Orphanet classification: Rare ophthalmic disorder (ORPHA:97966)
Disorder type: Category
Subcategories and diseases:
Name: Rare eye tumor
OrphaCode: 101950
DisorderType: Category
Children: Name: Eyelid sebaceous carcinoma
OrphaCode: 658590
DisorderType: Disease
Name: Ocular surface squamous neoplasia
OrphaCode: 659744
DisorderType: Disease
Name: Choroidal osteoma
OrphaCode: 674965
DisorderType: Disease
Name: Retinoblastoma
OrphaCode: 790
DisorderType: Disease
Children: Name: Hereditary retinoblastoma
OrphaCode: 357027
DisorderType: Clinical subtype
Name: Non-hereditary retinoblastoma
OrphaCode: 357034
DisorderType: Clinical subtype
Name: Uveal melanoma
OrphaCode: 39044
DisorderType: Disease
Name: Orbital leiomyoma
OrphaCode: 52994
DisorderType: Disease
Name: Ring dermoid of cornea
OrphaCode: 91481
DisorderType: Disease
Name: Intraocular medulloepithelioma
OrphaCode: 268139
DisorderType: Disease
Name: Primary oculocerebral lymphoma
OrphaCode: 279897
DisorderType: Disease
Name: Primary intraocular lymphoma
OrphaCode: 279904
DisorderType: Disease
Name: Combined hamartoma of the retina and retinal pigment epithelium
OrphaCode: 440727
DisorderType: Disease
Name: Conjunctival malignant melanoma
OrphaCode: 617910
DisorderType: Disease
Name: Vasoproliferative tumor of the retina
OrphaCode: 353356
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: Color-vision disease
OrphaCode: 98658
DisorderType: Category
Children: Name: Blue cone monochromatism
OrphaCode: 16
DisorderType: Disease
Name: Achromatopsia
OrphaCode: 49382
DisorderType: Disease
Name: Tritanopia
OrphaCode: 88629
DisorderType: Disease
Name: Rare refraction anomaly
OrphaCode: 98618
DisorderType: Category
Children: Name: Rare isolated myopia
OrphaCode: 98619
DisorderType: Disease
Name: Rare hyperopia and astigmatism
OrphaCode: 98621
DisorderType: Category
Children: Name: Congenital cornea plana
OrphaCode: 53691
DisorderType: Morphological anomaly
Name: Syndromic hyperopia
OrphaCode: 98622
DisorderType: Category
Children: Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Rare disorder of the visual organs
OrphaCode: 520814
DisorderType: Category
Children: Name: Neuro-ophthalmological disease
OrphaCode: 140653
DisorderType: Category
Children: Name: Rare ophthalmic disorder with cranial nerve involvement
OrphaCode: 519349
DisorderType: Category
Children: Name: Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
OrphaCode: 397618
DisorderType: Disease
Name: Congenital trigeminal anesthesia
OrphaCode: 231013
DisorderType: Disease
Name: Congenital abducens nerve palsy
OrphaCode: 440233
DisorderType: Disease
Name: Rare trochlear nerve disorder
OrphaCode: 519353
DisorderType: Category
Children: Name: Familial congenital palsy of trochlear nerve
OrphaCode: 91498
DisorderType: Disease
Name: Congenital trochlear nerve palsy
OrphaCode: 98686
DisorderType: Disease
Name: Rare optic nerve disorder
OrphaCode: 519351
DisorderType: Category
Children: Name: Disorder with optic nerve compression
OrphaCode: 519337
DisorderType: Category
Children: Name: Albers-Schönberg osteopetrosis
OrphaCode: 53
DisorderType: Malformation syndrome
Name: Autosomal recessive malignant osteopetrosis
OrphaCode: 667
DisorderType: Malformation syndrome
Name: Extensive peripapillary myelinated nerve fibers
OrphaCode: 440724
DisorderType: Disease
Name: Syndromic optic nerve hypoplasia
OrphaCode: 137905
DisorderType: Category
Children: Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Congenital optic disc excavation
OrphaCode: 519333
DisorderType: Category
Children: Name: Morning glory disc anomaly
OrphaCode: 35737
DisorderType: Morphological anomaly
Name: Coloboma of optic disc
OrphaCode: 98947
DisorderType: Morphological anomaly
Name: Peripapillary staphyloma
OrphaCode: 519400
DisorderType: Morphological anomaly
Name: Isolated megalopapilla
OrphaCode: 519402
DisorderType: Morphological anomaly
Name: Optic disc pit
OrphaCode: 519404
DisorderType: Morphological anomaly
Name: Familial cavitary optic disc anomaly
OrphaCode: 464760
DisorderType: Morphological anomaly
Name: Rare disorder with optic disc malformation
OrphaCode: 519345
DisorderType: Category
Children: Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
OrphaCode: 435930
DisorderType: Disease
Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Autoimmune/inflammatory optic neuropathy
OrphaCode: 499047
DisorderType: Clinical group
Children: 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: Recurrent idiopathic neuroretinitis
OrphaCode: 499103
DisorderType: Disease
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: Idiopathic optic perineuritis
OrphaCode: 499107
DisorderType: Disease
Name: Pseudopapilledema
OrphaCode: 519339
DisorderType: Category
Children: Name: Acrootoocular syndrome
OrphaCode: 2980
DisorderType: Malformation syndrome
Name: Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
OrphaCode: 313800
DisorderType: Disease
Name: Isolated optic nerve aplasia
OrphaCode: 637064
DisorderType: Morphological anomaly
Name: Isolated optic nerve hypoplasia
OrphaCode: 637061
DisorderType: Morphological anomaly
Name: Hereditary optic neuropathy
OrphaCode: 98671
DisorderType: Category
Children: Name: Leber hereditary optic neuropathy
OrphaCode: 104
DisorderType: Disease
Name: Autosomal dominant optic atrophy
OrphaCode: 98672
DisorderType: Clinical group
Children: Name: Autosomal dominant optic atrophy plus syndrome
OrphaCode: 1215
DisorderType: Disease
Name: Autosomal dominant optic atrophy and cataract
OrphaCode: 67036
DisorderType: Disease
Name: Autosomal dominant optic atrophy, classic form
OrphaCode: 98673
DisorderType: Disease
Name: Autosomal dominant optic atrophy and peripheral neuropathy
OrphaCode: 250932
DisorderType: Disease
Name: Autosomal recessive isolated optic atrophy
OrphaCode: 98676
DisorderType: Disease
Name: Leber plus disease
OrphaCode: 99718
DisorderType: Disease
Name: Syndromic hereditary optic neuropathy
OrphaCode: 441434
DisorderType: Category
Children: Name: MERRF
OrphaCode: 551
DisorderType: Disease
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: PLAA-associated neurodevelopmental disorder
OrphaCode: 521426
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 3
OrphaCode: 97249
DisorderType: Malformation syndrome
Name: X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
OrphaCode: 482606
DisorderType: Malformation syndrome
Name: Multiple mitochondrial dysfunctions syndrome type 4
OrphaCode: 457406
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: Wolfram syndrome
OrphaCode: 3463
DisorderType: Disease
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Severe X-linked intellectual disability, Gustavson type
OrphaCode: 3078
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 3
OrphaCode: 67047
DisorderType: Disease
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Early-onset X-linked optic atrophy
OrphaCode: 98890
DisorderType: Disease
Name: Spastic paraplegia type 7
OrphaCode: 99013
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: Spastic paraplegia type 2
OrphaCode: 99015
DisorderType: Disease
Name: Mitochondrial membrane protein-associated neurodegeneration
OrphaCode: 289560
DisorderType: Disease
Name: Fatty acid hydroxylase-associated neurodegeneration
OrphaCode: 329308
DisorderType: Disease
Name: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
OrphaCode: 352654
DisorderType: Disease
Name: Short stature-optic atrophy-Pelger-Huët anomaly syndrome
OrphaCode: 391677
DisorderType: Malformation syndrome
Name: Optic atrophy-intellectual disability syndrome
OrphaCode: 401777
DisorderType: Disease
Name: Wolfram-like syndrome
OrphaCode: 411590
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: Tremor-ataxia-central hypomyelination syndrome
OrphaCode: 447896
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: 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: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: MEPAN syndrome
OrphaCode: 508093
DisorderType: Malformation syndrome
Name: C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
OrphaCode: 495844
DisorderType: Disease
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
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: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Autosomal recessive optic atrophy, OPA7 type
OrphaCode: 227976
DisorderType: Disease
Name: Auditory neuropathy-optic atrophy syndrome
OrphaCode: 542585
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
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: Tolosa-Hunt syndrome
OrphaCode: 64686
DisorderType: Disease
Name: Rare oculomotor nerve disorder
OrphaCode: 98685
DisorderType: Category
Children: Name: Congenital oculomotor nerve palsy
OrphaCode: 440221
DisorderType: Disease
Name: Rare ocular motility/alignment disorder
OrphaCode: 519355
DisorderType: Category
Children: Name: Rare neuromuscular disorder with ocular motility/alignment anomaly
OrphaCode: 519347
DisorderType: Category
Children: Name: Progressive external ophthalmoplegia
OrphaCode: 520820
DisorderType: Category
Children: 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: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
OrphaCode: 363677
DisorderType: Disease
Name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
OrphaCode: 352447
DisorderType: Disease
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: Oculopharyngeal muscular dystrophy
OrphaCode: 270
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Juvenile Huntington disease
OrphaCode: 248111
DisorderType: Disease
Name: Huntington disease
OrphaCode: 399
DisorderType: Disease
Name: Duchenne muscular dystrophy
OrphaCode: 98896
DisorderType: Disease
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: 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: Botulism
OrphaCode: 1267
DisorderType: Disease
Children: Name: Inhalational botulism
OrphaCode: 254504
DisorderType: Clinical subtype
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: Adult intestinal botulism
OrphaCode: 178487
DisorderType: Clinical subtype
Name: Infant botulism
OrphaCode: 178478
DisorderType: Clinical subtype
Name: Iatrogenic botulism
OrphaCode: 254509
DisorderType: Clinical subtype
Name: Oculogastrointestinal muscular dystrophy
OrphaCode: 1876
DisorderType: Disease
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
OrphaCode: 2743
DisorderType: Malformation syndrome
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: Rare disorder with strabismus
OrphaCode: 98681
DisorderType: Category
Children: Name: Syndromic disorder with strabismus
OrphaCode: 98683
DisorderType: Category
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Arachnodactyly-abnormal ossification-intellectual disability syndrome
OrphaCode: 1129
DisorderType: Malformation syndrome
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
OrphaCode: 2057
DisorderType: Malformation syndrome
Name: Brachydactyly-nystagmus-cerebellar ataxia syndrome
OrphaCode: 1246
DisorderType: Malformation syndrome
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OrphaCode: 1369
DisorderType: Disease
Name: Cryptorchidism-arachnodactyly-intellectual disability syndrome
OrphaCode: 1548
DisorderType: Malformation syndrome
Name: Cyprus facial-neuromusculoskeletal syndrome
OrphaCode: 2674
DisorderType: Malformation syndrome
Name: Deaf blind hypopigmentation syndrome, Yemenite type
OrphaCode: 3214
DisorderType: Malformation syndrome
Name: Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
OrphaCode: 3038
DisorderType: Malformation syndrome
Name: Duane anomaly-myopathy-scoliosis syndrome
OrphaCode: 50817
DisorderType: Disease
Name: Gaucher disease type 2
OrphaCode: 77260
DisorderType: Clinical subtype
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: IVIC syndrome
OrphaCode: 2307
DisorderType: Malformation syndrome
Name: Infantile choroidocerebral calcification syndrome
OrphaCode: 1313
DisorderType: Disease
Name: Leukocyte adhesion deficiency
OrphaCode: 2968
DisorderType: Disease
Children: Name: Leukocyte adhesion deficiency type I
OrphaCode: 99842
DisorderType: Clinical subtype
Name: Leukocyte adhesion deficiency type II
OrphaCode: 99843
DisorderType: Clinical subtype
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: McDonough syndrome
OrphaCode: 2471
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Horizontal gaze palsy with progressive scoliosis
OrphaCode: 2744
DisorderType: Disease
Name: Mietens syndrome
OrphaCode: 2557
DisorderType: Malformation syndrome
Name: Monosomy 9q22.3
OrphaCode: 77301
DisorderType: Malformation syndrome
Name: Morning glory disc anomaly
OrphaCode: 35737
DisorderType: Morphological anomaly
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Congenital fibrosis of extraocular muscles
OrphaCode: 45358
DisorderType: Disease
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Craniostenosis with strabismus
OrphaCode: 98684
DisorderType: Category
Children: Name: Pfeiffer syndrome
OrphaCode: 710
DisorderType: Malformation syndrome
Children: Name: Pfeiffer syndrome type 1
OrphaCode: 93258
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 2
OrphaCode: 93259
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 3
OrphaCode: 93260
DisorderType: Clinical subtype
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Non-syndromic metopic craniosynostosis
OrphaCode: 3366
DisorderType: Morphological anomaly
Name: Non-syndromic sagittal craniosynostosis
OrphaCode: 35093
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Crouzon syndrome-acanthosis nigricans syndrome
OrphaCode: 93262
DisorderType: Malformation syndrome
Name: Intellectual disability-strabismus syndrome
OrphaCode: 363528
DisorderType: Disease
Name: HIDEA syndrome
OrphaCode: 436141
DisorderType: Malformation syndrome
Name: 8q12 microduplication syndrome
OrphaCode: 228399
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-seizures-psoriasis syndrome
OrphaCode: 3052
DisorderType: Disease
Name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OrphaCode: 3055
DisorderType: Malformation syndrome
Name: Progeroid syndrome, Petty type
OrphaCode: 2963
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Non-distal deletion 10q
OrphaCode: 1581
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Ptosis-strabismus-ectopic pupils syndrome
OrphaCode: 2999
DisorderType: Malformation syndrome
Name: Qazi-Markouizos syndrome
OrphaCode: 3010
DisorderType: Disease
Name: Radial ray hypoplasia-choanal atresia syndrome
OrphaCode: 3026
DisorderType: Malformation syndrome
Name: Schizencephaly
OrphaCode: 799
DisorderType: Disease
Children: Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: Acquired schizencephaly
OrphaCode: 485275
DisorderType: Etiological subtype
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Oculocutaneous albinism type 1B
OrphaCode: 79434
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 4
OrphaCode: 79435
DisorderType: Disease
Name: X-linked intellectual disability, Miles-Carpenter type
OrphaCode: 85283
DisorderType: Malformation syndrome
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
OrphaCode: 467176
DisorderType: Disease
Name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
OrphaCode: 522077
DisorderType: Disease
Name: Oculoosteocutaneous syndrome
OrphaCode: 2713
DisorderType: Malformation syndrome
Name: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
OrphaCode: 73246
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Telecanthus-hypertelorism-strabismus-pes cavus syndrome
OrphaCode: 3293
DisorderType: Malformation syndrome
Name: Rare ophthalmic disorder with cortical involvement
OrphaCode: 519343
DisorderType: Category
Children: Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Oculomotor apraxia
OrphaCode: 98688
DisorderType: Category
Children: Name: Ocular motor apraxia, Cogan type
OrphaCode: 1125
DisorderType: Disease
Name: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
OrphaCode: 505242
DisorderType: Disease
Name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
OrphaCode: 370022
DisorderType: Disease
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
OrphaCode: 2072
DisorderType: Clinical subtype
Name: Ataxia-oculomotor apraxia type 4
OrphaCode: 459033
DisorderType: Disease
Name: Alexander disease type II
OrphaCode: 363722
DisorderType: Clinical subtype
Name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
OrphaCode: 411986
DisorderType: Malformation syndrome
Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphaCode: 477814
DisorderType: Malformation syndrome
Name: Cerebral visual impairment
OrphaCode: 447788
DisorderType: Clinical syndrome
Name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
OrphaCode: 457351
DisorderType: Malformation syndrome
Name: Visual snow syndrome
OrphaCode: 420556
DisorderType: Disease
Name: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
OrphaCode: 488613
DisorderType: Malformation syndrome
Name: TELO2-related intellectual disability-neurodevelopmental disorder
OrphaCode: 488642
DisorderType: Malformation syndrome
Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: Cortical blindness-intellectual disability-polydactyly syndrome
OrphaCode: 1389
DisorderType: Malformation syndrome
Name: Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
OrphaCode: 519341
DisorderType: Category
Children: Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
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: Adult-onset autosomal dominant leukodystrophy
OrphaCode: 99027
DisorderType: Disease
Name: Opsoclonus-myoclonus syndrome
OrphaCode: 1183
DisorderType: Disease
Name: Gaucher disease type 3
OrphaCode: 77261
DisorderType: Clinical subtype
Name: Spasmus nutans
OrphaCode: 279882
DisorderType: Clinical syndrome
Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: GM1 gangliosidosis type 2
OrphaCode: 79256
DisorderType: Clinical subtype
Name: Spinocerebellar ataxia type 1
OrphaCode: 98755
DisorderType: Disease
Name: Spinocerebellar ataxia type 2
OrphaCode: 98756
DisorderType: Disease
Name: Joubert syndrome and related disorders
OrphaCode: 140874
DisorderType: Category
Children: Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Ataxia-oculomotor apraxia type 1
OrphaCode: 1168
DisorderType: Disease
Name: Spinocerebellar ataxia with axonal neuropathy type 2
OrphaCode: 64753
DisorderType: Disease
Name: Supranuclear eye movement disorder
OrphaCode: 98687
DisorderType: Category
Children: Name: Spinocerebellar ataxia type 7
OrphaCode: 94147
DisorderType: Disease
Name: Kufor-Rakeb syndrome
OrphaCode: 306674
DisorderType: Disease
Name: Wilson disease
OrphaCode: 905
DisorderType: Disease
Name: Leigh syndrome
OrphaCode: 506
DisorderType: Disease
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: 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: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
OrphaCode: 70472
DisorderType: Disease
Name: Duane retraction syndrome
OrphaCode: 233
DisorderType: Malformation syndrome
Name: Friedreich ataxia
OrphaCode: 95
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Rare scleral disorder
OrphaCode: 519298
DisorderType: Category
Children: Name: Rare scleritis
OrphaCode: 648559
DisorderType: Clinical group
Children: Name: Immune-mediated scleritis
OrphaCode: 648681
DisorderType: Disease
Name: Idiopathic scleritis
OrphaCode: 648675
DisorderType: Disease
Name: Infectious scleritis
OrphaCode: 648665
DisorderType: Disease
Name: Rare disorder with pigmented sclera
OrphaCode: 519296
DisorderType: Category
Children: Name: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OrphaCode: 2772
DisorderType: Malformation syndrome
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Alkaptonuria
OrphaCode: 56
DisorderType: Disease
Name: Hydrocephalus-blue sclerae-nephropathy syndrome
OrphaCode: 2186
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta type 1
OrphaCode: 216796
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 2
OrphaCode: 216804
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 3
OrphaCode: 216812
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 4
OrphaCode: 216820
DisorderType: Clinical subtype
Name: Braddock syndrome
OrphaCode: 52047
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Dyssegmental dysplasia, Silverman-Handmaker type
OrphaCode: 1865
DisorderType: Disease
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: Grant syndrome
OrphaCode: 2097
DisorderType: Malformation syndrome
Name: Grubben-de Cock-Borghgraef syndrome
OrphaCode: 2101
DisorderType: Malformation syndrome
Name: Sensorineural hearing loss-early graying-essential tremor syndrome
OrphaCode: 66633
DisorderType: Disease
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
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 11
OrphaCode: 231147
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: White forelock with malformations
OrphaCode: 2475
DisorderType: Malformation syndrome
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Uveitis
OrphaCode: 98715
DisorderType: Category
Children: Name: Intermediate uveitis
OrphaCode: 279914
DisorderType: Disease
Name: Anterior uveitis
OrphaCode: 280886
DisorderType: Category
Children: Name: Infectious anterior uveitis
OrphaCode: 279922
DisorderType: Disease
Name: Systemic diseases with anterior uveitis
OrphaCode: 280926
DisorderType: Category
Children: Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Behçet disease
OrphaCode: 117
DisorderType: Disease
Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
OrphaCode: 85408
DisorderType: Disease
Name: Oligoarticular juvenile idiopathic arthritis
OrphaCode: 85410
DisorderType: Disease
Name: Enthesitis-related juvenile idiopathic arthritis
OrphaCode: 85438
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: Tubulointerstitial nephritis and uveitis syndrome
OrphaCode: 91500
DisorderType: Disease
Name: Non-infectious anterior uveitis
OrphaCode: 306648
DisorderType: Category
Children: Name: Sympathetic ophthalmia
OrphaCode: 79098
DisorderType: Disease
Name: Phacoanaphylactic uveitis
OrphaCode: 209959
DisorderType: Disease
Name: Fuchs heterochromic iridocyclitis
OrphaCode: 263479
DisorderType: Disease
Name: Posterior uveitis
OrphaCode: 280892
DisorderType: Category
Children: Name: Non-infectious posterior uveitis
OrphaCode: 90061
DisorderType: Category
Children: Name: Birdshot chorioretinopathy
OrphaCode: 179
DisorderType: Disease
Name: Serpiginous choroiditis
OrphaCode: 35686
DisorderType: Disease
Name: Paraneoplastic uveitis
OrphaCode: 279928
DisorderType: Disease
Name: Idiopathic posterior uveitis
OrphaCode: 280917
DisorderType: Disease
Name: Punctate inner choroidopathy
OrphaCode: 580951
DisorderType: Disease
Name: Infectious posterior uveitis
OrphaCode: 279919
DisorderType: Disease
Name: Systemic diseases with posterior uveitis
OrphaCode: 280930
DisorderType: Category
Children: Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Behçet disease
OrphaCode: 117
DisorderType: Disease
Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: Panuveitis
OrphaCode: 280898
DisorderType: Category
Children: Name: Vogt-Koyanagi-Harada disease
OrphaCode: 3437
DisorderType: Disease
Name: Idiopathic uveal effusion syndrome
OrphaCode: 209956
DisorderType: Disease
Name: Infectious panuveitis
OrphaCode: 279925
DisorderType: Disease
Name: Idiopathic panuveitis
OrphaCode: 280921
DisorderType: Disease
Name: Systemic diseases with panuveitis
OrphaCode: 280933
DisorderType: Category
Children: Name: Chronic granulomatous disease
OrphaCode: 379
DisorderType: Disease
Name: Behçet disease
OrphaCode: 117
DisorderType: Disease
Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: Rare disorder of the posterior segment of the eye
OrphaCode: 519311
DisorderType: Category
Children: Name: Coloboma of choroid and retina
OrphaCode: 98942
DisorderType: Morphological anomaly
Name: Rare choroidal disorder
OrphaCode: 519309
DisorderType: Category
Children: Name: Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
OrphaCode: 139450
DisorderType: Malformation syndrome
Name: Idiopathic uveal effusion syndrome
OrphaCode: 209956
DisorderType: Disease
Name: Isolated chorioretinal dystrophy
OrphaCode: 519300
DisorderType: Category
Children: Name: Bietti crystalline dystrophy
OrphaCode: 41751
DisorderType: Disease
Name: Choroideremia
OrphaCode: 180
DisorderType: Disease
Name: Ectopia lentis-chorioretinal dystrophy-myopia syndrome
OrphaCode: 1884
DisorderType: Disease
Name: Sorsby pseudoinflammatory fundus dystrophy
OrphaCode: 59181
DisorderType: Disease
Name: Progressive bifocal chorioretinal atrophy
OrphaCode: 75373
DisorderType: Disease
Name: Central areolar choroidal dystrophy
OrphaCode: 75377
DisorderType: Disease
Name: Helicoid peripapillary chorioretinal degeneration
OrphaCode: 86813
DisorderType: Disease
Name: Pigmented paravenous retinochoroidal atrophy
OrphaCode: 251295
DisorderType: Disease
Name: Central serous chorioretinopathy
OrphaCode: 443079
DisorderType: Disease
Name: Syndromic chorioretinal dystrophy
OrphaCode: 519321
DisorderType: Category
Children: Name: Autosomal recessive chorioretinopathy-microcephaly syndrome
OrphaCode: 2518
DisorderType: Malformation syndrome
Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
OrphaCode: 369970
DisorderType: Disease
Name: Van den Bosch syndrome
OrphaCode: 3417
DisorderType: Malformation syndrome
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Choroidal atrophy-alopecia syndrome
OrphaCode: 1433
DisorderType: Malformation syndrome
Name: Punctate inner choroidopathy
OrphaCode: 580951
DisorderType: Disease
Name: Stellate multiform amelanotic choroidopathy
OrphaCode: 674958
DisorderType: Disease
Name: Choroidal osteoma
OrphaCode: 674965
DisorderType: Disease
Name: Rare retinal disorder
OrphaCode: 519315
DisorderType: Category
Children: Name: Acute macular neuroretinopathy
OrphaCode: 488239
DisorderType: Disease
Name: Autosomal dominant rhegmatogenous retinal detachment
OrphaCode: 209867
DisorderType: Disease
Name: Rare retinal vasculopathy
OrphaCode: 519317
DisorderType: Category
Children: Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Familial exudative vitreoretinopathy
OrphaCode: 891
DisorderType: Disease
Name: Eales disease
OrphaCode: 40923
DisorderType: Disease
Name: Susac syndrome
OrphaCode: 838
DisorderType: Disease
Name: Isolated retinal racemose hemangioma
OrphaCode: 674924
DisorderType: Disease
Name: Central retinal artery occlusion
OrphaCode: 648684
DisorderType: Disease
Name: Perifoveal exudative vascular anomalous complex
OrphaCode: 674930
DisorderType: Disease
Name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
OrphaCode: 247691
DisorderType: Disease
Name: Autosomal dominant neovascular inflammatory vitreoretinopathy
OrphaCode: 329211
DisorderType: Disease
Name: Coats plus syndrome
OrphaCode: 313838
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: Familial retinal arterial macroaneurysm
OrphaCode: 284247
DisorderType: Malformation syndrome
Name: Congenital retinal arteriovenous communication
OrphaCode: 353334
DisorderType: Morphological anomaly
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Central retinal vein occlusion
OrphaCode: 411527
DisorderType: Particular clinical situation in a disease or syndrome
Name: Retinal capillary malformation
OrphaCode: 71213
DisorderType: Disease
Name: Retinopathy of prematurity
OrphaCode: 90050
DisorderType: Disease
Name: IRVAN syndrome
OrphaCode: 209943
DisorderType: Disease
Name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
OrphaCode: 136
DisorderType: Disease
Name: Isolated angioid streaks
OrphaCode: 674943
DisorderType: Disease
Name: Diffuse unilateral subacute neuroretinitis
OrphaCode: 674947
DisorderType: Disease
Name: Multiple evanescent white dot syndrome
OrphaCode: 674953
DisorderType: Disease
Name: Bilateral diffuse uveal melanocytic proliferation disease
OrphaCode: 674968
DisorderType: Disease
Name: Acute zonal occult outer retinopathy
OrphaCode: 284454
DisorderType: Disease
Name: Acute annular outer retinopathy
OrphaCode: 284460
DisorderType: Disease
Name: Toxic maculopathy due to antimalarial drugs
OrphaCode: 279894
DisorderType: Disease
Name: Rare macular disorder
OrphaCode: 519313
DisorderType: Category
Children: Name: Coloboma of macula
OrphaCode: 98945
DisorderType: Morphological anomaly
Name: Idiopathic macular telangiectasia type 1
OrphaCode: 353344
DisorderType: Disease
Name: Idiopathic macular telangiectasia type 3
OrphaCode: 353351
DisorderType: Disease
Name: Torpedo Maculopathy
OrphaCode: 674935
DisorderType: Disease
Name: Isolated foveal hypoplasia
OrphaCode: 519398
DisorderType: Morphological anomaly
Name: Persistent placoid maculopathy
OrphaCode: 97341
DisorderType: Disease
Name: Bradyopsia
OrphaCode: 75374
DisorderType: Disease
Name: Inherited retinal disorder
OrphaCode: 71862
DisorderType: Category
Children: Name: Isolated inherited retinal disorder
OrphaCode: 520817
DisorderType: Category
Children: Name: Isolated stationary inherited retinal disorder
OrphaCode: 519319
DisorderType: Category
Children: Name: Stargardt disease
OrphaCode: 827
DisorderType: Disease
Name: Congenital stationary night blindness
OrphaCode: 215
DisorderType: Disease
Name: Oguchi disease
OrphaCode: 75382
DisorderType: Malformation syndrome
Name: Fundus albipunctatus
OrphaCode: 227796
DisorderType: Disease
Name: Achromatopsia
OrphaCode: 49382
DisorderType: Disease
Name: Blue cone monochromatism
OrphaCode: 16
DisorderType: Disease
Name: Oligocone trichromacy
OrphaCode: 75378
DisorderType: Disease
Name: X-linked cone dysfunction syndrome with myopia
OrphaCode: 90001
DisorderType: Disease
Name: Bietti crystalline dystrophy
OrphaCode: 41751
DisorderType: Disease
Name: Familial drusen
OrphaCode: 75376
DisorderType: Disease
Name: Kandori fleck retina
OrphaCode: 99179
DisorderType: Malformation syndrome
Name: Familial benign flecked retina
OrphaCode: 363989
DisorderType: Disease
Name: Isolated progressive inherited retinal disorder
OrphaCode: 519306
DisorderType: Category
Children: Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Goldmann-Favre syndrome
OrphaCode: 53540
DisorderType: Disease
Name: Bothnia retinal dystrophy
OrphaCode: 85128
DisorderType: Disease
Name: Autosomal recessive bestrophinopathy
OrphaCode: 139455
DisorderType: Disease
Name: Åland Islands eye disease
OrphaCode: 178333
DisorderType: Disease
Name: Cone dystrophy with supernormal rod response
OrphaCode: 209932
DisorderType: Disease
Name: Severe early-childhood-onset retinal dystrophy
OrphaCode: 364055
DisorderType: Disease
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Late-onset retinal degeneration
OrphaCode: 67042
DisorderType: Disease
Name: Isolated macular dystrophy
OrphaCode: 519302
DisorderType: Category
Children: Name: Stargardt disease
OrphaCode: 827
DisorderType: Disease
Name: Best vitelliform macular dystrophy
OrphaCode: 1243
DisorderType: Disease
Name: Pattern dystrophy
OrphaCode: 63454
DisorderType: Category
Children: Name: Butterfly-shaped pigment dystrophy
OrphaCode: 99001
DisorderType: Disease
Name: Reticular dystrophy of the retinal pigment epithelium
OrphaCode: 99002
DisorderType: Disease
Name: Multifocal pattern dystrophy simulating fundus flavimaculatus
OrphaCode: 99003
DisorderType: Disease
Name: Fundus pulverulentus
OrphaCode: 99004
DisorderType: Disease
Name: Adult-onset foveomacular vitelliform dystrophy
OrphaCode: 99000
DisorderType: Disease
Name: Sorsby pseudoinflammatory fundus dystrophy
OrphaCode: 59181
DisorderType: Disease
Name: North Carolina macular dystrophy
OrphaCode: 75327
DisorderType: Disease
Name: Central areolar choroidal dystrophy
OrphaCode: 75377
DisorderType: Disease
Name: Benign concentric annular macular dystrophy
OrphaCode: 251287
DisorderType: Disease
Name: Retinal macular dystrophy type 2
OrphaCode: 319640
DisorderType: Disease
Name: Occult macular dystrophy
OrphaCode: 247834
DisorderType: Disease
Name: Cystoid macular dystrophy
OrphaCode: 75381
DisorderType: Disease
Name: Cone rod dystrophy-short stature syndrome
OrphaCode: 653709
DisorderType: Disease
Name: Retinitis pigmentosa
OrphaCode: 791
DisorderType: Disease
Name: Cone rod dystrophy
OrphaCode: 1872
DisorderType: Disease
Name: Progressive cone dystrophy
OrphaCode: 1871
DisorderType: Disease
Name: Retinitis punctata albescens
OrphaCode: 52427
DisorderType: Disease
Name: Syndromic inherited retinal disorder
OrphaCode: 519325
DisorderType: Category
Children: Name: Gardner syndrome
OrphaCode: 79665
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, adult form
OrphaCode: 309192
DisorderType: Clinical subtype
Name: Tay-Sachs disease, juvenile form
OrphaCode: 309185
DisorderType: Clinical subtype
Name: Infantile neurovisceral acid sphingomyelinase deficiency
OrphaCode: 77292
DisorderType: Disease
Name: Gaucher disease type 1
OrphaCode: 77259
DisorderType: Clinical subtype
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Blindness-scoliosis-arachnodactyly syndrome
OrphaCode: 171844
DisorderType: Malformation syndrome
Name: Snowflake vitreoretinal degeneration
OrphaCode: 91496
DisorderType: Disease
Name: Knobloch syndrome
OrphaCode: 1571
DisorderType: Malformation syndrome
Name: Primary hyperoxaluria type 1
OrphaCode: 93598
DisorderType: Clinical subtype
Name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
OrphaCode: 85167
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: GM1 gangliosidosis type 1
OrphaCode: 79255
DisorderType: Clinical subtype
Name: Hypotrichosis with juvenile macular degeneration
OrphaCode: 1573
DisorderType: Malformation syndrome
Name: AICA-ribosiduria
OrphaCode: 250977
DisorderType: Disease
Name: Revesz syndrome
OrphaCode: 3088
DisorderType: Malformation syndrome
Name: Autosomal recessive chorioretinopathy-microcephaly syndrome
OrphaCode: 2518
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Amaurosis-hypertrichosis syndrome
OrphaCode: 1021
DisorderType: Disease
Name: Aceruloplasminemia
OrphaCode: 48818
DisorderType: Disease
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Cleft lip-retinopathy syndrome
OrphaCode: 1995
DisorderType: Malformation syndrome
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: Aplasia cutis-myopia syndrome
OrphaCode: 1117
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cerebellar hypoplasia-tapetoretinal degeneration syndrome
OrphaCode: 2246
DisorderType: Malformation syndrome
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Jalili syndrome
OrphaCode: 1873
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Syndromic rod-cone dystrophy
OrphaCode: 98661
DisorderType: Category
Children: Name: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OrphaCode: 171848
DisorderType: Disease
Name: Primary ciliary dyskinesia-retinitis pigmentosa syndrome
OrphaCode: 247522
DisorderType: Disease
Name: Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
OrphaCode: 314572
DisorderType: Disease
Name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
OrphaCode: 436245
DisorderType: Disease
Name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
OrphaCode: 436274
DisorderType: Disease
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Laurence-Moon syndrome
OrphaCode: 2377
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: Usher syndrome
OrphaCode: 886
DisorderType: Disease
Children: Name: Usher syndrome type 3
OrphaCode: 231183
DisorderType: Clinical subtype
Name: Usher syndrome type 1
OrphaCode: 231169
DisorderType: Clinical subtype
Name: Usher syndrome type 2
OrphaCode: 231178
DisorderType: Clinical subtype
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
OrphaCode: 2579
DisorderType: Disease
Name: Oculotrichodysplasia
OrphaCode: 2718
DisorderType: Malformation syndrome
Name: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
OrphaCode: 3011
DisorderType: Disease
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: RHYNS syndrome
OrphaCode: 140976
DisorderType: Disease
Name: MRCS syndrome
OrphaCode: 263347
DisorderType: Disease
Name: Methylmalonic acidemia with homocystinuria, type cblC
OrphaCode: 79282
DisorderType: Clinical subtype
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Retinal degeneration-nanophthalmos-glaucoma syndrome
OrphaCode: 1574
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-retinitis pigmentosa syndrome
OrphaCode: 85332
DisorderType: Disease
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Hardikar syndrome
OrphaCode: 1415
DisorderType: Malformation syndrome
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: Ataxia with vitamin E deficiency
OrphaCode: 96
DisorderType: Disease
Name: NARP syndrome
OrphaCode: 644
DisorderType: Disease
Name: Peroxisome biogenesis disorder
OrphaCode: 79189
DisorderType: Clinical group
Children: Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Axial spondylometaphyseal dysplasia
OrphaCode: 168549
DisorderType: Disease
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
OrphaCode: 2196
DisorderType: Clinical subtype
Name: Senior-Loken syndrome
OrphaCode: 3156
DisorderType: Disease
Name: Tricho-retino-dento-digital syndrome
OrphaCode: 1264
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: Sandhoff disease
OrphaCode: 796
DisorderType: Disease
Children: Name: Sandhoff disease, adult form
OrphaCode: 309169
DisorderType: Clinical subtype
Name: Sandhoff disease, juvenile form
OrphaCode: 309162
DisorderType: Clinical subtype
Name: Sandhoff disease, infantile form
OrphaCode: 309155
DisorderType: Clinical subtype
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
OrphaCode: 313800
DisorderType: Disease
Name: Sialidosis
OrphaCode: 309294
DisorderType: Clinical group
Children: 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: Sialidosis type 1
OrphaCode: 812
DisorderType: Disease
Name: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
OrphaCode: 397758
DisorderType: Disease
Name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
OrphaCode: 423479
DisorderType: Disease
Name: Martinique crinkled retinal pigment epitheliopathy
OrphaCode: 466718
DisorderType: Disease
Name: Progressive retinal dystrophy due to retinol transport defect
OrphaCode: 352718
DisorderType: Disease
Name: Infantile cerebellar-retinal degeneration
OrphaCode: 313850
DisorderType: Disease
Name: Galactosialidosis
OrphaCode: 351
DisorderType: Disease
Name: Sjögren-Larsson syndrome
OrphaCode: 816
DisorderType: Disease
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Syndromic macular dystrophy
OrphaCode: 519323
DisorderType: Category
Children: Name: Coloboma of macula-brachydactyly type B syndrome
OrphaCode: 1471
DisorderType: Malformation syndrome
Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
OrphaCode: 2196
DisorderType: Clinical subtype
Name: Macular coloboma-cleft palate-hallux valgus syndrome
OrphaCode: 91494
DisorderType: Malformation syndrome
Name: Farber disease
OrphaCode: 333
DisorderType: Disease
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
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: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: X-linked retinal dysplasia
OrphaCode: 1852
DisorderType: Disease
Name: Cancer-associated retinopathy
OrphaCode: 71505
DisorderType: Disease
Name: Vitreoretinopathy
OrphaCode: 98668
DisorderType: Category
Children: Name: Isolated vitreoretinopathy
OrphaCode: 519304
DisorderType: Category
Children: Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Autosomal dominant vitreoretinochoroidopathy
OrphaCode: 3086
DisorderType: Disease
Name: Familial exudative vitreoretinopathy
OrphaCode: 891
DisorderType: Disease
Name: Wagner disease
OrphaCode: 898
DisorderType: Disease
Name: Goldmann-Favre syndrome
OrphaCode: 53540
DisorderType: Disease
Name: Persistent hyperplastic primary vitreous
OrphaCode: 91495
DisorderType: Disease
Name: Autosomal dominant neovascular inflammatory vitreoretinopathy
OrphaCode: 329211
DisorderType: Disease
Name: Snowflake vitreoretinal degeneration
OrphaCode: 91496
DisorderType: Disease
Name: Syndromic vitreoretinopathy
OrphaCode: 519327
DisorderType: Category
Children: Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Coats plus syndrome
OrphaCode: 313838
DisorderType: Disease
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Knobloch syndrome
OrphaCode: 1571
DisorderType: Malformation syndrome
Name: Rare disorder involving multiple structures of the eye
OrphaCode: 519329
DisorderType: Category
Children: Name: Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
OrphaCode: 617449
DisorderType: Disease
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Oculocutaneous or ocular albinism
OrphaCode: 98706
DisorderType: Category
Children: Name: Oculocutaneous albinism
OrphaCode: 55
DisorderType: Clinical group
Children: Name: Oculocutaneous albinism type 2
OrphaCode: 79432
DisorderType: Disease
Name: Oculocutaneous albinism type 3
OrphaCode: 79433
DisorderType: Disease
Name: Oculocutaneous albinism type 4
OrphaCode: 79435
DisorderType: Disease
Name: Oculocutaneous albinism type 1
OrphaCode: 352731
DisorderType: Disease
Children: Name: Oculocutaneous albinism type 1A
OrphaCode: 79431
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 1B
OrphaCode: 79434
DisorderType: Clinical subtype
Name: Minimal pigment oculocutaneous albinism type 1
OrphaCode: 352734
DisorderType: Clinical subtype
Name: Temperature-sensitive oculocutaneous albinism type 1
OrphaCode: 352737
DisorderType: Clinical subtype
Name: Oculocutaneous albinism type 7
OrphaCode: 352745
DisorderType: Disease
Name: Oculocutaneous albinism type 5
OrphaCode: 370091
DisorderType: Disease
Name: Oculocutaneous albinism type 6
OrphaCode: 370097
DisorderType: Disease
Name: Oculocutaneous albinism type 8
OrphaCode: 597733
DisorderType: Disease
Name: Ocular albinism
OrphaCode: 284804
DisorderType: Clinical group
Children: Name: Ocular albinism with late-onset sensorineural deafness
OrphaCode: 1000
DisorderType: Disease
Name: X-linked recessive ocular albinism
OrphaCode: 54
DisorderType: Disease
Name: Syndromic oculocutaneous albinism
OrphaCode: 284811
DisorderType: Category
Children: Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Chédiak-Higashi syndrome
OrphaCode: 167
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: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Hermansky-Pudlak syndrome
OrphaCode: 79430
DisorderType: Disease
Children: Name: Hermansky-Pudlak syndrome due to AP-3 deficiency
OrphaCode: 183678
DisorderType: Clinical subtype
Children: Name: Hermansky-Pudlak syndrome due to AP3B1 deficiency
OrphaCode: 664500
DisorderType: Clinical subtype
Name: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
OrphaCode: 664511
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-3 deficiency
OrphaCode: 231500
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-2 deficiency
OrphaCode: 231512
DisorderType: Clinical subtype
Name: Hermansky-Pudlak syndrome due to BLOC-1 deficiency
OrphaCode: 231531
DisorderType: Clinical subtype
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Endophthalmitis
OrphaCode: 199323
DisorderType: Disease
Children: Name: Acute endophthalmitis
OrphaCode: 279888
DisorderType: Clinical subtype
Name: Chronic endophthalmitis
OrphaCode: 279891
DisorderType: Clinical subtype
Name: IgG4-related ophthalmic disease
OrphaCode: 449563
DisorderType: Clinical subtype
Name: Pediatric-onset glaucoma
OrphaCode: 523000
DisorderType: Category
Children: Name: Primary early-onset glaucoma
OrphaCode: 156005
DisorderType: Clinical group
Children: Name: Congenital glaucoma
OrphaCode: 98976
DisorderType: Disease
Name: Juvenile glaucoma
OrphaCode: 98977
DisorderType: Disease
Name: Secondary early-onset glaucoma
OrphaCode: 519331
DisorderType: Category
Children: Name: Congenital malformation of the eye with glaucoma as a major feature
OrphaCode: 98631
DisorderType: Category
Children: Name: X-linked retinoschisis
OrphaCode: 792
DisorderType: Malformation syndrome
Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Anterior segment developmental anomaly without extraocular manifestations
OrphaCode: 98634
DisorderType: Category
Children: Name: Bilateral acute depigmentation of the iris
OrphaCode: 69736
DisorderType: Disease
Name: Axenfeld anomaly
OrphaCode: 98978
DisorderType: Morphological anomaly
Name: Peters anomaly
OrphaCode: 708
DisorderType: Morphological anomaly
Name: Autosomal recessive anterior segment dysgenesis
OrphaCode: 519388
DisorderType: Malformation syndrome
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Rieger anomaly
OrphaCode: 91483
DisorderType: Morphological anomaly
Name: Congenital microcoria
OrphaCode: 566
DisorderType: Malformation syndrome
Name: Congenital ectropion uveae
OrphaCode: 91491
DisorderType: Malformation syndrome
Name: Coloboma of iris
OrphaCode: 98944
DisorderType: Morphological anomaly
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Isolated iridoschisis
OrphaCode: 519392
DisorderType: Disease
Name: Iridocorneal endothelial syndrome
OrphaCode: 64734
DisorderType: Disease
Children: Name: Chandler syndrome
OrphaCode: 98979
DisorderType: Clinical subtype
Name: Cogan-Reese syndrome
OrphaCode: 98980
DisorderType: Clinical subtype
Name: Essential iris atrophy
OrphaCode: 98981
DisorderType: Clinical subtype
Name: Posterior polymorphous corneal dystrophy
OrphaCode: 98973
DisorderType: Disease
Name: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
OrphaCode: 238763
DisorderType: Malformation syndrome
Name: Neovascular glaucoma
OrphaCode: 94058
DisorderType: Particular clinical situation in a disease or syndrome
Name: Rare disease with glaucoma as a major feature
OrphaCode: 98638
DisorderType: Category
Children: Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Aniridia-absent patella syndrome
OrphaCode: 1069
DisorderType: Malformation syndrome
Name: Blepharoptosis-myopia-ectopia lentis syndrome
OrphaCode: 1259
DisorderType: Disease
Name: Desbuquois syndrome
OrphaCode: 1425
DisorderType: Malformation syndrome
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
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: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Phakomatosis pigmentovascularis
OrphaCode: 2875
DisorderType: Disease
Children: Name: Phakomatosis cesioflammea
OrphaCode: 79483
DisorderType: Clinical subtype
Name: Phakomatosis cesiomarmorata
OrphaCode: 79484
DisorderType: Clinical subtype
Name: Phakomatosis spilorosea
OrphaCode: 79485
DisorderType: Clinical subtype
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
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: 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: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcornea-glaucoma-absent frontal sinuses syndrome
OrphaCode: 2536
DisorderType: Malformation syndrome
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Spastic paraplegia-glaucoma-intellectual disability syndrome
OrphaCode: 2818
DisorderType: Disease
Name: Glaucoma-sleep apnea syndrome
OrphaCode: 2085
DisorderType: Disease
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Glaucomatocyclitic crisis disease
OrphaCode: 636950
DisorderType: Disease
Name: Keratitis fugax hereditaria
OrphaCode: 647815
DisorderType: Disease
Name: Scarring in glaucoma filtration surgical procedures
OrphaCode: 90080
DisorderType: Particular clinical situation in a disease or syndrome
Name: Structural developmental eye defect
OrphaCode: 519272
DisorderType: Category
Children: Name: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
OrphaCode: 659904
DisorderType: Malformation syndrome
Name: Euthyroid Graves orbitopathy
OrphaCode: 466682
DisorderType: Disease
Name: Colobomatous macrophthalmia-microcornea syndrome
OrphaCode: 468672
DisorderType: Disease
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Congenital cystic eye
OrphaCode: 519384
DisorderType: Morphological anomaly
Name: Microphthalmia-anophthalmia-coloboma
OrphaCode: 98555
DisorderType: Category
Children: Name: Isolated microphthalmia-anophthalmia-coloboma
OrphaCode: 2542
DisorderType: Clinical group
Children: Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia
OrphaCode: 98938
DisorderType: Malformation syndrome
Name: Syndromic microphthalmia-anophthalmia-coloboma
OrphaCode: 202948
DisorderType: Category
Children: Name: Microphthalmia with limb anomalies
OrphaCode: 1106
DisorderType: Malformation syndrome
Name: Microphthalmia-microtia-fetal akinesia syndrome
OrphaCode: 2547
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: MMEP syndrome
OrphaCode: 3434
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Syndromic microphthalmia type 5
OrphaCode: 178364
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Oculoauricular syndrome, Schorderet type
OrphaCode: 157962
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-blindness syndrome
OrphaCode: 1806
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
OrphaCode: 251279
DisorderType: Disease
Name: High myopia-sensorineural deafness syndrome
OrphaCode: 363396
DisorderType: Disease
Name: Rare disorder of the ocular adnexa
OrphaCode: 519266
DisorderType: Category
Children: Name: Rare palpebral disorder
OrphaCode: 98560
DisorderType: Category
Children: Name: Congenital malformation of the eyelid
OrphaCode: 98561
DisorderType: Category
Children: Name: Cryptophthalmia
OrphaCode: 98562
DisorderType: Category
Children: Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Isolated cryptophthalmia
OrphaCode: 91396
DisorderType: Morphological anomaly
Children: Name: Congenital symblepharon
OrphaCode: 98948
DisorderType: Clinical subtype
Name: Complete cryptophthalmia
OrphaCode: 98949
DisorderType: Clinical subtype
Name: Partial cryptophthalmia
OrphaCode: 98950
DisorderType: Clinical subtype
Name: Microblepharon-ablephara syndrome
OrphaCode: 98563
DisorderType: Clinical group
Children: Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
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: Eyelid border anomaly
OrphaCode: 98564
DisorderType: Category
Children: Name: Isolated ankyloblepharon filiforme adnatum
OrphaCode: 91397
DisorderType: Morphological anomaly
Name: Syndromic ankyloblepharon filiforme adnatum
OrphaCode: 98565
DisorderType: Category
Children: Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: Syndromic eyelid coloboma
OrphaCode: 98566
DisorderType: Category
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Oculotrichoanal syndrome
OrphaCode: 2717
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Nasopalpebral lipoma-coloboma syndrome
OrphaCode: 2399
DisorderType: Malformation syndrome
Name: Coloboma of eyelid
OrphaCode: 98946
DisorderType: Morphological anomaly
Name: Congenital eyelid retraction
OrphaCode: 99176
DisorderType: Morphological anomaly
Name: Rare eyelid malposition disorder
OrphaCode: 98567
DisorderType: Category
Children: Name: Epiblepharon
OrphaCode: 99169
DisorderType: Morphological anomaly
Name: Euryblepharon
OrphaCode: 99172
DisorderType: Morphological anomaly
Name: Syndromic epicanthus
OrphaCode: 98574
DisorderType: Category
Children: Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Monosomy 5p
OrphaCode: 281
DisorderType: Malformation syndrome
Name: Monosomy 13q14
OrphaCode: 1587
DisorderType: Malformation syndrome
Name: Distal duplication 14q
OrphaCode: 1705
DisorderType: Malformation syndrome
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Syndromic telecanthus
OrphaCode: 98575
DisorderType: Category
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome
OrphaCode: 126
DisorderType: Malformation syndrome
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
OrphaCode: 572361
DisorderType: Clinical subtype
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Oculocerebrofacial syndrome, Kaufman type
OrphaCode: 2707
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: Ascher syndrome
OrphaCode: 1253
DisorderType: Malformation syndrome
Name: Rare disorder with entropion
OrphaCode: 519270
DisorderType: Category
Children: Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Tarsal kink syndrome
OrphaCode: 99170
DisorderType: Morphological anomaly
Name: Isolated congenital entropion
OrphaCode: 519386
DisorderType: Morphological anomaly
Name: Rare disorder with ectropion
OrphaCode: 519268
DisorderType: Category
Children: Name: Congenital ectropion
OrphaCode: 98570
DisorderType: Category
Children: Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Isolated congenital ectropion
OrphaCode: 99171
DisorderType: Morphological anomaly
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Secondary ectropion
OrphaCode: 98571
DisorderType: Category
Children: Name: Autosomal recessive congenital ichthyosis
OrphaCode: 281097
DisorderType: Clinical group
Children: Name: Exfoliative ichthyosis
OrphaCode: 289586
DisorderType: Disease
Name: Self-improving collodion baby
OrphaCode: 281122
DisorderType: Disease
Name: Acral self-healing collodion baby
OrphaCode: 281127
DisorderType: Disease
Name: Congenital ichthyosiform erythroderma
OrphaCode: 79394
DisorderType: Disease
Name: Lamellar ichthyosis
OrphaCode: 313
DisorderType: Disease
Name: Harlequin ichthyosis
OrphaCode: 457
DisorderType: Disease
Name: Bathing suit ichthyosis
OrphaCode: 100976
DisorderType: Disease
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Syndromic outer canthal malposition
OrphaCode: 98576
DisorderType: Category
Children: Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Rare disorder with ptosis
OrphaCode: 98578
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: 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: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome
OrphaCode: 126
DisorderType: Malformation syndrome
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
OrphaCode: 572361
DisorderType: Clinical subtype
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Oculopharyngeal muscular dystrophy
OrphaCode: 270
DisorderType: Disease
Name: Oculogastrointestinal muscular dystrophy
OrphaCode: 1876
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OrphaCode: 1352
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
OrphaCode: 2057
DisorderType: Malformation syndrome
Name: Acrootoocular syndrome
OrphaCode: 2980
DisorderType: Malformation syndrome
Name: Ptosis-vocal cord paralysis syndrome
OrphaCode: 2997
DisorderType: Malformation syndrome
Name: Ptosis-strabismus-ectopic pupils syndrome
OrphaCode: 2999
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
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: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Congenital fibrosis of extraocular muscles
OrphaCode: 45358
DisorderType: Disease
Name: Char syndrome
OrphaCode: 46627
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Congenital ptosis
OrphaCode: 91411
DisorderType: Disease
Name: Marcus-Gunn syndrome
OrphaCode: 91412
DisorderType: Disease
Children: Name: Inverse Marcus-Gunn phenomenon
OrphaCode: 98951
DisorderType: Clinical subtype
Name: Marin-Amat syndrome
OrphaCode: 101104
DisorderType: Clinical subtype
Name: Congenital Horner syndrome
OrphaCode: 91413
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
OrphaCode: 228396
DisorderType: Malformation syndrome
Name: Camptodactyly-joint contractures-facial skeletal defects syndrome
OrphaCode: 1323
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome
OrphaCode: 293642
DisorderType: Clinical group
Children: 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: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Ohdo type
OrphaCode: 2728
DisorderType: Malformation syndrome
Name: SMARCA2-related blepharophimosis-intellectual disability syndrome
OrphaCode: 637013
DisorderType: Malformation syndrome
Name: Weiss-Kruszka Syndrome
OrphaCode: 502430
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: Isolated blepharochalasis
OrphaCode: 519390
DisorderType: Disease
Name: Mucous membrane pemphigoid
OrphaCode: 46486
DisorderType: Disease
Name: Rare eyebrow/eyelash disorder
OrphaCode: 98594
DisorderType: Category
Children: Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: Isolated distichiasis
OrphaCode: 99177
DisorderType: Morphological anomaly
Name: Rare disorder of the lacrimal apparatus
OrphaCode: 98602
DisorderType: Category
Children: Name: Congenital alacrima
OrphaCode: 98604
DisorderType: Category
Children: Name: Aplasia of lacrimal and salivary glands
OrphaCode: 86815
DisorderType: Disease
Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Isolated congenital alacrima
OrphaCode: 91416
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia
OrphaCode: 238468
DisorderType: Disease
Children: Name: X-linked hypohidrotic ectodermal dysplasia
OrphaCode: 181
DisorderType: Etiological subtype
Name: Autosomal recessive hypohidrotic ectodermal dysplasia
OrphaCode: 248
DisorderType: Etiological subtype
Name: Autosomal dominant hypohidrotic ectodermal dysplasia
OrphaCode: 1810
DisorderType: Etiological subtype
Name: Intellectual disability-alacrima-achalasia syndrome
OrphaCode: 289483
DisorderType: Disease
Name: Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
OrphaCode: 528105
DisorderType: Disease
Name: Alacrimia-choreoathetosis-liver dysfunction syndrome
OrphaCode: 404454
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: EEC syndrome and related disorders
OrphaCode: 98609
DisorderType: Category
Children: Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Inflammatory/autoimmune disorder involving the lacrimal system
OrphaCode: 519264
DisorderType: Category
Children: Name: IgG4-related dacryoadenitis and sialadenitis
OrphaCode: 79078
DisorderType: Clinical subtype
Name: Lacrimal drainage system anomaly
OrphaCode: 98605
DisorderType: Category
Children: Name: Syndromic lacrimal system disorder
OrphaCode: 519274
DisorderType: Category
Children: Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Syndromic orbital border hypoplasia
OrphaCode: 98606
DisorderType: Malformation syndrome
Name: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
OrphaCode: 228396
DisorderType: Malformation syndrome
Name: Familial congenital nasolacrimal duct obstruction
OrphaCode: 451612
DisorderType: Morphological anomaly
Name: Nasolacrimal duct cyst
OrphaCode: 141083
DisorderType: Morphological anomaly
Name: Rare disorder of the anterior segment of the eye
OrphaCode: 519284
DisorderType: Category
Children: Name: Rare disorder with conjunctival involvement as a major feature
OrphaCode: 98610
DisorderType: Category
Children: Name: Hypoplasminogenemia
OrphaCode: 722
DisorderType: Disease
Name: Ocular cicatricial pemphigoid
OrphaCode: 99922
DisorderType: Disease
Name: Rare conjunctivitis
OrphaCode: 519280
DisorderType: Category
Children: Name: Gonococcal conjunctivitis
OrphaCode: 1482
DisorderType: Disease
Name: Vernal keratoconjunctivitis
OrphaCode: 70476
DisorderType: Disease
Name: Superior limbic keratoconjunctivitis
OrphaCode: 88633
DisorderType: Disease
Name: Atopic keratoconjunctivitis
OrphaCode: 163934
DisorderType: Disease
Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Familial pterygium of the conjunctiva
OrphaCode: 2989
DisorderType: Morphological anomaly
Name: Rare corneal disorder
OrphaCode: 519282
DisorderType: Category
Children: Name: Limbal stem cell deficiency
OrphaCode: 171673
DisorderType: Disease
Name: Congenital cornea plana
OrphaCode: 53691
DisorderType: Morphological anomaly
Name: Corneodysgenesis
OrphaCode: 98635
DisorderType: Category
Children: Name: Isolated congenital megalocornea
OrphaCode: 91489
DisorderType: Morphological anomaly
Name: Isolated congenital sclerocornea
OrphaCode: 91490
DisorderType: Morphological anomaly
Name: Rare disorder with corneal involvement as a major feature
OrphaCode: 519288
DisorderType: Category
Children: Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Corneal dystrophy
OrphaCode: 34533
DisorderType: Category
Children: Name: Posterior corneal dystrophy
OrphaCode: 98627
DisorderType: Category
Children: Name: X-linked endothelial corneal dystrophy
OrphaCode: 293621
DisorderType: Disease
Name: Posterior polymorphous corneal dystrophy
OrphaCode: 98973
DisorderType: Disease
Name: Fuchs endothelial corneal dystrophy
OrphaCode: 98974
DisorderType: Disease
Name: Congenital hereditary endothelial dystrophy type II
OrphaCode: 293603
DisorderType: Disease
Name: Syndromic corneal dystrophy
OrphaCode: 98628
DisorderType: Category
Children: Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Spinocerebellar degeneration-corneal dystrophy syndrome
OrphaCode: 3177
DisorderType: Malformation syndrome
Name: LCAT deficiency
OrphaCode: 650
DisorderType: Disease
Children: Name: Fish-eye disease
OrphaCode: 79292
DisorderType: Clinical subtype
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Recessive X-linked ichthyosis
OrphaCode: 461
DisorderType: Disease
Name: Corneal dystrophy-perceptive deafness syndrome
OrphaCode: 1490
DisorderType: Malformation syndrome
Name: X-linked corneal dermoid
OrphaCode: 1661
DisorderType: Disease
Name: Mietens syndrome
OrphaCode: 2557
DisorderType: Malformation syndrome
Name: Spastic ataxia-corneal dystrophy syndrome
OrphaCode: 2572
DisorderType: Disease
Name: Oculodental syndrome, Rutherfurd type
OrphaCode: 2709
DisorderType: Malformation syndrome
Name: Ophthalmomandibulomelic dysplasia
OrphaCode: 2741
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: Corneodermatoosseous syndrome
OrphaCode: 3194
DisorderType: Malformation syndrome
Name: Dermochondrocorneal dystrophy
OrphaCode: 79149
DisorderType: Disease
Name: AGel amyloidosis
OrphaCode: 85448
DisorderType: Disease
Name: X-linked reticulate pigmentary disorder
OrphaCode: 85453
DisorderType: Disease
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Superficial corneal dystrophy
OrphaCode: 98625
DisorderType: Category
Children: Name: Climatic droplet keratopathy
OrphaCode: 98958
DisorderType: Disease
Name: Meesmann corneal dystrophy
OrphaCode: 98954
DisorderType: Disease
Name: Lisch epithelial corneal dystrophy
OrphaCode: 98955
DisorderType: Disease
Name: Subepithelial mucinous corneal dystrophy
OrphaCode: 98959
DisorderType: Disease
Name: Epithelial basement membrane dystrophy
OrphaCode: 98956
DisorderType: Disease
Name: Reis-Bücklers corneal dystrophy
OrphaCode: 98961
DisorderType: Disease
Name: Gelatinous drop-like corneal dystrophy
OrphaCode: 98957
DisorderType: Disease
Name: Grayson-Wilbrandt corneal dystrophy
OrphaCode: 293375
DisorderType: Disease
Name: Thiel-Behnke corneal dystrophy
OrphaCode: 98960
DisorderType: Disease
Name: Epithelial recurrent erosion dystrophy
OrphaCode: 293381
DisorderType: Disease
Name: Hereditary benign intraepithelial dyskeratosis
OrphaCode: 352657
DisorderType: Disease
Name: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
OrphaCode: 352662
DisorderType: Disease
Name: Stromal corneal dystrophy
OrphaCode: 98626
DisorderType: Category
Children: Name: Central cloudy dystrophy of François
OrphaCode: 98972
DisorderType: Disease
Name: Granular corneal dystrophy type I
OrphaCode: 98962
DisorderType: Disease
Name: Granular corneal dystrophy type II
OrphaCode: 98963
DisorderType: Disease
Name: Lattice corneal dystrophy type I
OrphaCode: 98964
DisorderType: Disease
Name: Schnyder corneal dystrophy
OrphaCode: 98967
DisorderType: Disease
Name: Macular corneal dystrophy
OrphaCode: 98969
DisorderType: Disease
Name: Fleck corneal dystrophy
OrphaCode: 98970
DisorderType: Disease
Name: Posterior amorphous corneal dystrophy
OrphaCode: 98971
DisorderType: Disease
Name: Congenital stromal corneal dystrophy
OrphaCode: 101068
DisorderType: Disease
Name: Pre-Descemet corneal dystrophy
OrphaCode: 293462
DisorderType: Disease
Name: Syndromic keratoconus
OrphaCode: 98623
DisorderType: Category
Children: Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Vernal keratoconjunctivitis
OrphaCode: 70476
DisorderType: Disease
Name: EDICT syndrome
OrphaCode: 293936
DisorderType: Disease
Name: Rare inflammatory/autoimmune corneal disorder
OrphaCode: 519290
DisorderType: Category
Children: Name: Autosomal dominant keratitis
OrphaCode: 2334
DisorderType: Disease
Name: Idiopathic linear interstitial keratitis
OrphaCode: 314017
DisorderType: Disease
Name: Cogan syndrome
OrphaCode: 1467
DisorderType: Disease
Name: Infective keratitis
OrphaCode: 519278
DisorderType: Category
Children: Name: Infectious epithelial keratitis
OrphaCode: 137593
DisorderType: Disease
Name: Amoebic keratitis
OrphaCode: 67043
DisorderType: Disease
Name: Fungal keratitis
OrphaCode: 519930
DisorderType: Disease
Name: Herpes simplex virus stromal keratitis
OrphaCode: 137599
DisorderType: Disease
Name: Corneal endotheliitis
OrphaCode: 137602
DisorderType: Disease
Name: Neurotrophic keratopathy
OrphaCode: 137596
DisorderType: Disease
Name: Thygeson superficial punctate keratitis
OrphaCode: 519406
DisorderType: Disease
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Mooren ulcer
OrphaCode: 519408
DisorderType: Disease
Name: Pellucid marginal degeneration
OrphaCode: 137672
DisorderType: Disease
Name: Terrien marginal degeneration
OrphaCode: 519410
DisorderType: Disease
Name: Severe generalized junctional epidermolysis bullosa
OrphaCode: 79404
DisorderType: Disease
Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OrphaCode: 79408
DisorderType: Disease
Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
OrphaCode: 89842
DisorderType: Disease
Name: Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
OrphaCode: 95455
DisorderType: Disease
Name: Tyrosinemia type 2
OrphaCode: 28378
DisorderType: Disease
Name: Megalocornea-intellectual disability syndrome
OrphaCode: 2479
DisorderType: Malformation syndrome
Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Rare lens disease
OrphaCode: 98639
DisorderType: Category
Children: Name: Rare disorder with lens opacification
OrphaCode: 98640
DisorderType: Category
Children: Name: Early onset non-syndromic cataract
OrphaCode: 91492
DisorderType: Disease
Children: Name: Early-onset partial cataract
OrphaCode: 98992
DisorderType: Clinical subtype
Children: Name: Pulverulent cataract
OrphaCode: 98984
DisorderType: Clinical subtype
Name: Early-onset anterior polar cataract
OrphaCode: 98988
DisorderType: Clinical subtype
Name: Cerulean cataract
OrphaCode: 98989
DisorderType: Clinical subtype
Name: Coralliform cataract
OrphaCode: 98990
DisorderType: Clinical subtype
Name: Early-onset posterior polar cataract
OrphaCode: 98993
DisorderType: Clinical subtype
Name: Early-onset zonular cataract
OrphaCode: 98995
DisorderType: Clinical subtype
Children: Name: Early-onset sutural cataract
OrphaCode: 98985
DisorderType: Clinical subtype
Name: Early-onset nuclear cataract
OrphaCode: 98991
DisorderType: Clinical subtype
Name: Early-onset lamellar cataract
OrphaCode: 441452
DisorderType: Clinical subtype
Name: Early-onset posterior subcapsular cataract
OrphaCode: 441447
DisorderType: Clinical subtype
Name: Total early-onset cataract
OrphaCode: 98994
DisorderType: Clinical subtype
Name: Syndromic cataract
OrphaCode: 98641
DisorderType: Category
Children: Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Cataract-aberrant oral frenula-growth delay syndrome
OrphaCode: 1373
DisorderType: Malformation syndrome
Name: Hereditary hyperferritinemia-cataract syndrome
OrphaCode: 163
DisorderType: Disease
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Cataract-microcornea syndrome
OrphaCode: 1377
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Hypergonadotropic hypogonadism-cataract syndrome
OrphaCode: 2410
DisorderType: Malformation syndrome
Name: Nathalie syndrome
OrphaCode: 2663
DisorderType: Malformation syndrome
Name: Cochleosaccular degeneration-cataract syndrome
OrphaCode: 3233
DisorderType: Malformation syndrome
Name: Aymé-Gripp syndrome
OrphaCode: 1272
DisorderType: Malformation syndrome
Name: Congenital cataract-anterior segment dysgenesis syndrome
OrphaCode: 162
DisorderType: Malformation syndrome
Name: Hypomyelination-congenital cataract syndrome
OrphaCode: 85163
DisorderType: Malformation syndrome
Name: Persistent hyperplastic primary vitreous
OrphaCode: 91495
DisorderType: Disease
Name: Chromosomal anomaly with cataract
OrphaCode: 98642
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Monosomy 5p
OrphaCode: 281
DisorderType: Malformation syndrome
Name: Monosomy 18p
OrphaCode: 1598
DisorderType: Disease
Name: Monosomy 18q
OrphaCode: 1600
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Trisomy 9p
OrphaCode: 236
DisorderType: Malformation syndrome
Name: 21q deletion syndrome
OrphaCode: 574
DisorderType: Malformation syndrome
Name: Monosomy 13q14
OrphaCode: 1587
DisorderType: Malformation syndrome
Name: Distal deletion 13q
OrphaCode: 1590
DisorderType: Malformation syndrome
Name: Non-distal duplication 10q
OrphaCode: 1695
DisorderType: Malformation syndrome
Name: Trisomy 5p
OrphaCode: 1742
DisorderType: Malformation syndrome
Name: Tetrasomy 5p
OrphaCode: 3309
DisorderType: Malformation syndrome
Name: Distal duplication 2p
OrphaCode: 96070
DisorderType: Malformation syndrome
Name: 3q26 microduplication syndrome
OrphaCode: 96095
DisorderType: Malformation syndrome
Name: Distal duplication 10q
OrphaCode: 96102
DisorderType: Malformation syndrome
Name: Monosomy 13q34
OrphaCode: 96168
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: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Triploidy
OrphaCode: 3376
DisorderType: Malformation syndrome
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Juvenile cataract-microcornea-renal glucosuria syndrome
OrphaCode: 247794
DisorderType: Disease
Name: MRCS syndrome
OrphaCode: 263347
DisorderType: Disease
Name: Congenital cataract microcornea with corneal opacity
OrphaCode: 289499
DisorderType: Malformation syndrome
Name: Congenital cataract-hearing loss-severe developmental delay syndrome
OrphaCode: 300313
DisorderType: Disease
Name: Cataract-congenital heart disease-neural tube defect syndrome
OrphaCode: 314993
DisorderType: Malformation syndrome
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: Autosomal dominant spastic paraplegia type 9A
OrphaCode: 447753
DisorderType: Disease
Name: Metabolic disease with cataract
OrphaCode: 98644
DisorderType: Category
Children: Name: Alpha-mannosidosis
OrphaCode: 61
DisorderType: Disease
Children: Name: Alpha-mannosidosis, infantile form
OrphaCode: 309282
DisorderType: Clinical subtype
Name: Alpha-mannosidosis, adult form
OrphaCode: 309288
DisorderType: Clinical subtype
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Galactosemia
OrphaCode: 352
DisorderType: Category
Children: Name: Galactokinase deficiency
OrphaCode: 79237
DisorderType: Disease
Name: Galactose epimerase deficiency
OrphaCode: 79238
DisorderType: Disease
Children: Name: Erythrocyte galactose epimerase deficiency
OrphaCode: 308473
DisorderType: Clinical subtype
Name: Generalized galactose epimerase deficiency
OrphaCode: 308487
DisorderType: Clinical subtype
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Galactose mutarotase deficiency
OrphaCode: 570422
DisorderType: Disease
Name: Refsum disease
OrphaCode: 773
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: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
OrphaCode: 445038
DisorderType: Disease
Name: Gyrate atrophy of choroid and retina
OrphaCode: 414
DisorderType: Disease
Name: Fatty acyl-CoA reductase 1 deficiency
OrphaCode: 438178
DisorderType: Disease
Name: Neutral lipid storage disease with ichthyosis
OrphaCode: 98907
DisorderType: Disease
Name: 3-methylglutaconic aciduria type 4
OrphaCode: 67048
DisorderType: Disease
Name: ALG2-CDG
OrphaCode: 79326
DisorderType: Disease
Name: ALG8-CDG
OrphaCode: 79325
DisorderType: Disease
Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
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: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Spastic paraparesis-cataracts-speech delay syndrome
OrphaCode: 615938
DisorderType: Clinical syndrome
Name: Renal disease with cataract
OrphaCode: 98646
DisorderType: Category
Children: Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Musculoskeletal disease with cataract
OrphaCode: 98648
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: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
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: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Dentocutaneous disease with cataract
OrphaCode: 98649
DisorderType: Category
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Rothmund-Thomson syndrome
OrphaCode: 2909
DisorderType: Disease
Children: Name: Rothmund-Thomson syndrome type 1
OrphaCode: 221008
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: Craniofacial anomaly with cataract
OrphaCode: 98650
DisorderType: Category
Children: Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
OrphaCode: 1369
DisorderType: Disease
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Behr syndrome
OrphaCode: 1239
DisorderType: Malformation syndrome
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Absence deformity of leg-cataract syndrome
OrphaCode: 2310
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Alpha-N-acetylgalactosaminidase deficiency
OrphaCode: 3137
DisorderType: Disease
Children: Name: Alpha-N-acetylgalactosaminidase deficiency type 3
OrphaCode: 79281
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 2
OrphaCode: 79280
DisorderType: Clinical subtype
Name: Alpha-N-acetylgalactosaminidase deficiency type 1
OrphaCode: 79279
DisorderType: Clinical subtype
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Autosomal recessive cerebelloparenchymal disorder type 3
OrphaCode: 1170
DisorderType: Disease
Name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
OrphaCode: 1366
DisorderType: Disease
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Cardiomyopathy-cataract-hip spine disease syndrome
OrphaCode: 1345
DisorderType: Disease
Name: Cataract-ataxia-deafness syndrome
OrphaCode: 1368
DisorderType: Disease
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Cataract-nephropathy-encephalopathy syndrome
OrphaCode: 1380
DisorderType: Malformation syndrome
Name: Blomstrand lethal chondrodysplasia
OrphaCode: 50945
DisorderType: Malformation syndrome
Name: Cloverleaf skull-multiple congenital anomalies syndrome
OrphaCode: 93267
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
OrphaCode: 1875
DisorderType: Disease
Name: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OrphaCode: 2772
DisorderType: Malformation syndrome
Name: Congenital rubella syndrome
OrphaCode: 290
DisorderType: Disease
Name: Craniolenticulosutural dysplasia
OrphaCode: 50814
DisorderType: Malformation syndrome
Name: Cyprus facial-neuromusculoskeletal syndrome
OrphaCode: 2674
DisorderType: Malformation syndrome
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
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: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Ectopia lentis-chorioretinal dystrophy-myopia syndrome
OrphaCode: 1884
DisorderType: Disease
Name: Erythrokeratodermia variabilis
OrphaCode: 317
DisorderType: Disease
Name: Familial isolated hypoparathyroidism
OrphaCode: 2238
DisorderType: Disease
Children: Name: Familial isolated hypoparathyroidism due to impaired PTH secretion
OrphaCode: 189466
DisorderType: Clinical subtype
Name: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
OrphaCode: 2239
DisorderType: Clinical subtype
Name: Autosomal dominant hypocalcemia
OrphaCode: 428
DisorderType: Clinical subtype
Name: Congenital varicella syndrome
OrphaCode: 291
DisorderType: Disease
Name: Flynn-Aird syndrome
OrphaCode: 2047
DisorderType: Disease
Name: Foveal hypoplasia-presenile cataract syndrome
OrphaCode: 2253
DisorderType: Disease
Name: Harrod syndrome
OrphaCode: 2115
DisorderType: Malformation syndrome
Name: Hereditary mucoepithelial dysplasia
OrphaCode: 1839
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia
OrphaCode: 189
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Infantile spasms-broad thumbs syndrome
OrphaCode: 3173
DisorderType: Disease
Name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
OrphaCode: 3042
DisorderType: Malformation syndrome
Name: Leber congenital amaurosis
OrphaCode: 65
DisorderType: Disease
Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Relapsing polychondritis
OrphaCode: 728
DisorderType: Disease
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Siegler-Brewer-Carey syndrome
OrphaCode: 3167
DisorderType: Malformation syndrome
Name: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
OrphaCode: 478049
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
OrphaCode: 488168
DisorderType: Malformation syndrome
Name: Spastic ataxia-corneal dystrophy syndrome
OrphaCode: 2572
DisorderType: Disease
Name: Tricho-retino-dento-digital syndrome
OrphaCode: 1264
DisorderType: Malformation syndrome
Name: Upper limb defect-eye and ear abnormalities syndrome
OrphaCode: 2489
DisorderType: Malformation syndrome
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Epidermal nevus syndrome
OrphaCode: 35125
DisorderType: Disease
Name: Blau syndrome
OrphaCode: 90340
DisorderType: Disease
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Armfield type
OrphaCode: 85276
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Basel-Vanagaite-Smirin-Yosef syndrome
OrphaCode: 464738
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: X-linked retinoschisis
OrphaCode: 792
DisorderType: Malformation syndrome
Name: Vogt-Koyanagi-Harada disease
OrphaCode: 3437
DisorderType: Disease
Name: Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
OrphaCode: 500545
DisorderType: Disease
Name: Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
OrphaCode: 521432
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Congenital muscular dystrophy-cataract-intellectual disability syndrome
OrphaCode: 662184
DisorderType: Disease
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Lens size anomaly
OrphaCode: 98652
DisorderType: Category
Children: Name: Isolated microspherophakia
OrphaCode: 519396
DisorderType: Morphological anomaly
Name: Syndromic microspherophakia
OrphaCode: 519294
DisorderType: Category
Children: Name: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
OrphaCode: 2084
DisorderType: Malformation syndrome
Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
OrphaCode: 363992
DisorderType: Disease
Name: Autosomal dominant vitreoretinochoroidopathy
OrphaCode: 3086
DisorderType: Disease
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Lens position anomaly
OrphaCode: 98653
DisorderType: Category
Children: Name: Syndromic ectopia lentis
OrphaCode: 519292
DisorderType: Category
Children: Name: Blindness-scoliosis-arachnodactyly syndrome
OrphaCode: 171844
DisorderType: Malformation syndrome
Name: Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
OrphaCode: 231736
DisorderType: Malformation syndrome
Name: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
OrphaCode: 412022
DisorderType: Malformation syndrome
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
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: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Epidermolysis bullosa simplex with anodontia/hypodontia
OrphaCode: 2325
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
OrphaCode: 2084
DisorderType: Malformation syndrome
Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Blepharoptosis-myopia-ectopia lentis syndrome
OrphaCode: 1259
DisorderType: Disease
Name: Isolated ectopia lentis
OrphaCode: 1885
DisorderType: Malformation syndrome
Name: Lens shape anomaly
OrphaCode: 98655
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
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: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Congenital primary aphakia
OrphaCode: 83461
DisorderType: Malformation syndrome
Name: Coloboma of eye lens
OrphaCode: 98943
DisorderType: Morphological anomaly
Name: Rare disorder of the pupil
OrphaCode: 519286
DisorderType: Category
Children: Name: Oculocerebrorenal syndrome of Lowe
OrphaCode: 534
DisorderType: Malformation syndrome
Name: Refsum disease
OrphaCode: 773
DisorderType: Disease
Name: Trisomy 9p
OrphaCode: 236
DisorderType: Malformation syndrome
Name: Multisystemic smooth muscle dysfunction syndrome
OrphaCode: 404463
DisorderType: Disease
Name: Holmes-Adie syndrome
OrphaCode: 454718
DisorderType: Disease
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Ectopia lentis-chorioretinal dystrophy-myopia syndrome
OrphaCode: 1884
DisorderType: Disease
Name: Hirschsprung disease-ganglioneuroblastoma syndrome
OrphaCode: 2151
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Ptosis-strabismus-ectopic pupils syndrome
OrphaCode: 2999
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Spastic ataxia with congenital miosis
OrphaCode: 1182
DisorderType: Disease
Name: Unilateral ocular duplication
OrphaCode: 3374
DisorderType: Morphological anomaly
Name: X-linked corneal dermoid
OrphaCode: 1661
DisorderType: Disease
Name: Congenital Horner syndrome
OrphaCode: 91413
DisorderType: Disease
Name: Botulism
OrphaCode: 1267
DisorderType: Disease
Children: Name: Inhalational botulism
OrphaCode: 254504
DisorderType: Clinical subtype
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: Adult intestinal botulism
OrphaCode: 178487
DisorderType: Clinical subtype
Name: Infant botulism
OrphaCode: 178478
DisorderType: Clinical subtype
Name: Iatrogenic botulism
OrphaCode: 254509
DisorderType: Clinical subtype
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: Familial dysautonomia
OrphaCode: 1764
DisorderType: Disease
Name: Stormorken-Sjaastad-Langslet syndrome
OrphaCode: 3204
DisorderType: Disease
Name: Anterior segment developmental anomaly
OrphaCode: 88632
DisorderType: Category
Children: Name: Anterior segment developmental abnormality with extraocular manifestations
OrphaCode: 519276
DisorderType: Category
Children: Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: GMS syndrome
OrphaCode: 2090
DisorderType: Malformation syndrome
Name: Pierson syndrome
OrphaCode: 2670
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Syndromic aniridia
OrphaCode: 98557
DisorderType: Category
Children: Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Aniridia-cerebellar ataxia-intellectual disability syndrome
OrphaCode: 1065
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Aniridia-absent patella syndrome
OrphaCode: 1069
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
OrphaCode: 139450
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Jung syndrome
OrphaCode: 2321
DisorderType: Malformation syndrome
Name: Anterior segment developmental anomaly without extraocular manifestations
OrphaCode: 98634
DisorderType: Category
Children: Name: Bilateral acute depigmentation of the iris
OrphaCode: 69736
DisorderType: Disease
Name: Axenfeld anomaly
OrphaCode: 98978
DisorderType: Morphological anomaly
Name: Peters anomaly
OrphaCode: 708
DisorderType: Morphological anomaly
Name: Autosomal recessive anterior segment dysgenesis
OrphaCode: 519388
DisorderType: Malformation syndrome
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Rieger anomaly
OrphaCode: 91483
DisorderType: Morphological anomaly
Name: Congenital microcoria
OrphaCode: 566
DisorderType: Malformation syndrome
Name: Congenital ectropion uveae
OrphaCode: 91491
DisorderType: Malformation syndrome
Name: Coloboma of iris
OrphaCode: 98944
DisorderType: Morphological anomaly
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Isolated iridoschisis
OrphaCode: 519392
DisorderType: Disease