Phenotype: Ptosis (HP:0000508)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: MUSK
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: MUSK
disease_id: OMIM:616325
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: MUSK
disease_id: OMIM:208150
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 1
gene_symbol: MUSK
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNE
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRNE
disease_id: OMIM:616324
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL
gene_symbol: CHRNE
disease_id: OMIM:605809
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
gene_symbol: CHRNE
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: GFPT1
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: GFPT1
disease_id: OMIM:610542
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 12
gene_symbol: GFPT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CHRND
disease_id: OMIM:616322
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL
gene_symbol: CHRND
disease_id: OMIM:616321
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL
gene_symbol: CHRND
disease_id: OMIM:616323
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRND
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: RAPSN
disease_id: OMIM:616326
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: RAPSN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CDK8
disease_id: OMIM:618748
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
gene_symbol: SZT2
disease_id: OMIM:615476
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18
gene_symbol: SZT2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: TFAP2B
disease_id: OMIM:169100
disease_name: CHAR SYNDROME
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: FGFR3
disease_id: ORPHA:53271
disease_name: Muenke syndrome
gene_symbol: FGFR3
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR3
disease_id: ORPHA:93262
disease_name: Crouzon syndrome-acanthosis nigricans syndrome
Crouzon-dermoskeletal syndrome
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: CHRNA1
disease_id: OMIM:608930
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
gene_symbol: CHRNA1
disease_id: OMIM:601462
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
gene_symbol: CHRNA1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: TMEM67
disease_id: OMIM:602152
disease_name: RHYNS SYNDROME
gene_symbol: TMEM67
disease_id: OMIM:216360
disease_name: COACH SYNDROME 1
gene_symbol: TMEM67
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: TMEM67
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM67
disease_id: ORPHA:140976
disease_name: RHYNS syndrome
Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: MRPS34
disease_id: OMIM:617664
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
gene_symbol: SNAP25
disease_id: OMIM:616330
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 18
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: NOP56
disease_id: OMIM:614153
disease_name: SPINOCEREBELLAR ATAXIA 36
gene_symbol: NOP56
disease_id: ORPHA:276198
disease_name: Spinocerebellar ataxia type 36
Asidan
SCA36
gene_symbol: RPGRIP1L
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: RPGRIP1L
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: RPGRIP1L
disease_id: OMIM:619113
disease_name: COACH SYNDROME 3
gene_symbol: RPGRIP1L
disease_id: OMIM:611560
disease_name: JOUBERT SYNDROME 7
gene_symbol: NPHP1
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: TMEM237
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: TMEM237
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM237
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: MEN1
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: CDH23
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: AIP
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: PACS1
disease_id: OMIM:615009
disease_name: SCHUURS-HOEIJMAKERS SYNDROME
gene_symbol: AHI1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: AHI1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: AHI1
disease_id: OMIM:608629
disease_name: JOUBERT SYNDROME 3
gene_symbol: INPP5E
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: INPP5E
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: INPP5E
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP120
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP120
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MKS1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: MKS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: CEP41
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP41
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: HMGB3
disease_id: OMIM:300915
disease_name: MICROPHTHALMIA, SYNDROMIC 13
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
gene_symbol: CHD7
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: CHD7
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SEMA3E
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: TH
disease_id: OMIM:605407
disease_name: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: TH
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: FAM149B1
disease_id: OMIM:618763
disease_name: JOUBERT SYNDROME 36
gene_symbol: RRM2B
disease_id: OMIM:613077
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: RRM2B
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: BCOR
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: KAT6A
disease_id: ORPHA:457193
disease_name: KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
Arboleda-Tham syndrome
KAT6A syndrome
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: AFG3L2
disease_id: ORPHA:313772
disease_name: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
SPAX5
gene_symbol: AFG3L2
disease_id: ORPHA:101109
disease_name: Spinocerebellar ataxia type 28
SCA28
gene_symbol: AFG3L2
disease_id: OMIM:610246
disease_name: SPINOCEREBELLAR ATAXIA 28
gene_symbol: AFG3L2
disease_id: OMIM:614487
disease_name: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
gene_symbol: MYH2
disease_id: OMIM:605637
disease_name: MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA
gene_symbol: PDGFRB
disease_id: OMIM:616592
disease_name: KOSAKI OVERGROWTH SYNDROME
gene_symbol: PRDX3
disease_id: OMIM:619862
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32
gene_symbol: PPP2R5D
disease_id: OMIM:616355
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
gene_symbol: B9D2
disease_id: OMIM:614175
disease_name: MECKEL SYNDROME, TYPE 10
gene_symbol: B9D2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: KRAS
disease_id: OMIM:615278
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 2
gene_symbol: KRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: MAP2K2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAP2K2
disease_id: ORPHA:638
disease_name: Neurofibromatosis-Noonan syndrome
NFNS
Neurofibromatosis type 1-Noonan syndrome
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BCAS3
disease_id: OMIM:619641
disease_name: HENGEL-MAROOFIAN-SCHOLS SYNDROME
gene_symbol: SCN4A
disease_id: OMIM:614198
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 16
gene_symbol: SCN4A
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: SCN4A
disease_id: OMIM:620351
disease_name: CONGENITAL MYOPATHY 22A, CLASSIC
gene_symbol: UGDH
disease_id: OMIM:618792
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
gene_symbol: LGI4
disease_id: OMIM:617468
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: FGFR2
disease_id: ORPHA:1555
disease_name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
gene_symbol: FGFR2
disease_id: ORPHA:1540
disease_name: Jackson-Weiss syndrome
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
JWS
gene_symbol: TET3
disease_id: OMIM:618798
disease_name: BECK-FAHRNER SYNDROME
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
gene_symbol: KIF5A
disease_id: OMIM:617235
disease_name: MYOCLONUS, INTRACTABLE, NEONATAL
gene_symbol: SLC18A3
disease_id: OMIM:617239
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: RRM1
disease_id: OMIM:620647
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SLCO2A1
disease_id: OMIM:167100
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: SLCO2A1
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: FOXC2
disease_id: ORPHA:33001
disease_name: Lymphedema-distichiasis syndrome
gene_symbol: FOXC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS20
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ADA2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ALX3
disease_id: ORPHA:391474
disease_name: Frontorhiny
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: ORPHA:592574
disease_name: Menke-Hennekam syndrome
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
gene_symbol: MYL2
disease_id: OMIM:619424
disease_name: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
gene_symbol: ECEL1
disease_id: OMIM:615065
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5D
gene_symbol: FAR1
disease_id: OMIM:616154
disease_name: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
gene_symbol: FAR1
disease_id: ORPHA:438178
disease_name: Fatty acyl-CoA reductase 1 deficiency
FAR1 deficiency
PFCRD
Peroxisomal fatty acyl-CoA reductase 1 disorder
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: TGFBR1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PAX7
disease_id: OMIM:618578
disease_name: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
gene_symbol: MYMK
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
gene_symbol: PURA
disease_id: ORPHA:314655
disease_name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
5q31.3 microdeletion syndrome
Del(5)(q31.3)
Monosomy 5q31.3
gene_symbol: TWIST1
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: IGF1
disease_id: ORPHA:73272
disease_name: Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-deafness-intellectual disability syndrome
Growth delay-hearing loss-intellectual disability syndrome
IGF-1 deficiency
Primary insulin-like growth factor deficiency
gene_symbol: IGF1
disease_id: OMIM:608747
disease_name: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY
gene_symbol: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: SLC25A4
disease_id: OMIM:609283
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: POLG
disease_id: ORPHA:254881
disease_name: Spinocerebellar ataxia with epilepsy
MSCAE
Mitochondrial spinocerebellar ataxia with epilepsy
SCAE
gene_symbol: POLG
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: POLG
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: POLG
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: POLG
disease_id: OMIM:157640
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: TWNK
disease_id: OMIM:609286
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG2
disease_id: OMIM:610131
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: LONP1
disease_id: ORPHA:1458
disease_name: CODAS syndrome
Cerebrooculodentoauriculoskeletal syndrome
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: GFER
disease_id: ORPHA:330054
disease_name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: TK2
disease_id: OMIM:617069
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3
gene_symbol: MGME1
disease_id: OMIM:615084
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 11
gene_symbol: MGME1
disease_id: ORPHA:352447
disease_name: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
PEO-myopathy-emaciation syndrome
mtDNA maintenance syndrome due to MGME1 deficiency
gene_symbol: HECW2
disease_id: OMIM:617268
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
gene_symbol: RERE
disease_id: ORPHA:494344
disease_name: RERE-related neurodevelopmental syndrome
gene_symbol: REV3L
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: PLXND1
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: RAB3GAP1
disease_id: OMIM:600118
disease_name: WARBURG MICRO SYNDROME 1
gene_symbol: ACKR3
disease_id: OMIM:619215
disease_name: OCULOMOTOR-ABDUCENS SYNKINESIS
gene_symbol: DBH
disease_id: OMIM:223360
disease_name: ORTHOSTATIC HYPOTENSION 1
gene_symbol: SMARCC2
disease_id: OMIM:618362
disease_name: COFFIN-SIRIS SYNDROME 8
gene_symbol: SMARCC2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:1727
disease_name: 22q11.2 duplication syndrome
22q11.2 microduplication syndrome
Dup(22)(q11)
Duplication 22q11.2
Trisomy 22q11.2
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: PTS
disease_id: ORPHA:13
disease_name: 6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: ERBB2
disease_id: OMIM:619465
disease_name: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE
gene_symbol: UBA1
disease_id: OMIM:301830
disease_name: SPINAL MUSCULAR ATROPHY, X-LINKED 2
gene_symbol: SUCLG1
disease_id: ORPHA:17
disease_name: Fatal infantile lactic acidosis with methylmalonic aciduria
gene_symbol: ERBB3
disease_id: OMIM:243180
disease_name: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: IPO8
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: GRIA3
disease_id: ORPHA:364028
disease_name: X-linked intellectual disability due to GRIA3 mutations
gene_symbol: NOTCH2NLC
disease_id: OMIM:619473
disease_name: OCULOPHARYNGODISTAL MYOPATHY 3
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
gene_symbol: MED12
disease_id: OMIM:309520
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: HPGD
disease_id: OMIM:259100
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
gene_symbol: HPGD
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: PIEZO2
disease_id: OMIM:114300
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 3
gene_symbol: PIEZO2
disease_id: ORPHA:1154
disease_name: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: PIEZO2
disease_id: ORPHA:2461
disease_name: Marden-Walker syndrome
gene_symbol: PTPN11
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: PTPN11
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
gene_symbol: PTPN11
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: BRAF
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: RAF1
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: RAF1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: OMIM:611553
disease_name: NOONAN SYNDROME 5
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: HNRNPA2B1
disease_id: OMIM:620460
disease_name: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: MYF5
disease_id: OMIM:618155
disease_name: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
gene_symbol: TPM2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: ARL3
disease_id: OMIM:618161
disease_name: JOUBERT SYNDROME 35
gene_symbol: ARL3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PHYH
disease_id: ORPHA:773
disease_name: Refsum disease
Adult Refsum disease
Classic Refsum disease
HMSN 4
HMSN IV
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type IV
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency
gene_symbol: PHYH
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: PEX7
disease_id: ORPHA:773
disease_name: Refsum disease
Adult Refsum disease
Classic Refsum disease
HMSN 4
HMSN IV
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type IV
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency
gene_symbol: PEX7
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: EDEM3
disease_id: OMIM:619493
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v
gene_symbol: DGUOK
disease_id: OMIM:617070
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
gene_symbol: GBA1
disease_id: ORPHA:2072
disease_name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: SCO2
disease_id: ORPHA:521411
disease_name: Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive axonal CMT due to copper metabolism defect
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SCO2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ADPRS
disease_id: OMIM:618170
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
gene_symbol: LRP4
disease_id: ORPHA:3152
disease_name: Sclerosteosis
Cortical hyperostosis-syndactyly syndrome
gene_symbol: LRP4
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: LRP4
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: LRP4
disease_id: OMIM:616304
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 17
gene_symbol: SOST
disease_id: ORPHA:3152
disease_name: Sclerosteosis
Cortical hyperostosis-syndactyly syndrome
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: TGFB2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: SMC1A
disease_id: OMIM:300590
disease_name: CORNELIA DE LANGE SYNDROME 2
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SLC6A8
disease_id: OMIM:300352
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 1
gene_symbol: SLC6A8
disease_id: ORPHA:52503
disease_name: X-linked creatine transporter deficiency
Creatine transporter deficiency
SLC6A8 deficiency
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
gene_symbol: KIFBP
disease_id: ORPHA:66629
disease_name: Goldberg-Shprintzen megacolon syndrome
GOSHS
Megacolon-microcephaly syndrome
gene_symbol: SPRED1
disease_id: OMIM:611431
disease_name: LEGIUS SYNDROME
gene_symbol: SPRED1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
gene_symbol: CACNA2D1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FUS
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: SQSTM1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: VCP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TARDBP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TBK1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: CHCHD10
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: CHCHD10
disease_id: OMIM:615911
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
gene_symbol: ZEB2
disease_id: OMIM:235730
disease_name: MOWAT-WILSON SYNDROME
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: UBE3B
disease_id: OMIM:244450
disease_name: KAUFMAN OCULOCEREBROFACIAL SYNDROME
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: NPTX1
disease_id: OMIM:620158
disease_name: SPINOCEREBELLAR ATAXIA 50
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: TUBB3
disease_id: OMIM:600638
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: RYR1
disease_id: OMIM:255320
disease_name: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
gene_symbol: RYR1
disease_id: ORPHA:98905
disease_name: Congenital multicore myopathy with external ophthalmoplegia
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: RYR1
disease_id: ORPHA:424107
disease_name: Congenital myopathy with myasthenic-like onset
gene_symbol: RYR1
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: DARS2
disease_id: ORPHA:137898
disease_name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: VAMP1
disease_id: OMIM:108600
disease_name: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:251282
disease_name: Autosomal dominant spastic ataxia type 1
SPAX1
gene_symbol: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: TOGARAM1
disease_id: OMIM:619185
disease_name: JOUBERT SYNDROME 37
gene_symbol: TOGARAM1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MICU1
disease_id: ORPHA:401768
disease_name: Proximal myopathy with extrapyramidal signs
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: TOP3A
disease_id: OMIM:618098
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: UBR7
disease_id: OMIM:619189
disease_name: LI-CAMPEAU SYNDROME
gene_symbol: TPM3
disease_id: OMIM:255310
disease_name: MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TFAP2A
disease_id: ORPHA:1297
disease_name: Branchio-oculo-facial syndrome
BOFS
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: NSD2
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: PIGL
disease_id: ORPHA:3474
disease_name: CHIME syndrome
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: SLC52A3
disease_id: OMIM:211500
disease_name: FAZIO-LONDE DISEASE
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: SEPTIN9
disease_id: OMIM:162100
disease_name: AMYOTROPHY, HEREDITARY NEURALGIC
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: SLC19A3
disease_id: OMIM:607483
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)
gene_symbol: DLAT
disease_id: OMIM:245348
disease_name: PYRUVATE DEHYDROGENASE E2 DEFICIENCY
gene_symbol: MTMR14
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: MTMR14
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: DNM2
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: DNM2
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: DPAGT1
disease_id: OMIM:614750
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 13
gene_symbol: DPAGT1
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: SMARCE1
disease_id: OMIM:616938
disease_name: COFFIN-SIRIS SYNDROME 5
gene_symbol: SMARCE1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: PABPN1
disease_id: OMIM:164300
disease_name: OCULOPHARYNGEAL MUSCULAR DYSTROPHY
gene_symbol: PABPN1
disease_id: ORPHA:270
disease_name: Oculopharyngeal muscular dystrophy
OPMD
gene_symbol: ZC4H2
disease_id: ORPHA:3454
disease_name: Wieacker-Wolff syndrome
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
gene_symbol: ZC4H2
disease_id: OMIM:301041
disease_name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: PEX26
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX19
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX2
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX3
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX16
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX6
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX11B
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX5
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX1
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX12
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX13
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX14
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX10
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: FGFR1
disease_id: ORPHA:2117
disease_name: Hartsfield syndrome
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
gene_symbol: FGFR1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HK1
disease_id: OMIM:605285
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE
gene_symbol: PHIP
disease_id: ORPHA:589905
disease_name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Chung-Jansen syndrome
DIDOD
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: NSD1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: OMIM:613563
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: MAPK1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: PROX1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SVEP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ANGPT2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NF1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NF1
disease_id: OMIM:601321
disease_name: NEUROFIBROMATOSIS-NOONAN SYNDROME
gene_symbol: NF1
disease_id: ORPHA:638
disease_name: Neurofibromatosis-Noonan syndrome
NFNS
Neurofibromatosis type 1-Noonan syndrome
gene_symbol: RAC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FAT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: EPHB4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: ABCC9
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PMM2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: DCHS1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: CELSR1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MRAS
disease_id: OMIM:618499
disease_name: NOONAN SYNDROME 11
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RELN
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CDC42
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: CDC42
disease_id: ORPHA:487796
disease_name: Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
gene_symbol: PIEZO1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRAS
disease_id: OMIM:613224
disease_name: NOONAN SYNDROME 6
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: GATA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RORC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOS1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOS1
disease_id: OMIM:610733
disease_name: NOONAN SYNDROME 4
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NAGA
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: LYVE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SHOC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SHOC2
disease_id: OMIM:607721
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
gene_symbol: RRAS2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SPRED2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KIF11
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KIF11
disease_id: ORPHA:2526
disease_name: Microcephaly-lymphedema-chorioretinopathy syndrome
MLCRD
gene_symbol: RIT1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RIT1
disease_id: OMIM:615355
disease_name: NOONAN SYNDROME 8
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: FLT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ARAP3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOX18
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PPP1CB
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: GJC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJC2
disease_id: ORPHA:568051
disease_name: GJC2-related late-onset primary lymphedema
gene_symbol: TSC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TIE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ADAMTS3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ERG
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAP2K1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: SOS2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOS2
disease_id: OMIM:616559
disease_name: NOONAN SYNDROME 9
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SHANK3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: FBXL7
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MDFIC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CHD5
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: VEGFC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CCBE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJA1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PTPN14
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KIF7
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOX11
disease_id: OMIM:615866
disease_name: COFFIN-SIRIS SYNDROME 9
gene_symbol: SOX11
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: RNASEH2A
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2C
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: SAMHD1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2B
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: ADAR
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: TREX1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNU7-1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: LSM11
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: IFIH1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: PAX6
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: WT1
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: SMAD4
disease_id: ORPHA:2588
disease_name: Myhre syndrome
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre-LAPS syndrome
Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: FGD1
disease_id: ORPHA:915
disease_name: Aarskog-Scott syndrome
Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: COL13A1
disease_id: OMIM:616720
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 19
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
gene_symbol: CEP290
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
gene_symbol: CSPP1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: COL25A1
disease_id: OMIM:616219
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: NEFL
disease_id: OMIM:607684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
gene_symbol: KDM1A
disease_id: OMIM:616728
disease_name: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: NOTCH3
disease_id: OMIM:130720
disease_name: LATERAL MENINGOCELE SYNDROME
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: PDHA1
disease_id: OMIM:312170
disease_name: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
gene_symbol: YAP1
disease_id: ORPHA:1473
disease_name: Uveal coloboma-cleft lip and palate-intellectual disability
gene_symbol: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: SMARCA4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
gene_symbol: SMARCB1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCB1
disease_id: OMIM:614608
disease_name: COFFIN-SIRIS SYNDROME 3
gene_symbol: SOX4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1A
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1A
disease_id: OMIM:614607
disease_name: COFFIN-SIRIS SYNDROME 2
gene_symbol: DPF2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCD1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1B
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: ARID2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: RBCK1
disease_id: OMIM:615895
disease_name: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: GRM1
disease_id: ORPHA:324262
disease_name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive spinocerebellar ataxia type 13
SCAR13
gene_symbol: GRM1
disease_id: OMIM:614831
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
gene_symbol: ESCO2
disease_id: ORPHA:2319
disease_name: Juberg-Hayward syndrome
Cleft lip/palate-abnormal thumbs-microcephaly syndrome
Orocraniodigital syndrome
gene_symbol: ESCO2
disease_id: OMIM:216100
disease_name: JUBERG-HAYWARD SYNDROME
gene_symbol: TMEM231
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM138
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: ZNF423
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM216
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: TGIF1
disease_id: OMIM:142946
disease_name: HOLOPROSENCEPHALY 4
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: TBC1D20
disease_id: OMIM:615663
disease_name: WARBURG MICRO SYNDROME 4
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: ACTB
disease_id: OMIM:243310
disease_name: BARAITSER-WINTER SYNDROME 1
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: OMIM:300882
disease_name: CORNELIA DE LANGE SYNDROME 5
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: GIPC1
disease_id: OMIM:618940
disease_name: OCULOPHARYNGODISTAL MYOPATHY 2
gene_symbol: ACTG1
disease_id: OMIM:614583
disease_name: BARAITSER-WINTER SYNDROME 2
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: CHAT
disease_id: OMIM:254210
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CLTC
disease_id: OMIM:617854
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
gene_symbol: CLTC
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: TYMP
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: SPR
disease_id: ORPHA:70594
disease_name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
Autosomal recessive sepiapterin reductase-deficient DRD
DRD due to SRD
SPR deficiency
Sepiapterin reductase deficiency
gene_symbol: GPRASP2
disease_id: OMIM:301018
disease_name: DEAFNESS, X-LINKED 7
gene_symbol: MRPS28
disease_id: OMIM:618958
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
gene_symbol: ARMC9
disease_id: OMIM:617622
disease_name: JOUBERT SYNDROME 30
gene_symbol: ARMC9
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: GATA3
disease_id: OMIM:146255
disease_name: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC5A7
disease_id: OMIM:617143
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: OMIM:618198
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: OMIM:618197
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: OMIM:615120
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 8
gene_symbol: AGRN
disease_id: OMIM:254300
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 10
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COLQ
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: COLQ
disease_id: OMIM:603034
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 5
gene_symbol: LAMB2
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: CHRNB1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNB1
disease_id: OMIM:616313
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
gene_symbol: AK9
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: DOK7
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: DOK7
disease_id: OMIM:254300
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 10
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: KATNIP
disease_id: OMIM:616784
disease_name: JOUBERT SYNDROME 26
gene_symbol: KATNIP
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CYC1
disease_id: OMIM:615453
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: SLC17A5
disease_id: OMIM:269920
disease_name: INFANTILE SIALIC ACID STORAGE DISEASE
gene_symbol: ABHD5
disease_id: ORPHA:98907
disease_name: Neutral lipid storage disease with ichthyosis
CDS
Chanarin-Dorfman syndrome
DCS
Dorfman-Chanarin syndrome
NLSDI
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: NDUFS4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MYO18B
disease_id: OMIM:616549
disease_name: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
gene_symbol: MYH3
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: MYH3
disease_id: OMIM:618436
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B3
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
gene_symbol: MYH3
disease_id: ORPHA:2053
disease_name: Freeman-Sheldon syndrome
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
gene_symbol: CHRNG
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: PIK3CA
disease_id: OMIM:606773
disease_name: HEMIFACIAL MYOHYPERPLASIA
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: DHX37
disease_id: OMIM:618731
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
gene_symbol: SIX2
disease_id: ORPHA:488437
disease_name: SIX2-related frontonasal dysplasia
SIX2-related FND
gene_symbol: ZIC1
disease_id: OMIM:618736
disease_name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: MYOD1
disease_id: OMIM:618975
disease_name: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: ANKLE2
disease_id: OMIM:616681
disease_name: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: NDUFB11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TIMMDC1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB10
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV1
disease_id: OMIM:618225
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: FOXRED1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TMEM126B
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF5
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF5
disease_id: OMIM:618238
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: NDUFA11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NUBPL
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS7
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS1
disease_id: OMIM:618226
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: NDUFB9
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: GMPPB
disease_id: OMIM:615351
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14
gene_symbol: GMPPB
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: MECP2
disease_id: ORPHA:1762
disease_name: Proximal Xq28 duplication syndrome
MECP2 duplication syndrome
X-linked intellectual disability syndrome, Lubs type
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: WNK3
disease_id: OMIM:309610
disease_name: PRIETO X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: SLC6A9
disease_id: OMIM:617301
disease_name: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
gene_symbol: DDC
disease_id: ORPHA:35708
disease_name: Aromatic L-amino acid decarboxylase deficiency
AADC deficiency
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
gene_symbol: NUTM2B-AS1
disease_id: OMIM:618637
disease_name: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1
gene_symbol: DIS3L2
disease_id: ORPHA:2849
disease_name: Perlman syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
gene_symbol: KCNN2
disease_id: OMIM:619724
disease_name: DYSTONIA 34, MYOCLONIC
gene_symbol: SPECC1L
disease_id: ORPHA:1519
disease_name: SPECC1L-related hypertelorism syndrome
Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome
gene_symbol: LIG3
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: TAF8
disease_id: OMIM:619972
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY
gene_symbol: COLEC10
disease_id: OMIM:248340
disease_name: 3MC SYNDROME 3
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: ALG14
disease_id: OMIM:616227
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 15
gene_symbol: ALG14
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: PREPL
disease_id: OMIM:616224
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 22
gene_symbol: PREPL
disease_id: ORPHA:163690
disease_name: Hypotonia-cystinuria syndrome
HCS
gene_symbol: ANXA11
disease_id: OMIM:619733
disease_name: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: ALG2
disease_id: OMIM:616228
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 14
gene_symbol: ALG2
disease_id: ORPHA:353327
disease_name: Congenital myasthenic syndromes with glycosylation defect
gene_symbol: CDH11
disease_id: OMIM:619736
disease_name: TEEBI HYPERTELORISM SYNDROME 2
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: COL3A1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: KMT2A
disease_id: ORPHA:319182
disease_name: Wiedemann-Steiner syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
gene_symbol: TENM3
disease_id: OMIM:615145
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
gene_symbol: TMEM107
disease_id: OMIM:617563
disease_name: OROFACIODIGITAL SYNDROME XVI
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
gene_symbol: NARS2
disease_id: OMIM:616239
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
gene_symbol: KCNA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DNM1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AP3B2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP6V1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC38A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FZR1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNC2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: EEF1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FBXO28
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRB2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNGAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GRIN2D
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NUS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: WWOX
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: HCN1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NECAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PACS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AARS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN8A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABBR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DALRD3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CYFIP2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NTRK2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PARS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CDK19
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FGF12
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PPP3CA
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: TRAK1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRG2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: YWHAG
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: UBA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN3A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CELF2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ACTL6B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FOXG1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNJ1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNB1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC13A5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CNKSR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DHDDS
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: THUMPD1
disease_id: OMIM:619989
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular syndrome
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: KIAA0753
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PDE6D
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: OFD1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: SUFU
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CPLANE1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: ARL13B
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: ARL13B
disease_id: OMIM:612291
disease_name: JOUBERT SYNDROME 8
gene_symbol: CEP104
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: HYLS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM218
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KIAA0586
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PIBF1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CBY1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: IFT74
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NAA10
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: DNA2
disease_id: OMIM:615156
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: BRPF1
disease_id: OMIM:617333
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: BAP1
disease_id: OMIM:619762
disease_name: KURY-ISIDOR SYNDROME
gene_symbol: FOXP1
disease_id: ORPHA:391372
disease_name: FOXP1 Syndrome
FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
gene_symbol: MINPP1
disease_id: OMIM:619527
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 16
gene_symbol: MYH8
disease_id: OMIM:158300
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 7
gene_symbol: MYH8
disease_id: ORPHA:3377
disease_name: Trismus-pseudocamptodactyly syndrome
Distal arthrogryposis type 7
Dutch-Kentucky syndrome
Hecht syndrome
Hecht-Beals syndrome
gene_symbol: PLEC
disease_id: ORPHA:257
disease_name: Epidermolysis bullosa simplex with muscular dystrophy
EBS with muscular dystrophy
EBS-MD
Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: SF3B4
disease_id: ORPHA:245
disease_name: Nager syndrome
Mandibulofacial dysostosis with preaxial limb anomalies
NAFD
Nager acrofacial dysostosis
Preaxial acrodysostosis
gene_symbol: MT-ATP8
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-TL1
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: MT-TL1
disease_id: ORPHA:663
disease_name: Mitochondrial DNA-related progressive external ophthalmoplegia
Maternally-inherited CPEO
Maternally-inherited chronic progressive external ophthalmoplegia
mtDNA-related progressive external ophthalmoplegia
gene_symbol: CDK13
disease_id: OMIM:617360
disease_name: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
gene_symbol: IREB2
disease_id: OMIM:618451
disease_name: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
gene_symbol: U2AF2
disease_id: OMIM:620535
disease_name: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: SUCLA2
disease_id: ORPHA:1933
disease_name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Booth-Haworth-Dilling syndrome
Mitochondrial encephalomyopathy-aminoacidopathy syndrome
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
gene_symbol: SUCLA2
disease_id: OMIM:612073
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
gene_symbol: SEMA3A
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SPRY4
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FLRT3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROKR2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: NDNF
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF8
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FEZF1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DCC
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: ANOS1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: IL17RD
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SOX10
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SOX10
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: CCDC141
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROK2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DUSP6
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: TACR3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: WDR11
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HS6ST1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HESX1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF17
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: RILPL1
disease_id: OMIM:619790
disease_name: OCULOPHARYNGODISTAL MYOPATHY 4
gene_symbol: TMLHE
disease_id: OMIM:300872
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
gene_symbol: RALA
disease_id: OMIM:619311
disease_name: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: PLOD1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SIAH1
disease_id: OMIM:619314
disease_name: BURATTI-HAREL SYNDROME
gene_symbol: SYNE1
disease_id: ORPHA:88644
disease_name: Autosomal recessive ataxia, Beauce type
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
gene_symbol: SYNE1
disease_id: OMIM:610743
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
gene_symbol: SYNE1
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: ROBO1
disease_id: OMIM:620303
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 8
gene_symbol: TSPOAP1
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: CAPRIN1
disease_id: OMIM:620782
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
gene_symbol: COQ2
disease_id: OMIM:146500
disease_name: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
gene_symbol: EFEMP1
disease_id: OMIM:620780
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID
gene_symbol: EFEMP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: MT-TL2
disease_id: ORPHA:663
disease_name: Mitochondrial DNA-related progressive external ophthalmoplegia
Maternally-inherited CPEO
Maternally-inherited chronic progressive external ophthalmoplegia
mtDNA-related progressive external ophthalmoplegia
gene_symbol: MT-TN
disease_id: ORPHA:663
disease_name: Mitochondrial DNA-related progressive external ophthalmoplegia
Maternally-inherited CPEO
Maternally-inherited chronic progressive external ophthalmoplegia
mtDNA-related progressive external ophthalmoplegia
gene_symbol: MT-TN
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TS1
disease_id: ORPHA:663
disease_name: Mitochondrial DNA-related progressive external ophthalmoplegia
Maternally-inherited CPEO
Maternally-inherited chronic progressive external ophthalmoplegia
mtDNA-related progressive external ophthalmoplegia
gene_symbol: MT-TS1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: JAG2
disease_id: OMIM:619566
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27
gene_symbol: SECISBP2
disease_id: ORPHA:171706
disease_name: Short stature-delayed bone age due to thyroid hormone metabolism deficiency
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
gene_symbol: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: LMNA
disease_id: OMIM:212112
disease_name: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM
gene_symbol: LMNA
disease_id: ORPHA:2229
disease_name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Cardiogenital syndrome
Malouf syndrome
Najjar syndrome
gene_symbol: LMNA
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: ERF
disease_id: ORPHA:207
disease_name: Crouzon syndrome
Crouzon craniofacial dysostosis
gene_symbol: MED13L
disease_id: ORPHA:369891
disease_name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
MED13L-related intellectual disability syndrome
gene_symbol: FDX2
disease_id: OMIM:251900
disease_name: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: PSAP
disease_id: OMIM:610539
disease_name: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
gene_symbol: FOXL2
disease_id: OMIM:110100
disease_name: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
gene_symbol: FOXL2
disease_id: ORPHA:572333
disease_name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
3q23 microdeletion syndrome
BPES plus
gene_symbol: ZMYND11
disease_id: OMIM:616083
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: ALDOA
disease_id: OMIM:611881
disease_name: GLYCOGEN STORAGE DISEASE XII
gene_symbol: BDNF
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: MITF
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: TYR
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: SNAI2
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: EDNRB
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: KITLG
disease_id: ORPHA:895
disease_name: Waardenburg syndrome type 2
WS2
Waardenburg syndrome type II
gene_symbol: PAX3
disease_id: ORPHA:894
disease_name: Waardenburg syndrome type 1
WS1
Waardenburg syndrome type I
gene_symbol: MARK3
disease_id: OMIM:618283
disease_name: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
gene_symbol: SLC18A2
disease_id: OMIM:618049
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 2
gene_symbol: SLC18A2
disease_id: ORPHA:352649
disease_name: Brain dopamine-serotonin vesicular transport disease
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: ITCH
disease_id: ORPHA:228426
disease_name: Syndromic multisystem autoimmune disease due to Itch deficiency
gene_symbol: ITCH
disease_id: OMIM:613385
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
gene_symbol: EARS2
disease_id: OMIM:614924
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: TAMM41
disease_id: OMIM:620139
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56
gene_symbol: ZNF462
disease_id: ORPHA:502430
disease_name: Weiss-Kruszka Syndrome
Metopic ridging-ptosis-facial dysmorphism syndrome
gene_symbol: ZNF462
disease_id: OMIM:618619
disease_name: WEISS-KRUSZKA SYNDROME
gene_symbol: NALCN
disease_id: ORPHA:2053
disease_name: Freeman-Sheldon syndrome
Craniocarpotarsal dysplasia
Craniocarpotarsal dystrophy
Distal arthrogryposis type 2A
Freeman-Burian syndrome
Whistling face syndrome
gene_symbol: MTRFR
disease_id: ORPHA:254930
disease_name: Combined oxidative phosphorylation defect type 7
COXPD7
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
gene_symbol: MTRFR
disease_id: OMIM:613559
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
gene_symbol: COX10
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX10
disease_id: OMIM:619046
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: SCO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: FASTKD2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TACO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SURF1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX6B1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX15
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CNTNAP1
disease_id: OMIM:618186
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
gene_symbol: FLNA
disease_id: OMIM:314400
disease_name: CARDIAC VALVULAR DYSPLASIA, X-LINKED
gene_symbol: FLNA
disease_id: OMIM:300244
disease_name: TERMINAL OSSEOUS DYSPLASIA
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
gene_symbol: COL9A3
disease_id: OMIM:620022
disease_name: STICKLER SYNDROME, TYPE VI
gene_symbol: VARS2
disease_id: OMIM:615917
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
gene_symbol: ACTA1
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: CFL2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: SMARCA2
disease_id: OMIM:619293
disease_name: BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1A
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: BIN1
disease_id: OMIM:255200
disease_name: MYOPATHY, CENTRONUCLEAR, 2
gene_symbol: BIN1
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: CNP
disease_id: OMIM:619071
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 20
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: UNC80
disease_id: OMIM:616801
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: MYPN
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KBTBD13
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: VMA22
disease_id: OMIM:616828
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
gene_symbol: SBF2
disease_id: ORPHA:99956
disease_name: Charcot-Marie-Tooth disease type 4B2
CMT4B2
gene_symbol: FHL1
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: EMD
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: MTSS2
disease_id: OMIM:620086
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OCULAR ANOMALIES AND DISTINCTIVE FACIAL FEATURES
gene_symbol: PRPS1
disease_id: OMIM:300661
disease_name: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
gene_symbol: YARS2
disease_id: OMIM:613561
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: FBN1
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: FBN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SKI
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: SKI
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TNPO3
disease_id: OMIM:608423
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2
gene_symbol: JARID2
disease_id: OMIM:620098
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
gene_symbol: TMEM43
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: SYNE2
disease_id: ORPHA:98853
disease_name: Autosomal dominant Emery-Dreifuss muscular dystrophy
EDMD2
gene_symbol: GMPPA
disease_id: OMIM:615510
disease_name: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
gene_symbol: MYF6
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: TBC1D24
disease_id: OMIM:220500
disease_name: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
gene_symbol: SETD5
disease_id: OMIM:615761
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: FBXL3
disease_id: OMIM:606220
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
gene_symbol: MYMX
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: RB1
disease_id: ORPHA:1587
disease_name: Monosomy 13q14 syndrome
Del(13)(q14)
Deletion 13q14
gene_symbol: C1QBP
disease_id: OMIM:617713
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: GPC4
disease_id: ORPHA:2662
disease_name: Keipert syndrome
Nasodigitoacoustic syndrome
gene_symbol: ALX1
disease_id: ORPHA:306542
disease_name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: TUBB6
disease_id: OMIM:617732
disease_name: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: IER3IP1
disease_id: OMIM:614231
disease_name: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
gene_symbol: QRICH1
disease_id: OMIM:617982
disease_name: VERVERI-BRADY SYNDROME
gene_symbol: SLC3A1
disease_id: ORPHA:163690
disease_name: Hypotonia-cystinuria syndrome
HCS
gene_symbol: PIK3R2
disease_id: OMIM:603387
disease_name: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
gene_symbol: CBS
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: THSD4
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ASPH
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FBN2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LOX
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: TGFBR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: BGN
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ABL1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: ARHGEF2
disease_id: OMIM:617523
disease_name: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
gene_symbol: SLC12A6
disease_id: OMIM:218000
disease_name: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
gene_symbol: ACBD5
disease_id: OMIM:618863
disease_name: RETINAL DYSTROPHY WITH LEUKODYSTROPHY
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: ZNF407
disease_id: OMIM:619557
disease_name: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
gene_symbol: PDZD8
disease_id: OMIM:620021
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: KCNJ11
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: KCNJ11
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: KCNJ11
disease_id: OMIM:618856
disease_name: DIABETES MELLITUS, PERMANENT NEONATAL, 2
gene_symbol: ABCC8
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: ABCC8
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: PAH
disease_id: ORPHA:2209
disease_name: Maternal phenylketonuria
Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy
gene_symbol: STAT3
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: GCK
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: PDX1
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: INS
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: KCNH1
disease_id: ORPHA:420561
disease_name: Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
gene_symbol: TYMS
disease_id: OMIM:620040
disease_name: DYSKERATOSIS CONGENITA, DIGENIC
gene_symbol: ISCU
disease_id: OMIM:255125
disease_name: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: CERT1
disease_id: OMIM:616351
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: NOVA2
disease_id: OMIM:618859
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: KIF1B
disease_id: OMIM:256700
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
gene_symbol: MYCN
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: ALK
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: LIN28B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: LMO1
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: HACE1
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: PHOX2B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: MED12L
disease_id: OMIM:618872
disease_name: NIZON-ISIDOR SYNDROME
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
gene_symbol: DDX59
disease_id: OMIM:174300
disease_name: OROFACIODIGITAL SYNDROME V
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: HOXB1
disease_id: OMIM:614744
disease_name: FACIAL PARESIS, HEREDITARY CONGENITAL, 3
gene_symbol: MID2
disease_id: OMIM:300928
disease_name: MENTAL RETARDATION, X-LINKED 101
gene_symbol: CAPN15
disease_id: OMIM:619318
disease_name: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism