TaoMedAI/RareMedData huggingface dataset:
Phenotype: Rotary nystagmus (HP:0001583)
Associated genes and diseases:
gene_symbol: NPHP4
disease_id: OMIM:606996
disease_name: SENIOR-LOKEN SYNDROME 4
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: RARS1
disease_id: OMIM:616140
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 9
gene_symbol: ACBD5
disease_id: OMIM:618863
disease_name: RETINAL DYSTROPHY WITH LEUKODYSTROPHY
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: MPC1
disease_id: OMIM:614741
disease_name: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: TELO2
disease_id: OMIM:616954
disease_name: YOU-HOOVER-FONG SYNDROME
gene_symbol: MPDZ
disease_id: OMIM:615219
disease_name: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
gene_symbol: PEX11B
disease_id: OMIM:614920
disease_name: PEROXISOME BIOGENESIS DISORDER 14B
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
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: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: ERLIN2
disease_id: ORPHA:209951
disease_name: Autosomal spastic paraplegia type 18
SPG18
gene_symbol: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: SLC16A2
disease_id: OMIM:300523
disease_name: ALLAN-HERNDON-DUDLEY SYNDROME
gene_symbol: PNPO
disease_id: OMIM:610090
disease_name: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: KCNN2
disease_id: OMIM:619724
disease_name: DYSTONIA 34, MYOCLONIC
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
Phenotype: Vesicovaginal fistula (HP:0001586)
Associated genes and diseases:
gene_symbol: MKKS
disease_id: OMIM:236700
disease_name: MCKUSICK-KAUFMAN SYNDROME
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
Phenotype: Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts (HP:6000219)
Associated genes and diseases:
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Phenotype: Delayed passage of meconium (HP:6000224)
Associated genes and diseases:
gene_symbol: ABCD1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: RET
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: GDNF
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SMO
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ECE1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SREBF1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDN3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SEMA3D
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ATP7A
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDNRB
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SEMA3C
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB2
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: NRTN
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
Phenotype: Thiamine-responsive megaloblastic anemia (HP:0004860)
Associated genes and diseases:
gene_symbol: SLC19A2
disease_id: OMIM:249270
disease_name: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
Phenotype: Refractory macrocytic anemia (HP:0004861)
Associated genes and diseases:
gene_symbol: RPS14
disease_id: OMIM:153550
disease_name: CHROMOSOME 5q DELETION SYNDROME
Phenotype: Compensated hemolytic anemia (HP:0004863)
Associated genes and diseases:
gene_symbol: GPX1
disease_id: OMIM:614164
disease_name: GLUTATHIONE PEROXIDASE DEFICIENCY
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated genes and diseases:
gene_symbol: RUNX1
disease_id: OMIM:601399
disease_name: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
gene_symbol: ITGB3
disease_id: OMIM:619271
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 24
gene_symbol: ITGB3
disease_id: OMIM:619267
disease_name: GLANZMANN THROMBASTHENIA 2
gene_symbol: ITGB3
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: IKZF5
disease_id: OMIM:619130
disease_name: THROMBOCYTOPENIA 7
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: GP1BA
disease_id: OMIM:153670
disease_name: BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
gene_symbol: SH2B3
disease_id: OMIM:187950
disease_name: THROMBOCYTHEMIA 1
gene_symbol: CALR
disease_id: OMIM:187950
disease_name: THROMBOCYTHEMIA 1
gene_symbol: THPO
disease_id: OMIM:187950
disease_name: THROMBOCYTHEMIA 1
gene_symbol: HPS5
disease_id: OMIM:614074
disease_name: HERMANSKY-PUDLAK SYNDROME 5
gene_symbol: ACTN1
disease_id: OMIM:615193
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 15
gene_symbol: FLI1
disease_id: OMIM:617443
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 21
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: EPHB2
disease_id: OMIM:618462
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 22
gene_symbol: RASGRP2
disease_id: OMIM:615888
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 18
gene_symbol: P2RY12
disease_id: OMIM:609821
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 8
gene_symbol: TPM4
disease_id: OMIM:620486
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 25
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
Phenotype: Congenital thrombocytopenia (HP:0001905)
Associated genes and diseases:
gene_symbol: STAT2
disease_id: OMIM:618886
disease_name: PSEUDO-TORCH SYNDROME 3
gene_symbol: MYH9
disease_id: ORPHA:182050
disease_name: MYH9-related disease
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia
gene_symbol: WAS
disease_id: OMIM:313900
disease_name: THROMBOCYTOPENIA 1
gene_symbol: MECOM
disease_id: OMIM:616738
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
gene_symbol: GATA1
disease_id: OMIM:300367
disease_name: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
gene_symbol: HOXA11
disease_id: OMIM:605432
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
Phenotype: Concave nail (HP:0001598)
Associated genes and diseases:
gene_symbol: HRAS
disease_id: ORPHA:3071
disease_name: Costello syndrome
FCS syndrome
Faciocutaneoskeletal syndrome
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: MPLKIP
disease_id: OMIM:234050
disease_name: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MSX1
disease_id: OMIM:189500
disease_name: WITKOP SYNDROME
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: TMPRSS6
disease_id: ORPHA:209981
disease_name: IRIDA syndrome
Iron-refractory iron deficiency anemia
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: KRT1
disease_id: ORPHA:530838
disease_name: KRT1-related diffuse nonepidermolytic keratoderma
KRT1-related diffuse NEPPK
gene_symbol: PLCD1
disease_id: OMIM:151600
disease_name: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
Phenotype: Elevated urinary gamma-glutamylphenylalanine level (HP:6000281)
Associated genes and diseases:
gene_symbol: PAH
disease_id: OMIM:261600
disease_name: PHENYLKETONURIA
Phenotype: Perineal fistula (HP:0004871)
Associated genes and diseases:
gene_symbol: CDK8
disease_id: OMIM:618748
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: NCF4
disease_id: OMIM:613960
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: PKP1
disease_id: ORPHA:158668
disease_name: Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Incisional hernia (HP:0004872)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
Phenotype: Neonatal inspiratory stridor (HP:0004875)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
gene_symbol: KIF22
disease_id: ORPHA:93360
disease_name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
SEMD-MD
SEMDJL2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Phenotype: Spontaneous neonatal pneumothorax (HP:0004876)
Associated genes and diseases:
gene_symbol: CCR2
disease_id: OMIM:219600
disease_name: POLYCYSTIC LUNG DISEASE
gene_symbol: ABCA3
disease_id: ORPHA:217563
disease_name: Neonatal acute respiratory distress syndrome
Hyaline membrane disease
Neonatal RDS
Neonatal acute respiratory distress due to surfactant protein deficiency
gene_symbol: SFTPB
disease_id: ORPHA:217563
disease_name: Neonatal acute respiratory distress syndrome
Hyaline membrane disease
Neonatal RDS
Neonatal acute respiratory distress due to surfactant protein deficiency
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: SELENON
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ACTA1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MYL2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: ITGA7
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM2
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: HACD1
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: TPM3
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: MAP3K20
disease_id: ORPHA:2020
disease_name: Congenital fiber-type disproportion myopathy
CFTDM
gene_symbol: VRK1
disease_id: OMIM:607596
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
gene_symbol: LAMA2
disease_id: ORPHA:258
disease_name: Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy
Phenotype: Intermittent hyperventilation (HP:0004879)
Associated genes and diseases:
gene_symbol: CASK
disease_id: OMIM:300749
disease_name: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
gene_symbol: MECP2
disease_id: OMIM:312750
disease_name: RETT SYNDROME
gene_symbol: SYT1
disease_id: ORPHA:522077
disease_name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: FBP1
disease_id: ORPHA:348
disease_name: Fructose-1,6-bisphosphatase deficiency
FBPase deficiency
Fructose-1,6-diphosphatase deficiency
Phenotype: Spinal cord granuloma (HP:6000257)
Associated genes and diseases:
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
Phenotype: Impaired folate absorption (HP:6000258)
Associated genes and diseases:
gene_symbol: SLC46A1
disease_id: OMIM:229050
disease_name: FOLATE MALABSORPTION, HEREDITARY
Phenotype: Congenital laryngeal stridor (HP:0004886)
Associated genes and diseases:
gene_symbol: EXOSC8
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC9
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: AGTPBP1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC3
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: VRK1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: SLC25A46
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated genes and diseases:
gene_symbol: CHRNA1
disease_id: OMIM:601462
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
gene_symbol: SELENON
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: MYH7
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: TTN
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
Phenotype: Papillary dermal edema (HP:6000263)
Associated genes and diseases:
gene_symbol: SAMHD1
disease_id: OMIM:614415
disease_name: CHILBLAIN LUPUS 2
Phenotype: Absent circulating immunoglobulin kappa chain (HP:6000261)
Associated genes and diseases:
gene_symbol: IGKC
disease_id: OMIM:614102
disease_name: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
Phenotype: Elevated circulating pipecolic acid concentration (HP:6000268)
Associated genes and diseases:
gene_symbol: ALDH7A1
disease_id: OMIM:266100
disease_name: EPILEPSY, PYRIDOXINE-DEPENDENT
Phenotype: Elevated urinary 3-hydroxykynurenine level (HP:6000265)
Associated genes and diseases:
gene_symbol: KYNU
disease_id: OMIM:236800
disease_name: HYDROXYKYNURENINURIA
Phenotype: Elevated CSF saccharopine concentration (HP:6000270)
Associated genes and diseases:
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
Phenotype: Persistent falcine venous sinus (HP:6000295)
Associated genes and diseases:
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
Phenotype: Recurrent infections due to aspiration (HP:0004891)
Associated genes and diseases:
gene_symbol: ELP1
disease_id: OMIM:223900
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
gene_symbol: SPTBN4
disease_id: OMIM:617519
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS