TaoMedAI/RareMedData huggingface dataset:
Gene: EVC
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Emphysema (HP:0002097)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Acetabular spurs (HP:0010454)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Mild short stature (HP:0003502)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Mild short stature (HP:0003502)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Small hand (HP:0200055)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Short palm (HP:0004279)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Hypotelorism (HP:0000601)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Conical tooth (HP:0000698)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Conical tooth (HP:0000698)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Natal tooth (HP:0000695)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Microdontia (HP:0000691)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Hypodontia (HP:0000668)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Hypodontia (HP:0000668)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Hypodontia (HP:0000668)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Short long bone (HP:0003026)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Narrow chest (HP:0000774)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Narrow chest (HP:0000774)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Short ribs (HP:0000773)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Common atrium (HP:0011565)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Short thorax (HP:0010306)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Abnormal alveolar ridge morphology (HP:0006477)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Synostosis of carpal bones (HP:0005048)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Genu valgum (HP:0002857)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Genu valgum (HP:0002857)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Conical incisor (HP:0011065)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Micromelia (HP:0002983)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Strabismus (HP:0000486)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Small nail (HP:0001792)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Small nail (HP:0001792)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: MECOM
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: MECOM
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Cleft palate (HP:0000175)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 (OMIM:616738)
Gene: MECOM
Phenotype: Amegakaryocytic thrombocytopenia (HP:0004859)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: MECOM
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: MECOM
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MECOM
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MECOM
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)