TaoMedAI/RareMedData huggingface dataset:
Gene: GLYCTK
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Autistic behavior (HP:0000729)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Increased circulating free fatty acid level (HP:0030781)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Microcephaly (HP:0000252)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Microcephaly (HP:0000252)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Growth delay (HP:0001510)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Bradycardia (HP:0001662)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Deeply set eye (HP:0000490)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Brain atrophy (HP:0012444)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: SCLT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Syndactyly (HP:0001159)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Seizure (HP:0001250)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Ataxia (HP:0001251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Spasticity (HP:0001257)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Celiac disease (HP:0002608)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Childhood-onset truncal obesity (HP:0008915)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Asthma (HP:0002099)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Blindness (HP:0000618)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Photophobia (HP:0000613)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Microdontia (HP:0000691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Short stature (HP:0004322)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Anxiety (HP:0000739)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Short attention span (HP:0000736)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Depression (HP:0000716)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Autism (HP:0000717)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Emotional lability (HP:0000712)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Infertility (HP:0000789)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Fifth finger distal phalanx clinodactyly (HP:0005769)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Insulin resistance (HP:0000855)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hypertension (HP:0000822)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: High palate (HP:0000218)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hydrometrocolpos (HP:0030010)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Obesity (HP:0001513)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Impaired fasting glucose (HP:0025691)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Rhinitis (HP:0012384)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Aplasia/Hypoplasia of the vagina (HP:0011026)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Otitis media (HP:0000388)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Macrotia (HP:0000400)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Astigmatism (HP:0000483)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Strabismus (HP:0000486)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Short neck (HP:0000470)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Cataract (HP:0000518)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Color vision defect (HP:0000551)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: SCLT1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: BBS; Bardet-Biedl syndrome (ORPHA:110)
Gene: EVC2
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Cone-shaped epiphyses of phalanges 2 to 5 (HP:0006035)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Hydroureter (HP:0000072)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Epispadias (HP:0000039)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Epispadias (HP:0000039)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Hypospadias (HP:0000047)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Neonatal short-limb short stature (HP:0008921)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
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: EVC2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
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: EVC2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
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: EVC2
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: EVC2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Tessier cleft (HP:0002006)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Emphysema (HP:0002097)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EVC2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EVC2
Phenotype: Acetabular spurs (HP:0010454)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: WEYERS ACROFACIAL DYSOSTOSIS (OMIM:193530)
Gene: EVC2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: ELLIS-VAN CREVELD SYNDROME (OMIM:225500)
Gene: EVC2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Chondroectodermal dysplasia; Mesodermic dysplasia; Ellis Van Creveld syndrome (ORPHA:289)
Gene: EVC2
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)
Gene: EVC2
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Weyers acrofacial dysostosis; Weyers acrodental dysostosis; Acrofacial dysostosis, Weyers type; Curry-Hall syndrome (ORPHA:952)