TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormality of abdominal situs (HP:0011620)
Associated genes and diseases:
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NSD2
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CCDC32
disease_id: OMIM:619123
disease_name: CARDIOFACIONEURODEVELOPMENTAL SYNDROME
gene_symbol: PKD1L1
disease_id: OMIM:617205
disease_name: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
gene_symbol: CFAP52
disease_id: OMIM:619607
disease_name: HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY
gene_symbol: ACTG2
disease_id: ORPHA:2604
disease_name: Familial visceral myopathy
Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis
gene_symbol: FOXJ1
disease_id: OMIM:618699
disease_name: CILIARY DYSKINESIA, PRIMARY, 43
gene_symbol: CFAP53
disease_id: OMIM:614779
disease_name: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
gene_symbol: CLXN
disease_id: OMIM:620642
disease_name: CILIARY DYSKINESIA, PRIMARY, 53
gene_symbol: CFC1
disease_id: OMIM:605376
disease_name: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
gene_symbol: CHD6
disease_id: ORPHA:2108
disease_name: Hallermann-Streiff syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
gene_symbol: DAW1
disease_id: OMIM:620570
disease_name: CILIARY DYSKINESIA, PRIMARY, 52
gene_symbol: DNAAF5
disease_id: OMIM:614874
disease_name: CILIARY DYSKINESIA, PRIMARY, 18
gene_symbol: SMAD2
disease_id: OMIM:619657
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: ODAD4
disease_id: OMIM:617092
disease_name: CILIARY DYSKINESIA, PRIMARY, 35
gene_symbol: GDF1
disease_id: OMIM:208530
disease_name: RIGHT ATRIAL ISOMERISM
Phenotype: Inlet ventricular septal defect (HP:0011622)
Associated genes and diseases:
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
Phenotype: Apical muscular ventricular septal defect (HP:0011624)
Associated genes and diseases:
gene_symbol: STAG2
disease_id: OMIM:301022
disease_name: MULLEGAMA-KLEIN-MARTINEZ SYNDROME
Phenotype: Multiple muscular ventricular septal defects (HP:0011625)
Associated genes and diseases:
gene_symbol: DPH5
disease_id: OMIM:620070
disease_name: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES
gene_symbol: MYCN
disease_id: ORPHA:391641
disease_name: Feingold syndrome type 1
Brunner-Winter syndrome type 1
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
FGLDS1
FS1
MMT type 1
MODED syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ODED syndrome type 1
Oculo-digito-esophageal-duodenal syndrome type 1
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
Phenotype: Scimitar anomaly (HP:0011626)
Associated genes and diseases:
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: WT1
disease_id: OMIM:608978
disease_name: MEACHAM SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Congenital defect of the pericardium (HP:0011628)
Associated genes and diseases:
gene_symbol: GATA6
disease_id: ORPHA:2255
disease_name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PACHD
Pancreatic agenesis and congenital heart defects syndrome
Yorifuji-Okuno syndrome
Phenotype: Total absence of the pericardium (HP:0011629)
Associated genes and diseases:
gene_symbol: GATA6
disease_id: OMIM:600001
disease_name: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
Phenotype: Abnormal epidermal protein expression (HP:0034573)
Associated genes and diseases:
gene_symbol: ECM1
disease_id: OMIM:247100
disease_name: LIPOID PROTEINOSIS OF URBACH AND WIETHE
gene_symbol: FERMT1
disease_id: OMIM:173650
disease_name: KINDLER SYNDROME
Phenotype: Abnormal coronary artery origin (HP:0011636)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: NADSYN1
disease_id: OMIM:618845
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: TBX1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: NKX2-6
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
Phenotype: Anomalous origin of coronary artery from the pulmonary artery (HP:0011637)
Associated genes and diseases:
gene_symbol: NADSYN1
disease_id: OMIM:618845
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Phenotype: Anomalous origin of left coronary artery from the pulmonary artery (HP:0011638)
Associated genes and diseases:
gene_symbol: NADSYN1
disease_id: OMIM:618845
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3
Phenotype: Anomalous origin of right coronary artery from the pulmonary artery (HP:0011639)
Associated genes and diseases:
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Phenotype: Glutathionuria (HP:0034586)
Associated genes and diseases:
gene_symbol: GGT1
disease_id: OMIM:231950
disease_name: GLUTATHIONURIA
Phenotype: Cochlear nerve hypoplasia (HP:0034585)
Associated genes and diseases:
gene_symbol: USP48
disease_id: OMIM:620227
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 85
gene_symbol: AIFM1
disease_id: OMIM:300614
disease_name: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY
Phenotype: Crypt hyperplasia (HP:0034588)
Associated genes and diseases:
gene_symbol: EPCAM
disease_id: OMIM:613217
disease_name: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
Phenotype: Nevus psiloliparus (HP:0034587)
Associated genes and diseases:
gene_symbol: FGFR1
disease_id: OMIM:613001
disease_name: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
Phenotype: Increased circulating dehydroepiandrosterone-sulfate concentration (HP:0034589)
Associated genes and diseases:
gene_symbol: HSD3B2
disease_id: OMIM:201810
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY
gene_symbol: WNT4
disease_id: OMIM:158330
disease_name: MULLERIAN APLASIA AND HYPERANDROGENISM
Phenotype: Absent toenail (HP:0001802)
Associated genes and diseases:
gene_symbol: GPC4
disease_id: OMIM:301026
disease_name: KEIPERT SYNDROME
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: KRT14
disease_id: ORPHA:89838
disease_name: Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive generalized EBS
gene_symbol: COL7A1
disease_id: ORPHA:231568
disease_name: Autosomal dominant generalized dystrophic epidermolysis bullosa
Generalized DDEB
gene_symbol: COL7A1
disease_id: ORPHA:158676
disease_name: Localized dystrophic epidermolysis bullosa, nails only
Localized DEB, nails only
gene_symbol: COL7A1
disease_id: ORPHA:89842
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Generalized RDEB, intermediate form
RDEB, non-Hallopeau-Siemens type
gene_symbol: DSP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: JUP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: BCR
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: CRKL
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: MAPK1
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: WNT7A
disease_id: OMIM:228930
disease_name: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
gene_symbol: NOTCH1
disease_id: OMIM:616028
disease_name: ADAMS-OLIVER SYNDROME 5
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: ATP6V1B2
disease_id: OMIM:124480
disease_name: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: ATP6V1B2
disease_id: ORPHA:79499
disease_name: Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hearing loss-onychodystrophy syndrome
DDOD syndrome
gene_symbol: LRP4
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: KCNH1
disease_id: ORPHA:420561
disease_name: Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
gene_symbol: ARID1A
disease_id: OMIM:614607
disease_name: COFFIN-SIRIS SYNDROME 2
gene_symbol: PIGF
disease_id: OMIM:619356
disease_name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Phenotype: Single coronary artery origin (HP:0011640)
Associated genes and diseases:
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: TBX1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: NKX2-6
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
Phenotype: Coronary artery fistula (HP:0011641)
Associated genes and diseases:
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: PPFIBP1
disease_id: OMIM:620024
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
Phenotype: Abnormal coronary sinus morphology (HP:0011642)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: SMG8
disease_id: OMIM:619268
disease_name: ALZAHRANI-KUWAHARA SYNDROME
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Dilatation of the sinus of Valsalva (HP:0011645)
Associated genes and diseases:
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
Phenotype: Patent ductus arteriosus after birth at term (HP:0011648)
Associated genes and diseases:
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
gene_symbol: CALM3
disease_id: OMIM:618782
disease_name: LONG QT SYNDROME 16
Phenotype: Patent ductus arteriosus after premature birth (HP:0011649)
Associated genes and diseases:
gene_symbol: STX5
disease_id: OMIM:620454
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
Phenotype: Split nail (HP:0001809)
Associated genes and diseases:
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
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
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
Phenotype: Onycholysis (HP:0001806)
Associated genes and diseases:
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: WNT10A
disease_id: OMIM:224750
disease_name: SCHOPF-SCHULZ-PASSARGE SYNDROME
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: FZD6
disease_id: OMIM:161050
disease_name: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: HLA-C
disease_id: OMIM:177900
disease_name: PSORIASIS 1, SUSCEPTIBILITY TO
gene_symbol: ATR
disease_id: OMIM:614564
disease_name: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
gene_symbol: UROD
disease_id: OMIM:176100
disease_name: PORPHYRIA CUTANEA TARDA
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: KRT74
disease_id: OMIM:614929
disease_name: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
gene_symbol: KRT85
disease_id: OMIM:602032
disease_name: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
gene_symbol: GJB6
disease_id: OMIM:129500
disease_name: CLOUSTON SYNDROME
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
gene_symbol: DSG1
disease_id: OMIM:148700
disease_name: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE
gene_symbol: COL7A1
disease_id: ORPHA:231568
disease_name: Autosomal dominant generalized dystrophic epidermolysis bullosa
Generalized DDEB
gene_symbol: COL7A1
disease_id: ORPHA:158673
disease_name: Localized dystrophic epidermolysis bullosa, acral form
Localized DEB, acral form
gene_symbol: LAMA3
disease_id: OMIM:245660
disease_name: LARYNGOONYCHOCUTANEOUS SYNDROME
gene_symbol: ITGB4
disease_id: OMIM:619816
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
gene_symbol: KRT5
disease_id: OMIM:619594
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
Phenotype: Nail pits (HP:0001803)
Associated genes and diseases:
gene_symbol: MSX1
disease_id: OMIM:189500
disease_name: WITKOP SYNDROME
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: FOXN1
disease_id: ORPHA:169095
disease_name: Severe combined immunodeficiency due to FOXN1 deficiency
Alymphoid cystic thymic dysgenesis
Nude/SCID
Nude/severe combined immunodeficiency
SCID due to FOXN1 deficiency
Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
Winged helix deficiency
gene_symbol: FOXN1
disease_id: OMIM:601705
disease_name: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: HLA-C
disease_id: OMIM:177900
disease_name: PSORIASIS 1, SUSCEPTIBILITY TO
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: TP63
disease_id: ORPHA:978
disease_name: ADULT syndrome
Acro-dermato-ungual-lacrimal-tooth syndrome
Pigment anomaly-ectrodactyly-hypodontia syndrome
gene_symbol: TP63
disease_id: OMIM:103285
disease_name: ADULT SYNDROME
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: KLK11
disease_id: OMIM:620507
disease_name: ICHTHYOSIS WITH ERYTHROKERATODERMA
gene_symbol: LPAR6
disease_id: OMIM:278150
disease_name: HYPOTRICHOSIS 8
gene_symbol: CTSC
disease_id: ORPHA:2342
disease_name: Haim-Munk syndrome
Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: TERC
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERT
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
Phenotype: Elevated circulating calprotectin concentration (HP:6000502)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
Phenotype: Ruffled acrosome (HP:6000501)
Associated genes and diseases:
gene_symbol: ACR
disease_id: OMIM:620500
disease_name: SPERMATOGENIC FAILURE 87
gene_symbol: ACTL7A
disease_id: OMIM:620499
disease_name: SPERMATOGENIC FAILURE 86
Phenotype: Radioulnar subluxation (HP:6000506)
Associated genes and diseases:
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
Phenotype: Elevated CSF L-2-hydroxyglutaric acid concentration (HP:6000509)
Associated genes and diseases:
gene_symbol: SLC25A1
disease_id: OMIM:615182
disease_name: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
Phenotype: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (HP:0011651)
Associated genes and diseases:
gene_symbol: MCTP2
disease_id: ORPHA:1596
disease_name: Distal deletion 15q syndrome
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
Phenotype: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis (HP:0011658)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
Phenotype: Thin nail (HP:0001816)
Associated genes and diseases:
gene_symbol: ALOXE3
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: ALOX12B
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: WNT10A
disease_id: OMIM:224750
disease_name: SCHOPF-SCHULZ-PASSARGE SYNDROME
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: EZH2
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: ANAPC1
disease_id: OMIM:618625
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 1
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: NSD1
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: SUZ12
disease_id: ORPHA:3447
disease_name: Weaver syndrome
EZH2-related overgrowth syndrome
Syndrome d'hypercroissance associé à EZH2
gene_symbol: RNU12
disease_id: ORPHA:85199
disease_name: Craniosynostosis-anal anomalies-porokeratosis syndrome
CAP syndrome
CDAGS syndrome
gene_symbol: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: MSX1
disease_id: ORPHA:2228
disease_name: Hypodontia-dysplasia of nails syndrome
Hypodontia-nail dysgenesis syndrome
Tooth and nail syndrome
Witkop syndrome