TaoMedAI/RareMedData huggingface dataset:
Phenotype: Postprandial hyperglycemia (HP:0011998)
Associated genes and diseases:
gene_symbol: INSR
disease_id: ORPHA:508
disease_name: Leprechaunism
Donohue syndrome
gene_symbol: INSR
disease_id: OMIM:262190
disease_name: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: INSR
disease_id: OMIM:246200
disease_name: DONOHUE SYNDROME
gene_symbol: GYS2
disease_id: ORPHA:2089
disease_name: Glycogen storage disease due to hepatic glycogen synthase deficiency
GSD due to hepatic glycogen synthase deficiency
GSD type 0a
Glycogen storage disease due to liver glycogen synthase deficiency
Glycogen storage disease type 0a
Glycogenosis type 0a
gene_symbol: GYS2
disease_id: OMIM:240600
disease_name: GLYCOGEN STORAGE DISEASE 0, LIVER
gene_symbol: SLC2A2
disease_id: ORPHA:2088
disease_name: Fanconi-Bickel syndrome
GSD due to GLUT2 deficiency
Glycogen storage disease due to GLUT2 deficiency
Glycogenosis due to GLUT2 deficiency
gene_symbol: SLC2A2
disease_id: OMIM:227810
disease_name: FANCONI-BICKEL SYNDROME
gene_symbol: SCN4A
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: KCNE3
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: SHPK
disease_id: ORPHA:440713
disease_name: Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
Phenotype: Paranoia (HP:0011999)
Associated genes and diseases:
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: SNCA
disease_id: OMIM:605543
disease_name: PARKINSON DISEASE 4, AUTOSOMAL DOMINANT
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: PLA2G6
disease_id: ORPHA:199351
disease_name: Adult-onset dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type
PARK14
PLA2G6-related dystonia-parkinsonism
gene_symbol: ECM1
disease_id: OMIM:247100
disease_name: LIPOID PROTEINOSIS OF URBACH AND WIETHE
gene_symbol: IMPA1
disease_id: OMIM:617323
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59
gene_symbol: PRDM8
disease_id: OMIM:616640
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 10
gene_symbol: PRDM8
disease_id: ORPHA:324290
disease_name: Early-onset Lafora body disease
gene_symbol: FMO3
disease_id: ORPHA:468726
disease_name: Severe primary trimethylaminuria
TMAU
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: DGCR8
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: TBX1
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR6
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: ESS2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: PPOX
disease_id: ORPHA:79473
disease_name: Variegate porphyria
Porphyria variegata
Protoporphyrinogen oxidase deficiency
gene_symbol: HMBS
disease_id: ORPHA:79276
disease_name: Acute intermittent porphyria
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
Phenotype: Impaired neutrophil bactericidal activity (HP:0011993)
Associated genes and diseases:
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: CEBPE
disease_id: OMIM:245480
disease_name: SPECIFIC GRANULE DEFICIENCY 1
gene_symbol: GPI
disease_id: OMIM:613470
disease_name: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
Phenotype: Decreased circulating sulfate concentration (HP:6000854)
Associated genes and diseases:
gene_symbol: SLC26A1
disease_id: OMIM:620372
disease_name: HYPERSULFATURIA
Phenotype: Cold intolerance (HP:6000855)
Associated genes and diseases:
gene_symbol: PAX8
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
gene_symbol: NKX2-5
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
Phenotype: Atrial septal dilatation (HP:0011995)
Associated genes and diseases:
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: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: COG1
disease_id: ORPHA:263508
disease_name: COG1-CDG
CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg
Phenotype: Elevated coagulation factor V activity (HP:0011996)
Associated genes and diseases:
gene_symbol: AHCY
disease_id: ORPHA:88618
disease_name: S-adenosylhomocysteine hydrolase deficiency
Phenotype: Abnormal neutrophil physiology (HP:0011990)
Associated genes and diseases:
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
gene_symbol: CYBB
disease_id: OMIM:306400
disease_name: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
gene_symbol: NCF1
disease_id: OMIM:233700
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
gene_symbol: SPPL2A
disease_id: OMIM:619549
disease_name: IMMUNODEFICIENCY 86
gene_symbol: CYBA
disease_id: OMIM:233690
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: IRF8
disease_id: OMIM:226990
disease_name: IMMUNODEFICIENCY 32B
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: RAC2
disease_id: ORPHA:183707
disease_name: Infantile LAD-like disease due to RAC2 deficiency
Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency
gene_symbol: CEBPE
disease_id: OMIM:245480
disease_name: SPECIFIC GRANULE DEFICIENCY 1
gene_symbol: GPI
disease_id: OMIM:613470
disease_name: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
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: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
Phenotype: Abnormal neutrophil morphology (HP:0011992)
Associated genes and diseases:
gene_symbol: FTCD
disease_id: OMIM:229100
disease_name: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
gene_symbol: SFXN4
disease_id: OMIM:615578
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
gene_symbol: CUBN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: AMN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: SLC19A1
disease_id: OMIM:601775
disease_name: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE
gene_symbol: MTHFD1
disease_id: OMIM:617780
disease_name: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: MYH9
disease_id: ORPHA:182050
disease_name: MYH9-related disease
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: LBR
disease_id: OMIM:169400
disease_name: PELGER-HUET ANOMALY
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: CEBPE
disease_id: OMIM:245480
disease_name: SPECIFIC GRANULE DEFICIENCY 1
gene_symbol: CEBPE
disease_id: OMIM:260570
disease_name: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
gene_symbol: TET2
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: SF3B1
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: TMEM147
disease_id: OMIM:620075
disease_name: NEURODEVELOPMENTAL DISORDER WITH FACIAL DYSMORPHISM, ABSENT LANGUAGE, AND PSEUDO-PELGER-HUET ANOMALY
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: RPS14
disease_id: ORPHA:86841
disease_name: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
5q- syndrome
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: MPO
disease_id: OMIM:254600
disease_name: MYELOPEROXIDASE DEFICIENCY
Phenotype: Shortening of all proximal phalanges of the fingers (HP:0006144)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: GDF5
disease_id: OMIM:201250
disease_name: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
Phenotype: Metaphyseal cupping of metacarpals (HP:0006028)
Associated genes and diseases:
gene_symbol: COL10A1
disease_id: ORPHA:174
disease_name: Metaphyseal chondrodysplasia, Schmid type
gene_symbol: COL10A1
disease_id: OMIM:156500
disease_name: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
gene_symbol: HDAC6
disease_id: ORPHA:163966
disease_name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
gene_symbol: HDAC6
disease_id: OMIM:300863
disease_name: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: RMRP
disease_id: OMIM:250460
disease_name: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
Phenotype: Diminished tissue very long-chain acyl-CoA dehydrogenase activity (HP:6000860)
Associated genes and diseases:
gene_symbol: ACADVL
disease_id: OMIM:201475
disease_name: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
Phenotype: Transverse smile (HP:6000864)
Associated genes and diseases:
gene_symbol: FRG1
disease_id: OMIM:158900
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
Phenotype: Delayed distal femoral epiphyseal ossification (HP:6000866)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:200610
disease_name: ACHONDROGENESIS, TYPE II
Phenotype: Delayed tibial epiphyseal ossification (HP:6000867)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:200610
disease_name: ACHONDROGENESIS, TYPE II
Phenotype: Symphalangism of middle phalanx of 4th finger (HP:0009308)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Absent phalangeal crease (HP:0006109)
Associated genes and diseases:
gene_symbol: TPM2
disease_id: OMIM:108120
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1A
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: HOXD13
disease_id: OMIM:186300
disease_name: SYNDACTYLY, TYPE V
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: MET
disease_id: OMIM:620019
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 11
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: NOG
disease_id: OMIM:611377
disease_name: BRACHYDACTYLY, TYPE B2
gene_symbol: MYH3
disease_id: OMIM:618469
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: TNNI2
disease_id: OMIM:601680
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B1
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
Phenotype: Cone-shaped epiphyses of phalanges 2 to 5 (HP:0006035)
Associated genes and diseases:
gene_symbol: EVC2
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
gene_symbol: EVC
disease_id: OMIM:225500
disease_name: ELLIS-VAN CREVELD SYNDROME
Phenotype: Bullet-shaped middle phalanges of the hand (HP:0009845)
Associated genes and diseases:
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
Phenotype: Sclerotic ilium (HP:6000869)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: OMIM:174800
disease_name: MCCUNE-ALBRIGHT SYNDROME
Phenotype: Toe hyperphalangy (HP:6000868)
Associated genes and diseases:
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
Phenotype: Metaphyseal chevron deformity (HP:6000870)
Associated genes and diseases:
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
Phenotype: Popcorn calcification (HP:6000871)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: P4HB
disease_id: OMIM:112240
disease_name: COLE-CARPENTER SYNDROME 1
Phenotype: Aplasia/Hypoplasia of the calvaria (HP:6000872)
Associated genes and diseases:
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
Phenotype: Bowdler spurs (HP:6000873)
Associated genes and diseases:
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: ALPL
disease_id: OMIM:241510
disease_name: HYPOPHOSPHATASIA, CHILDHOOD
Phenotype: Wide sacroiliac joint (HP:6000875)
Associated genes and diseases:
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
Phenotype: Symphalangism affecting the proximal phalanx of the 4th finger (HP:0009314)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Aplasia/Hypoplasia of the 3rd finger (HP:0009318)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: EN1
disease_id: OMIM:619218
disease_name: ENDOVE SYNDROME, LIMB-BRAIN TYPE
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Long second metacarpal (HP:0006040)
Associated genes and diseases:
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
Phenotype: Distal widening of metacarpals (HP:0006048)
Associated genes and diseases:
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
Phenotype: Enlarged humeral head (HP:6000884)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
Phenotype: Abnormality of the epiphyses of the 3rd finger (HP:0009320)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Enlarged epiphysis of the middle phalanx of the 3rd finger (HP:0009324)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Metacarpal periosteal thickening (HP:0006051)
Associated genes and diseases:
gene_symbol: KL
disease_id: OMIM:617994
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
Phenotype: Tapered distal phalanges of finger (HP:0009884)
Associated genes and diseases:
gene_symbol: CTSC
disease_id: OMIM:245010
disease_name: HAIM-MUNK SYNDROME
gene_symbol: DSP
disease_id: OMIM:609638
disease_name: EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
Phenotype: Ulnar deviated club hands (HP:0006055)
Associated genes and diseases:
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: COL9A1
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COL9A2
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
gene_symbol: COL9A3
disease_id: ORPHA:166002
disease_name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
Phenotype: Cone-shaped metacarpal epiphyses (HP:0006059)
Associated genes and diseases:
gene_symbol: PRKAR1A
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PDE4D
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: IHH
disease_id: ORPHA:63446
disease_name: Acrocapitofemoral dysplasia
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
Phenotype: Absent toe phalanx flexion crease (HP:6000891)
Associated genes and diseases:
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
Phenotype: Triangular epiphysis of the middle phalanx of the 3rd finger (HP:0009331)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Abnormality of the epiphysis of the proximal phalanx of the 3rd finger (HP:0009333)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Abnormality of the epiphysis of the middle phalanx of the 3rd finger (HP:0009334)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Tombstone-shaped proximal phalanges (HP:0006060)
Associated genes and diseases:
gene_symbol: FLNB
disease_id: OMIM:108721
disease_name: ATELOSTEOGENESIS, TYPE III
Phenotype: Triangular shaped distal phalanges of the hand (HP:0009875)
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
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
Phenotype: Limited interphalangeal movement (HP:0006064)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC SYNDROME
gene_symbol: GDAP1
disease_id: ORPHA:99948
disease_name: Charcot-Marie-Tooth disease type 4A
CMT4A
gene_symbol: FGF9
disease_id: OMIM:612961
disease_name: MULTIPLE SYNOSTOSES SYNDROME 3
Phenotype: Patchy sclerosis of finger phalanx (HP:0009772)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: OMIM:218400
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
Phenotype: Absent proximal finger flexion creases (HP:0006077)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: MET
disease_id: OMIM:620019
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 11
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
Phenotype: Triangular epiphysis of the proximal phalanx of the 3rd finger (HP:0009356)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C