Phenotype: Sparse hair (HP:0008070)
Associated genes and diseases:
gene_symbol: NECTIN4
disease_id: OMIM:613573
disease_name: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
gene_symbol: ALX1
disease_id: OMIM:613456
disease_name: FRONTONASAL DYSPLASIA 3
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: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: KREMEN1
disease_id: OMIM:617392
disease_name: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: DPH1
disease_id: OMIM:616901
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
gene_symbol: DOLK
disease_id: OMIM:610768
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: FAM111B
disease_id: OMIM:615704
disease_name: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
gene_symbol: SOX18
disease_id: OMIM:137940
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
gene_symbol: B4GALT7
disease_id: ORPHA:75496
disease_name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
B4GALT7-related spondylodysplastic EDS
EDS progeroid type 1
EDS with short stature and limb anomalies
spEDS-B4GALT7
gene_symbol: EDNRA
disease_id: OMIM:616367
disease_name: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
gene_symbol: EPS8L3
disease_id: OMIM:612841
disease_name: HYPOTRICHOSIS 5
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: DPH5
disease_id: OMIM:620070
disease_name: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
gene_symbol: KANK2
disease_id: OMIM:616099
disease_name: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
gene_symbol: LTV1
disease_id: OMIM:620199
disease_name: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES
gene_symbol: NF1
disease_id: ORPHA:139474
disease_name: 17q11.2 microduplication syndrome
Dup(17)(q11.2)
Grisart-Destrée syndrome
Trisomy 17q11.2
gene_symbol: DLX4
disease_id: OMIM:616788
disease_name: OROFACIAL CLEFT 15
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: KRT74
disease_id: OMIM:614929
disease_name: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: DSP
disease_id: OMIM:605676
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
gene_symbol: TSR2
disease_id: OMIM:300946
disease_name: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
gene_symbol: HRURF
disease_id: OMIM:146550
disease_name: HYPOTRICHOSIS 4
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: SPINK5
disease_id: ORPHA:634
disease_name: Netherton syndrome
Bamboo hair syndrome
Comèl-Netherton syndrome
NS
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: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: TSPEAR
disease_id: OMIM:618180
disease_name: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
gene_symbol: DNA2
disease_id: OMIM:620819
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 4
gene_symbol: DNA2
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: UBA2
disease_id: OMIM:619959
disease_name: ACCES SYNDROME
gene_symbol: HDAC4
disease_id: ORPHA:1001
disease_name: 2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: AHSG
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: ITGB6
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: JUP
disease_id: ORPHA:34217
disease_name: Naxos disease
KWWH type I
Keratoderma with woolly hair type I
Keratosis palmoplantaris with arrythmogenic cardiomyopathy
Naxos syndrome
Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
Palmoplantar keratoderma with arrythmogenic cardiomyopathy
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: KRT6B
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: KRT17
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
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: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: ARID1B
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
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: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: KAT6B
disease_id: ORPHA:85201
disease_name: Genitopatellar syndrome
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
gene_symbol: CDSN
disease_id: OMIM:146520
disease_name: HYPOTRICHOSIS 2
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
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: DPF2
disease_id: OMIM:618027
disease_name: COFFIN-SIRIS SYNDROME 7
gene_symbol: SMARCD1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCE1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCE1
disease_id: OMIM:616938
disease_name: COFFIN-SIRIS SYNDROME 5
gene_symbol: SOX11
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX11
disease_id: OMIM:615866
disease_name: COFFIN-SIRIS SYNDROME 9
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: KDM1A
disease_id: ORPHA:477993
disease_name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
gene_symbol: NTRK1
disease_id: OMIM:256800
disease_name: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: PCNT
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
gene_symbol: C3orf52
disease_id: OMIM:620177
disease_name: HYPOTRICHOSIS 15
gene_symbol: DPH2
disease_id: OMIM:620062
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2
gene_symbol: DPH2
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: HLA-DRA
disease_id: ORPHA:505
disease_name: Graham Little-Piccardi-Lassueur syndrome
Graham Little syndrome
Piccardi-Lassueur-Little syndrome
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: EXT1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: RAD21
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: MAF
disease_id: ORPHA:1272
disease_name: Aymé-Gripp syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: ATR
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CENPE
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CPAP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: RBBP8
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: NUP85
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: ATRIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: TRAIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CEP152
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PLK4
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
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
gene_symbol: ACD
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: PRKD1
disease_id: OMIM:617364
disease_name: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: IGF1R
disease_id: OMIM:270450
disease_name: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
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: FAT4
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: AR
disease_id: OMIM:300068
disease_name: ANDROGEN INSENSITIVITY SYNDROME
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: FSHB
disease_id: ORPHA:52901
disease_name: Isolated follicle stimulating hormone deficiency
Isolated FSH deficiency
gene_symbol: LHB
disease_id: OMIM:228300
disease_name: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA
gene_symbol: CYB5A
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: CYP17A1
disease_id: ORPHA:90796
disease_name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY disorder of sex development due to isolated 17,20-lyase deficiency
gene_symbol: KISS1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: CHD7
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FGF17
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: PROKR2
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: CCDC141
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SEMA3E
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SRA1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: PROK2
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: NSMF
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FGFR1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: AXL
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SOX10
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SPRY4
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FEZF1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: WDR11
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: DUSP6
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: TACR3
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: KISS1R
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: FGF8
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: SEMA3A
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: GNRH1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: ANOS1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: TAC3
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: HS6ST1
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: GNRHR
disease_id: OMIM:146110
disease_name: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA
gene_symbol: MAP3K1
disease_id: OMIM:613762
disease_name: 46,XY SEX REVERSAL 6
gene_symbol: MAP3K1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: SOX9
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: VAMP7
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WWOX
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR5A1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WT1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: DHX37
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: SRY
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZFPM2
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR0B1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: GATA4
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: ORC6
disease_id: OMIM:613803
disease_name: MEIER-GORLIN SYNDROME 3
gene_symbol: COL17A1
disease_id: ORPHA:251393
disease_name: Localized junctional epidermolysis bullosa
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
gene_symbol: ITGB4
disease_id: ORPHA:251393
disease_name: Localized junctional epidermolysis bullosa
JEB-nH loc
Junctional epidermolysis bullosa, non-Herlitz localized type
Localized JEB
gene_symbol: FOXL2
disease_id: OMIM:110100
disease_name: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS
gene_symbol: MDM2
disease_id: OMIM:618681
disease_name: LESSEL-KUBISCH SYNDROME
gene_symbol: PSMC3IP
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: POLR3H
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: ZSWIM7
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: BMP15
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: FIGLA
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: NUP107
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: SPIDR
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: FSHR
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: MRPS22
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: BNC1
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: MSH4
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: NHLH2
disease_id: ORPHA:432
disease_name: Normosmic congenital hypogonadotropic hypogonadism
Normosmic idiopathic hypogonadotropic hypogonadism
nIHH
gene_symbol: KLHL24
disease_id: OMIM:617294
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS
gene_symbol: KRT85
disease_id: OMIM:602032
disease_name: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
gene_symbol: FMR1
disease_id: ORPHA:261483
disease_name: Xq27.3q28 duplication syndrome
Dup(X)(q27.3q28)
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Xq27.3-q28 microduplication syndrome
gene_symbol: LAMA3
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: LAMC2
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: LAMB3
disease_id: ORPHA:79402
disease_name: Intermediate generalized junctional epidermolysis bullosa
Generalized atrophic benign epidermolysis bullosa
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate generalized JEB
Junctional epidermolysis bullosa generalisata mitis
Junctional epidermolysis bullosa, Disentis type
gene_symbol: BCS1L
disease_id: ORPHA:123
disease_name: Björnstad syndrome
Deafness-pili torti-hypogonadism syndrome
Hearing loss-pili torti-hypogonadism syndrome
gene_symbol: CTSC
disease_id: ORPHA:678
disease_name: Papillon-Lefèvre syndrome
Keratosis palmoplantar-periodontopathy syndrome
PLS
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
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: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: MSX1
disease_id: OMIM:189500
disease_name: WITKOP SYNDROME
gene_symbol: SHOC2
disease_id: OMIM:607721
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
gene_symbol: SPRTN
disease_id: OMIM:616200
disease_name: RUIJS-AALFS SYNDROME
gene_symbol: EXT2
disease_id: OMIM:616682
disease_name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
gene_symbol: EDARADD
disease_id: OMIM:614940
disease_name: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
gene_symbol: EDARADD
disease_id: OMIM:614941
disease_name: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDARADD
disease_id: ORPHA:1810
disease_name: Autosomal dominant hypohidrotic ectodermal dysplasia
AD-HED
Autosomal dominant anhidrotic ectodermal dysplasia
gene_symbol: EDARADD
disease_id: OMIM:129490
disease_name: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
gene_symbol: EDARADD
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: WDR35
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: ANAPC1
disease_id: OMIM:618625
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 1
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: RECQL4
disease_id: OMIM:268400
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 2
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: SREBF1
disease_id: OMIM:619016
disease_name: IFAP SYNDROME 2
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: H3-3B
disease_id: OMIM:619721
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: UBE3B
disease_id: OMIM:244450
disease_name: KAUFMAN OCULOCEREBROFACIAL SYNDROME
gene_symbol: PNPLA6
disease_id: OMIM:275400
disease_name: OLIVER-MCFARLANE SYNDROME
gene_symbol: PNPLA6
disease_id: ORPHA:3363
disease_name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Long eyelashes-intellectual disability syndrome
Oliver-McFarlane syndrome
gene_symbol: NECTIN1
disease_id: ORPHA:3253
disease_name: Cleft lip/palate-ectodermal dysplasia syndrome
CLPED1
Cleft lip/palate-syndactyly-pili torti syndrome
Syndactyly-ectodermal dysplasia-cleft/lip palate
Zlotogora-Ogur syndrome
gene_symbol: HPD
disease_id: OMIM:140350
disease_name: HAWKINSINURIA
gene_symbol: HPD
disease_id: ORPHA:2118
disease_name: Hawkinsinuria
4-HPPD deficiency
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
4-hydroxyphenylpyruvic acid dioxygenase deficiency
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: IFT43
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: IFT43
disease_id: OMIM:614099
disease_name: CRANIOECTODERMAL DYSPLASIA 3
gene_symbol: IFT52
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: IFT122
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: WDR19
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: SLC25A24
disease_id: ORPHA:2963
disease_name: Progeroid syndrome, Petty type
Fontaine progeroid syndrome
Petty syndrome
Petty-Laxova-Wiedemann syndrome
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: EDA
disease_id: ORPHA:181
disease_name: X-linked hypohidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
XHED
gene_symbol: RMRP
disease_id: ORPHA:175
disease_name: Cartilage-hair hypoplasia
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: MBTPS2
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: ATP6V0A2
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: KCTD1
disease_id: ORPHA:2036
disease_name: Scalp-ear-nipple syndrome
Finlay-Marks syndrome
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: SKIC2
disease_id: OMIM:614602
disease_name: TRICHOHEPATOENTERIC SYNDROME 2
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: MESD
disease_id: OMIM:618644
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XX
gene_symbol: STING1
disease_id: OMIM:615934
disease_name: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: GJA1
disease_id: OMIM:164200
disease_name: OCULODENTODIGITAL DYSPLASIA
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: GJA1
disease_id: OMIM:104100
disease_name: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: TOGARAM1
disease_id: OMIM:619185
disease_name: JOUBERT SYNDROME 37
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
gene_symbol: SEC23A
disease_id: ORPHA:50814
disease_name: Craniolenticulosutural dysplasia
Boyadjiev-Jabs syndrome
gene_symbol: C18orf32
disease_id: OMIM:619985
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 25
gene_symbol: PARN
disease_id: OMIM:616353
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
gene_symbol: PARN
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: CARS1
disease_id: OMIM:618891
disease_name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
gene_symbol: MAPKAPK5
disease_id: OMIM:619869
disease_name: NEUROCARDIOFACIODIGITAL SYNDROME
gene_symbol: SATB2
disease_id: OMIM:612313
disease_name: GLASS SYNDROME
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: SATB2
disease_id: ORPHA:251019
disease_name: 2q32q33 microdeletion syndrome
Del(2)(q32)
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32q33
gene_symbol: CST6
disease_id: OMIM:618535
disease_name: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE
gene_symbol: SPRED2
disease_id: OMIM:619745
disease_name: NOONAN SYNDROME 14
gene_symbol: THUMPD1
disease_id: OMIM:619989
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
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: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: IKBKG
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: IKBKG
disease_id: OMIM:300291
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
gene_symbol: PKP1
disease_id: OMIM:604536
disease_name: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME
gene_symbol: PKP1
disease_id: ORPHA:158668
disease_name: Ectodermal dysplasia-skin fragility syndrome
McGrath syndrome
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB6
disease_id: ORPHA:189
disease_name: Hidrotic ectodermal dysplasia
Clouston syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: WNT10A
disease_id: OMIM:224750
disease_name: SCHOPF-SCHULZ-PASSARGE SYNDROME
gene_symbol: WNT10A
disease_id: ORPHA:50944
disease_name: Schöpf-Schulz-Passarge syndrome
Eccrine tumors-ectodermal dysplasia
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
SSPS
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: KRAS
disease_id: OMIM:615278
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 2
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: CKAP2L
disease_id: OMIM:272440
disease_name: FILIPPI SYNDROME
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE 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: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: OFD1
disease_id: ORPHA:2750
disease_name: Orofaciodigital syndrome type 1
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: PPP1R15B
disease_id: OMIM:616817
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: FRMD4A
disease_id: OMIM:616819
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: DSG4
disease_id: OMIM:607903
disease_name: HYPOTRICHOSIS 6
gene_symbol: DSG4
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: DSG4
disease_id: ORPHA:55654
disease_name: Hypotrichosis simplex
Hereditary hypotrichosis simplex
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: SNRPE
disease_id: OMIM:615059
disease_name: HYPOTRICHOSIS 11
gene_symbol: SNRPE
disease_id: ORPHA:55654
disease_name: Hypotrichosis simplex
Hereditary hypotrichosis simplex
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: TWIST2
disease_id: ORPHA:920
disease_name: Ablepharon macrostomia syndrome
gene_symbol: TWIST2
disease_id: ORPHA:1807
disease_name: Focal facial dermal dysplasia type III
FFDD type III
FFDD3
Focal facial dermal dysplasia 3, Setleis type
Setleis syndrome
gene_symbol: TWIST2
disease_id: OMIM:227260
disease_name: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: SMARCA2
disease_id: ORPHA:3051
disease_name: Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
gene_symbol: PRPS1
disease_id: OMIM:300661
disease_name: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
gene_symbol: DCAF17
disease_id: OMIM:241080
disease_name: WOODHOUSE-SAKATI SYNDROME
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: CBL
disease_id: OMIM:613563
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
gene_symbol: TRPS1
disease_id: ORPHA:77258
disease_name: Trichorhinophalangeal syndrome type 1
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: SLC32A1
disease_id: OMIM:620774
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114
gene_symbol: CHD6
disease_id: ORPHA:2108
disease_name: Hallermann-Streiff syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
gene_symbol: TRAF6
disease_id: ORPHA:1810
disease_name: Autosomal dominant hypohidrotic ectodermal dysplasia
AD-HED
Autosomal dominant anhidrotic ectodermal dysplasia
gene_symbol: KDF1
disease_id: ORPHA:1810
disease_name: Autosomal dominant hypohidrotic ectodermal dysplasia
AD-HED
Autosomal dominant anhidrotic ectodermal dysplasia
gene_symbol: EDAR
disease_id: ORPHA:1810
disease_name: Autosomal dominant hypohidrotic ectodermal dysplasia
AD-HED
Autosomal dominant anhidrotic ectodermal dysplasia
gene_symbol: EDAR
disease_id: OMIM:129490
disease_name: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
gene_symbol: EDAR
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: TGM1
disease_id: OMIM:242300
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
gene_symbol: TGM1
disease_id: ORPHA:100976
disease_name: Bathing suit ichthyosis
BSI
gene_symbol: TGM1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: APCDD1
disease_id: OMIM:605389
disease_name: HYPOTRICHOSIS 1
gene_symbol: APCDD1
disease_id: ORPHA:55654
disease_name: Hypotrichosis simplex
Hereditary hypotrichosis simplex
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: TINF2
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
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
gene_symbol: TINF2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: GATAD2B
disease_id: OMIM:615074
disease_name: GAND SYNDROME
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: RNU4ATAC
disease_id: ORPHA:2636
disease_name: Microcephalic osteodysplastic primordial dwarfism types I and III
MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
gene_symbol: FOSL2
disease_id: OMIM:620789
disease_name: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
gene_symbol: ST14
disease_id: ORPHA:91132
disease_name: Ichthyosis-hypotrichosis syndrome
Hypotrichosis-congenital ichthyosis syndrome
IFAH syndrome
IHS
Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
gene_symbol: ST14
disease_id: OMIM:602400
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: HSPA9
disease_id: OMIM:616854
disease_name: EVEN-PLUS SYNDROME
gene_symbol: NRAS
disease_id: OMIM:613224
disease_name: NOONAN SYNDROME 6
gene_symbol: DSC3
disease_id: OMIM:613102
disease_name: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
gene_symbol: CDH1
disease_id: OMIM:119580
disease_name: BLEPHAROCHEILODONTIC SYNDROME 1
gene_symbol: PERP
disease_id: OMIM:619208
disease_name: OLMSTED SYNDROME 2
gene_symbol: PERP
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: TRPV3
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: TRPV3
disease_id: OMIM:614594
disease_name: OLMSTED SYNDROME 1
gene_symbol: TERC
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERC
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TERT
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERT
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: ERCC2
disease_id: OMIM:610756
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 2
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: KRT86
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT86
disease_id: OMIM:158000
disease_name: MONILETHRIX
gene_symbol: KRT83
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT81
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: AARS1
disease_id: OMIM:619691
disease_name: TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE
gene_symbol: AXIN2
disease_id: ORPHA:401911
disease_name: AXIN2-related attenuated familial adenomatous polyposis
AXIN2-related AFAP
AXIN2-related attenuated FAP
AXIN2-related attenuated familial polyposis coli
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: POP1
disease_id: OMIM:617396
disease_name: ANAUXETIC DYSPLASIA 2
gene_symbol: MARS1
disease_id: OMIM:619692
disease_name: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE
gene_symbol: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: BCORL1
disease_id: OMIM:301029
disease_name: SHUKLA-VERNON SYNDROME
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: KRT71
disease_id: OMIM:615896
disease_name: HYPOTRICHOSIS 13
gene_symbol: HR
disease_id: OMIM:209500
disease_name: ATRICHIA WITH PAPULAR LESIONS
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
gene_symbol: ATP7A
disease_id: ORPHA:565
disease_name: Menkes disease
MD
Menkes kinky hair disease
Menkes syndrome
gene_symbol: ATP7A
disease_id: OMIM:309400
disease_name: MENKES DISEASE
gene_symbol: COL11A1
disease_id: ORPHA:560
disease_name: Marshall syndrome
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: CLMP
disease_id: ORPHA:2301
disease_name: Congenital short bowel syndrome
gene_symbol: FLNA
disease_id: ORPHA:2301
disease_name: Congenital short bowel syndrome
gene_symbol: PLCB4
disease_id: OMIM:620458
disease_name: AURICULOCONDYLAR SYNDROME 2B
gene_symbol: ASPRV1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ALOX12B
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: CYP4F22
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SULT2B1
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ABCA12
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: LIPN
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: ALOXE3
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: NIPAL4
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: SDR9C7
disease_id: ORPHA:313
disease_name: Lamellar ichthyosis
LI
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: LIPH
disease_id: OMIM:604379
disease_name: HYPOTRICHOSIS 7
gene_symbol: LIPH
disease_id: ORPHA:55654
disease_name: Hypotrichosis simplex
Hereditary hypotrichosis simplex
gene_symbol: ZMPSTE24
disease_id: OMIM:608612
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: KRT25
disease_id: OMIM:616760
disease_name: WOOLLY HAIR, AUTOSOMAL RECESSIVE 3
gene_symbol: RNF113A
disease_id: OMIM:300953
disease_name: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
gene_symbol: ATP2B1
disease_id: OMIM:619910
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: LSS
disease_id: ORPHA:55654
disease_name: Hypotrichosis simplex
Hereditary hypotrichosis simplex
gene_symbol: LSS
disease_id: OMIM:618275
disease_name: HYPOTRICHOSIS 14
gene_symbol: RPL21
disease_id: ORPHA:55654
disease_name: Hypotrichosis simplex
Hereditary hypotrichosis simplex
gene_symbol: LPAR6
disease_id: ORPHA:55654
disease_name: Hypotrichosis simplex
Hereditary hypotrichosis simplex
gene_symbol: MPLKIP
disease_id: OMIM:234050
disease_name: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
gene_symbol: EDA2R
disease_id: ORPHA:181
disease_name: X-linked hypohidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
XHED
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: CEP57
disease_id: OMIM:614114
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: RBPJ
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: NOTCH1
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: ARHGAP31
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DOCK6
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: EOGT
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DLL4
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: CLDN1
disease_id: OMIM:607626
disease_name: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS
gene_symbol: WNT10B
disease_id: OMIM:617073
disease_name: TOOTH AGENESIS, SELECTIVE, 8
gene_symbol: PIK3R1
disease_id: ORPHA:3163
disease_name: SHORT syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: ATP6V1A
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: LMNA
disease_id: ORPHA:363618
disease_name: LMNA-related cardiocutaneous progeria syndrome
LCPS
gene_symbol: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: DNMT3A
disease_id: OMIM:618724
disease_name: HEYN-SPROUL-JACKSON SYNDROME
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: NSRP1
disease_id: OMIM:620001
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: XYLT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CANT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CSGALNACT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: BRCA1
disease_id: OMIM:617883
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP S
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NHP2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: USB1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: WRAP53
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: RTEL1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NPM1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NOP10
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: DKC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TYMS
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: B3GALT6
disease_id: OMIM:615349
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS