TaoMedAI/RareMedData huggingface dataset:
Phenotype: Palmoplantar cutis laxa (HP:0007517)
Associated genes and diseases:
gene_symbol: C1R
disease_id: OMIM:130080
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
gene_symbol: FGFR3
disease_id: OMIM:616482
disease_name: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
gene_symbol: MRAS
disease_id: OMIM:618499
disease_name: NOONAN SYNDROME 11
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: ZNF469
disease_id: OMIM:229200
disease_name: BRITTLE CORNEA SYNDROME 1
gene_symbol: RIT1
disease_id: OMIM:615355
disease_name: NOONAN SYNDROME 8
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
Phenotype: Stippled calcification in carpal bones (HP:0004241)
Associated genes and diseases:
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: SLC34A2
disease_id: ORPHA:60025
disease_name: Pulmonary alveolar microlithiasis
Phenotype: Broad carpal bones (HP:0004242)
Associated genes and diseases:
gene_symbol: DYM
disease_id: ORPHA:239
disease_name: Dyggve-Melchior-Clausen disease
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
Phenotype: Abnormal scaphoid morphology (HP:0004243)
Associated genes and diseases:
gene_symbol: LMBR1
disease_id: ORPHA:93321
disease_name: Isolated radial hemimelia
Isolated congenital longitudinal deficiency of the radius
Isolated radial club hand
Isolated radial longitidinal meromelia
Isolated radial ray agenesis
gene_symbol: SHH
disease_id: ORPHA:93321
disease_name: Isolated radial hemimelia
Isolated congenital longitudinal deficiency of the radius
Isolated radial club hand
Isolated radial longitidinal meromelia
Isolated radial ray agenesis
Phenotype: Sclerotic foci within carpal bones (HP:0004240)
Associated genes and diseases:
gene_symbol: LEMD3
disease_id: ORPHA:166119
disease_name: Isolated osteopoikilosis
Phenotype: Increased number of skin folds (HP:0007522)
Associated genes and diseases:
gene_symbol: TUBB
disease_id: ORPHA:2505
disease_name: Multiple benign circumferential skin creases on limbs
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
gene_symbol: MAPRE2
disease_id: ORPHA:2505
disease_name: Multiple benign circumferential skin creases on limbs
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: GGCX
disease_id: ORPHA:436274
disease_name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
PXE-like syndrome with retinitis pigmentosa
Phenotype: Atypical neurofibromatosis (HP:0007524)
Associated genes and diseases:
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
Phenotype: Yellow subcutaneous tissue covered by thin, scaly skin (HP:0007525)
Associated genes and diseases:
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
Phenotype: Hypopigmented skin patches on arms (HP:0007526)
Associated genes and diseases:
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
Phenotype: Hidrotic ectodermal dysplasia (HP:0007529)
Associated genes and diseases:
gene_symbol: ATP6V1B2
disease_id: OMIM:124480
disease_name: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
Phenotype: Abnormal trapezium morphology (HP:0004252)
Associated genes and diseases:
gene_symbol: LMBR1
disease_id: ORPHA:93321
disease_name: Isolated radial hemimelia
Isolated congenital longitudinal deficiency of the radius
Isolated radial club hand
Isolated radial longitidinal meromelia
Isolated radial ray agenesis
gene_symbol: SHH
disease_id: ORPHA:93321
disease_name: Isolated radial hemimelia
Isolated congenital longitudinal deficiency of the radius
Isolated radial club hand
Isolated radial longitidinal meromelia
Isolated radial ray agenesis
Phenotype: Abnormal hamate bone morphology (HP:0004259)
Associated genes and diseases:
gene_symbol: PRKACA
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PRKACB
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: DYNC2LI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
Phenotype: Punctate palmoplantar hyperkeratosis (HP:0007530)
Associated genes and diseases:
gene_symbol: ENPP1
disease_id: OMIM:615522
disease_name: COLE DISEASE
gene_symbol: ATP2A2
disease_id: OMIM:101900
disease_name: ACROKERATOSIS VERRUCIFORMIS
gene_symbol: ATP2A2
disease_id: ORPHA:79151
disease_name: Acrokeratosis verruciformis of Hopf
AKV of Hopf
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: AAGAB
disease_id: OMIM:148600
disease_name: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA
gene_symbol: KRT5
disease_id: OMIM:131960
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
Phenotype: Excessive wrinkling of palmar skin (HP:0007605)
Associated genes and diseases:
gene_symbol: C1R
disease_id: OMIM:130080
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
gene_symbol: FGFR3
disease_id: OMIM:616482
disease_name: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
gene_symbol: MRAS
disease_id: OMIM:618499
disease_name: NOONAN SYNDROME 11
gene_symbol: PLOD1
disease_id: OMIM:225400
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: ZNF469
disease_id: OMIM:229200
disease_name: BRITTLE CORNEA SYNDROME 1
gene_symbol: RIT1
disease_id: OMIM:615355
disease_name: NOONAN SYNDROME 8
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: TGM5
disease_id: ORPHA:263534
disease_name: Acral peeling skin syndrome
Acral PSS
Localized PSS
PSS 2
Peeling skin syndrome 2
gene_symbol: CSTA
disease_id: ORPHA:263534
disease_name: Acral peeling skin syndrome
Acral PSS
Localized PSS
PSS 2
Peeling skin syndrome 2
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
Phenotype: Congenital posterior occipital alopecia (HP:0007534)
Associated genes and diseases:
gene_symbol: HRAS
disease_id: ORPHA:79414
disease_name: Woolly hair nevus
Wooly hair nevus
Phenotype: Severe photosensitivity (HP:0007537)
Associated genes and diseases:
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: NHLRC1
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: EPM2A
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
Phenotype: Abnormal capitate bone morphology (HP:0004262)
Associated genes and diseases:
gene_symbol: PRKACA
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PRKACB
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: DYNC2LI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
Phenotype: Narrow small joints of the hand (HP:0004267)
Associated genes and diseases:
gene_symbol: CCN6
disease_id: ORPHA:1159
disease_name: Progressive pseudorheumatoid dysplasia
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Phenotype: Osteoarthritis of the small joints of the hand (HP:0004268)
Associated genes and diseases:
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: MATN3
disease_id: ORPHA:93311
disease_name: Multiple epiphyseal dysplasia type 5
BHMED
Bilateral hereditary micro-epiphyseal dysplasia
EDM5
MED5
Polyepiphyseal dysplasia type 5
gene_symbol: TRPV4
disease_id: ORPHA:85169
disease_name: Familial digital arthropathy-brachydactyly
gene_symbol: ASPN
disease_id: OMIM:607850
disease_name: OSTEOARTHRITIS SUSCEPTIBILITY 3
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
Phenotype: Frontal cutaneous lipoma (HP:0007541)
Associated genes and diseases:
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
Phenotype: Absent pigmentation of the ventral chest (HP:0007542)
Associated genes and diseases:
gene_symbol: KIT
disease_id: OMIM:172800
disease_name: PIEBALD TRAIT
Phenotype: Piebald skin depigmentation (HP:0007544)
Associated genes and diseases:
gene_symbol: SNAI2
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: KIT
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: KIT
disease_id: OMIM:172800
disease_name: PIEBALD TRAIT
Phenotype: Congenital palmoplantar hyperkeratosis (HP:0007545)
Associated genes and diseases:
gene_symbol: VPS33B
disease_id: OMIM:620009
disease_name: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: SMARCAD1
disease_id: OMIM:181600
disease_name: HURIEZ SYNDROME
gene_symbol: CTSC
disease_id: OMIM:245010
disease_name: HAIM-MUNK SYNDROME
Phenotype: Linear hyperpigmentation (HP:0007546)
Associated genes and diseases:
gene_symbol: FGFR1
disease_id: OMIM:613001
disease_name: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated genes and diseases:
gene_symbol: TGM1
disease_id: OMIM:242300
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1
gene_symbol: FLG
disease_id: ORPHA:461
disease_name: Recessive X-linked ichthyosis
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
gene_symbol: STS
disease_id: ORPHA:461
disease_name: Recessive X-linked ichthyosis
RXLI
Steroid sulfatase deficiency
X-linked ichthyosis
XLI
gene_symbol: HLCS
disease_id: ORPHA:79242
disease_name: Holocarboxylase synthetase deficiency
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
gene_symbol: RMRP
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: CHD7
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: LIG4
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG2
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL7R
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL2RG
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: GBA1
disease_id: OMIM:608013
disease_name: GAUCHER DISEASE, PERINATAL LETHAL
gene_symbol: SLC27A4
disease_id: ORPHA:88621
disease_name: Ichthyosis-prematurity syndrome
Congenital ichthyosis type 4
IPS
Phenotype: Cupped metaphyses of hand bones (HP:0004273)
Associated genes and diseases:
gene_symbol: PHEX
disease_id: OMIM:307800
disease_name: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
Phenotype: Bullet-shaped phalanges of the hand (HP:0009769)
Associated genes and diseases:
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
Phenotype: Abnormal subcutaneous fat tissue distribution (HP:0007552)
Associated genes and diseases:
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: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: TGFB1
disease_id: ORPHA:1328
disease_name: Camurati-Engelmann disease
Progressive diaphyseal dysplasia
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: 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: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Congenital symmetrical palmoplantar keratosis (HP:0007553)
Associated genes and diseases:
gene_symbol: SLURP1
disease_id: OMIM:248300
disease_name: MAL DE MELEDA
Phenotype: Localized epidermolytic hyperkeratosis (HP:0007559)
Associated genes and diseases:
gene_symbol: TGM1
disease_id: ORPHA:281127
disease_name: Acral self-healing collodion baby
Acral SHCB
gene_symbol: KRT9
disease_id: OMIM:144200
disease_name: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
Phenotype: Irregular sclerosis of hand bones (HP:0004281)
Associated genes and diseases:
gene_symbol: LEMD3
disease_id: ORPHA:166119
disease_name: Isolated osteopoikilosis
gene_symbol: GJA1
disease_id: OMIM:218400
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
Phenotype: Narrow palm (HP:0004283)
Associated genes and diseases:
gene_symbol: SNRPN
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: NDN
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: MAGEL2
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: VPS13B
disease_id: ORPHA:193
disease_name: Cohen syndrome
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
gene_symbol: AUTS2
disease_id: ORPHA:352490
disease_name: Autism spectrum disorder due to AUTS2 deficiency
ASD due to AUTS2 deficiency
AUTS2 syndrome
gene_symbol: DPYSL5
disease_id: OMIM:619435
disease_name: RITSCHER-SCHINZEL SYNDROME 4
gene_symbol: UBE3B
disease_id: OMIM:244450
disease_name: KAUFMAN OCULOCEREBROFACIAL SYNDROME
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
Phenotype: Patchy sclerosis of hand bones (HP:0004286)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: OMIM:218400
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
Phenotype: Pseudoepiphyses of hand bones (HP:0004288)
Associated genes and diseases:
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: NKX3-2
disease_id: OMIM:613330
disease_name: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: KCNH1
disease_id: OMIM:611816
disease_name: TEMPLE-BARAITSER SYNDROME
gene_symbol: NPR3
disease_id: OMIM:619543
disease_name: BOUDIN-MORTIER SYNDROME
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
Phenotype: Sclerotic foci in hand bones (HP:0004289)
Associated genes and diseases:
gene_symbol: LEMD3
disease_id: ORPHA:166119
disease_name: Isolated osteopoikilosis
Phenotype: Irregular ossification of hand bones (HP:0004280)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
Phenotype: Generalized seborrheic dermatitis (HP:0007569)
Associated genes and diseases:
gene_symbol: C5
disease_id: OMIM:609536
disease_name: COMPLEMENT COMPONENT 5 DEFICIENCY
Phenotype: Abnormal gastrointestinal vascular morphology (HP:0004296)
Associated genes and diseases:
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: GDF2
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: SMAD4
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: GLMN
disease_id: ORPHA:83454
disease_name: Glomuvenous malformation
Glomangiomatosis
Hereditary multiple glomangiomas
Multiple glomus tumors
VMGLOM
Venous malformations with glomus cells
Phenotype: Hyperpigmented streaks (HP:0007572)
Associated genes and diseases:
gene_symbol: KRAS
disease_id: OMIM:600268
disease_name: OCULOECTODERMAL SYNDROME
gene_symbol: NDUFB11
disease_id: OMIM:300952
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
Phenotype: Generalized bronze hyperpigmentation (HP:0007574)
Associated genes and diseases:
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
gene_symbol: BMP6
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: HFE
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1