TaoMedAI/RareMedData huggingface dataset:
Gene: LONP1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Metaphyseal chevron deformity (HP:6000870)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Basal ganglia necrosis (HP:0012128)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Anal atresia (HP:0002023)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: LONP1
Phenotype: Low APGAR score (HP:0030917)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: LONP1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Gliosis (HP:0002171)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Absent tibia (HP:0009556)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Absent epiphyses (HP:0010577)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Intracranial cystic lesion (HP:0010576)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Drowsiness (HP:0002329)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Congenital lactic acidosis (HP:0004902)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Blindness (HP:0000618)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Cerebellar gliosis (HP:0012698)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Short stature (HP:0004322)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: LONP1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Basal ganglia gliosis (HP:0006999)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: LONP1
Phenotype: Abnormal circulating amino acid concentration (HP:0003112)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Short nose (HP:0003196)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Short humerus (HP:0005792)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Prominent sternum (HP:0000884)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: LONP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Aplasia/Hypoplasia of the diaphragm (HP:0010315)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: LONP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Pes valgus (HP:0008081)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Omphalocele (HP:0001539)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Flat face (HP:0012368)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Flat face (HP:0012368)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Extrahepatic biliary duct atresia (HP:0005242)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Abnormality of the larynx (HP:0001600)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)
Gene: LONP1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LONP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LONP1
Phenotype: EEG with focal sharp waves (HP:0011196)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: Pyruvate dehydrogenase complex E1 component subunit alpha deficiency; Pyruvate dehydrogenase E1-alpha deficiency; Pyruvate decarboxylase deficiency; PDHAD (ORPHA:79243)
Gene: LONP1
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CODAS SYNDROME (OMIM:600373)
Gene: LONP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cerebrooculodentoauriculoskeletal syndrome; CODAS syndrome (ORPHA:1458)