TaoMedAI/RareMedData huggingface dataset:
Phenotype: Subcutaneous lipoma (HP:0001031)
Associated genes and diseases:
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: MEN1
disease_id: OMIM:131100
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
gene_symbol: FGFR1
disease_id: OMIM:613001
disease_name: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
Phenotype: Absent distal interphalangeal creases (HP:0001032)
Associated genes and diseases:
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: HOXD13
disease_id: OMIM:186300
disease_name: SYNDACTYLY, TYPE V
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
Phenotype: Facial flushing after alcohol intake (HP:0001033)
Associated genes and diseases:
gene_symbol: ALDH2
disease_id: OMIM:610251
disease_name: ALCOHOL SENSITIVITY, ACUTE
Phenotype: Warfarin-induced skin necrosis (HP:0001038)
Associated genes and diseases:
gene_symbol: PROC
disease_id: OMIM:176860
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: PROC
disease_id: ORPHA:745
disease_name: Severe hereditary thrombophilia due to congenital protein C deficiency
Autosomal recessive thrombophilia due to PC deficiency
Autosomal recessive thrombophilia due to congenital protein C deficiency
gene_symbol: PROS1
disease_id: OMIM:612336
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
Phenotype: Atheroeruptive xanthoma (HP:0001039)
Associated genes and diseases:
gene_symbol: APOA5
disease_id: OMIM:145750
disease_name: HYPERTRIGLYCERIDEMIA, FAMILIAL
Phenotype: Multiple pterygia (HP:0001040)
Associated genes and diseases:
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
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: CHRNA1
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: CHRNG
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
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: CHRND
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Phenotype: Facial erythema (HP:0001041)
Associated genes and diseases:
gene_symbol: MBTPS2
disease_id: OMIM:308800
disease_name: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
gene_symbol: MBTPS2
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: RHOH
disease_id: OMIM:618307
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
gene_symbol: KCNQ2
disease_id: ORPHA:439218
disease_name: KCNQ2-related epileptic encephalopathy
KCNQ2-NEE
KCNQ2-related neonatal epileptic encephalopathy
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: AIP
disease_id: OMIM:219090
disease_name: PITUITARY ADENOMA 4, ACTH-SECRETING
gene_symbol: USP8
disease_id: OMIM:219090
disease_name: PITUITARY ADENOMA 4, ACTH-SECRETING
gene_symbol: GJA1
disease_id: ORPHA:1010
disease_name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: C1QB
disease_id: OMIM:620321
disease_name: C1q DEFICIENCY 2
gene_symbol: ADGRE2
disease_id: OMIM:125630
disease_name: VIBRATORY URTICARIA
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
Phenotype: High axial triradius (HP:0001042)
Associated genes and diseases:
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
Phenotype: Prominent scalp veins (HP:0001043)
Associated genes and diseases:
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
Phenotype: Intermittent jaundice (HP:0001046)
Associated genes and diseases:
gene_symbol: ATP8B1
disease_id: OMIM:243300
disease_name: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1
gene_symbol: ABCB11
disease_id: OMIM:601847
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2
gene_symbol: SLCO1B3
disease_id: ORPHA:3111
disease_name: Rotor syndrome
Hyperbilirubinemia, Rotor type
gene_symbol: SLCO1B1
disease_id: ORPHA:3111
disease_name: Rotor syndrome
Hyperbilirubinemia, Rotor type
gene_symbol: SPTB
disease_id: OMIM:617948
disease_name: ELLIPTOCYTOSIS 3
gene_symbol: SLC4A1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: PIEZO1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: KCNN4
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: RHAG
disease_id: ORPHA:3203
disease_name: Overhydrated hereditary stomatocytosis
Phenotype: Absent dorsal skin creases over affected joints (HP:0001049)
Associated genes and diseases:
gene_symbol: CHST11
disease_id: OMIM:618167
disease_name: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS
Phenotype: Bladder fistula (HP:0004321)
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: Plethora (HP:0001050)
Associated genes and diseases:
gene_symbol: SH2B3
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: JAK2
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: EPOR
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: ARMC5
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: KDM1A
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: GNAS
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: VHL
disease_id: OMIM:263400
disease_name: ERYTHROCYTOSIS, FAMILIAL, 2
Phenotype: Numerous nevi (HP:0001054)
Associated genes and diseases:
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: PTEN
disease_id: ORPHA:210548
disease_name: Macrocephaly-intellectual disability-autism syndrome
gene_symbol: HEPACAM
disease_id: ORPHA:210548
disease_name: Macrocephaly-intellectual disability-autism syndrome
gene_symbol: BRAF
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: OMIM:613707
disease_name: LEOPARD SYNDROME 3
gene_symbol: BRAF
disease_id: OMIM:613706
disease_name: NOONAN SYNDROME 7
gene_symbol: STK11
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
gene_symbol: CDK4
disease_id: OMIM:609048
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
gene_symbol: NRAS
disease_id: OMIM:162900
disease_name: NEVUS, EPIDERMAL
gene_symbol: FGFR3
disease_id: OMIM:162900
disease_name: NEVUS, EPIDERMAL
gene_symbol: HRAS
disease_id: OMIM:162900
disease_name: NEVUS, EPIDERMAL
gene_symbol: PIK3CA
disease_id: OMIM:162900
disease_name: NEVUS, EPIDERMAL
Phenotype: Erysipelas (HP:0001055)
Associated genes and diseases:
gene_symbol: MEFV
disease_id: ORPHA:342
disease_name: Familial Mediterranean fever
Benign paroxysmal peritonitis
Benign recurrent polyserositis
FMF
Familial paroxysmal polyserositis
Periodic disease
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: MEFV
disease_id: OMIM:134610
disease_name: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
gene_symbol: KIF11
disease_id: ORPHA:2526
disease_name: Microcephaly-lymphedema-chorioretinopathy syndrome
MLCRD
gene_symbol: ADAMTS3
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: CCBE1
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: CCBE1
disease_id: OMIM:235510
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
gene_symbol: FAT4
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: TNFRSF1A
disease_id: ORPHA:32960
disease_name: Tumor necrosis factor receptor 1 associated periodic syndrome
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
gene_symbol: FLT4
disease_id: ORPHA:79452
disease_name: Milroy disease
Hereditary lymphedema type I
Nonne-Milroy lymphedema
gene_symbol: FAM111B
disease_id: OMIM:615704
disease_name: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
Phenotype: Midline facial capillary hemangioma (HP:0007601)
Associated genes and diseases:
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: CD96
disease_id: ORPHA:1308
disease_name: C syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
Phenotype: Freckles in sun-exposed areas (HP:0007603)
Associated genes and diseases:
gene_symbol: POLH
disease_id: OMIM:278750
disease_name: XERODERMA PIGMENTOSUM, VARIANT TYPE
gene_symbol: POLH
disease_id: ORPHA:90342
disease_name: Xeroderma pigmentosum variant
XPV
gene_symbol: MC1R
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: OCA2
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: HPS1
disease_id: OMIM:203300
disease_name: HERMANSKY-PUDLAK SYNDROME 1
Phenotype: Hypohidrotic ectodermal dysplasia (HP:0007607)
Associated genes and diseases:
gene_symbol: EDARADD
disease_id: OMIM:614940
disease_name: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
gene_symbol: EDARADD
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDAR
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Phenotype: Hypoproteinemic edema (HP:0007609)
Associated genes and diseases:
gene_symbol: TMPRSS15
disease_id: OMIM:226200
disease_name: ENTEROKINASE DEFICIENCY
Phenotype: Bone-marrow foam cells (HP:0004333)
Associated genes and diseases:
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: SMPD1
disease_id: OMIM:257200
disease_name: NIEMANN-PICK DISEASE, TYPE A
gene_symbol: LIPA
disease_id: OMIM:278000
disease_name: LYSOSOMAL ACID LIPASE DEFICIENCY
gene_symbol: LIPA
disease_id: ORPHA:75233
disease_name: Wolman disease
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: NPC1
disease_id: OMIM:257220
disease_name: NIEMANN-PICK DISEASE, TYPE C1
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
Phenotype: Increased skull ossification (HP:0004330)
Associated genes and diseases:
gene_symbol: SGSH
disease_id: OMIM:252900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIA
gene_symbol: HGSNAT
disease_id: OMIM:252930
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
gene_symbol: NAGLU
disease_id: OMIM:252920
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIB
gene_symbol: HHAT
disease_id: ORPHA:1422
disease_name: Chondrodysplasia-difference of sex development syndrome
Chondrodysplasia-disorder of sex development syndrome
Chondrodysplasia-pseudohermaphroditism syndrome
Nivelon-Nivelon-Mabille syndrome
gene_symbol: RBL2
disease_id: OMIM:619690
disease_name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
gene_symbol: CSF1R
disease_id: OMIM:618476
disease_name: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
gene_symbol: OSTM1
disease_id: ORPHA:85179
disease_name: Infantile osteopetrosis with neuroaxonal dysplasia
gene_symbol: VCP
disease_id: ORPHA:329475
disease_name: Spastic paraplegia-Paget disease of bone syndrome
Phenotype: Axillary pterygium (HP:0001060)
Associated genes and diseases:
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
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: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: CHUK
disease_id: OMIM:619339
disease_name: BARTSOCAS-PAPAS SYNDROME 2
gene_symbol: ADGRG6
disease_id: OMIM:616503
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 9
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: ITGB4
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: ITGA6
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: PLEC
disease_id: OMIM:226730
disease_name: EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
Phenotype: Atypical nevus (HP:0001062)
Associated genes and diseases:
gene_symbol: CDK4
disease_id: OMIM:609048
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
gene_symbol: BRAF
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
gene_symbol: STK11
disease_id: OMIM:155600
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated genes and diseases:
gene_symbol: TAT
disease_id: ORPHA:28378
disease_name: Tyrosinemia type 2
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
gene_symbol: CBS
disease_id: ORPHA:394
disease_name: Homocystinuria due to cystathionine beta-synthase deficiency
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
gene_symbol: ERCC2
disease_id: ORPHA:220295
disease_name: Xeroderma pigmentosum-Cockayne syndrome complex
XP/CS complex
gene_symbol: ERCC5
disease_id: ORPHA:220295
disease_name: Xeroderma pigmentosum-Cockayne syndrome complex
XP/CS complex
gene_symbol: ERCC4
disease_id: ORPHA:220295
disease_name: Xeroderma pigmentosum-Cockayne syndrome complex
XP/CS complex
gene_symbol: ERCC3
disease_id: ORPHA:220295
disease_name: Xeroderma pigmentosum-Cockayne syndrome complex
XP/CS complex
gene_symbol: AGA
disease_id: ORPHA:93
disease_name: Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
gene_symbol: SLC30A10
disease_id: ORPHA:309854
disease_name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Phenotype: Blotching pigmentation of the skin (HP:0007610)
Associated genes and diseases:
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
Phenotype: Fine, reticulate skin pigmentation (HP:0007617)
Associated genes and diseases:
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: TINF2
disease_id: ORPHA:3088
disease_name: Revesz syndrome
Dyskeratosis congenita with bilateral exudative retinopathy
Retinopathy-anemia-central nervous system anomalies syndrome
Revesz-DeBuse syndrome
Phenotype: Subcutaneous calcification (HP:0007618)
Associated genes and diseases:
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: FGF23
disease_id: OMIM:617993
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
gene_symbol: PSMC3
disease_id: OMIM:619354
disease_name: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Phenotype: Abnormal galactosidase enyzme activity (HP:0004342)
Associated genes and diseases:
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: GLB1
disease_id: OMIM:230650
disease_name: GM1-GANGLIOSIDOSIS, TYPE III
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: GLB1
disease_id: ORPHA:79255
disease_name: GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis
Norman-Landing disease
gene_symbol: CTSA
disease_id: OMIM:256540
disease_name: GALACTOSIALIDOSIS
gene_symbol: GALE
disease_id: OMIM:230350
disease_name: GALACTOSEMIA III
Phenotype: Abnormal glycosphingolipid metabolism (HP:0004343)
Associated genes and diseases:
gene_symbol: HEXA
disease_id: OMIM:272800
disease_name: TAY-SACHS DISEASE
gene_symbol: GM2A
disease_id: OMIM:272750
disease_name: GM2-GANGLIOSIDOSIS, AB VARIANT
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: PSAP
disease_id: OMIM:611721
disease_name: COMBINED SAPOSIN DEFICIENCY
gene_symbol: PSAP
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
Phenotype: Ganglioside accumulation (HP:0004345)
Associated genes and diseases:
gene_symbol: HEXA
disease_id: OMIM:272800
disease_name: TAY-SACHS DISEASE
gene_symbol: GM2A
disease_id: OMIM:272750
disease_name: GM2-GANGLIOSIDOSIS, AB VARIANT
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV