrome
Name: Macrocephaly-short stature-paraplegia syndrome
OrphaCode: 2427
DisorderType: Malformation syndrome
Name: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
OrphaCode: 3207
DisorderType: Malformation syndrome
Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Pterygium colli-intellectual disability-digital anomalies syndrome
OrphaCode: 2988
DisorderType: Malformation syndrome
Name: Intellectual disability, Wolff type
OrphaCode: 3080
DisorderType: Malformation syndrome
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Omphalocele syndrome, Shprintzen-Goldberg type
OrphaCode: 3164
DisorderType: Malformation syndrome
Name: Spinocerebellar degeneration-corneal dystrophy syndrome
OrphaCode: 3177
DisorderType: Malformation syndrome
Name: Fallot complex-intellectual disability-growth delay syndrome
OrphaCode: 3304
DisorderType: Malformation syndrome
Name: Weaver-Williams syndrome
OrphaCode: 3448
DisorderType: Malformation syndrome
Name: Fryns-Smeets-Thiry syndrome
OrphaCode: 2058
DisorderType: Malformation syndrome
Name: Nicolaides-Baraitser syndrome
OrphaCode: 3051
DisorderType: Malformation syndrome
Name: Caudal appendage-deafness syndrome
OrphaCode: 1123
DisorderType: Malformation syndrome
Name: Atkin-Flaitz syndrome
OrphaCode: 1193
DisorderType: Malformation syndrome
Name: Intellectual disability-developmental delay-contractures syndrome
OrphaCode: 3454
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-short stature-overweight syndrome
OrphaCode: 457240
DisorderType: Malformation syndrome
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
OrphaCode: 466943
DisorderType: Malformation syndrome
Children: Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
OrphaCode: 284169
DisorderType: Clinical subtype
Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
OrphaCode: 466950
DisorderType: Clinical subtype
Name: White-Sutton syndrome
OrphaCode: 468678
DisorderType: Disease
Name: 16p12.1p12.3 triplication syndrome
OrphaCode: 485405
DisorderType: Malformation syndrome
Name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
OrphaCode: 505237
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
OrphaCode: 529665
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: Clark-Baraitser syndrome
OrphaCode: 600731
DisorderType: Malformation syndrome
Name: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
OrphaCode: 603448
DisorderType: Malformation syndrome
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Donnai-Barrow syndrome
OrphaCode: 2143
DisorderType: Malformation syndrome
Name: Mietens syndrome
OrphaCode: 2557
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Microgastria-limb reduction defect syndrome
OrphaCode: 2538
DisorderType: Malformation syndrome
Name: Bonnemann-Meinecke-Reich syndrome
OrphaCode: 1261
DisorderType: Malformation syndrome
Name: Cortical blindness-intellectual disability-polydactyly syndrome
OrphaCode: 1389
DisorderType: Malformation syndrome
Name: Temtamy syndrome
OrphaCode: 1777
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Hall-Riggs syndrome
OrphaCode: 2107
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Hypospadias-intellectual disability, Goldblatt type syndrome
OrphaCode: 2261
DisorderType: Malformation syndrome
Name: Hypotrichosis-intellectual disability, Lopes type
OrphaCode: 2266
DisorderType: Disease
Name: Johnson neuroectodermal syndrome
OrphaCode: 2316
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Microcephaly-cervical spine fusion anomalies syndrome
OrphaCode: 2522
DisorderType: Malformation syndrome
Name: Microcephaly-deafness-intellectual disability syndrome
OrphaCode: 2533
DisorderType: Malformation syndrome
Name: Cooper-Jabs syndrome
OrphaCode: 1488
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Bowen-Conradi syndrome
OrphaCode: 1270
DisorderType: Malformation syndrome
Name: Congenital heart defect-round face-developmental delay syndrome
OrphaCode: 1355
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Harrod syndrome
OrphaCode: 2115
DisorderType: Malformation syndrome
Name: Hernández-Aguirre Negrete syndrome
OrphaCode: 2139
DisorderType: Malformation syndrome
Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Upper limb defect-eye and ear abnormalities syndrome
OrphaCode: 2489
DisorderType: Malformation syndrome
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Myhre syndrome
OrphaCode: 2588
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Preaxial polydactyly-colobomata-intellectual disability syndrome
OrphaCode: 2921
DisorderType: Malformation syndrome
Name: Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
OrphaCode: 2928
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
OrphaCode: 3038
DisorderType: Malformation syndrome
Name: Say-Barber-Miller syndrome
OrphaCode: 3132
DisorderType: Malformation syndrome
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Facial dysmorphism-shawl scrotum-joint laxity syndrome
OrphaCode: 1778
DisorderType: Malformation syndrome
Name: Arachnodactyly-abnormal ossification-intellectual disability syndrome
OrphaCode: 1129
DisorderType: Malformation syndrome
Name: Paraplegia-intellectual disability-hyperkeratosis syndrome
OrphaCode: 2824
DisorderType: Malformation syndrome
Name: Keratosis follicularis-dwarfism-cerebral atrophy syndrome
OrphaCode: 2339
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
OrphaCode: 2958
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
OrphaCode: 500150
DisorderType: Malformation syndrome
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OrphaCode: 562528
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
OrphaCode: 599082
DisorderType: Malformation syndrome
Name: Microphthalmia with limb anomalies
OrphaCode: 1106
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Non-specific syndromic intellectual disability
OrphaCode: 528084
DisorderType: Disease
Name: Infectious disease of the nervous system
OrphaCode: 98010
DisorderType: Category
Children: Name: Poliomyelitis
OrphaCode: 2912
DisorderType: Disease
Name: Tetanus
OrphaCode: 3299
DisorderType: Disease
Name: Rabies
OrphaCode: 770
DisorderType: Disease
Name: Meningococcal meningitis
OrphaCode: 33475
DisorderType: Disease
Name: Pneumococcal meningitis
OrphaCode: 55655
DisorderType: Disease
Name: Infectious encephalitis
OrphaCode: 98252
DisorderType: Category
Children: Name: Chikungunya
OrphaCode: 324625
DisorderType: Disease
Name: Herpes simplex virus encephalitis
OrphaCode: 1930
DisorderType: Disease
Name: Tick-borne encephalitis
OrphaCode: 297
DisorderType: Disease
Name: Japanese encephalitis
OrphaCode: 79139
DisorderType: Disease
Name: West-Nile encephalitis
OrphaCode: 83476
DisorderType: Disease
Name: Mycoplasma encephalitis
OrphaCode: 83482
DisorderType: Disease
Name: La Crosse encephalitis
OrphaCode: 83483
DisorderType: Disease
Name: St. Louis encephalitis
OrphaCode: 83484
DisorderType: Disease
Name: Western equine encephalitis
OrphaCode: 83593
DisorderType: Disease
Name: Eastern equine encephalitis
OrphaCode: 83594
DisorderType: Disease
Name: Colorado tick fever
OrphaCode: 83595
DisorderType: Disease
Name: Rubella panencephalitis
OrphaCode: 83616
DisorderType: Disease
Name: Nipah virus disease
OrphaCode: 99825
DisorderType: Disease
Name: Klüver-Bucy syndrome
OrphaCode: 157823
DisorderType: Clinical syndrome
Name: Progressive multifocal leukoencephalopathy
OrphaCode: 217260
DisorderType: Disease
Name: Acute necrotizing encephalopathy of childhood
OrphaCode: 263524
DisorderType: Disease
Name: Hendra virus infection
OrphaCode: 324632
DisorderType: Disease
Name: Borna virus encephalitis
OrphaCode: 637051
DisorderType: Disease
Name: Chronic encephalitis
OrphaCode: 98255
DisorderType: Category
Children: Name: Rasmussen subacute encephalitis
OrphaCode: 1929
DisorderType: Disease
Name: Encephalitis lethargica
OrphaCode: 83600
DisorderType: Disease
Name: Subacute sclerosing leukoencephalitis
OrphaCode: 2806
DisorderType: Disease
Name: Rubella panencephalitis
OrphaCode: 83616
DisorderType: Disease
Name: Tropical spastic paraparesis
OrphaCode: 289326
DisorderType: Disease
Name: Central nervous system tuberculosis
OrphaCode: 641396
DisorderType: Disease
Name: Rare headache
OrphaCode: 98022
DisorderType: Category
Children: Name: Familial or sporadic hemiplegic migraine
OrphaCode: 569
DisorderType: Disease
Name: Trigeminal autonomic cephalalgia
OrphaCode: 157843
DisorderType: Clinical group
Children: Name: SUNCT syndrome
OrphaCode: 57145
DisorderType: Disease
Name: Paroxysmal hemicrania
OrphaCode: 157835
DisorderType: Disease
Name: Hemicrania continua
OrphaCode: 443070
DisorderType: Disease
Name: Hypnic headache
OrphaCode: 276429
DisorderType: Disease
Name: Reversible cerebral vasoconstriction syndrome
OrphaCode: 284388
DisorderType: Clinical syndrome
Name: Spontaneous intracranial hypotension
OrphaCode: 443180
DisorderType: Disease
Name: Burning mouth syndrome
OrphaCode: 353253
DisorderType: Disease
Name: Rare neurologic disease with psychiatric involvement
OrphaCode: 98033
DisorderType: Category
Children: Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Angelman syndrome
OrphaCode: 72
DisorderType: Malformation syndrome
Children: Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Angelman syndrome due to a point mutation
OrphaCode: 411511
DisorderType: Etiological subtype
Name: Angelman syndrome due to imprinting defect in 15q11-q13
OrphaCode: 411515
DisorderType: Etiological subtype
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Rare dementia
OrphaCode: 89043
DisorderType: Category
Children: Name: Bilateral striopallidodentate calcinosis
OrphaCode: 1980
DisorderType: Disease
Name: Neuronal intranuclear inclusion disease
OrphaCode: 2289
DisorderType: Disease
Name: Posterior cortical atrophy
OrphaCode: 54247
DisorderType: Disease
Name: X-linked spinocerebellar ataxia type 4
OrphaCode: 85292
DisorderType: Disease
Name: Dementia pugilistica
OrphaCode: 97353
DisorderType: Disease
Name: Caribbean parkinsonism
OrphaCode: 97355
DisorderType: Disease
Name: Neurodegenerative disease with dementia
OrphaCode: 98534
DisorderType: Category
Children: Name: Huntington disease
OrphaCode: 399
DisorderType: Disease
Name: Early-onset autosomal dominant Alzheimer disease
OrphaCode: 1020
DisorderType: Disease
Name: Parkinson-dementia complex of Guam
OrphaCode: 90020
DisorderType: Disease
Name: Primary progressive aphasia
OrphaCode: 95432
DisorderType: Clinical group
Children: Name: Semantic dementia
OrphaCode: 100069
DisorderType: Disease
Name: Progressive non-fluent aphasia
OrphaCode: 100070
DisorderType: Disease
Name: Logopenic progressive aphasia
OrphaCode: 250831
DisorderType: Disease
Name: Frontotemporal degeneration with dementia
OrphaCode: 98535
DisorderType: Clinical group
Children: Name: Progressive supranuclear palsy
OrphaCode: 683
DisorderType: Disease
Children: Name: Atypical progressive supranuclear palsy syndrome
OrphaCode: 99750
DisorderType: Clinical subtype
Children: Name: Progressive supranuclear palsy-predominant parkinsonism syndrome
OrphaCode: 240085
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
OrphaCode: 240094
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-corticobasal syndrome
OrphaCode: 240103
DisorderType: Clinical subtype
Name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
OrphaCode: 240112
DisorderType: Clinical subtype
Name: Classic progressive supranuclear palsy syndrome
OrphaCode: 240071
DisorderType: Clinical subtype
Name: Frontotemporal dementia
OrphaCode: 282
DisorderType: Clinical group
Children: Name: Semantic dementia
OrphaCode: 100069
DisorderType: Disease
Name: Progressive non-fluent aphasia
OrphaCode: 100070
DisorderType: Disease
Name: Behavioral variant of frontotemporal dementia
OrphaCode: 275864
DisorderType: Disease
Name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
OrphaCode: 52430
DisorderType: Disease
Name: Frontotemporal dementia with motor neuron disease
OrphaCode: 275872
DisorderType: Disease
Name: Corticobasal syndrome
OrphaCode: 454887
DisorderType: Disease
Name: Ataxia with dementia
OrphaCode: 98538
DisorderType: Category
Children: Name: Early-onset ataxia with dementia
OrphaCode: 98539
DisorderType: Category
Children: Name: Autosomal recessive cerebellar ataxia
OrphaCode: 1172
DisorderType: Category
Children: Name: Autosomal recessive ataxia, Beauce type
OrphaCode: 88644
DisorderType: Disease
Name: Autosomal recessive congenital cerebellar ataxia
OrphaCode: 98095
DisorderType: Category
Children: Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Dysequilibrium syndrome
OrphaCode: 1766
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Cerebellar ataxia, Cayman type
OrphaCode: 94122
DisorderType: Disease
Name: Joubert syndrome and related disorders
OrphaCode: 140874
DisorderType: Category
Children: Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
OrphaCode: 453521
DisorderType: Disease
Name: Congenital cerebellar ataxia due to RNU12 mutation
OrphaCode: 512260
DisorderType: Disease
Name: Autosomal recessive metabolic cerebellar ataxia
OrphaCode: 98096
DisorderType: Category
Children: Name: Autosomal recessive ataxia due to PEX2 deficiency
OrphaCode: 642965
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Recessive mitochondrial ataxia syndrome
OrphaCode: 94125
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX10 deficiency
OrphaCode: 247815
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia with late-onset spasticity
OrphaCode: 352641
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
OrphaCode: 363429
DisorderType: Disease
Children: Name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
OrphaCode: 324262
DisorderType: Clinical subtype
Name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
OrphaCode: 363432
DisorderType: Clinical subtype
Name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
OrphaCode: 95433
DisorderType: Disease
Name: Autosomal recessive ataxia due to PEX16 deficiency
OrphaCode: 642954
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to a DNA repair defect
OrphaCode: 98097
DisorderType: Category
Children: Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 1
OrphaCode: 94124
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Ataxia-telangiectasia-like disorder
OrphaCode: 251347
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: RIDDLE syndrome
OrphaCode: 420741
DisorderType: Malformation syndrome
Name: Autosomal recessive degenerative and progressive cerebellar ataxia
OrphaCode: 98098
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Early-onset cerebellar ataxia with retained tendon reflexes
OrphaCode: 1177
DisorderType: Disease
Name: Infantile-onset spinocerebellar ataxia
OrphaCode: 1186
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Posterior column ataxia-retinitis pigmentosa syndrome
OrphaCode: 88628
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Autosomal recessive syndromic cerebellar ataxia
OrphaCode: 98099
DisorderType: Category
Children: Name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
OrphaCode: 95434
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
OrphaCode: 284271
DisorderType: Disease
Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Adult-onset autosomal recessive cerebellar ataxia
OrphaCode: 284289
DisorderType: Disease
Name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
OrphaCode: 284324
DisorderType: Disease
Name: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
OrphaCode: 284332
DisorderType: Disease
Name: Spectrin-associated autosomal recessive cerebellar ataxia
OrphaCode: 352403
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
OrphaCode: 404481
DisorderType: Clinical group
Children: Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
OrphaCode: 284282
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
OrphaCode: 404493
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
OrphaCode: 404499
DisorderType: Disease
Name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
OrphaCode: 412057
DisorderType: Disease
Name: Late-onset ataxia with dementia
OrphaCode: 98540
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia
OrphaCode: 99
DisorderType: Category
Children: Name: Autosomal dominant cerebellar ataxia type I
OrphaCode: 94145
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 19/22
OrphaCode: 98772
DisorderType: Disease
Name: Spinocerebellar ataxia type 21
OrphaCode: 98773
DisorderType: Disease
Name: Spinocerebellar ataxia type 23
OrphaCode: 101108
DisorderType: Disease
Name: Spinocerebellar ataxia type 28
OrphaCode: 101109
DisorderType: Disease
Name: Spinocerebellar ataxia type 20
OrphaCode: 101110
DisorderType: Disease
Name: Spinocerebellar ataxia type 25
OrphaCode: 101111
DisorderType: Disease
Name: Spinocerebellar ataxia type 29
OrphaCode: 208513
DisorderType: Disease
Name: Spinocerebellar ataxia type 32
OrphaCode: 276183
DisorderType: Disease
Name: Spinocerebellar ataxia type 35
OrphaCode: 276193
DisorderType: Disease
Name: Spinocerebellar ataxia type 36
OrphaCode: 276198
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Non-progressive cerebellar ataxia with intellectual disability
OrphaCode: 314647
DisorderType: Disease
Name: Spinocerebellar ataxia type 37
OrphaCode: 363710
DisorderType: Disease
Name: Spinocerebellar ataxia type 40
OrphaCode: 423275
DisorderType: Disease
Name: Spinocerebellar ataxia type 34
OrphaCode: 1955
DisorderType: Disease
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Spinocerebellar ataxia type 3
OrphaCode: 98757
DisorderType: Disease
Children: Name: Machado-Joseph disease type 1
OrphaCode: 276238
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 2
OrphaCode: 276241
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 3
OrphaCode: 276244
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Spinocerebellar ataxia type 8
OrphaCode: 98760
DisorderType: Disease
Name: Spinocerebellar ataxia type 12
OrphaCode: 98762
DisorderType: Disease
Name: Spinocerebellar ataxia type 14
OrphaCode: 98763
DisorderType: Disease
Name: Spinocerebellar ataxia type 27
OrphaCode: 98764
DisorderType: Disease
Name: Spinocerebellar ataxia type 4
OrphaCode: 98765
DisorderType: Disease
Name: Spinocerebellar ataxia type 13
OrphaCode: 98768
DisorderType: Disease
Name: Spinocerebellar ataxia type 15/16
OrphaCode: 98769
DisorderType: Disease
Name: Spinocerebellar ataxia type 18
OrphaCode: 98771
DisorderType: Disease
Name: Spinocerebellar ataxia type 43
OrphaCode: 497764
DisorderType: Disease
Name: PUM1-associated developmental disability-ataxia-seizure syndrome
OrphaCode: 589515
DisorderType: Disease
Name: Spinocerebellar ataxia type 46
OrphaCode: 589522
DisorderType: Disease
Name: Spinocerebellar ataxia type 48
OrphaCode: 631103
DisorderType: Disease
Name: Spinocerebellar ataxia type 27B
OrphaCode: 675216
DisorderType: Disease
Name: Spinocerebellar ataxia type 49
OrphaCode: 631106
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type III
OrphaCode: 94148
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 45
OrphaCode: 589527
DisorderType: Disease
Name: Spinocerebellar ataxia type 44
OrphaCode: 631095
DisorderType: Disease
Name: Spinocerebellar ataxia type 6
OrphaCode: 98758
DisorderType: Disease
Name: Spinocerebellar ataxia type 5
OrphaCode: 98766
DisorderType: Disease
Name: Spinocerebellar ataxia type 11
OrphaCode: 98767
DisorderType: Disease
Name: Spinocerebellar ataxia type 26
OrphaCode: 101112
DisorderType: Disease
Name: Spinocerebellar ataxia type 30
OrphaCode: 211017
DisorderType: Disease
Name: Spinocerebellar ataxia type 31
OrphaCode: 217012
DisorderType: Disease
Name: Spinocerebellar ataxia type 38
OrphaCode: 423296
DisorderType: Disease
Name: Spinocerebellar ataxia type 41
OrphaCode: 458798
DisorderType: Disease
Name: Spinocerebellar ataxia type 42
OrphaCode: 458803
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type IV
OrphaCode: 94149
DisorderType: Clinical group
Children: Name: Dentatorubral pallidoluysian atrophy
OrphaCode: 101
DisorderType: Disease
Name: Spinocerebellar ataxia type 10
OrphaCode: 98761
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia type II
OrphaCode: 208508
DisorderType: Clinical group
Children: Name: Spinocerebellar ataxia type 7
OrphaCode: 94147
DisorderType: Disease
Name: PUM1-related cerebellar ataxia
OrphaCode: 642747
DisorderType: Disease
Name: Juvenile Huntington disease
OrphaCode: 248111
DisorderType: Disease
Name: Huntington disease-like syndrome due to C9ORF72 expansions
OrphaCode: 401901
DisorderType: Disease
Name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
OrphaCode: 412066
DisorderType: Disease
Name: ITM2B amyloidosis
OrphaCode: 439254
DisorderType: Disease
Children: Name: ABri amyloidosis
OrphaCode: 97345
DisorderType: Clinical subtype
Name: ADan amyloidosis
OrphaCode: 97346
DisorderType: Clinical subtype
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: Human prion disease
OrphaCode: 56970
DisorderType: Category
Children: Name: Inherited human prion disease
OrphaCode: 280400
DisorderType: Category
Children: Name: Gerstmann-Straussler-Scheinker syndrome
OrphaCode: 356
DisorderType: Disease
Name: Fatal familial insomnia
OrphaCode: 466
DisorderType: Disease
Name: Huntington disease-like 1
OrphaCode: 157941
DisorderType: Disease
Name: Familial Alzheimer-like prion disease
OrphaCode: 280397
DisorderType: Disease
Name: Inherited Creutzfeldt-Jakob disease
OrphaCode: 282166
DisorderType: Disease
Name: PrP systemic amyloidosis
OrphaCode: 397606
DisorderType: Disease
Name: Sporadic human prion disease
OrphaCode: 576356
DisorderType: Category
Children: Name: Sporadic Creutzfeldt-Jakob disease
OrphaCode: 204
DisorderType: Disease
Name: Variably protease-sensitive prionopathy
OrphaCode: 454742
DisorderType: Disease
Name: Sporadic fatal insomnia
OrphaCode: 586130
DisorderType: Disease
Name: Acquired human prion disease
OrphaCode: 576360
DisorderType: Category
Children: Name: Kuru
OrphaCode: 454745
DisorderType: Disease
Name: Acquired Creutzfeldt-Jakob disease
OrphaCode: 454700
DisorderType: Clinical group
Children: Name: Variant Creutzfeldt-Jakob disease
OrphaCode: 576370
DisorderType: Disease
Name: Iatrogenic Creutzfeldt-Jakob disease
OrphaCode: 576379
DisorderType: Disease
Name: Neurodegeneration with brain iron accumulation
OrphaCode: 385
DisorderType: Clinical group
Children: Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Beta-propeller protein-associated neurodegeneration
OrphaCode: 329284
DisorderType: Disease
Name: PLA2G6-associated neurodegeneration
OrphaCode: 329303
DisorderType: Clinical group
Children: Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Adult-onset dystonia-parkinsonism
OrphaCode: 199351
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: COASY protein-associated neurodegeneration
OrphaCode: 397725
DisorderType: Disease
Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Hereditary late-onset Parkinson disease
OrphaCode: 411602
DisorderType: Disease
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
OrphaCode: 313808
DisorderType: Disease
Name: Neuroacanthocytosis
OrphaCode: 263440
DisorderType: Clinical group
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Huntington disease-like 2
OrphaCode: 98934
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Infectious disease with dementia
OrphaCode: 98542
DisorderType: Category
Children: Name: Herpes simplex virus encephalitis
OrphaCode: 1930
DisorderType: Disease
Name: Postencephalitic parkinsonism
OrphaCode: 97349
DisorderType: Disease
Name: Metabolic disease with dementia
OrphaCode: 98543
DisorderType: Category
Children: Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Cerebral lipidosis with dementia
OrphaCode: 98544
DisorderType: Category
Children: Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Niemann-Pick disease type C
OrphaCode: 646
DisorderType: Disease
Children: Name: Niemann-Pick disease type C, severe perinatal form
OrphaCode: 216972
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, severe early infantile neurologic onset
OrphaCode: 216975
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, late infantile neurologic onset
OrphaCode: 216978
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, juvenile neurologic onset
OrphaCode: 216981
DisorderType: Clinical subtype
Name: Niemann-Pick disease type C, adult neurologic onset
OrphaCode: 216986
DisorderType: Clinical subtype
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Adult Krabbe disease
OrphaCode: 206448
DisorderType: Clinical subtype
Name: Neuronal ceroid lipofuscinosis
OrphaCode: 216
DisorderType: Clinical group
Children: Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: CLN1 disease
OrphaCode: 228329
DisorderType: Disease
Name: CLN2 disease
OrphaCode: 228349
DisorderType: Disease
Name: CLN3 disease
OrphaCode: 228346
DisorderType: Disease
Name: CLN4 disease
OrphaCode: 228343
DisorderType: Disease
Name: Progressive myoclonic epilepsy type 3
OrphaCode: 263516
DisorderType: Disease
Name: CLN12 disease
OrphaCode: 314632
DisorderType: Disease
Name: CLN11 disease
OrphaCode: 314629
DisorderType: Disease
Name: CLN5 disease
OrphaCode: 228360
DisorderType: Disease
Name: CLN6 disease
OrphaCode: 228363
DisorderType: Disease
Name: CLN7 disease
OrphaCode: 228366
DisorderType: Disease
Name: CLN8 disease
OrphaCode: 228354
DisorderType: Disease
Name: CLN13 disease
OrphaCode: 352709
DisorderType: Disease
Name: CLN10 disease
OrphaCode: 228337
DisorderType: Disease
Name: Rare cerebrovascular dementia
OrphaCode: 98549
DisorderType: Category
Children: Name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 136
DisorderType: Disease
Name: Cerebral Amyloid Angiopathy
OrphaCode: 85458
DisorderType: Disease
Children: Name: ABeta amyloidosis, Dutch type
OrphaCode: 100006
DisorderType: Clinical subtype
Name: ACys amyloidosis
OrphaCode: 100008
DisorderType: Clinical subtype
Name: ABetaL34V amyloidosis
OrphaCode: 324703
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Iowa type
OrphaCode: 324708
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Italian type
OrphaCode: 324713
DisorderType: Clinical subtype
Name: ABetaA21G amyloidosis
OrphaCode: 324718
DisorderType: Clinical subtype
Name: ABeta amyloidosis, Arctic type
OrphaCode: 324723
DisorderType: Clinical subtype
Name: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
OrphaCode: 575553
DisorderType: Disease
Name: Huntington disease-like syndrome
OrphaCode: 158266
DisorderType: Clinical group
Children: Name: Dentatorubral pallidoluysian atrophy
OrphaCode: 101
DisorderType: Disease
Name: Benign hereditary chorea
OrphaCode: 1429
DisorderType: Disease
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Spinocerebellar ataxia type 3
OrphaCode: 98757
DisorderType: Disease
Children: Name: Machado-Joseph disease type 1
OrphaCode: 276238
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 2
OrphaCode: 276241
DisorderType: Clinical subtype
Name: Machado-Joseph disease type 3
OrphaCode: 276244
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 17
OrphaCode: 98759
DisorderType: Disease
Name: Neuroferritinopathy
OrphaCode: 157846
DisorderType: Disease
Name: Huntington disease-like 3
OrphaCode: 157946
DisorderType: Disease
Name: Neuroacanthocytosis
OrphaCode: 263440
DisorderType: Clinical group
Children: Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: McLeod neuroacanthocytosis syndrome
OrphaCode: 59306
DisorderType: Disease
Name: Huntington disease-like 2
OrphaCode: 98934
DisorderType: Disease
Name: Pantothenate kinase-associated neurodegeneration
OrphaCode: 157850
DisorderType: Disease
Children: Name: Classic pantothenate kinase-associated neurodegeneration
OrphaCode: 216866
DisorderType: Clinical subtype
Name: Atypical pantothenate kinase-associated neurodegeneration
OrphaCode: 216873
DisorderType: Clinical subtype
Name: Childhood-onset benign chorea with striatal involvement
OrphaCode: 494541
DisorderType: Disease
Name: HTRA1-related cerebral small vessel disease
OrphaCode: 482072
DisorderType: Clinical group
Children: Name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 199354
DisorderType: Disease
Name: HTRA1-related autosomal dominant cerebral small vessel disease
OrphaCode: 482077
DisorderType: Disease
Name: Rare pervasive developmental disorder
OrphaCode: 168778
DisorderType: Category
Children: Name: Rett syndrome
OrphaCode: 778
DisorderType: Disease
Name: Atypical Rett syndrome
OrphaCode: 3095
DisorderType: Disease
Name: Childhood disintegrative disorder
OrphaCode: 168782
DisorderType: Disease
Name: Rare disease with autism
OrphaCode: 180772
DisorderType: Category
Children: Name: Timothy syndrome
OrphaCode: 65283
DisorderType: Malformation syndrome
Children: Name: Timothy syndrome type 1
OrphaCode: 595098
DisorderType: Clinical subtype
Name: Timothy syndrome type 2
OrphaCode: 595105
DisorderType: Clinical subtype
Name: Atypical Timothy syndrome
OrphaCode: 595109
DisorderType: Clinical subtype
Name: Xq12-q13.3 duplication syndrome
OrphaCode: 314389
DisorderType: Malformation syndrome
Name: Developmental delay with autism spectrum disorder and gait instability
OrphaCode: 329195
DisorderType: Disease
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Adenylosuccinate lyase deficiency
OrphaCode: 46
DisorderType: Disease
Name: Inverted duplicated chromosome 15 syndrome
OrphaCode: 3306
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: 1p21.3 microdeletion syndrome
OrphaCode: 293948
DisorderType: Malformation syndrome
Name: Autism spectrum disorder due to AUTS2 deficiency
OrphaCode: 352490
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: Early-onset obesity-hyperphagia-severe developmental delay syndrome
OrphaCode: 99704
DisorderType: Disease
Name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
OrphaCode: 500545
DisorderType: Disease
Name: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
OrphaCode: 589547
DisorderType: Disease
Name: Atypical autism
OrphaCode: 199627
DisorderType: Disease
Name: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
OrphaCode: 600663
DisorderType: Malformation syndrome
Name: FOXG1 syndrome
OrphaCode: 561854
DisorderType: Disease
Children: Name: FOXG1 syndrome due to intragenic alteration
OrphaCode: 598164
DisorderType: Clinical subtype
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: CDKL5-deficiency disorder
OrphaCode: 505652
DisorderType: Disease
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
OrphaCode: 420789
DisorderType: Disease
Name: Steroid-responsive encephalopathy associated with autoimmune thyroiditis
OrphaCode: 83601
DisorderType: Disease
Name: Idiopathic catatonia
OrphaCode: 648919
DisorderType: Disease
Name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
OrphaCode: 647799
DisorderType: Disease
Name: Prepubertal anorexia nervosa
OrphaCode: 525738
DisorderType: Disease
Name: Postpartum psychosis
OrphaCode: 443173
DisorderType: Disease
Name: Body integrity dysphoria
OrphaCode: 623789
DisorderType: Disease
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: Childhood-onset schizophrenia
OrphaCode: 641496
DisorderType: Disease
Name: Central nervous system malformation
OrphaCode: 98044
DisorderType: Category
Children: Name: Non-syndromic central nervous system malformation
OrphaCode: 108989
DisorderType: Category
Children: Name: Congenital hydrocephalus
OrphaCode: 2185
DisorderType: Malformation syndrome
Children: Name: Congenital communicating hydrocephalus
OrphaCode: 269505
DisorderType: Clinical subtype
Name: Congenital non-communicating hydrocephalus
OrphaCode: 269510
DisorderType: Clinical subtype
Name: Neural tube defect
OrphaCode: 3388
DisorderType: Category
Children: Name: Neural tube closure defect
OrphaCode: 268357
DisorderType: Category
Children: Name: Spina bifida and other spinal dysraphisms
OrphaCode: 823
DisorderType: Category
Children: Name: Open spinal dysraphism
OrphaCode: 268369
DisorderType: Clinical group
Children: Name: Open spinal dysraphism with a posterior meningocele
OrphaCode: 645270
DisorderType: Clinical group
Children: Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a myelomeningocele
OrphaCode: 93969
DisorderType: Morphological anomaly
Children: Name: True myelomeningocele
OrphaCode: 645383
DisorderType: Clinical subtype
Name: Hemi-myelomeningocele
OrphaCode: 645388
DisorderType: Clinical subtype
Name: Myeloschisis
OrphaCode: 645398
DisorderType: Morphological anomaly
Children: Name: True myeloschisis
OrphaCode: 645401
DisorderType: Clinical subtype
Name: Hemi-myeloschisis
OrphaCode: 645393
DisorderType: Clinical subtype
Name: Spinal dysraphism with a posterior meningocele
OrphaCode: 268744
DisorderType: Clinical group
Children: Name: Isolated posterior meningocele
OrphaCode: 268810
DisorderType: Morphological anomaly
Name: Myelocystocele
OrphaCode: 268813
DisorderType: Clinical group
Children: Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Non-terminal myelocystocele
OrphaCode: 645340
DisorderType: Morphological anomaly
Name: Saccular spinal dysraphism with a stalk to the dome
OrphaCode: 645319
DisorderType: Clinical group
Children: Name: Saccular limited dorsal myeloschisis
OrphaCode: 645354
DisorderType: Morphological anomaly
Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a posterior meningocele
OrphaCode: 645270
DisorderType: Clinical group
Children: Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a myelomeningocele
OrphaCode: 93969
DisorderType: Morphological anomaly
Children: Name: True myelomeningocele
OrphaCode: 645383
DisorderType: Clinical subtype
Name: Hemi-myelomeningocele
OrphaCode: 645388
DisorderType: Clinical subtype
Name: Closed spinal dysraphism
OrphaCode: 645202
DisorderType: Clinical group
Children: Name: Split cord malformation
OrphaCode: 573278
DisorderType: Clinical group
Children: Name: Split cord malformation type II
OrphaCode: 573253
DisorderType: Morphological anomaly
Name: Split cord malformation type I
OrphaCode: 1671
DisorderType: Morphological anomaly
Name: Split cord malformation, composite type
OrphaCode: 633076
DisorderType: Morphological anomaly
Name: Isolated posterior meningocele
OrphaCode: 268810
DisorderType: Morphological anomaly
Name: Myelocystocele
OrphaCode: 268813
DisorderType: Clinical group
Children: Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Non-terminal myelocystocele
OrphaCode: 645340
DisorderType: Morphological anomaly
Name: Segmental spinal dysgenesis
OrphaCode: 656126
DisorderType: Disease
Name: Dysraphic spinal cord lipoma
OrphaCode: 645273
DisorderType: Clinical group
Children: Name: Dorsal spinal cord lipoma
OrphaCode: 645362
DisorderType: Morphological anomaly
Name: Conus spinal cord lipoma
OrphaCode: 645367
DisorderType: Clinical group
Children: Name: Chaotic conus spinal cord lipoma
OrphaCode: 645285
DisorderType: Morphological anomaly
Name: Extramedullary conus spinal cord lipoma
OrphaCode: 645297
DisorderType: Morphological anomaly
Children: Name: Transitional extramedullary conus spinal cord lipoma
OrphaCode: 645291
DisorderType: Clinical subtype
Name: Terminal extramedullary conus spinal cord lipoma
OrphaCode: 645288
DisorderType: Clinical subtype
Name: Posterior extramedullary conus spinal cord lipoma
OrphaCode: 645294
DisorderType: Clinical subtype
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Dysraphism with stalk
OrphaCode: 645193
DisorderType: Clinical group
Children: Name: Retained medullary cord
OrphaCode: 645334
DisorderType: Morphological anomaly
Name: Spinal dermal sinus
OrphaCode: 645188
DisorderType: Morphological anomaly
Name: Limited dorsal myeloschisis
OrphaCode: 645196
DisorderType: Clinical group
Children: Name: Non-saccular limited dorsal myeloschisis
OrphaCode: 645343
DisorderType: Morphological anomaly
Children: Name: Fibroneural non-saccular limited dorsal myeloschisis
OrphaCode: 645310
DisorderType: Histopathological subtype
Name: Lipomatous non-saccular limited dorsal myeloschisis
OrphaCode: 645300
DisorderType: Histopathological subtype
Name: Saccular spinal dysraphism with a stalk to the dome
OrphaCode: 645319
DisorderType: Clinical group
Children: Name: Saccular limited dorsal myeloschisis
OrphaCode: 645354
DisorderType: Morphological anomaly
Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Anomaly of the filum
OrphaCode: 645282
DisorderType: Clinical group
Children: Name: Fibrolipomatous filum anomaly
OrphaCode: 645279
DisorderType: Clinical group
Children: Name: Isolated filum lipoma
OrphaCode: 645325
DisorderType: Morphological anomaly
Name: Isolated transitional filum lipoma
OrphaCode: 645322
DisorderType: Morphological anomaly
Name: Retained medullary cord
OrphaCode: 645334
DisorderType: Morphological anomaly
Name: Spinal cord lipoma
OrphaCode: 645276
DisorderType: Clinical group
Children: Name: Intramedullary non-dysraphic spinal cord lipoma
OrphaCode: 645359
DisorderType: Morphological anomaly
Name: Dysraphic spinal cord lipoma
OrphaCode: 645273
DisorderType: Clinical group
Children: Name: Dorsal spinal cord lipoma
OrphaCode: 645362
DisorderType: Morphological anomaly
Name: Conus spinal cord lipoma
OrphaCode: 645367
DisorderType: Clinical group
Children: Name: Chaotic conus spinal cord lipoma
OrphaCode: 645285
DisorderType: Morphological anomaly
Name: Extramedullary conus spinal cord lipoma
OrphaCode: 645297
DisorderType: Morphological anomaly
Children: Name: Transitional extramedullary conus spinal cord lipoma
OrphaCode: 645291
DisorderType: Clinical subtype
Name: Terminal extramedullary conus spinal cord lipoma
OrphaCode: 645288
DisorderType: Clinical subtype
Name: Posterior extramedullary conus spinal cord lipoma
OrphaCode: 645294
DisorderType: Clinical subtype
Name: Malformation of the neurenteric canal, spinal cord and column
OrphaCode: 268843
DisorderType: Category
Children: Name: Craniorachischisis
OrphaCode: 63260
DisorderType: Morphological anomaly
Name: Isolated anencephaly/exencephaly
OrphaCode: 1048
DisorderType: Morphological anomaly
Children: Name: Isolated anencephaly
OrphaCode: 563609
DisorderType: Clinical subtype
Name: Isolated exencephaly
OrphaCode: 563612
DisorderType: Clinical subtype
Name: Iniencephaly
OrphaCode: 63259
DisorderType: Morphological anomaly
Children: Name: Open iniencephaly
OrphaCode: 268363
DisorderType: Clinical subtype
Name: Closed iniencephaly
OrphaCode: 268366
DisorderType: Clinical subtype
Name: Cephalocele
OrphaCode: 268817
DisorderType: Clinical group
Children: Name: Isolated encephalocele
OrphaCode: 199647
DisorderType: Morphological anomaly
Children: Name: Occipital encephalocele
OrphaCode: 268823
DisorderType: Clinical subtype
Name: Parietal encephalocele
OrphaCode: 268826
DisorderType: Clinical subtype
Name: Basal encephalocele
OrphaCode: 268829
DisorderType: Clinical subtype
Name: Frontal encephalocele
OrphaCode: 1931
DisorderType: Clinical subtype
Name: Nasal encephalocele
OrphaCode: 141118
DisorderType: Clinical subtype
Name: Cranial meningocele
OrphaCode: 268820
DisorderType: Morphological anomaly
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Split cord malformation
OrphaCode: 573278
DisorderType: Clinical group
Children: Name: Split cord malformation type II
OrphaCode: 573253
DisorderType: Morphological anomaly
Name: Split cord malformation type I
OrphaCode: 1671
DisorderType: Morphological anomaly
Name: Split cord malformation, composite type
OrphaCode: 633076
DisorderType: Morphological anomaly
Name: Segmental spinal dysgenesis
OrphaCode: 656126
DisorderType: Disease
Name: Lateral meningocele syndrome
OrphaCode: 2789
DisorderType: Malformation syndrome
Name: Primary syringomyelia
OrphaCode: 99856
DisorderType: Morphological anomaly
Children: Name: Idiopathic syringomyelia
OrphaCode: 99858
DisorderType: Clinical subtype
Name: Familial syringomyelia
OrphaCode: 370034
DisorderType: Clinical subtype
Name: Primary tethered cord syndrome
OrphaCode: 268861
DisorderType: Morphological anomaly
Name: Neurenteric cyst
OrphaCode: 268865
DisorderType: Morphological anomaly
Name: Isolated amyelia
OrphaCode: 268868
DisorderType: Morphological anomaly
Name: Arnold-Chiari malformation type I
OrphaCode: 268882
DisorderType: Morphological anomaly
Name: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
OrphaCode: 397927
DisorderType: Malformation syndrome
Name: Cranial nerve and nuclear aplasia
OrphaCode: 98518
DisorderType: Category
Children: Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Duane retraction syndrome
OrphaCode: 233
DisorderType: Malformation syndrome
Name: Isolated hereditary congenital facial paralysis
OrphaCode: 306527
DisorderType: Morphological anomaly
Name: Congenital hereditary facial paralysis-variable hearing loss syndrome
OrphaCode: 306530
DisorderType: Morphological anomaly
Name: Congenital achiasma
OrphaCode: 324353
DisorderType: Morphological anomaly
Name: Posterior fossa malformation
OrphaCode: 98519
DisorderType: Category
Children: Name: Non-syndromic pontocerebellar hypoplasia
OrphaCode: 98523
DisorderType: Clinical group
Children: Name: Pontocerebellar hypoplasia type 2
OrphaCode: 2524
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 1
OrphaCode: 2254
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 3
OrphaCode: 97249
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 4
OrphaCode: 166063
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 6
OrphaCode: 166073
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 8
OrphaCode: 324569
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 9
OrphaCode: 369920
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 12
OrphaCode: 611256
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Cerebellar malformation
OrphaCode: 182061
DisorderType: Category
Children: Name: Rhombencephalosynapsis
OrphaCode: 59315
DisorderType: Malformation syndrome
Name: Malformation of the cerebellar vermis
OrphaCode: 98514
DisorderType: Category
Children: Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Isolated cerebellar vermis hypoplasia
OrphaCode: 199630
DisorderType: Morphological anomaly
Name: Isolated cerebellar vermis agenesis
OrphaCode: 269203
DisorderType: Morphological anomaly
Children: Name: Isolated total cerebellar vermis agenesis
OrphaCode: 269206
DisorderType: Clinical subtype
Name: Isolated partial cerebellar vermis agenesis
OrphaCode: 269209
DisorderType: Clinical subtype
Name: Malformation of the cerebellar hemispheres
OrphaCode: 98516
DisorderType: Category
Children: Name: Isolated unilateral hemispheric cerebellar hypoplasia
OrphaCode: 269218
DisorderType: Morphological anomaly
Name: Isolated bilateral hemispheric cerebellar hypoplasia
OrphaCode: 269221
DisorderType: Morphological anomaly
Name: Global cerebellar malformation
OrphaCode: 269224
DisorderType: Category
Children: Name: Hydrocephaly-cerebellar agenesis syndrome
OrphaCode: 1397
DisorderType: Malformation syndrome
Name: Isolated cerebellar agenesis
OrphaCode: 1398
DisorderType: Morphological anomaly
Name: Pontine tegmental cap dysplasia
OrphaCode: 269229
DisorderType: Morphological anomaly
Name: Isolated Dandy-Walker malformation
OrphaCode: 217
DisorderType: Morphological anomaly
Children: Name: Isolated Dandy-Walker malformation with hydrocephalus
OrphaCode: 269212
DisorderType: Clinical subtype
Name: Isolated Dandy-Walker malformation without hydrocephalus
OrphaCode: 269215
DisorderType: Clinical subtype
Name: Mega-cisterna magna
OrphaCode: 97252
DisorderType: Morphological anomaly
Name: Blake pouch cyst
OrphaCode: 98922
DisorderType: Morphological anomaly
Name: Non-syndromic cerebral malformation
OrphaCode: 199633
DisorderType: Category
Children: Name: Sporadic fetal brain disruption sequence
OrphaCode: 1665
DisorderType: Malformation syndrome
Name: Megalencephaly
OrphaCode: 2477
DisorderType: Malformation syndrome
Children: Name: Isolated megalencephaly
OrphaCode: 268920
DisorderType: Clinical subtype
Name: Hemimegalencephaly
OrphaCode: 99802
DisorderType: Malformation syndrome
Name: Non-syndromic cerebral malformation due to abnormal neuronal migration
OrphaCode: 163209
DisorderType: Category
Children: Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Subcortical band heterotopia
OrphaCode: 99796
DisorderType: Morphological anomaly
Name: Cerebral cortical dysplasia
OrphaCode: 268950
DisorderType: Clinical group
Children: Name: Isolated focal cortical dysplasia
OrphaCode: 65683
DisorderType: Disease
Children: Name: Isolated focal cortical dysplasia type I
OrphaCode: 268961
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type Ia
OrphaCode: 268973
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ib
OrphaCode: 268980
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ic
OrphaCode: 268987
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type II
OrphaCode: 268994
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type IIa
OrphaCode: 269001
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type IIb
OrphaCode: 269008
DisorderType: Histopathological subtype
Name: Occipital pachygyria and polymicrogyria
OrphaCode: 280640
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: Autosomal recessive frontotemporal pachygyria
OrphaCode: 329329
DisorderType: Malformation syndrome
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Isolated congenital microcephaly
OrphaCode: 199642
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Autosomal dominant primary microcephaly
OrphaCode: 2514
DisorderType: Etiological subtype
Name: Midline cerebral malformation
OrphaCode: 268926
DisorderType: Category
Children: Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Aprosencephaly cerebellar dysgenesis
OrphaCode: 1126
DisorderType: Malformation syndrome
Name: Duplication of the pituitary gland
OrphaCode: 314621
DisorderType: Morphological anomaly
Name: Microform holoprosencephaly
OrphaCode: 280200
DisorderType: Malformation syndrome
Name: Aprosencephaly/atelencephaly spectrum
OrphaCode: 566847
DisorderType: Morphological anomaly
Children: Name: Atelencephaly
OrphaCode: 566852
DisorderType: Clinical subtype
Name: Aprosencephaly
OrphaCode: 566857
DisorderType: Clinical subtype
Name: Isolated arhinencephaly
OrphaCode: 268936
DisorderType: Morphological anomaly
Name: Encephaloclastic disorder
OrphaCode: 269190
DisorderType: Clinical group
Children: Name: Schizencephaly
OrphaCode: 799
DisorderType: Disease
Children: Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: Acquired schizencephaly
OrphaCode: 485275
DisorderType: Etiological subtype
Name: Hydranencephaly
OrphaCode: 2177
DisorderType: Malformation syndrome
Name: Porencephaly
OrphaCode: 2940
DisorderType: Disease
Children: Name: Familial porencephaly
OrphaCode: 99810
DisorderType: Etiological subtype
Name: Acquired porencephaly
OrphaCode: 314697
DisorderType: Etiological subtype
Name: Diencephalic-mesencephalic junction dysplasia
OrphaCode: 319192
DisorderType: Morphological anomaly
Name: Isolated corpus callosum agenesis
OrphaCode: 200
DisorderType: Morphological anomaly
Name: Central nervous system cystic malformation
OrphaCode: 269194
DisorderType: Category
Children: Name: Arachnoid cyst
OrphaCode: 2356
DisorderType: Morphological anomaly
Name: Glioependymal/ependymal cyst
OrphaCode: 269197
DisorderType: Morphological anomaly
Name: Dermoid or epidermoid cyst of the central nervous system
OrphaCode: 530033
DisorderType: Morphological anomaly
Name: Syndrome with a central nervous system malformation as a major feature
OrphaCode: 108991
DisorderType: Category
Children: Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Syndrome with corpus callosum agenesis/dysgenesis as a major feature
OrphaCode: 199639
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
OrphaCode: 1495
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Temtamy syndrome
OrphaCode: 1777
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
OrphaCode: 3207
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
OrphaCode: 171703
DisorderType: Malformation syndrome
Name: L1 syndrome
OrphaCode: 275543
DisorderType: Malformation syndrome
Children: Name: Hydrocephalus with stenosis of the aqueduct of Sylvius
OrphaCode: 2182
DisorderType: Clinical subtype
Name: MASA syndrome
OrphaCode: 2466
DisorderType: Clinical subtype
Name: X-linked complicated corpus callosum dysgenesis
OrphaCode: 1497
DisorderType: Clinical subtype
Name: X-linked complicated spastic paraplegia type 1
OrphaCode: 306617
DisorderType: Clinical subtype
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphaCode: 83473
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphaCode: 459074
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
OrphaCode: 457284
DisorderType: Malformation syndrome
Name: Tubulinopathy-associated dysgyria
OrphaCode: 467166
DisorderType: Disease
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
OrphaCode: 500159
DisorderType: Malformation syndrome
Name: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
OrphaCode: 447893
DisorderType: Clinical subtype
Name: Syndrome with a cerebellar malformation as a major feature
OrphaCode: 269523
DisorderType: Category
Children: Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
OrphaCode: 397709
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Gómez-López-Hernández syndrome
OrphaCode: 1532
DisorderType: Malformation syndrome
Name: Cerebellar hypoplasia-tapetoretinal degeneration syndrome
OrphaCode: 2246
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Porencephaly-cerebellar hypoplasia-internal malformations syndrome
OrphaCode: 2941
DisorderType: Malformation syndrome
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: XK aprosencephaly syndrome
OrphaCode: 3469
DisorderType: Malformation syndrome
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
OrphaCode: 65288
DisorderType: Malformation syndrome
Name: Endosteal sclerosis-cerebellar hypoplasia syndrome
OrphaCode: 85186
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: X-linked cerebral-cerebellar-coloboma syndrome
OrphaCode: 163961
DisorderType: Disease
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Syndrome with a Dandy-Walker malformation as a major feature
OrphaCode: 269546
DisorderType: Category
Children: Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: 3C syndrome
OrphaCode: 7
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
OrphaCode: 1970
DisorderType: Malformation syndrome
Name: Cervical hypertrichosis-peripheral neuropathy syndrome
OrphaCode: 2218
DisorderType: Disease
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Macrocephaly-short stature-paraplegia syndrome
OrphaCode: 2427
DisorderType: Malformation syndrome
Name: Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
OrphaCode: 73245
DisorderType: Malformation syndrome
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
OrphaCode: 370022
DisorderType: Disease
Name: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
OrphaCode: 401959
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: Tubulinopathy-associated dysgyria
OrphaCode: 467166
DisorderType: Disease
Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
OrphaCode: 529665
DisorderType: Malformation syndrome
Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: Lethal brain and heart developmental defects
OrphaCode: 580933
DisorderType: Malformation syndrome
Name: EN1-related dorsoventral syndrome
OrphaCode: 611223
DisorderType: Malformation syndrome
Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
OrphaCode: 615954
DisorderType: Clinical syndrome
Children: Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
OrphaCode: 615983
DisorderType: Etiological subtype
Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
OrphaCode: 615986
DisorderType: Etiological subtype
Name: Syndrome with microcephaly as a major feature
OrphaCode: 269528
DisorderType: Category
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: PYCR2-related microcephaly-progressive leukoencephalopathy
OrphaCode: 481152
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Bowen-Conradi syndrome
OrphaCode: 1270
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: Microcephaly-cervical spine fusion anomalies syndrome
OrphaCode: 2522
DisorderType: Malformation syndrome
Name: Microcephaly-brain defect-spasticity-hypernatremia syndrome
OrphaCode: 2523
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Amish lethal microcephaly
OrphaCode: 99742
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Microcephaly-capillary malformation syndrome
OrphaCode: 294016
DisorderType: Malformation syndrome
Name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OrphaCode: 306558
DisorderType: Disease
Name: Jawad syndrome
OrphaCode: 313795
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism
OrphaCode: 324761
DisorderType: Clinical group
Children: Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Alazami syndrome
OrphaCode: 319671
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Dauber type
OrphaCode: 319675
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism due to ZNF335 deficiency
OrphaCode: 329228
DisorderType: Malformation syndrome
Name: Microcephalic cortical malformations-short stature due to RTTN deficiency
OrphaCode: 468631
DisorderType: Malformation syndrome
Name: DNMT3A-related microcephalic dwarfism
OrphaCode: 658595
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
OrphaCode: 329332
DisorderType: Malformation syndrome
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
OrphaCode: 402364
DisorderType: Malformation syndrome
Name: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
OrphaCode: 404437
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphaCode: 477814
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
OrphaCode: 662762
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Other syndrome with a central nervous system malformation as a major feature
OrphaCode: 269531
DisorderType: Category
Children: Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Lethal hydranencephaly-diaphragmatic hernia syndrome
OrphaCode: 480528
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Horizontal gaze palsy with progressive scoliosis
OrphaCode: 2744
DisorderType: Disease
Name: Spina bifida-hypospadias syndrome
OrphaCode: 3176
DisorderType: Malformation syndrome
Name: Oculocerebrocutaneous syndrome
OrphaCode: 1647
DisorderType: Malformation syndrome
Name: Caudal duplication
OrphaCode: 1756
DisorderType: Malformation syndrome
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: Hydrocephaly-low insertion umbilicus syndrome
OrphaCode: 2184
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: Holoprosencephaly-caudal dysgenesis syndrome
OrphaCode: 2165
DisorderType: Malformation syndrome
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Kousseff syndrome
OrphaCode: 2351
DisorderType: Malformation syndrome
Name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
OrphaCode: 2570
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: Schisis association
OrphaCode: 63862
DisorderType: Malformation syndrome
Name: Cerebrooculonasal syndrome
OrphaCode: 66625
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
OrphaCode: 171839
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: Fowler vasculopathy
OrphaCode: 221126
DisorderType: Malformation syndrome
Name: Progressive cerebello-cerebral atrophy
OrphaCode: 247198
DisorderType: Disease
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: Porencephaly-microcephaly-bilateral congenital cataract syndrome
OrphaCode: 306547
DisorderType: Malformation syndrome
Name: Cataract-congenital heart disease-neural tube defect syndrome
OrphaCode: 314993
DisorderType: Malformation syndrome
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: Ventriculomegaly-cystic kidney disease
OrphaCode: 443988
DisorderType: Disease
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
OrphaCode: 500150
DisorderType: Malformation syndrome
Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: PRUNE1-related neurological syndrome
OrphaCode: 544469
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664410
DisorderType: Malformation syndrome
Children: Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
OrphaCode: 664416
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
OrphaCode: 662189
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
OrphaCode: 662207
DisorderType: Malformation syndrome
Name: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
OrphaCode: 659609
DisorderType: Disease
Name: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
OrphaCode: 603448
DisorderType: Malformation syndrome
Name: Rare nervous system tumor
OrphaCode: 98062
DisorderType: Category
Children: Name: Primary central nervous system lymphoma
OrphaCode: 46135
DisorderType: Disease
Name: Craniopharyngioma
OrphaCode: 54595
DisorderType: Disease
Name: Rare tumor of neuroepithelial tissue
OrphaCode: 251558
DisorderType: Category
Children: Name: Glial tumor
OrphaCode: 182067
DisorderType: Clinical group
Children: Name: Ependymal tumor
OrphaCode: 301
DisorderType: Clinical group
Children: Name: RELA fusion-positive ependymoma
OrphaCode: 530792
DisorderType: Disease
Name: Anaplastic ependymoma
OrphaCode: 251646
DisorderType: Disease
Name: Ependymoma
OrphaCode: 251636
DisorderType: Disease
Name: Subependymoma
OrphaCode: 251639
DisorderType: Disease
Name: Myxopapillary ependymoma
OrphaCode: 251643
DisorderType: Disease
Name: Astrocytoma
OrphaCode: 94
DisorderType: Clinical group
Children: Name: High-grade astrocytoma
OrphaCode: 251561
DisorderType: Clinical group
Children: Name: Diffuse intrinsic pontine glioma
OrphaCode: 497188
DisorderType: Disease
Name: Glioblastoma
OrphaCode: 360
DisorderType: Disease
Children: Name: Gliosarcoma
OrphaCode: 251576
DisorderType: Histopathological subtype
Name: Giant cell glioblastoma
OrphaCode: 251579
DisorderType: Histopathological subtype
Name: Gliomatosis cerebri
OrphaCode: 251582
DisorderType: Disease
Name: Anaplastic astrocytoma
OrphaCode: 251589
DisorderType: Disease
Name: Low-grade astrocytoma
OrphaCode: 251592
DisorderType: Clinical group
Children: Name: Diffuse astrocytoma
OrphaCode: 251595
DisorderType: Disease
Children: Name: Protoplasmic astrocytoma
OrphaCode: 251598
DisorderType: Histopathological subtype
Name: Fibrillary astrocytoma
OrphaCode: 251601
DisorderType: Histopathological subtype
Name: Gemistocytic astrocytoma
OrphaCode: 251604
DisorderType: Histopathological subtype
Name: Pleomorphic xanthoastrocytoma
OrphaCode: 251607
DisorderType: Disease
Name: Pilocytic astrocytoma
OrphaCode: 251612
DisorderType: Disease
Children: Name: Pilocytic astrocytoma with histological features of anaplasia
OrphaCode: 673585
DisorderType: Clinical subtype
Name: Classic pilocytic astrocytoma
OrphaCode: 673580
DisorderType: Clinical subtype
Name: Pilomyxoid astrocytoma
OrphaCode: 251615
DisorderType: Histopathological subtype
Name: Subependymal giant cell astrocytoma
OrphaCode: 251618
DisorderType: Disease
Name: Pituicytoma
OrphaCode: 251623
DisorderType: Disease
Name: Oligodendroglial tumor
OrphaCode: 46484
DisorderType: Clinical group
Children: Name: Oligodendroglioma
OrphaCode: 251627
DisorderType: Disease
Name: Anaplastic oligodendroglioma
OrphaCode: 251630
DisorderType: Disease
Name: Oligoastrocytic tumor
OrphaCode: 251651
DisorderType: Clinical group
Children: Name: Oligoastrocytoma
OrphaCode: 251656
DisorderType: Disease
Name: Anaplastic oligoastrocytoma
OrphaCode: 251663
DisorderType: Disease
Name: Glial tumor of neuroepithelial tissue with unknown origin
OrphaCode: 251668
DisorderType: Clinical group
Children: Name: Angiocentric glioma
OrphaCode: 251671
DisorderType: Disease
Name: Chordoid glioma
OrphaCode: 251674
DisorderType: Disease
Name: Astroblastoma
OrphaCode: 251679
DisorderType: Disease
Name: Embryonal tumor of neuroepithelial tissue
OrphaCode: 251852
DisorderType: Category
Children: Name: Medulloblastoma
OrphaCode: 616
DisorderType: Disease
Children: Name: Anaplastic/large cell medulloblastoma
OrphaCode: 251855
DisorderType: Histopathological subtype
Name: Medulloblastoma with extensive nodularity
OrphaCode: 251858
DisorderType: Histopathological subtype
Name: Desmoplastic/nodular medulloblastoma
OrphaCode: 251863
DisorderType: Histopathological subtype
Name: Classic medulloblastoma
OrphaCode: 251867
DisorderType: Histopathological subtype
Name: Atypical teratoid rhabdoid tumor
OrphaCode: 99966
DisorderType: Disease
Name: Central nervous system embryonal tumor
OrphaCode: 251870
DisorderType: Clinical group
Children: Name: Neuroblastoma
OrphaCode: 635
DisorderType: Disease
Name: Esthesioneuroblastoma
OrphaCode: 1957
DisorderType: Disease
Name: Ganglioneuroblastoma
OrphaCode: 251877
DisorderType: Disease
Name: Embryonal tumor with multilayered rosettes
OrphaCode: 656417
DisorderType: Disease
Name: Choroid plexus tumor
OrphaCode: 251896
DisorderType: Clinical group
Children: Name: Papilloma of choroid plexus
OrphaCode: 2807
DisorderType: Disease
Name: Choroid plexus carcinoma
OrphaCode: 251899
DisorderType: Disease
Name: Atypical papilloma of choroid plexus
OrphaCode: 251902
DisorderType: Disease
Name: Pineal tumor of neuroepithelial tissue
OrphaCode: 251905
DisorderType: Clinical group
Children: Name: Pineoblastoma
OrphaCode: 251909
DisorderType: Disease
Name: Pineocytoma
OrphaCode: 251912
DisorderType: Disease
Name: Papillary tumor of the pineal region
OrphaCode: 251915
DisorderType: Disease
Name: Pineal parenchymal tumor of intermediate differentiation
OrphaCode: 251919
DisorderType: Disease
Name: Neuronal tumor
OrphaCode: 251924
DisorderType: Clinical group
Children: Name: Central neurocytoma
OrphaCode: 73256
DisorderType: Disease
Name: Extraventricular neurocytoma
OrphaCode: 251927
DisorderType: Disease
Name: Cerebellar liponeurocytoma
OrphaCode: 251931
DisorderType: Disease
Name: Mixed neuronal-glial tumor
OrphaCode: 251934
DisorderType: Clinical group
Children: Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Gangliocytoma
OrphaCode: 251937
DisorderType: Disease
Name: Desmoplastic infantile astrocytoma/ganglioglioma
OrphaCode: 251940
DisorderType: Disease
Name: Dysembryoplastic neuroepithelial tumor
OrphaCode: 251946
DisorderType: Disease
Name: Ganglioglioma
OrphaCode: 251949
DisorderType: Disease
Children: Name: Nasal ganglioglioma
OrphaCode: 141115
DisorderType: Disease
Name: Anaplastic ganglioglioma
OrphaCode: 251957
DisorderType: Disease
Name: Papillary glioneuronal tumor
OrphaCode: 251962
DisorderType: Disease
Name: Rosette-forming glioneuronal tumor
OrphaCode: 251975
DisorderType: Disease
Name: Ganglioneuroma
OrphaCode: 251992
DisorderType: Disease
Name: Primary germ cell tumor of central nervous system
OrphaCode: 251995
DisorderType: Category
Children: Name: Embryonal carcinoma of the central nervous system
OrphaCode: 48736
DisorderType: Clinical subtype
Name: Germinoma of the central nervous system
OrphaCode: 91352
DisorderType: Clinical subtype
Name: Yolk sac tumor of central nervous system
OrphaCode: 252006
DisorderType: Clinical subtype
Name: Choriocarcinoma of the central nervous system
OrphaCode: 252015
DisorderType: Disease
Name: Teratoma of the central nervous system
OrphaCode: 252018
DisorderType: Clinical subtype
Name: Mixed germ cell tumor of central nervous system
OrphaCode: 252021
DisorderType: Clinical subtype
Name: Tumor of meninges
OrphaCode: 252025
DisorderType: Category
Children: Name: Meningioma
OrphaCode: 2495
DisorderType: Disease
Name: Primary melanocytic tumor of central nervous system
OrphaCode: 252028
DisorderType: Category
Children: Name: Diffuse leptomeningeal melanocytosis
OrphaCode: 252031
DisorderType: Disease
Name: Meningeal melanocytoma
OrphaCode: 252046
DisorderType: Disease
Name: Primary melanoma of the central nervous system
OrphaCode: 252050
DisorderType: Disease
Name: Familial multiple meningioma
OrphaCode: 263662
DisorderType: Disease
Name: Hemangioblastoma
OrphaCode: 252054
DisorderType: Disease
Name: Tumor of cranial and spinal nerves
OrphaCode: 252057
DisorderType: Category
Children: Name: Optic pathway glioma
OrphaCode: 2086
DisorderType: Disease
Name: Malignant peripheral nerve sheath tumor
OrphaCode: 3148
DisorderType: Disease
Children: Name: Malignant triton tumor
OrphaCode: 252212
DisorderType: Histopathological subtype
Name: Malignant peripheral nerve sheath tumor with perineurial differentiation
OrphaCode: 252128
DisorderType: Histopathological subtype
Name: Perineurioma
OrphaCode: 85102
DisorderType: Clinical group
Children: Name: Extraneural perineurioma
OrphaCode: 100002
DisorderType: Disease
Children: Name: Reticular perineurioma
OrphaCode: 100000
DisorderType: Clinical subtype
Name: Sclerosing perineurioma
OrphaCode: 100001
DisorderType: Clinical subtype
Name: Intraneural perineurioma
OrphaCode: 100003
DisorderType: Disease
Name: Benign peripheral nerve sheath tumor
OrphaCode: 252131
DisorderType: Category
Children: Name: Benign schwannoma
OrphaCode: 252164
DisorderType: Disease
Children: Name: Vestibular schwannoma
OrphaCode: 252175
DisorderType: Clinical subtype
Name: Neurofibroma
OrphaCode: 252183
DisorderType: Disease
Name: Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
OrphaCode: 300501
DisorderType: Malformation syndrome
Name: Isolated melanotic schwannoma
OrphaCode: 590539
DisorderType: Disease
Name: Primary oculocerebral lymphoma
OrphaCode: 279897
DisorderType: Disease
Name: Rare peripheral neuropathy
OrphaCode: 98496
DisorderType: Category
Children: Name: Genetic peripheral neuropathy
OrphaCode: 98497
DisorderType: Category
Children: Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Giant axonal neuropathy
OrphaCode: 643
DisorderType: Disease
Name: Familial recurrent peripheral facial palsy
OrphaCode: 2809
DisorderType: Disease
Name: Infantile neuroaxonal dystrophy
OrphaCode: 35069
DisorderType: Disease
Name: Distal hereditary motor neuropathy
OrphaCode: 53739
DisorderType: Clinical group
Children: Name: Autosomal dominant distal hereditary motor neuropathy
OrphaCode: 140465
DisorderType: Category
Children: Name: Autosomal dominant congenital benign spinal muscular atrophy
OrphaCode: 1216
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 17
OrphaCode: 100998
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 1
OrphaCode: 139518
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 2
OrphaCode: 139525
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 5
OrphaCode: 139536
DisorderType: Disease
Name: Distal hereditary motor neuropathy type 7
OrphaCode: 139589
DisorderType: Disease
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
OrphaCode: 476093
DisorderType: Disease
Name: Autosomal recessive distal hereditary motor neuropathy
OrphaCode: 140468
DisorderType: Category
Children: Name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
OrphaCode: 496756
DisorderType: Disease
Name: Spinal muscular atrophy with respiratory distress type 1
OrphaCode: 98920
DisorderType: Disease
Name: Distal spinal muscular atrophy type 3
OrphaCode: 139547
DisorderType: Disease
Name: Distal hereditary motor neuropathy, Jerash type
OrphaCode: 139552
DisorderType: Disease
Name: Young adult-onset distal hereditary motor neuropathy
OrphaCode: 314485
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: X-linked distal hereditary motor neuropathy
OrphaCode: 404538
DisorderType: Category
Children: Name: Infantile-onset X-linked spinal muscular atrophy
OrphaCode: 1145
DisorderType: Disease
Name: X-linked distal spinal muscular atrophy type 3
OrphaCode: 139557
DisorderType: Disease
Name: Spinal muscular atrophy with respiratory distress type 2
OrphaCode: 404521
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 1
OrphaCode: 94124
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy
OrphaCode: 140471
DisorderType: Clinical group
Children: Name: X-linked hereditary sensory and autonomic neuropathy with deafness
OrphaCode: 139583
DisorderType: Disease
Name: Autosomal dominant hereditary sensory and autonomic neuropathy
OrphaCode: 140474
DisorderType: Category
Children: Name: Hereditary sensory and autonomic neuropathy type 1
OrphaCode: 36386
DisorderType: Disease
Name: Primary erythromelalgia
OrphaCode: 90026
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 1B
OrphaCode: 139564
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 7
OrphaCode: 391397
DisorderType: Disease
Name: PrP systemic amyloidosis
OrphaCode: 397606
DisorderType: Disease
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Congenital insensitivity to pain syndrome, Marsili type
OrphaCode: 653728
DisorderType: Disease
Name: Autosomal recessive hereditary sensory and autonomic neuropathy
OrphaCode: 140477
DisorderType: Category
Children: Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 4
OrphaCode: 642
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 2
OrphaCode: 970
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 5
OrphaCode: 64752
DisorderType: Disease
Name: Congenital insensitivity to pain-anosmia-neuropathic arthropathy
OrphaCode: 88642
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy with deafness and global delay
OrphaCode: 139573
DisorderType: Disease
Name: Mutilating hereditary sensory neuropathy with spastic paraplegia
OrphaCode: 139578
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 6
OrphaCode: 314381
DisorderType: Disease
Name: Cold-induced sweating syndrome-hyperthermia spectrum
OrphaCode: 401993
DisorderType: Clinical group
Children: Name: Crisponi syndrome
OrphaCode: 1545
DisorderType: Malformation syndrome
Name: Cold-induced sweating syndrome
OrphaCode: 157820
DisorderType: Disease
Name: KLHL7-related Crisponi/cold-induced sweating-like syndrome
OrphaCode: 603694
DisorderType: Disease
Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
OrphaCode: 320385
DisorderType: Disease
Name: Hereditary sensory and autonomic neuropathy type 8
OrphaCode: 478664
DisorderType: Disease
Name: Congenital insensitivity to pain syndrome, Marsili type
OrphaCode: 653728
DisorderType: Disease
Name: Congenital insensitivity to pain with severe intellectual disability
OrphaCode: 453510
DisorderType: Disease
Name: Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
OrphaCode: 217399
DisorderType: Disease
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Primary CD59 deficiency
OrphaCode: 169464
DisorderType: Disease
Name: Rare hereditary disease with peripheral neuropathy
OrphaCode: 207015
DisorderType: Category
Children: Name: Chédiak-Higashi syndrome
OrphaCode: 167
DisorderType: Disease
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OrphaCode: 171848
DisorderType: Disease
Name: Rare hereditary metabolic disease with peripheral neuropathy
OrphaCode: 207018
DisorderType: Category
Children: Name: Beta-mannosidosis
OrphaCode: 118
DisorderType: Disease
Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Metachromatic leukodystrophy
OrphaCode: 512
DisorderType: Disease
Children: Name: Metachromatic leukodystrophy, late infantile form
OrphaCode: 309256
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, juvenile form
OrphaCode: 309263
DisorderType: Clinical subtype
Name: Metachromatic leukodystrophy, adult form
OrphaCode: 309271
DisorderType: Clinical subtype
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
OrphaCode: 395
DisorderType: Disease
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Tay-Sachs disease
OrphaCode: 845
DisorderType: Disease
Children: Name: Tay-Sachs disease, infantile form
OrphaCode: 309178
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Tay-Sachs disease, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: Choreoacanthocytosis
OrphaCode: 2388
DisorderType: Disease
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Mitochondrial trifunctional protein deficiency
OrphaCode: 746
DisorderType: Disease
Name: Gyrate atrophy of choroid and retina
OrphaCode: 414
DisorderType: Disease
Name: Tyrosinemia type 1
OrphaCode: 882
DisorderType: Disease
Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Congenital bile acid synthesis defect type 4
OrphaCode: 79095
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Biotinidase deficiency
OrphaCode: 79241
DisorderType: Disease
Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Acute hepatic porphyria
OrphaCode: 95157
DisorderType: Clinical group
Children: Name: Hereditary coproporphyria
OrphaCode: 79273
DisorderType: Disease
Name: Acute intermittent porphyria
OrphaCode: 79276
DisorderType: Disease
Name: Variegate porphyria
OrphaCode: 79473
DisorderType: Disease
Name: Porphyria due to ALA dehydratase deficiency
OrphaCode: 100924
DisorderType: Disease
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Adult polyglucosan body disease
OrphaCode: 206583
DisorderType: Clinical subtype
Name: Mitochondrial disease with peripheral neuropathy
OrphaCode: 225703
DisorderType: Category
Children: Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Pyruvate dehydrogenase deficiency
OrphaCode: 765
DisorderType: Disease
Children: Name: Pyruvate dehydrogenase E3 deficiency
OrphaCode: 2394
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-alpha deficiency
OrphaCode: 79243
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E2 deficiency
OrphaCode: 79244
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase phosphatase deficiency
OrphaCode: 79246
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E1-beta deficiency
OrphaCode: 255138
DisorderType: Clinical subtype
Name: Pyruvate dehydrogenase E3-binding protein deficiency
OrphaCode: 255182
DisorderType: Clinical subtype
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
Name: Oxoglutaric aciduria
OrphaCode: 31
DisorderType: Disease
Name: Alpers-Huttenlocher syndrome
OrphaCode: 726
DisorderType: Disease
Name: Fumaric aciduria
OrphaCode: 24
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Coenzyme Q10 deficiency
OrphaCode: 35656
DisorderType: Clinical group
Children: Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Autosomal recessive ataxia due to ubiquinone deficiency
OrphaCode: 139485
DisorderType: Disease
Name: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
OrphaCode: 254898
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
OrphaCode: 319678
DisorderType: Disease
Name: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
OrphaCode: 457185
DisorderType: Disease
Name: COQ7-related distal hereditary motor neuropathy
OrphaCode: 658778
DisorderType: Disease
Name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
OrphaCode: 70595
DisorderType: Disease
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
OrphaCode: 436271
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: Parkinsonism with polyneuropathy
OrphaCode: 611237
DisorderType: Disease
Name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
OrphaCode: 496790
DisorderType: Disease
Name: Encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 527276
DisorderType: Disease
Children: Name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 330050
DisorderType: Etiological subtype
Name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
OrphaCode: 485421
DisorderType: Etiological subtype
Name: Rare hereditary systemic disease with peripheral neuropathy
OrphaCode: 207021
DisorderType: Category
Children: Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: ATTRV30M amyloidosis
OrphaCode: 85447
DisorderType: Clinical subtype
Name: AGel amyloidosis
OrphaCode: 85448
DisorderType: Disease
Name: EMILIN-1-related connective tissue disease
OrphaCode: 485418
DisorderType: Disease
Name: Rare hereditary neurologic disease with peripheral neuropathy
OrphaCode: 207025
DisorderType: Category
Children: Name: Cerebellar ataxia with peripheral neuropathy
OrphaCode: 207028
DisorderType: Category
Children: Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
OrphaCode: 504476
DisorderType: Disease
Name: Spinocerebellar ataxia type 46
OrphaCode: 589522
DisorderType: Disease
Name: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
OrphaCode: 610573
DisorderType: Disease
Name: Behr syndrome
OrphaCode: 1239
DisorderType: Malformation syndrome
Name: Attenuated Chédiak-Higashi syndrome
OrphaCode: 352723
DisorderType: Disease
Name: Congenital trigeminal anesthesia
OrphaCode: 231013
DisorderType: Disease
Name: Hereditary sodium channelopathy-related small fibers neuropathy
OrphaCode: 306577
DisorderType: Disease
Name: Familial episodic pain syndrome
OrphaCode: 391384
DisorderType: Disease
Children: Name: Familial episodic pain syndrome with predominantly upper body involvement
OrphaCode: 391389
DisorderType: Clinical subtype
Name: Familial episodic pain syndrome with predominantly lower limb involvement
OrphaCode: 391392
DisorderType: Clinical subtype
Name: Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
OrphaCode: 166
DisorderType: Category
Children: Name: X-linked Charcot-Marie-Tooth disease
OrphaCode: 64747
DisorderType: Clinical group
Children: Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 1
OrphaCode: 101075
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 2
OrphaCode: 101076
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 3
OrphaCode: 101077
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 4
OrphaCode: 101078
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 6
OrphaCode: 352675
DisorderType: Disease
Name: Digital extensor muscle aplasia-polyneuropathy
OrphaCode: 2926
DisorderType: Malformation syndrome
Name: Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
OrphaCode: 431320
DisorderType: Clinical group
Children: Name: Spastic paraplegia-optic atrophy-neuropathy syndrome
OrphaCode: 320406
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 57
OrphaCode: 431329
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 74
OrphaCode: 468661
DisorderType: Disease
Name: Autosomal recessive spastic paraplegia type 55
OrphaCode: 320375
DisorderType: Disease
Name: Axonal hereditary motor and sensory neuropathy
OrphaCode: 476109
DisorderType: Clinical group
Children: Name: Autosomal recessive axonal hereditary motor and sensory neuropathy
OrphaCode: 91024
DisorderType: Clinical group
Children: Name: Autosomal recessive Charcot-Marie-Tooth disease type 2X
OrphaCode: 466775
DisorderType: Disease
Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
OrphaCode: 466794
DisorderType: Disease
Name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
OrphaCode: 101097
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2B2
OrphaCode: 101101
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2H
OrphaCode: 101102
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2B5
OrphaCode: 228374
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2P
OrphaCode: 300319
DisorderType: Disease
Name: Autosomal recessive axonal neuropathy with neuromyotonia
OrphaCode: 324442
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2R
OrphaCode: 397968
DisorderType: Disease
Name: Microcephaly-complex motor and sensory axonal neuropathy syndrome
OrphaCode: 423894
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2S
OrphaCode: 443073
DisorderType: Disease
Name: DNAJB2-related Charcot-Marie-Tooth disease type 2
OrphaCode: 443950
DisorderType: Disease
Name: Severe early-onset axonal neuropathy due to MFN2 deficiency
OrphaCode: 90118
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy with acrodystrophy
OrphaCode: 90119
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2B1
OrphaCode: 98856
DisorderType: Disease
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy type 6
OrphaCode: 90120
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2T
OrphaCode: 495274
DisorderType: Disease
Name: Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
OrphaCode: 538096
DisorderType: Disease
Name: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
OrphaCode: 521411
DisorderType: Disease
Name: Congenital axonal neuropathy with encephalopathy
OrphaCode: 538101
DisorderType: Disease
Name: Autosomal dominant hereditary axonal motor and sensory neuropathy
OrphaCode: 140456
DisorderType: Category
Children: Name: Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
OrphaCode: 538574
DisorderType: Disease
Name: Autosomal dominant optic atrophy plus syndrome
OrphaCode: 1215
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2
OrphaCode: 64746
DisorderType: Clinical group
Children: Name: Autosomal dominant Charcot-Marie-Tooth disease type 2B
OrphaCode: 99936
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2C
OrphaCode: 99937
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2D
OrphaCode: 99938
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2E
OrphaCode: 99939
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2F
OrphaCode: 99940
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2G
OrphaCode: 99941
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2I
OrphaCode: 99942
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2J
OrphaCode: 99943
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2K
OrphaCode: 99944
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2L
OrphaCode: 99945
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2A1
OrphaCode: 99946
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
OrphaCode: 99947
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2N
OrphaCode: 228174
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2M
OrphaCode: 228179
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2O
OrphaCode: 284232
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 2P
OrphaCode: 300319
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
OrphaCode: 324611
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Q
OrphaCode: 329258
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2U
OrphaCode: 397735
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
OrphaCode: 401964
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Y
OrphaCode: 435387
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
OrphaCode: 435819
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2V
OrphaCode: 447964
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
OrphaCode: 466768
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
OrphaCode: 487814
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2W
OrphaCode: 488333
DisorderType: Disease
Name: MME-related autosomal dominant Charcot Marie Tooth disease type 2
OrphaCode: 497757
DisorderType: Disease
Name: Autosomal dominant Charcot-Marie-Tooth disease type 2DD
OrphaCode: 521414
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy type 5
OrphaCode: 64751
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy, Okinawa type
OrphaCode: 90117
DisorderType: Disease
Name: Hereditary motor and sensory neuropathy type 6
OrphaCode: 90120
DisorderType: Disease
Name: Demyelinating hereditary motor and sensory neuropathy
OrphaCode: 476116
DisorderType: Clinical group
Children: Name: Autosomal dominant hereditary demyelinating motor and sensory neuropathy
OrphaCode: 140453
DisorderType: Category
Children: Name: Hereditary neuropathy with liability to pressure palsies
OrphaCode: 640
DisorderType: Malformation syndrome
Name: Roussy-Lévy syndrome
OrphaCode: 3115
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1
OrphaCode: 65753
DisorderType: Clinical group
Children: Name: Charcot-Marie-Tooth disease type 1E
OrphaCode: 90658
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1A
OrphaCode: 101081
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1B
OrphaCode: 101082
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1C
OrphaCode: 101083
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1D
OrphaCode: 101084
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1F
OrphaCode: 101085
DisorderType: Disease
Name: Hereditary thermosensitive neuropathy
OrphaCode: 84093
DisorderType: Disease
Name: Neuropathy with hearing impairment
OrphaCode: 139512
DisorderType: Disease
Name: Autosomal dominant slowed nerve conduction velocity
OrphaCode: 140481
DisorderType: Disease
Name: Mitchell Syndrome
OrphaCode: 631248
DisorderType: Disease
Name: PMP2-related Charcot-Marie-Tooth disease type 1
OrphaCode: 476394
DisorderType: Disease
Name: Hereditary sensorimotor neuropathy with hyperelastic skin
OrphaCode: 280598
DisorderType: Disease
Name: Dejerine-Sottas syndrome
OrphaCode: 64748
DisorderType: Disease
Name: PMP22-RAI1 contiguous gene duplication syndrome
OrphaCode: 477817
DisorderType: Malformation syndrome
Name: Autosomal recessive hereditary demyelinating motor and sensory neuropathy
OrphaCode: 140459
DisorderType: Category
Children: Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease type 4
OrphaCode: 64749
DisorderType: Clinical group
Children: Name: Charcot-Marie-Tooth disease type 4A
OrphaCode: 99948
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4C
OrphaCode: 99949
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4D
OrphaCode: 99950
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4E
OrphaCode: 99951
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4F
OrphaCode: 99952
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4G
OrphaCode: 99953
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4H
OrphaCode: 99954
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4B1
OrphaCode: 99955
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4B2
OrphaCode: 99956
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4J
OrphaCode: 139515
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 4B3
OrphaCode: 363981
DisorderType: Disease
Name: SURF1-related Charcot-Marie-Tooth disease type 4
OrphaCode: 391351
DisorderType: Disease
Name: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
OrphaCode: 90103
DisorderType: Malformation syndrome
Name: Dejerine-Sottas syndrome
OrphaCode: 64748
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Intermediate Charcot-Marie-Tooth disease
OrphaCode: 476123
DisorderType: Clinical group
Children: Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease
OrphaCode: 90114
DisorderType: Clinical group
Children: Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
OrphaCode: 93114
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
OrphaCode: 100043
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
OrphaCode: 100044
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
OrphaCode: 100045
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
OrphaCode: 100046
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
OrphaCode: 324585
DisorderType: Disease
Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
OrphaCode: 352670
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease
OrphaCode: 268337
DisorderType: Clinical group
Children: Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
OrphaCode: 217055
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
OrphaCode: 254334
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
OrphaCode: 369867
DisorderType: Disease
Name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
OrphaCode: 435998
DisorderType: Disease
Name: Acquired peripheral neuropathy
OrphaCode: 182086
DisorderType: Category
Children: Name: Neuralgic amyotrophy
OrphaCode: 2901
DisorderType: Disease
Name: Pudendal nerve entrapment syndrome
OrphaCode: 60039
DisorderType: Disease
Name: Infectious disease with peripheral neuropathy
OrphaCode: 206613
DisorderType: Category
Children: Name: Ramsay Hunt syndrome
OrphaCode: 3020
DisorderType: Disease
Name: Leprosy
OrphaCode: 548
DisorderType: Disease
Name: Lyme disease
OrphaCode: 91546
DisorderType: Disease
Name: Acute and subacute inflammatory demyelinating polyneuropathy
OrphaCode: 207038
DisorderType: Category
Children: Name: Guillain-Barré syndrome
OrphaCode: 2103
DisorderType: Clinical group
Children: Name: Acute inflammatory demyelinating polyradiculoneuropathy
OrphaCode: 98916
DisorderType: Disease
Name: Acute motor and sensory axonal neuropathy
OrphaCode: 98917
DisorderType: Disease
Name: Acute motor axonal neuropathy
OrphaCode: 98918
DisorderType: Disease
Name: Variant of Guillain-Barré syndrome
OrphaCode: 231413
DisorderType: Category
Children: Name: Regional variant of Guillain-Barré syndrome
OrphaCode: 231416
DisorderType: Clinical group
Children: Name: Bickerstaff brainstem encephalitis
OrphaCode: 79138
DisorderType: Disease
Name: Miller Fisher syndrome
OrphaCode: 98919
DisorderType: Disease
Name: Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
OrphaCode: 231426
DisorderType: Disease
Name: Facial diplegia with paresthesias
OrphaCode: 480701
DisorderType: Disease
Name: Functional variant of Guillain-Barré syndrome
OrphaCode: 231419
DisorderType: Clinical group
Children: Name: Paraparetic variant of Guillain-Barré syndrome
OrphaCode: 231445
DisorderType: Disease
Name: Acute pure sensory neuropathy
OrphaCode: 231450
DisorderType: Disease
Name: Acute pandysautonomia
OrphaCode: 231457
DisorderType: Disease
Name: Acute sensory ataxic neuropathy
OrphaCode: 231466
DisorderType: Disease
Name: Subacute inflammatory demyelinating polyneuropathy
OrphaCode: 206594
DisorderType: Disease
Name: Chronic acquired demyelinating polyneuropathy
OrphaCode: 208974
DisorderType: Clinical group
Children: Name: POEMS syndrome
OrphaCode: 2905
DisorderType: Disease
Name: Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
OrphaCode: 639
DisorderType: Disease
Name: Multifocal motor neuropathy
OrphaCode: 641
DisorderType: Disease
Name: CANOMAD syndrome
OrphaCode: 71279
DisorderType: Disease
Name: Chronic polyradiculoneuropathy
OrphaCode: 208978
DisorderType: Clinical group
Children: Name: Chronic inflammatory demyelinating polyneuropathy
OrphaCode: 2932
DisorderType: Disease
Children: Name: Lewis-Sumner syndrome
OrphaCode: 48162
DisorderType: Clinical subtype
Name: Acquired sensory ganglionopathy
OrphaCode: 208984
DisorderType: Category
Children: Name: Non-paraneoplastic sensory ganglionopathy
OrphaCode: 208989
DisorderType: Disease
Name: Paraneoplastic sensory ganglionopathy
OrphaCode: 208999
DisorderType: Disease
Name: Systemic inflammatory disease associated with an acquired peripheral neuropathy
OrphaCode: 209007
DisorderType: Category
Children: Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: Eosinophilic granulomatosis with polyangiitis
OrphaCode: 183
DisorderType: Disease
Name: Microscopic polyangiitis
OrphaCode: 727
DisorderType: Disease
Name: Granulomatosis with polyangiitis
OrphaCode: 900
DisorderType: Disease
Name: Polyarteritis nodosa
OrphaCode: 767
DisorderType: Disease
Children: Name: Primary polyarteritis nodosa
OrphaCode: 439737
DisorderType: Clinical subtype
Children: Name: Cutaneous polyarteritis nodosa
OrphaCode: 439729
DisorderType: Clinical subtype
Name: Single-organ polyarteritis nodosa
OrphaCode: 439755
DisorderType: Clinical subtype
Name: Systemic polyarteritis nodosa
OrphaCode: 439762
DisorderType: Clinical subtype
Name: Secondary polyarteritis nodosa
OrphaCode: 439746
DisorderType: Clinical subtype
Name: Mixed connective tissue disease
OrphaCode: 809
DisorderType: Disease
Name: Cryoglobulinemic vasculitis
OrphaCode: 91138
DisorderType: Disease
Children: Name: Mixed cryoglobulinemia type II
OrphaCode: 93554
DisorderType: Etiological subtype
Name: Mixed cryoglobulinemia type III
OrphaCode: 93555
DisorderType: Etiological subtype
Name: Peripheral neuropathy associated with monoclonal gammopathy
OrphaCode: 209010
DisorderType: Category
Children: Name: POEMS syndrome
OrphaCode: 2905
DisorderType: Disease
Name: Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
OrphaCode: 639
DisorderType: Disease
Name: CANOMAD syndrome
OrphaCode: 71279
DisorderType: Disease
Name: Simple cryoglobulinemia
OrphaCode: 91139
DisorderType: Disease
Name: Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
OrphaCode: 209004
DisorderType: Disease
Name: Acquired amyloid peripheral neuropathy
OrphaCode: 209013
DisorderType: Category
Children: Name: AL amyloidosis
OrphaCode: 85443
DisorderType: Disease
Children: Name: Primary systemic amyloidosis
OrphaCode: 314701
DisorderType: Clinical subtype
Name: Primary localized amyloidosis
OrphaCode: 314709
DisorderType: Clinical subtype
Name: AA amyloidosis
OrphaCode: 85445
DisorderType: Disease
Name: Hematological disease associated with an acquired peripheral neuropathy
OrphaCode: 209016
DisorderType: Category
Children: Name: POEMS syndrome
OrphaCode: 2905
DisorderType: Disease
Name: Multiple myeloma
OrphaCode: 29073
DisorderType: Disease
Name: Plasmacytoma
OrphaCode: 86855
DisorderType: Disease
Children: Name: Primary plasmacytoma of the bone
OrphaCode: 100021
DisorderType: Clinical subtype
Name: Extramedullary soft tissue plasmacytoma
OrphaCode: 100022
DisorderType: Clinical subtype
Name: Malignant lymphoma with peripheral neuropathy
OrphaCode: 207046
DisorderType: Category
Children: Name: Waldenström macroglobulinemia
OrphaCode: 33226
DisorderType: Disease
Name: Neurolymphomatosis
OrphaCode: 206586
DisorderType: Disease
Name: Solid tumor associated with an acquired peripheral neuropathy
OrphaCode: 209019
DisorderType: Category
Name: Cranial neuralgia
OrphaCode: 221109
DisorderType: Clinical group
Children: Name: Combined hyperactive dysfunction syndrome of the cranial nerves
OrphaCode: 221078
DisorderType: Disease
Name: Trigeminal neuralgia
OrphaCode: 221091
DisorderType: Disease
Name: Glossopharyngeal neuralgia
OrphaCode: 221098
DisorderType: Disease
Name: Trigeminal trophic syndrome
OrphaCode: 664901
DisorderType: Disease
Name: Acquired peripheral movement disorder
OrphaCode: 221114
DisorderType: Category
Children: Name: Morvan syndrome
OrphaCode: 83467
DisorderType: Disease
Name: Isaacs syndrome
OrphaCode: 84142
DisorderType: Disease
Name: Non-recovering obstetric brachial plexus lesion
OrphaCode: 439202
DisorderType: Disease
Name: Radiation-induced plexopathy
OrphaCode: 521123
DisorderType: Disease
Name: Idiopathic small fibers neuropathy
OrphaCode: 658549
DisorderType: Disease
Name: Frey syndrome
OrphaCode: 662240
DisorderType: Clinical syndrome
Name: Neurogenic thoracic outlet syndrome
OrphaCode: 100073
DisorderType: Clinical subtype
Name: Congenital laryngeal palsy
OrphaCode: 137932
DisorderType: Malformation syndrome
Name: Anterior cutaneous nerve entrapment syndrome
OrphaCode: 51890
DisorderType: Disease
Name: Foix-Chavany-Marie syndrome
OrphaCode: 2048
DisorderType: Malformation syndrome
Name: Locked-in syndrome
OrphaCode: 2406
DisorderType: Clinical syndrome
Name: Symmetrical thalamic calcifications
OrphaCode: 1314
DisorderType: Disease
Name: Flynn-Aird syndrome
OrphaCode: 2047
DisorderType: Disease
Name: Rare disease with malignant hyperthermia
OrphaCode: 466658
DisorderType: Category
Children: Name: Multiminicore myopathy
OrphaCode: 598
DisorderType: Disease
Children: Name: Congenital multicore myopathy with external ophthalmoplegia
OrphaCode: 98905
DisorderType: Clinical subtype
Name: Moderate multiminicore disease with hand involvement
OrphaCode: 178145
DisorderType: Clinical subtype
Name: Antenatal multiminicore disease with arthrogryposis multiplex congenita
OrphaCode: 178148
DisorderType: Clinical subtype
Name: Classic multiminicore myopathy
OrphaCode: 324604
DisorderType: Clinical subtype
Name: Neuroleptic malignant syndrome
OrphaCode: 94093
DisorderType: Disease
Name: Serotonin syndrome
OrphaCode: 43116
DisorderType: Disease
Name: Malignant hyperthermia of anesthesia
OrphaCode: 423
DisorderType: Disease
Name: Exercise-induced malignant hyperthermia
OrphaCode: 466650
DisorderType: Disease
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Multiple pterygium-malignant hyperthermia syndrome
OrphaCode: 2215
DisorderType: Malformation syndrome
Name: Native American myopathy
OrphaCode: 168572
DisorderType: Malformation syndrome
Name: Primary orthostatic disorder
OrphaCode: 521236
DisorderType: Category
Children: Name: Primary orthostatic hypotension
OrphaCode: 182058
DisorderType: Clinical group
Children: Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Young-onset Parkinson disease
OrphaCode: 2828
DisorderType: Disease
Name: Peripheral motor neuropathy-dysautonomia syndrome
OrphaCode: 2400
DisorderType: Disease
Name: Pure autonomic failure
OrphaCode: 441
DisorderType: Disease
Name: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Multiple system atrophy
OrphaCode: 102
DisorderType: Disease
Children: Name: Multiple system atrophy, parkinsonian type
OrphaCode: 98933
DisorderType: Clinical subtype
Name: Multiple system atrophy, cerebellar type
OrphaCode: 227510
DisorderType: Clinical subtype
Name: Hereditary late-onset Parkinson disease
OrphaCode: 411602
DisorderType: Disease
Name: Postural orthostatic tachycardia syndrome due to NET deficiency
OrphaCode: 443236
DisorderType: Disease