TaoMedAI/RareMedData huggingface dataset:
Gene: BPNT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Hitchhiker thumb (HP:0001234)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Capitate-hamate fusion (HP:0001241)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Cleft palate (HP:0000175)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Recurrent patellar dislocation (HP:0005001)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Short stature (HP:0004322)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Irregular epiphyses of the metacarpals (HP:0009190)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Short long bone (HP:0003026)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Short nose (HP:0003196)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Flat face (HP:0012368)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: High forehead (HP:0000348)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Short foot (HP:0001773)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BPNT2
Phenotype: Proptosis (HP:0000520)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Short toe (HP:0001831)
Associated disease: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
Gene: BPNT2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BPNT2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRMT10C
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Decreased liver function (HP:0001410)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Poor suck (HP:0002033)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Absent otoacoustic emissions (HP:6000182)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Frontal polymicrogyria (HP:0006821)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: TRMT10C
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Gene: ADPRS
Phenotype: Poor speech (HP:0002465)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Intention tremor (HP:0002080)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Axonal loss (HP:0003447)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Diplopia (HP:0000651)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: ADPRS
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Gene: SARS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Proteinuria (HP:0000093)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Polyuria (HP:0000103)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Hypochloremic metabolic alkalosis (HP:0005977)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)
Gene: SARS2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME (OMIM:613845)