TaoMedAI/RareMedData huggingface dataset:
Phenotype: Anasarca (HP:0012050)
Associated genes and diseases:
gene_symbol: PLVAP
disease_id: OMIM:618183
disease_name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: SCARB2
disease_id: OMIM:254900
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: NPHS1
disease_id: OMIM:256300
disease_name: NEPHROTIC SYNDROME, TYPE 1
Phenotype: Silver-gray hair (HP:0002218)
Associated genes and diseases:
gene_symbol: DSTYK
disease_id: ORPHA:101003
disease_name: Autosomal recessive spastic paraplegia type 23
Lison syndrome
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
gene_symbol: RAB27A
disease_id: OMIM:607624
disease_name: GRISCELLI SYNDROME, TYPE 2
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: MLPH
disease_id: OMIM:609227
disease_name: GRISCELLI SYNDROME, TYPE 3
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
gene_symbol: MYO5A
disease_id: OMIM:214450
disease_name: GRISCELLI SYNDROME, TYPE 1
Phenotype: Fair hair (HP:0002286)
Associated genes and diseases:
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
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: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: SLC17A5
disease_id: OMIM:269920
disease_name: INFANTILE SIALIC ACID STORAGE DISEASE
gene_symbol: SLC24A5
disease_id: OMIM:113750
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VI
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: SNRPN
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: TP63
disease_id: OMIM:103285
disease_name: ADULT SYNDROME
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: ABCA2
disease_id: OMIM:618808
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: PDE4D
disease_id: OMIM:614613
disease_name: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: PAH
disease_id: OMIM:261600
disease_name: PHENYLKETONURIA
gene_symbol: LPAR6
disease_id: OMIM:278150
disease_name: HYPOTRICHOSIS 8
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
Phenotype: Honeycomb lung (HP:0025175)
Associated genes and diseases:
gene_symbol: SFTPC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA2
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: STN1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPA1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: DSP
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: MUC5B
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: FAM13A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ATP11A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DPP9
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: RTEL1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: PARN
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: PARN
disease_id: OMIM:616371
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
gene_symbol: TERT
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
Phenotype: Subpleural interstitial thickening (HP:0025178)
Associated genes and diseases:
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
Phenotype: Ground-glass opacification (HP:0025179)
Associated genes and diseases:
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
gene_symbol: HLA-DPB1
disease_id: ORPHA:133
disease_name: Chronic beryllium disease
Berylliosis
Chronic berylliosis
Chronic beryllium lung disease
gene_symbol: CSF2RA
disease_id: OMIM:300770
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4
gene_symbol: IFIH1
disease_id: OMIM:619773
disease_name: IMMUNODEFICIENCY 95
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
gene_symbol: SFTPA1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
gene_symbol: SFTPA2
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: STN1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: DSP
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: MUC5B
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: FAM13A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: ATP11A
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: DPP9
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: RTEL1
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERC
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: PARN
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: TERT
disease_id: ORPHA:2032
disease_name: Idiopathic pulmonary fibrosis
IPF
gene_symbol: EIF2AK4
disease_id: ORPHA:199241
disease_name: Pulmonary capillary hemangiomatosis
gene_symbol: CSF2RB
disease_id: OMIM:614370
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004
gene_symbol: AGR2
disease_id: OMIM:620233
disease_name: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
gene_symbol: BMPR2
disease_id: OMIM:265450
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
Phenotype: Aneurysmal bone cyst (HP:0012063)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
Phenotype: Increased urinary disaccharide excretion (HP:0012066)
Associated genes and diseases:
gene_symbol: MANBA
disease_id: OMIM:248510
disease_name: MANNOSIDOSIS, BETA A, LYSOSOMAL
Phenotype: Glycopeptiduria (HP:0012067)
Associated genes and diseases:
gene_symbol: NAGA
disease_id: OMIM:609241
disease_name: SCHINDLER DISEASE, TYPE I
gene_symbol: NAGA
disease_id: OMIM:609242
disease_name: KANZAKI DISEASE
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: AGA
disease_id: ORPHA:93
disease_name: Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
Phenotype: Aspartylglucosaminuria (HP:0012068)
Associated genes and diseases:
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: AGA
disease_id: ORPHA:93
disease_name: Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
Phenotype: Keratan sulfate excretion in urine (HP:0012069)
Associated genes and diseases:
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: GNPTAB
disease_id: ORPHA:423461
disease_name: Mucolipidosis type III alpha/beta
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
Phenotype: Multiple bony cystic lesions (HP:0012065)
Associated genes and diseases:
gene_symbol: B2M
disease_id: ORPHA:314652
disease_name: Variant ABeta2M amyloidosis
Autosomal dominant beta2-microglobulinic amyloidosis
Phenotype: Acral lentiginous melanoma (HP:0012060)
Associated genes and diseases:
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
Phenotype: Urinary excretion of sialylated oligosaccharides (HP:0012061)
Associated genes and diseases:
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
Phenotype: Absent axillary hair (HP:0002221)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:189
disease_name: Hidrotic ectodermal dysplasia
Clouston syndrome
gene_symbol: GJB6
disease_id: OMIM:129500
disease_name: CLOUSTON SYNDROME
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: LSS
disease_id: OMIM:618275
disease_name: HYPOTRICHOSIS 14
gene_symbol: APOE
disease_id: OMIM:269600
disease_name: SEA-BLUE HISTIOCYTE DISEASE
gene_symbol: ITGB4
disease_id: OMIM:619816
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: SNRPE
disease_id: OMIM:615059
disease_name: HYPOTRICHOSIS 11
gene_symbol: EPS8L3
disease_id: OMIM:612841
disease_name: HYPOTRICHOSIS 5
gene_symbol: GJB2
disease_id: OMIM:148210
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: HR
disease_id: OMIM:203655
disease_name: ALOPECIA UNIVERSALIS CONGENITA
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
gene_symbol: CYP17A1
disease_id: ORPHA:90793
disease_name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CAH due to 17-alpha-hydroxylase deficiency
Combined 17-hydroxylase/17,20-lyase deficiency
gene_symbol: TBX3
disease_id: ORPHA:3138
disease_name: Ulnar-mammary syndrome
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
Phenotype: Melanin pigment aggregation in hair shafts (HP:0002220)
Associated genes and diseases:
gene_symbol: RAB27A
disease_id: OMIM:607624
disease_name: GRISCELLI SYNDROME, TYPE 2
gene_symbol: MYO5A
disease_id: OMIM:214450
disease_name: GRISCELLI SYNDROME, TYPE 1
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: MLPH
disease_id: OMIM:609227
disease_name: GRISCELLI SYNDROME, TYPE 3
Phenotype: White eyelashes (HP:0002227)
Associated genes and diseases:
gene_symbol: PAX3
disease_id: ORPHA:894
disease_name: Waardenburg syndrome type 1
WS1
Waardenburg syndrome type I
gene_symbol: PAX3
disease_id: OMIM:193500
disease_name: WAARDENBURG SYNDROME, TYPE 1
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: EDNRB
disease_id: OMIM:600501
disease_name: ABCD SYNDROME
gene_symbol: EDNRB
disease_id: OMIM:277580
disease_name: WAARDENBURG SYNDROME, TYPE 4A
gene_symbol: EDNRB
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: MITF
disease_id: OMIM:193510
disease_name: WAARDENBURG SYNDROME, TYPE 2A
gene_symbol: MITF
disease_id: OMIM:103500
disease_name: TIETZ ALBINISM-DEAFNESS SYNDROME
gene_symbol: MITF
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: SOX10
disease_id: OMIM:613266
disease_name: WAARDENBURG SYNDROME, TYPE 4C
gene_symbol: SOX10
disease_id: OMIM:611584
disease_name: WAARDENBURG SYNDROME, TYPE 2E
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
gene_symbol: SOX10
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: EDN3
disease_id: OMIM:613265
disease_name: WAARDENBURG SYNDROME, TYPE 4B
gene_symbol: EDN3
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: MLPH
disease_id: OMIM:609227
disease_name: GRISCELLI SYNDROME, TYPE 3
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: TYRP1
disease_id: ORPHA:79433
disease_name: Oculocutaneous albinism type 3
OCA3
Red oculocutaneous albinism
Rufous oculocutaneous albinism
Xanthous oculocutaneous albinism
gene_symbol: SNAI2
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: KIT
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: MYO5A
disease_id: OMIM:214450
disease_name: GRISCELLI SYNDROME, TYPE 1
Phenotype: White eyebrow (HP:0002226)
Associated genes and diseases:
gene_symbol: PAX3
disease_id: ORPHA:894
disease_name: Waardenburg syndrome type 1
WS1
Waardenburg syndrome type I
gene_symbol: PAX3
disease_id: OMIM:193500
disease_name: WAARDENBURG SYNDROME, TYPE 1
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: EDNRB
disease_id: OMIM:600501
disease_name: ABCD SYNDROME
gene_symbol: EDNRB
disease_id: OMIM:277580
disease_name: WAARDENBURG SYNDROME, TYPE 4A
gene_symbol: EDNRB
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: MITF
disease_id: OMIM:193510
disease_name: WAARDENBURG SYNDROME, TYPE 2A
gene_symbol: MITF
disease_id: ORPHA:42665
disease_name: Tietz syndrome
Hypopigmentation-deafness syndrome
Hypopigmentation-hearing loss syndrome
gene_symbol: MITF
disease_id: OMIM:103500
disease_name: TIETZ ALBINISM-DEAFNESS SYNDROME
gene_symbol: MITF
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: SOX10
disease_id: OMIM:613266
disease_name: WAARDENBURG SYNDROME, TYPE 4C
gene_symbol: SOX10
disease_id: OMIM:611584
disease_name: WAARDENBURG SYNDROME, TYPE 2E
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
gene_symbol: SOX10
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: EDN3
disease_id: OMIM:613265
disease_name: WAARDENBURG SYNDROME, TYPE 4B
gene_symbol: EDN3
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: TYRP1
disease_id: ORPHA:79433
disease_name: Oculocutaneous albinism type 3
OCA3
Red oculocutaneous albinism
Rufous oculocutaneous albinism
Xanthous oculocutaneous albinism
gene_symbol: SNAI2
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: KIT
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: MYO5A
disease_id: OMIM:214450
disease_name: GRISCELLI SYNDROME, TYPE 1
Phenotype: Refractory anemia (HP:0005505)
Associated genes and diseases:
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: BMPR1A
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: TBXAS1
disease_id: OMIM:231095
disease_name: GHOSAL HEMATODIAPHYSEAL DYSPLASIA
gene_symbol: DDX41
disease_id: OMIM:616871
disease_name: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
gene_symbol: GREM1
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
Phenotype: Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180)
Associated genes and diseases:
gene_symbol: BMPR2
disease_id: OMIM:265450
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT
gene_symbol: EIF2AK4
disease_id: OMIM:234810
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
gene_symbol: EIF2AK4
disease_id: ORPHA:199241
disease_name: Pulmonary capillary hemangiomatosis
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane 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: TOGARAM1
disease_id: OMIM:619185
disease_name: JOUBERT SYNDROME 37
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki 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: TUBB3
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: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
Phenotype: Chondroitin sulfate excretion in urine (HP:0012070)
Associated genes and diseases:
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
Phenotype: Retinal vasculitis (HP:0025188)
Associated genes and diseases:
gene_symbol: IVNS1ABP
disease_id: OMIM:618969
disease_name: IMMUNODEFICIENCY 70
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
Phenotype: Abnormal urinary acylglycine profile (HP:0012073)
Associated genes and diseases:
gene_symbol: IVD
disease_id: OMIM:243500
disease_name: ISOVALERIC ACIDEMIA
Phenotype: Tonic pupil (HP:0012074)
Associated genes and diseases:
gene_symbol: PRORP
disease_id: OMIM:619737
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54
gene_symbol: PMP22
disease_id: ORPHA:90658
disease_name: Charcot-Marie-Tooth disease type 1E
CMT1E
Charcot-Marie-Tooth disease-deafness syndrome
Charcot-Marie-Tooth disease-hearing loss syndrome
gene_symbol: MPZ
disease_id: OMIM:118200
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B