TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal finger flexion crease (HP:0006143)
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: CHST11
disease_id: OMIM:618167
disease_name: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS
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: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: WNT7A
disease_id: OMIM:228930
disease_name: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
gene_symbol: GDF5
disease_id: OMIM:615298
disease_name: SYMPHALANGISM, PROXIMAL, 1B
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: Broad metacarpal epiphyses (HP:0006146)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
Phenotype: Progressive fusion 2nd-5th pip joints (HP:0006147)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186570
disease_name: TARSAL-CARPAL COALITION SYNDROME
Phenotype: Increased laxity of fingers (HP:0006149)
Associated genes and diseases:
gene_symbol: COMP
disease_id: ORPHA:750
disease_name: Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
gene_symbol: COL6A1
disease_id: OMIM:254090
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
gene_symbol: COL6A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL12A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A2
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A3
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
Phenotype: Reduced hepatic glycogen phosphorylase activity (HP:6000979)
Associated genes and diseases:
gene_symbol: PYGL
disease_id: OMIM:232700
disease_name: GLYCOGEN STORAGE DISEASE VI
Phenotype: Triangular epiphyses of the 3rd finger (HP:0009420)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger (HP:0009421)
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
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated genes and diseases:
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
gene_symbol: IL10
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: SLC22A4
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: PTPN22
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: CIITA
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: CD244
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: NFKBIL1
disease_id: OMIM:180300
disease_name: RHEUMATOID ARTHRITIS
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Phenotype: Long phalanx of finger (HP:0006155)
Associated genes and diseases:
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
gene_symbol: FLNA
disease_id: OMIM:305620
disease_name: FRONTOMETAPHYSEAL DYSPLASIA 1
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
Phenotype: Ulnar deviation of thumb (HP:0006156)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
Phenotype: Aplasia of the distal phalanx of the 3rd finger (HP:0009429)
Associated genes and diseases:
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Phenotype: Cochlear nerve aplasia (HP:6000988)
Associated genes and diseases:
gene_symbol: GREB1L
disease_id: OMIM:619274
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 80
Phenotype: Slit-like lateral ventricle (HP:6000989)
Associated genes and diseases:
gene_symbol: SLC4A10
disease_id: OMIM:620746
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
Phenotype: Elevated circulating 4-hydroxybutyric acid concentration (HP:6000991)
Associated genes and diseases:
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Phenotype: Pupillary hypersensitivity to parasympathomimetic agents (HP:6000993)
Associated genes and diseases:
gene_symbol: ELP1
disease_id: OMIM:223900
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
Phenotype: Lack of pupillary response to hydroxyamphetamine (HP:6000994)
Associated genes and diseases:
gene_symbol: DBH
disease_id: OMIM:223360
disease_name: ORTHOSTATIC HYPOTENSION 1
Phenotype: Subcortical U fiber lesion (HP:6000995)
Associated genes and diseases:
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
Phenotype: Triangular shaped middle phalanx of the 3rd finger (HP:0009436)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger (HP:0009437)
Associated genes and diseases:
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: GDF5
disease_id: OMIM:615072
disease_name: BRACHYDACTYLY, TYPE A1, C
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Irregular metacarpals (HP:0006160)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
Phenotype: Short metacarpals with rounded proximal ends (HP:0006161)
Associated genes and diseases:
gene_symbol: ADAMTSL2
disease_id: OMIM:231050
disease_name: GELEOPHYSIC DYSPLASIA 1
Phenotype: Soft tissue swelling of interphalangeal joints (HP:0006162)
Associated genes and diseases:
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
Phenotype: Enlarged metacarpophalangeal joints (HP:0006163)
Associated genes and diseases:
gene_symbol: CCN6
disease_id: OMIM:208230
disease_name: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
Phenotype: Proportionate shortening of all digits (HP:0006165)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
Phenotype: Broad proximal phalanges of the hand (HP:0009852)
Associated genes and diseases:
gene_symbol: COL10A1
disease_id: ORPHA:174
disease_name: Metaphyseal chondrodysplasia, Schmid type
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
Phenotype: Triangular shaped phalanges of the 3rd finger (HP:0009446)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Flattened, squared-off epiphyses of tubular bones (HP:0006172)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
Phenotype: Metacarpal diaphyseal endosteal sclerosis (HP:0006174)
Associated genes and diseases:
gene_symbol: LRP5
disease_id: OMIM:144750
disease_name: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
Phenotype: Two carpal ossification centers present at birth (HP:0006176)
Associated genes and diseases:
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
Phenotype: Triangular shaped proximal phalanx of the 3rd finger (HP:0009456)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Crowded carpal bones (HP:0006180)
Associated genes and diseases:
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
Phenotype: Enlarged proximal interphalangeal joints (HP:0006185)
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
Phenotype: Aplasia of the 3rd finger (HP:0009460)
Associated genes and diseases:
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
Phenotype: Radial deviation of the 3rd finger (HP:0009462)
Associated genes and diseases:
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
Phenotype: Radially deviated wrists (HP:0006190)
Associated genes and diseases:
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: Thimble-shaped middle phalanges of hand (HP:0006193)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
Phenotype: Proximal/middle symphalangism of 4th finger (HP:0009477)
Associated genes and diseases:
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
Phenotype: Enlarged epiphyses of the 2nd finger (HP:0009491)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Triangular epiphyses of the 2nd finger (HP:0009498)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Increased level of L-pyroglutamic acid in urine (HP:0410132)
Associated genes and diseases:
gene_symbol: OPLAH
disease_id: OMIM:260005
disease_name: 5-OXOPROLINASE DEFICIENCY
gene_symbol: GSS
disease_id: OMIM:266130
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY
gene_symbol: GSS
disease_id: OMIM:231900
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
Phenotype: Physical urticaria (HP:0410134)
Associated genes and diseases:
gene_symbol: SUPT16H
disease_id: OMIM:619480
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM
gene_symbol: SLC27A4
disease_id: OMIM:608649
disease_name: ICHTHYOSIS PREMATURITY SYNDROME
gene_symbol: PLCG2
disease_id: OMIM:614468
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
gene_symbol: IL12RB1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNPO3
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IL12A
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: SPIB
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: POU2AF1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNFSF15
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: MMEL1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IRF5
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: SERPING1
disease_id: ORPHA:100050
disease_name: Hereditary angioedema type 1
HAE 1
HAE-I
Hereditary angioneurotic edema type 1
gene_symbol: KIT
disease_id: ORPHA:79455
disease_name: Cutaneous mastocytoma
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
gene_symbol: ADGRE2
disease_id: OMIM:125630
disease_name: VIBRATORY URTICARIA
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
Phenotype: Cold urticaria (HP:0410135)
Associated genes and diseases:
gene_symbol: PLCG2
disease_id: OMIM:614468
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
Phenotype: Abnormal circulating biotinidase concentration (HP:0410144)
Associated genes and diseases:
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
Phenotype: Decreased circulating biotinidase concentration (HP:0410145)
Associated genes and diseases:
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
Phenotype: Eosinophilic infiltration in the stomach mucosa (HP:0410147)
Associated genes and diseases:
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated genes and diseases:
gene_symbol: TGFBR1
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: IPO8
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFB2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: TGFB3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: SMAD2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: STAT6
disease_id: OMIM:620532
disease_name: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
Phenotype: Increased level of methylsuccinic acid in urine (HP:0410153)
Associated genes and diseases:
gene_symbol: ACADS
disease_id: ORPHA:26792
disease_name: Short chain acyl-CoA dehydrogenase deficiency
ACADS deficiency
SCAD deficiency
SCADD
Phenotype: Increased level of N-acetylneuraminic acid in urine (HP:0410156)
Associated genes and diseases:
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
Phenotype: Phosphoethanolaminuria (HP:0003239)
Associated genes and diseases:
gene_symbol: ALPL
disease_id: OMIM:146300
disease_name: HYPOPHOSPHATASIA, ADULT
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: ALPL
disease_id: OMIM:241510
disease_name: HYPOPHOSPHATASIA, CHILDHOOD
Phenotype: Constant exotropia (HP:0031713)
Associated genes and diseases:
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Phenotype: Hippocampal atrophy (HP:0410170)
Associated genes and diseases:
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: RNU4ATAC
disease_id: ORPHA:353298
disease_name: Roifman syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
gene_symbol: GRM7
disease_id: OMIM:618922
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: KDM5A
disease_id: OMIM:620820
disease_name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: CPA6
disease_id: OMIM:614418
disease_name: FEBRILE SEIZURES, FAMILIAL, 11
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: NEK1
disease_id: OMIM:617892
disease_name: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
gene_symbol: SLITRK2
disease_id: OMIM:301107
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 111
gene_symbol: ABCA7
disease_id: OMIM:608907
disease_name: ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO
Phenotype: Increased circulating troponin I concentration (HP:0410173)
Associated genes and diseases:
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: DSG2
disease_id: OMIM:610193
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
Phenotype: Increased circulating troponin T concentration (HP:0410174)
Associated genes and diseases:
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: TTR
disease_id: ORPHA:85451
disease_name: ATTRV122I amyloidosis
ATTRV122I-related amyloidosis
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
Phenotype: Hyperketonemia (HP:0410175)
Associated genes and diseases:
gene_symbol: COX6B1
disease_id: OMIM:619051
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: SLC37A4
disease_id: OMIM:232240
disease_name: GLYCOGEN STORAGE DISEASE Ic
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
gene_symbol: PHKA2
disease_id: ORPHA:264580
disease_name: Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
gene_symbol: PHKG2
disease_id: ORPHA:264580
disease_name: Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
gene_symbol: OXCT1
disease_id: ORPHA:832
disease_name: Succinyl-CoA:3-oxoacid CoA transferase deficiency
OXCT1 deficiency
SCOT deficiency
Succinyl-CoA acetoacetate transferase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Phenotype: Abnormal circulating glucose-6-phosphate dehydrogenase concentration (HP:0410176)
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