TaoMedAI/RareMedData huggingface dataset:
Phenotype: Trident hand (HP:0004060)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:146000
disease_name: HYPOCHONDROPLASIA
gene_symbol: FGFR3
disease_id: ORPHA:15
disease_name: Achondroplasia
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
Phenotype: Symphalangism of the thumb (HP:0009656)
Associated genes and diseases:
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
Phenotype: Diffuse swelling of cerebral white matter (HP:0007341)
Associated genes and diseases:
gene_symbol: HEPACAM
disease_id: ORPHA:2478
disease_name: Megalencephalic leukoencephalopathy with subcortical cysts
MLC
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
gene_symbol: HEPACAM
disease_id: OMIM:604004
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
gene_symbol: HEPACAM
disease_id: OMIM:613925
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
gene_symbol: HEPACAM
disease_id: OMIM:613926
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION
gene_symbol: MLC1
disease_id: ORPHA:2478
disease_name: Megalencephalic leukoencephalopathy with subcortical cysts
MLC
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
gene_symbol: MLC1
disease_id: OMIM:604004
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated genes and diseases:
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC8
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC6
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: KARS1
disease_id: ORPHA:3240
disease_name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
Phenotype: Hypoplasia of the pyramidal tract (HP:0007348)
Associated genes and diseases:
gene_symbol: FKTN
disease_id: OMIM:253800
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
Phenotype: Triangular shaped thumb phalanx (HP:0009657)
Associated genes and diseases:
gene_symbol: KCNH1
disease_id: ORPHA:420561
disease_name: Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
Phenotype: Abnormality of thumb epiphysis (HP:0009599)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: ORPHA:93384
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
Phenotype: Abnormality of the proximal phalanx of the thumb (HP:0009618)
Associated genes and diseases:
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: BMPR1B
disease_id: OMIM:616849
disease_name: BRACHYDACTYLY, TYPE A1, D
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
Phenotype: Absent proximal phalanx of thumb (HP:0009637)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
Phenotype: Complete duplication of proximal phalanx of the thumb (HP:0009608)
Associated genes and diseases:
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
Phenotype: Short proximal phalanx of thumb (HP:0009638)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: BMPR1B
disease_id: OMIM:616849
disease_name: BRACHYDACTYLY, TYPE A1, D
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
Phenotype: Cerebellar calcifications (HP:0007352)
Associated genes and diseases:
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: JAM2
disease_id: OMIM:618824
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE
gene_symbol: JAM2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: PDGFB
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: PDGFB
disease_id: OMIM:615483
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
gene_symbol: XPR1
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: PDGFRB
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: MYORG
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: SLC20A2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: NAA60
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: CMPK2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
gene_symbol: RBBP8
disease_id: OMIM:606744
disease_name: SECKEL SYNDROME 2
gene_symbol: TREX1
disease_id: OMIM:225750
disease_name: AICARDI-GOUTIERES SYNDROME 1
Phenotype: Short distal phalanx of the thumb (HP:0009650)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular syndrome
gene_symbol: FLNA
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: MAP3K7
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: BMPR1B
disease_id: OMIM:616849
disease_name: BRACHYDACTYLY, TYPE A1, D
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
Phenotype: Broad distal phalanx of the thumb (HP:0009642)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: HOXD13
disease_id: OMIM:113200
disease_name: BRACHYDACTYLY, TYPE D
Phenotype: Abnormality of the epiphysis of the distal phalanx of the thumb (HP:0009662)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
Phenotype: Aplasia/Hypoplasia of the pyramidal tract (HP:0007363)
Associated genes and diseases:
gene_symbol: FKTN
disease_id: OMIM:253800
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
gene_symbol: ATP1A2
disease_id: OMIM:619602
disease_name: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
Phenotype: Aplasia/Hypoplasia involving the corticospinal tracts (HP:0007365)
Associated genes and diseases:
gene_symbol: PDHB
disease_id: ORPHA:255138
disease_name: Pyruvate dehydrogenase E1-beta deficiency
PDHBD
Pyruvate dehydrogenase complex E1 component subunit beta deficiency
gene_symbol: L1CAM
disease_id: OMIM:307000
disease_name: HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS
Phenotype: Curved fingers (HP:0004095)
Associated genes and diseases:
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
Phenotype: Macrodactyly (HP:0004099)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: OMIM:613089
disease_name: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
gene_symbol: PIK3CA
disease_id: OMIM:612918
disease_name: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
gene_symbol: PIK3CA
disease_id: ORPHA:276280
disease_name: Hemihyperplasia-multiple lipomatosis syndrome
HHML
gene_symbol: PIK3CA
disease_id: ORPHA:140944
disease_name: CLOVES syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:168984
disease_name: CLAPO syndrome
gene_symbol: PIK3CA
disease_id: OMIM:155500
disease_name: MACRODACTYLY
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Abnormal choroid plexus morphology (HP:0007376)
Associated genes and diseases:
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: NPHP3
disease_id: OMIM:267010
disease_name: MECKEL SYNDROME, TYPE 7
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: IFT43
disease_id: OMIM:617866
disease_name: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
gene_symbol: ZBTB18
disease_id: OMIM:612337
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: CTSC
disease_id: OMIM:245000
disease_name: PAPILLON-LEFEVRE SYNDROME
gene_symbol: TP53
disease_id: OMIM:202300
disease_name: ADRENOCORTICAL CARCINOMA, HEREDITARY
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: SMARCB1
disease_id: OMIM:609322
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 1
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: NRAS
disease_id: OMIM:249400
disease_name: MELANOSIS, NEUROCUTANEOUS
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated genes and diseases:
gene_symbol: SAMD12
disease_id: OMIM:601068
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
gene_symbol: STARD7
disease_id: OMIM:607876
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
gene_symbol: SEMA6B
disease_id: OMIM:618876
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 11
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: MARCHF6
disease_id: OMIM:613608
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
gene_symbol: YEATS2
disease_id: OMIM:615127
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4
gene_symbol: TBC1D24
disease_id: OMIM:608105
disease_name: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP
gene_symbol: TBC1D24
disease_id: ORPHA:163727
disease_name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rolandic epilepsy exercise-induced dystonia
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: TIMM8A
disease_id: ORPHA:52368
disease_name: Mohr-Tranebjaerg syndrome
DDON syndrome
Deafness-dystonia-optic neuronopathy syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: PRPS1
disease_id: ORPHA:1187
disease_name: Lethal ataxia with deafness and optic atrophy
Arts syndrome
Lethal ataxia with hearing loss and optic atrophy
gene_symbol: PLP1
disease_id: ORPHA:280219
disease_name: Pelizaeus-Merzbacher disease, classic form
Classic PMD
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
gene_symbol: GJC2
disease_id: ORPHA:320401
disease_name: Autosomal recessive spastic paraplegia type 44
SPG44
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1
gene_symbol: MORC2
disease_id: ORPHA:466768
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: HYCC1
disease_id: OMIM:610532
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 5
gene_symbol: TTPA
disease_id: OMIM:277460
disease_name: ATAXIA WITH VITAMIN 3 DEFICIENCY
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated genes and diseases:
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
Phenotype: Congenital localized absence of skin (HP:0007383)
Associated genes and diseases:
gene_symbol: BMS1
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: PLEC
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: UBA2
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: ITGB4
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: DLL4
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: COL7A1
disease_id: OMIM:132000
disease_name: EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
gene_symbol: LAMB3
disease_id: OMIM:226700
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
gene_symbol: LAMC2
disease_id: OMIM:226700
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
gene_symbol: LAMA3
disease_id: OMIM:226700
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
Phenotype: Aberrant melanosome maturation (HP:0007384)
Associated genes and diseases:
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
Phenotype: Hypoplastic sweat glands (HP:0007387)
Associated genes and diseases:
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
Phenotype: Hyperkeratosis with erythema (HP:0007390)
Associated genes and diseases:
gene_symbol: SLURP1
disease_id: ORPHA:87503
disease_name: Mal de Meleda
Keratosis palmoplantaris transgrediens of Siemens
Meleda disease
Transgrediens palmoplantar keratoderma of Siemens
Phenotype: Axillary apocrine gland hypoplasia (HP:0007397)
Associated genes and diseases:
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
Phenotype: Asymmetric, linear skin defects (HP:0007398)
Associated genes and diseases:
gene_symbol: COX7B
disease_id: OMIM:300887
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2
gene_symbol: COX7B
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: NDUFB11
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: NDUFB11
disease_id: OMIM:300952
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3
gene_symbol: HCCS
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
Phenotype: Focal manual automatism seizure (HP:0032900)
Associated genes and diseases:
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
Phenotype: Focal pedal automatism seizure (HP:0032901)
Associated genes and diseases:
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
Phenotype: Focal head nodding automatism seizure (HP:0032906)
Associated genes and diseases:
gene_symbol: SCN8A
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: SCN2A
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: PRRT2
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: KCNQ2
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: KCNQ3
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
Phenotype: Focal impaired awareness automatism seizure (HP:0032909)
Associated genes and diseases:
gene_symbol: LAMC3
disease_id: OMIM:614115
disease_name: CORTICAL MALFORMATIONS, OCCIPITAL
Phenotype: Abnormal play (HP:5200104)
Associated genes and diseases:
gene_symbol: MECP2
disease_id: OMIM:300496
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
gene_symbol: NLGN4X
disease_id: OMIM:300495
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
gene_symbol: NLGN3
disease_id: OMIM:300425
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
gene_symbol: SNRPN
disease_id: OMIM:209850
disease_name: AUTISM
Phenotype: Abnormal cardiac magnetic resonance imaging finding (HP:4000001)
Associated genes and diseases:
gene_symbol: FHOD3
disease_id: OMIM:619402
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28