TaoMedAI/RareMedData huggingface dataset:
Gene: ORC4
Phenotype: Dyspnea (HP:0002094)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Severe short stature (HP:0003510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Short stature (HP:0004322)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Slender long bone (HP:0003100)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Slender long bone (HP:0003100)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Retrognathia (HP:0000278)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Growth delay (HP:0001510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Low-set ears (HP:0000369)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Micrognathia (HP:0000347)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Gene: ORC4
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC67A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 1 (OMIM:268210)
Gene: SLC67A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: SLC67A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: SLC67A1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: SLC67A1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: SLC67A1
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: SLC67A1
Phenotype: Lung adenocarcinoma (HP:0030078)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: SLC67A1
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: SLC67A1
Phenotype: Embryonal rhabdomyosarcoma (HP:0006743)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 1 (OMIM:268210)
Gene: SLC67A1
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated disease: LUNG CANCER (OMIM:211980)
Gene: OTC
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Stroke (HP:0001297)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Lethargy (HP:0001254)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Lethargy (HP:0001254)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Seizure (HP:0001250)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Seizure (HP:0001250)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Hypotonia (HP:0001252)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Ataxia (HP:0001251)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Coma (HP:0001259)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Coma (HP:0001259)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Delirium (HP:0031258)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Poor suck (HP:0002033)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Vomiting (HP:0002013)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Hypothermia (HP:0002045)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Protein avoidance (HP:0002038)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Protein avoidance (HP:0002038)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Anorexia (HP:0002039)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Elevated circulating uracil concentration (HP:0033139)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Cerebral edema (HP:0002181)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Infantile onset (HP:0003593)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Adult onset (HP:0003581)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Reduced hepatic ornithine transcarbamylase activity (HP:6000334)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Drowsiness (HP:0002329)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Episodic ammonia intoxication (HP:0001951)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Respiratory alkalosis (HP:0001950)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Respiratory alkalosis (HP:0001950)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Irritability (HP:0000737)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Anxiety (HP:0000739)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Depression (HP:0000716)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Childhood onset (HP:0011463)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:311250)
Gene: OTC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)
Gene: OTC
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Ornithine carbamoyltransferase deficiency; OTC deficiency; OCT deficiency; Ornithine transcarbamylase deficiency (ORPHA:664)