TaoMedAI/RareMedData huggingface dataset:
Gene: ETFB
Phenotype: Nausea (HP:0002018)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Vomiting (HP:0002013)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Gliosis (HP:0002171)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Elevated circulating glutaric acid concentration (HP:0003530)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Electron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Acidosis (HP:0001941)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Glycosuria (HP:0003076)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Jaundice (HP:0000952)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: High forehead (HP:0000348)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Elevated urinary 5-hydroxyhexanoic acid level (HP:0025734)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFB
Phenotype: Telecanthus (HP:0000506)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Neonatal death (HP:0003811)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Pachygyria (HP:0001302)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Hepatic periportal necrosis (HP:0002614)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Nausea (HP:0002018)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Vomiting (HP:0002013)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Gliosis (HP:0002171)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Elevated circulating glutaric acid concentration (HP:0003530)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Electron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Acidosis (HP:0001941)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Glycosuria (HP:0003076)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Jaundice (HP:0000952)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: High forehead (HP:0000348)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Elevated urinary 5-hydroxyhexanoic acid level (HP:0025734)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETFDH
Phenotype: Telecanthus (HP:0000506)
Associated disease: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231680)
Gene: ETS1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETS1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: ETV6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: ETV6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: ETV6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: ETV6
Phenotype: B Acute Lymphoblastic Leukemia (HP:0004812)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: ETV6
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: ETV6
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: ETV6
Phenotype: Anemia (HP:0001903)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: ETV6
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: ETV6
Phenotype: Petechiae (HP:0000967)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: ETV6
Phenotype: Epistaxis (HP:0000421)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: ETV6
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: ETV6
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: THROMBOCYTOPENIA 5 (OMIM:616216)
Gene: EVC
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Cone-shaped epiphyses of phalanges 2 to 5 (HP:0006035)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Hydroureter (HP:0000072)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Epispadias (HP:0000039)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Epispadias (HP:0000039)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Hypospadias (HP:0000047)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Hypospadias (HP:0000047)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)