TaoMedAI/RareMedData huggingface dataset:
Phenotype: Paronychia (HP:0001818)
Associated genes and diseases:
gene_symbol: STAT3
disease_id: ORPHA:2314
disease_name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
gene_symbol: LAMA3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMC2
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: LAMB3
disease_id: ORPHA:79404
disease_name: Severe generalized junctional epidermolysis bullosa
Epidermolysis bullosa letalis
JEB-H
Junctional epidermolysis bullosa generalisata gravis
Junctional epidermolysis bullosa, Herlitz type
Junctional epidermolysis bullosa, Herlitz-Pearson type
Severe generalized JEB
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: SLC39A4
disease_id: ORPHA:37
disease_name: Acrodermatitis enteropathica
AEZ
Acrodermatitis enteropathica, zinc deficiency type
Inherited zinc deficiency
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: ADAM17
disease_id: OMIM:614328
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
gene_symbol: WNK1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: RETREG1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: SCN9A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: KIF1A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: KRT16
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT17
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6A
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6B
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: CEBPE
disease_id: OMIM:260570
disease_name: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
Phenotype: Deep-set nails (HP:0001814)
Associated genes and diseases:
gene_symbol: HRAS
disease_id: ORPHA:3071
disease_name: Costello syndrome
FCS syndrome
Faciocutaneoskeletal syndrome
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
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: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
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
Phenotype: Elevated erythrocyte inosine triphosphate concentration (HP:6000510)
Associated genes and diseases:
gene_symbol: ITPA
disease_id: OMIM:613850
disease_name: INOSINE TRIPHOSPHATASE DEFICIENCY
Phenotype: Diminished neutrophil myeloperoxidase activity (HP:6000513)
Associated genes and diseases:
gene_symbol: MPO
disease_id: OMIM:254600
disease_name: MYELOPEROXIDASE DEFICIENCY
Phenotype: Reduced erythrocyte uroporphyrinogen III cosynthase activity (HP:6000514)
Associated genes and diseases:
gene_symbol: UROS
disease_id: OMIM:263700
disease_name: PORPHYRIA, CONGENITAL ERYTHROPOIETIC
Phenotype: Reduced erythrocyte inosine triphosphatase activity (HP:6000511)
Associated genes and diseases:
gene_symbol: ITPA
disease_id: OMIM:613850
disease_name: INOSINE TRIPHOSPHATASE DEFICIENCY
Phenotype: Elevated monolysocardiolipin/cardiolipin ratio (HP:6000517)
Associated genes and diseases:
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
Phenotype: Elevated circulating 21-deoxycortisol concentration (HP:6000516)
Associated genes and diseases:
gene_symbol: CYP21A2
disease_id: OMIM:201910
disease_name: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
Phenotype: Leukonychia (HP:0001820)
Associated genes and diseases:
gene_symbol: ABCA12
disease_id: OMIM:601277
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: KANK2
disease_id: OMIM:616099
disease_name: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR
gene_symbol: GJA1
disease_id: OMIM:617525
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
gene_symbol: GJA1
disease_id: OMIM:104100
disease_name: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
gene_symbol: KLK11
disease_id: OMIM:620507
disease_name: ICHTHYOSIS WITH ERYTHROKERATODERMA
gene_symbol: PLCD1
disease_id: OMIM:151600
disease_name: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3
gene_symbol: KIF11
disease_id: ORPHA:2526
disease_name: Microcephaly-lymphedema-chorioretinopathy syndrome
MLCRD
gene_symbol: DSC3
disease_id: OMIM:613102
disease_name: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: TRPS1
disease_id: ORPHA:77258
disease_name: Trichorhinophalangeal syndrome type 1
gene_symbol: GJB2
disease_id: OMIM:149200
disease_name: BART-PUMPHREY SYNDROME
gene_symbol: GJB2
disease_id: ORPHA:2698
disease_name: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Bart-Pumphrey syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome
Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
gene_symbol: ATP2A2
disease_id: ORPHA:79151
disease_name: Acrokeratosis verruciformis of Hopf
AKV of Hopf
gene_symbol: DSP
disease_id: OMIM:615821
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
gene_symbol: PEX1
disease_id: OMIM:234580
disease_name: HEIMLER SYNDROME 1
gene_symbol: PEX6
disease_id: OMIM:616617
disease_name: HEIMLER SYNDROME 2
Phenotype: Anomalous origin of one pulmonary artery from ascending aorta (HP:0011660)
Associated genes and diseases:
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: Right ventricular cardiomyopathy (HP:0011663)
Associated genes and diseases:
gene_symbol: TMEM43
disease_id: OMIM:604400
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: JUP
disease_id: OMIM:611528
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12
gene_symbol: DSG2
disease_id: OMIM:610193
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
gene_symbol: PKP2
disease_id: OMIM:609040
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
gene_symbol: DSC2
disease_id: OMIM:610476
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
gene_symbol: TGFB3
disease_id: OMIM:107970
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1
gene_symbol: DSP
disease_id: OMIM:607450
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
Phenotype: Takotsubo cardiomyopathy (HP:0011665)
Associated genes and diseases:
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: Bilateral superior vena cava with no bridging vein (HP:0011668)
Associated genes and diseases:
gene_symbol: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
Phenotype: Left superior vena cava draining directly to the left atrium (HP:0011669)
Associated genes and diseases:
gene_symbol: SMAD2
disease_id: OMIM:619657
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
gene_symbol: FADD
disease_id: OMIM:613759
disease_name: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
Phenotype: Reduced erythrocyte glutathione reductase activity (HP:6000525)
Associated genes and diseases:
gene_symbol: GSR
disease_id: OMIM:618660
disease_name: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
Phenotype: Failure to elevate lactate upon ischemic exercise test (HP:6000526)
Associated genes and diseases:
gene_symbol: PYGM
disease_id: OMIM:232600
disease_name: GLYCOGEN STORAGE DISEASE V
Phenotype: Elevated circulating dihydrouracil concentration (HP:0034593)
Associated genes and diseases:
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
Phenotype: Left superior vena cava draining to coronary sinus (HP:0011670)
Associated genes and diseases:
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: CIROP
disease_id: OMIM:619702
disease_name: HETEROTAXY, VISCERAL, 12, AUTOSOMAL
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
Phenotype: Interrupted inferior vena cava with azygous continuation (HP:0011671)
Associated genes and diseases:
gene_symbol: KDM3B
disease_id: OMIM:618846
disease_name: DIETS-JONGMANS SYNDROME
gene_symbol: ACVR2B
disease_id: OMIM:613751
disease_name: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
gene_symbol: MMP21
disease_id: OMIM:616749
disease_name: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
Phenotype: Cardiac myxoma (HP:0011672)
Associated genes and diseases:
gene_symbol: PRKAR1A
disease_id: OMIM:160980
disease_name: CARNEY COMPLEX, TYPE 1
gene_symbol: PRKAR1A
disease_id: ORPHA:615
disease_name: Familial atrial myxoma
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PRKAR1A
disease_id: OMIM:255960
disease_name: MYXOMA, INTRACARDIAC
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: MYH8
disease_id: OMIM:608837
disease_name: CARNEY COMPLEX VARIANT
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Phenotype: Tetralogy of Fallot with pulmonary stenosis (HP:0011679)
Associated genes and diseases:
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
Phenotype: Elevated urinary porphyrin level (HP:6000535)
Associated genes and diseases:
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
Phenotype: Elevated urinary coproporphyrin level (HP:6000536)
Associated genes and diseases:
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
Phenotype: Elevated urinary ureidopropionic acid level (HP:6000534)
Associated genes and diseases:
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
Phenotype: Single ventricle of indeterminate morphology (HP:0011680)
Associated genes and diseases:
gene_symbol: PLXND1
disease_id: OMIM:620294
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 9
Phenotype: Subarterial ventricular septal defect (HP:0011681)
Associated genes and diseases:
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated genes and diseases:
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: NDUFC2
disease_id: OMIM:619170
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: CALM3
disease_id: OMIM:618782
disease_name: LONG QT SYNDROME 16
gene_symbol: BMP2
disease_id: OMIM:617877
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
gene_symbol: RAD21
disease_id: OMIM:611376
disease_name: MUNGAN SYNDROME
gene_symbol: CHD3
disease_id: OMIM:618205
disease_name: SNIJDERS BLOK-CAMPEAU SYNDROME
gene_symbol: CLXN
disease_id: OMIM:620642
disease_name: CILIARY DYSKINESIA, PRIMARY, 53
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: GATA6
disease_id: OMIM:600001
disease_name: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: THOC6
disease_id: ORPHA:363444
disease_name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
BBIS
Beaulieu-Boycott-Innes syndrome
gene_symbol: SEC31A
disease_id: OMIM:618651
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: CITED2
disease_id: OMIM:614431
disease_name: VENTRICULAR SEPTAL DEFECT 2
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: ALG8
disease_id: OMIM:608104
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
gene_symbol: NDUFB7
disease_id: OMIM:620135
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39
Phenotype: Abnormal coronary artery course (HP:0011686)
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: TKT
disease_id: ORPHA:488618
disease_name: Transketolase deficiency
Short stature-developmental delay-congenital heart defect syndrome
TKT deficiency
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
Phenotype: AV nodal tachycardia (HP:0011687)
Associated genes and diseases:
gene_symbol: MT-CYB
disease_id: ORPHA:137675
disease_name: Histiocytoid cardiomyopathy
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
gene_symbol: NDUFB11
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: COX7B
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: HCCS
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
Phenotype: Supraventricular tachycardia with an accessory connection mediated pathway (HP:0011688)
Associated genes and diseases:
gene_symbol: SCN5A
disease_id: OMIM:601144
disease_name: BRUGADA SYNDROME 1
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
Phenotype: Elevated circulating N-carbamoyl-beta-alanine concentration (HP:0034595)
Associated genes and diseases:
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
Phenotype: Cerebellar hemorrhage (HP:0011695)
Associated genes and diseases:
gene_symbol: APP
disease_id: OMIM:605714
disease_name: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
gene_symbol: IVD
disease_id: OMIM:243500
disease_name: ISOVALERIC ACIDEMIA
gene_symbol: ACAD9
disease_id: ORPHA:99901
disease_name: Acyl-CoA dehydrogenase 9 deficiency
ACAD9 deficiency
gene_symbol: MMUT
disease_id: OMIM:251000
disease_name: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
Phenotype: Atrial reentry tachycardia (HP:0011699)
Associated genes and diseases:
gene_symbol: NODAL
disease_id: OMIM:270100
disease_name: HETEROTAXY, VISCERAL, 5, AUTOSOMAL
Phenotype: Osteolysis involving tarsal bones (HP:0006234)
Associated genes and diseases:
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: OMIM:277950
disease_name: WINCHESTER SYNDROME
gene_symbol: MAFB
disease_id: OMIM:166300
disease_name: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
Phenotype: Short distal phalanx of toe (HP:0001857)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:606835
disease_name: DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
gene_symbol: PIGF
disease_id: OMIM:619356
disease_name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
gene_symbol: NOG
disease_id: ORPHA:140908
disease_name: Brachydactyly type B2
gene_symbol: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
gene_symbol: KCNH1
disease_id: OMIM:135500
disease_name: ZIMMERMANN-LABAND SYNDROME 1
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Phenotype: Podagra (HP:0001854)
Associated genes and diseases:
gene_symbol: HPRT1
disease_id: OMIM:300322
disease_name: LESCH-NYHAN SYNDROME
gene_symbol: HPRT1
disease_id: OMIM:300323
disease_name: HYPERURICEMIA, HPRT-RELATED
Phenotype: Reduced erythrocyte bisphosphoglycerate mutase activity (HP:6000557)
Associated genes and diseases:
gene_symbol: BPGM
disease_id: OMIM:222800
disease_name: ERYTHROCYTOSIS, FAMILIAL, 8
Phenotype: Reduced erythrocyte adenylate kinase activity (HP:6000558)
Associated genes and diseases:
gene_symbol: AK1
disease_id: OMIM:612631
disease_name: ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Phenotype: Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity (HP:6000555)
Associated genes and diseases:
gene_symbol: ALDOA
disease_id: OMIM:611881
disease_name: GLYCOGEN STORAGE DISEASE XII
Phenotype: Reduced circulating dopamine beta-hydroxylase activity (HP:6000556)
Associated genes and diseases:
gene_symbol: DBH
disease_id: OMIM:223360
disease_name: ORTHOSTATIC HYPOTENSION 1
Phenotype: Reduced erythrocyte hexokinase activity (HP:6000559)
Associated genes and diseases:
gene_symbol: HK1
disease_id: OMIM:235700
disease_name: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
Phenotype: Clinodactyly of the 5th toe (HP:0001864)
Associated genes and diseases:
gene_symbol: ALG3
disease_id: OMIM:601110
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: PIGH
disease_id: OMIM:618010
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
gene_symbol: RAB3GAP2
disease_id: OMIM:614225
disease_name: WARBURG MICRO SYNDROME 2
gene_symbol: RNF6
disease_id: ORPHA:99977
disease_name: Squamous cell carcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
gene_symbol: TGFBR2
disease_id: ORPHA:99977
disease_name: Squamous cell carcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
gene_symbol: WWOX
disease_id: ORPHA:99977
disease_name: Squamous cell carcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
gene_symbol: DLEC1
disease_id: ORPHA:99977
disease_name: Squamous cell carcinoma of the esophagus
ESCC
Esophageal epidermoid carcinoma
Esophageal squamous cell carcinoma
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: CKAP2L
disease_id: ORPHA:3255
disease_name: Filippi syndrome
Type 1 syndactyly-microcephaly-intellectual disability syndrome
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: ERBB2
disease_id: ORPHA:99976
disease_name: Adenocarcinoma of the esophagus
Esophageal adenocarcinoma
Phenotype: Autoamputation of foot (HP:0001868)
Associated genes and diseases:
gene_symbol: RAB7A
disease_id: OMIM:600882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
gene_symbol: SPTLC1
disease_id: OMIM:162400
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA