TaoMedAI/RareMedData huggingface dataset:
Gene: ORC6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Dyspnea (HP:0002094)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Dyspnea (HP:0002094)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Severe short stature (HP:0003510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Short stature (HP:0004322)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Narrow chest (HP:0000774)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Short ribs (HP:0000773)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Slender long bone (HP:0003100)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Slender long bone (HP:0003100)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Short thorax (HP:0010306)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Retrognathia (HP:0000278)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Coxa vara (HP:0002812)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Growth delay (HP:0001510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Low-set ears (HP:0000369)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Triangular face (HP:0000325)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Genu varum (HP:0002970)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Absent sternal ossification (HP:0006628)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Gene: ORC6
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: ORC6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ORC6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ORC6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMACR
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Hemiparesis (HP:0001269)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Seizure (HP:0001250)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Ataxia (HP:0001251)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Dysarthria (HP:0001260)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Spasticity (HP:0001257)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Hematochezia (HP:0002573)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Hematochezia (HP:0002573)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Hepatic failure (HP:0001399)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Decreased circulating calcifediol concentration (HP:0012053)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Tremor (HP:0001337)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Tremor (HP:0001337)
Associated disease: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY (OMIM:614307)
Gene: AMACR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)
Gene: AMACR
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Congenital bile acid synthesis defect type 4; BASD4; 2-methylacyl-CoA racemase deficiency; Alpha-methyl-acyl-CoA racemase deficiency; Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; AMACR deficiency (ORPHA:79095)
Gene: AMACR
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMACR
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 (OMIM:214950)