TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal glucose-6-phosphate dehydrogenase level in blood (HP:0410177)
Associated genes and diseases:
gene_symbol: CASK
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: G6PD
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
Phenotype: Decreased glucose-6-phosphate dehydrogenase level in blood (HP:0410179)
Associated genes and diseases:
gene_symbol: CASK
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: G6PD
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
Phenotype: Alternating exotropia (HP:0031717)
Associated genes and diseases:
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
Phenotype: Sensory exotropia (HP:0031721)
Associated genes and diseases:
gene_symbol: KIF21A
disease_id: OMIM:135700
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
Phenotype: Secondary esotropia (HP:0031723)
Associated genes and diseases:
gene_symbol: KIF21A
disease_id: OMIM:135700
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
Phenotype: Mild hypermetropia (HP:0031728)
Associated genes and diseases:
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
Phenotype: Moderate hypermetropia (HP:0031729)
Associated genes and diseases:
gene_symbol: SYNE1
disease_id: ORPHA:319332
disease_name: Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive myogenic AMC
SYNE1-related AMC
SYNE1-related arthrogryposis multiplex congenita
gene_symbol: BLOC1S3
disease_id: OMIM:614077
disease_name: HERMANSKY-PUDLAK SYNDROME 8
Phenotype: Abnormal oblique muscle physiology (HP:0031739)
Associated genes and diseases:
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
Phenotype: Convergence excess esotropia (HP:0031766)
Associated genes and diseases:
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
Phenotype: Abnormal posterior circulating artery morphology (HP:0031772)
Associated genes and diseases:
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
Phenotype: Abnormal eyelid movement (HP:0031785)
Associated genes and diseases:
gene_symbol: CLCN1
disease_id: OMIM:160800
disease_name: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
gene_symbol: CLCN1
disease_id: OMIM:255700
disease_name: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
Phenotype: Mixed astigmatism (HP:0031790)
Associated genes and diseases:
gene_symbol: AGBL5
disease_id: OMIM:617023
disease_name: RETINITIS PIGMENTOSA 75
Phenotype: Irregular astigmatism (HP:0031792)
Associated genes and diseases:
gene_symbol: SLC4A11
disease_id: ORPHA:293603
disease_name: Congenital hereditary endothelial dystrophy type II
Autosomal recessive CHED
Autosomal recessive congenital hereditary endothelial dystrophy
CHED2
CHEDII
Congenital hereditary endothelial dystrophy type 2
Infantile hereditary endothelial dystrophy
Maumenee corneal dystrophy
gene_symbol: COL17A1
disease_id: ORPHA:293381
disease_name: Epithelial recurrent erosion dystrophy
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
Phenotype: Increased serum leptin (HP:0031793)
Associated genes and diseases:
gene_symbol: ADCY3
disease_id: OMIM:617885
disease_name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
gene_symbol: MECP2
disease_id: ORPHA:778
disease_name: Rett syndrome
Phenotype: Abnormal circulating glycerol level (HP:0031795)
Associated genes and diseases:
gene_symbol: GK
disease_id: OMIM:307030
disease_name: GLYCEROL KINASE DEFICIENCY
Phenotype: Recurrent (HP:0031796)
Associated genes and diseases:
gene_symbol: PTH
disease_id: OMIM:146200
disease_name: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1
gene_symbol: BCKDHA
disease_id: OMIM:248600
disease_name: MAPLE SYRUP URINE DISEASE
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: ADORA2A
disease_id: ORPHA:363549
disease_name: Acute encephalopathy with biphasic seizures and late reduced diffusion
AESD
AIEF
Acute infantile encephalopathy predominantly affecting the frontal lobes
Phenotype: Elevated circulating apolipoprotein B concentration (HP:0031798)
Associated genes and diseases:
gene_symbol: LPL
disease_id: OMIM:144250
disease_name: HYPERLIPIDEMIA, FAMILIAL COMBINED, 3
Phenotype: Decreased circulating apolipoprotein A-I concentration (HP:0031799)
Associated genes and diseases:
gene_symbol: APOA1
disease_id: OMIM:619836
disease_name: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: ABCA1
disease_id: OMIM:205400
disease_name: TANGIER DISEASE
Phenotype: Widened distal phalanges (HP:0006200)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: VCAN
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: GZF1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: KCNJ13
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LRP2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: BMP4
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: SLITRK6
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: P3H2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LOXL3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: FLNB
disease_id: OMIM:108721
disease_name: ATELOSTEOGENESIS, TYPE III
Phenotype: Hypermobility of distal interphalangeal joints (HP:0006201)
Associated genes and diseases:
gene_symbol: CBS
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: MFAP5
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: IPO8
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: THSD4
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: AEBP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FKBP14
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: COL3A1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SKI
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PLOD1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: PMEPA1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EFEMP2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LTBP3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ASPH
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: FBN2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: EMILIN1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: LOX
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SLC2A10
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFB3
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: TGFBR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: BGN
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: NPR2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: ABL1
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: SMAD2
disease_id: OMIM:130050
disease_name: EHLERS-DANLOS SYNDROME, VASCULAR TYPE
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: ECEL1
disease_id: OMIM:615065
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5D
Phenotype: Decreased movement range in interphalangeal joints (HP:0006203)
Associated genes and diseases:
gene_symbol: GNPTAB
disease_id: ORPHA:576
disease_name: Mucolipidosis type II
I-cell disease
Mucolipidosis type II alpha/beta
N-acetylglucosamine 1-phosphotransferase deficiency
gene_symbol: HNRNPDL
disease_id: OMIM:609115
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
gene_symbol: KRT1
disease_id: ORPHA:530838
disease_name: KRT1-related diffuse nonepidermolytic keratoderma
KRT1-related diffuse NEPPK
Phenotype: Hypersegmentation of proximal phalanx of second finger (HP:0006206)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Partial fusion of carpals (HP:0006207)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
Phenotype: Metaphyseal cupping of proximal phalanges (HP:0006208)
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: OMIM:300863
disease_name: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
Phenotype: Thin proximal phalanges with broad epiphyses of the hand (HP:0006213)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
Phenotype: Single interphalangeal crease of fifth finger (HP:0006216)
Associated genes and diseases:
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: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
Phenotype: Limited mobility of proximal interphalangeal joint (HP:0006217)
Associated genes and diseases:
gene_symbol: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)
Associated genes and diseases:
gene_symbol: BMPR1B
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMPR1B
disease_id: OMIM:616849
disease_name: BRACHYDACTYLY, TYPE A1, D
gene_symbol: BMPR1B
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: GDF5
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: BHLHA9
disease_id: OMIM:609432
disease_name: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
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: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: RUNX2
disease_id: OMIM:156510
disease_name: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
gene_symbol: HOXD13
disease_id: ORPHA:93409
disease_name: Brachydactyly-syndactyly, Zhao type
gene_symbol: INTU
disease_id: OMIM:617926
disease_name: OROFACIODIGITAL SYNDROME XVII
Phenotype: Tapering pointed ends of distal finger phalanges (HP:0006224)
Associated genes and diseases:
gene_symbol: CTSC
disease_id: OMIM:245010
disease_name: HAIM-MUNK SYNDROME
Phenotype: Osteoarthritis of the first carpometacarpal joint (HP:0006226)
Associated genes and diseases:
gene_symbol: ASPN
disease_id: OMIM:607850
disease_name: OSTEOARTHRITIS SUSCEPTIBILITY 3
Phenotype: Valgus hand deformity (HP:0006228)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:200700
disease_name: CHONDRODYSPLASIA, GREBE TYPE
Phenotype: Expanded metacarpals with widened medullary cavities (HP:0006232)
Associated genes and diseases:
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
Phenotype: Osteoarthritis of the distal interphalangeal joint (HP:0006233)
Associated genes and diseases:
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: ASPN
disease_id: OMIM:607850
disease_name: OSTEOARTHRITIS SUSCEPTIBILITY 3
Phenotype: Slender metacarpals (HP:0006236)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: KIF22
disease_id: ORPHA:93360
disease_name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
SEMD-MD
SEMDJL2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: SCARF2
disease_id: ORPHA:2460
disease_name: Van den Ende-Gupta syndrome
Marden-Walker-like syndrome
VDEGS
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
Phenotype: Prominent interphalangeal joints (HP:0006237)
Associated genes and diseases:
gene_symbol: COL11A2
disease_id: OMIM:215150
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
Phenotype: Shortening of all middle phalanges of the toes (HP:0006239)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: ORPHA:85169
disease_name: Familial digital arthropathy-brachydactyly
Phenotype: Enlarged epiphysis of the middle phalanx of the 2nd finger (HP:0009516)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Phalangeal dislocation (HP:0006243)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: B4GALT7
disease_id: OMIM:130070
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
gene_symbol: AEBP1
disease_id: ORPHA:536532
disease_name: Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
Phenotype: Enlarged interphalangeal joints (HP:0006247)
Associated genes and diseases:
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: HOXD13
disease_id: OMIM:186300
disease_name: SYNDACTYLY, TYPE V
gene_symbol: CCN6
disease_id: ORPHA:1159
disease_name: Progressive pseudorheumatoid dysplasia
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
gene_symbol: CCN6
disease_id: OMIM:208230
disease_name: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: MATN3
disease_id: OMIM:140600
disease_name: OSTEOARTHRITIS SUSCEPTIBILITY 2
gene_symbol: COL2A1
disease_id: OMIM:604864
disease_name: OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
Phenotype: Limited wrist movement (HP:0006248)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC SYNDROME
gene_symbol: GNPTAB
disease_id: ORPHA:576
disease_name: Mucolipidosis type II
I-cell disease
Mucolipidosis type II alpha/beta
N-acetylglucosamine 1-phosphotransferase deficiency
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: SHOX
disease_id: ORPHA:240
disease_name: Léri-Weill dyschondrosteosis
Léri-Weill syndrome
gene_symbol: SHOX
disease_id: OMIM:127300
disease_name: LERI-WEILL DYSCHONDROSTEOSIS
gene_symbol: GDAP1
disease_id: ORPHA:99948
disease_name: Charcot-Marie-Tooth disease type 4A
CMT4A
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: FLNA
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: MAP3K7
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: LTBP3
disease_id: OMIM:617809
disease_name: GELEOPHYSIC DYSPLASIA 3
gene_symbol: COLQ
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: LAMB2
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: GNE
disease_id: ORPHA:602
disease_name: GNE myopathy
DMRV
Distal myopathy with rimmed vacuoles
Distal myopathy, Nonaka type
HIBM2
Hereditary inclusion body myopathy type 2
IBM2
Inclusion body myopathy type 2
Nonaka myopathy
Quadriceps-sparing myopathy
Phenotype: Triangular epiphysis of the middle phalanx of the 2nd finger (HP:0009523)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Limited wrist extension (HP:0006251)
Associated genes and diseases:
gene_symbol: COLQ
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: LAMB2
disease_id: ORPHA:98915
disease_name: Synaptic congenital myasthenic syndromes
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: GNE
disease_id: ORPHA:602
disease_name: GNE myopathy
DMRV
Distal myopathy with rimmed vacuoles
Distal myopathy, Nonaka type
HIBM2
Hereditary inclusion body myopathy type 2
IBM2
Inclusion body myopathy type 2
Nonaka myopathy
Quadriceps-sparing myopathy