{"disease":{"id":"OMIM:614922","name":"Combined oxidative phosphorylation deficiency 11","mondoId":"MONDO:0013969","description":"Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene."},"categories":{"Prenatal and Birth":[{"id":"HP:0001561","name":"Polyhydramnios","metadata":{"sex":"","onset":"","frequency":"2/5","sources":["PMID:23022099"]},"category":"Prenatal and Birth"}],"Clinical course":[{"id":"HP:0003811","name":"Neonatal death","metadata":{"sex":"","onset":"","frequency":"1/5","sources":["PMID:23022099"]},"category":"Clinical course"},{"id":"HP:0003577","name":"Congenital onset","metadata":{"sex":"","onset":"","frequency":"5/5","sources":["PMID:23022099"]},"category":"Clinical course"},{"id":"HP:0003826","name":"Stillbirth","metadata":{"sex":"","onset":"","frequency":"1/5","sources":["PMID:23022099"]},"category":"Clinical course"},{"id":"HP:0003819","name":"Death in childhood","metadata":{"sex":"","onset":"","frequency":"1/5","sources":["PMID:23022099"]},"category":"Clinical course"},{"id":"HP:0001522","name":"Death in infancy","metadata":{"sex":"","onset":"","frequency":"12/15","sources":["PMID:23022099","OMIM:614922"]},"category":"Clinical course"}],"Metabolism/Laboratory abnormality":[{"id":"HP:0002490","name":"Increased CSF lactate","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Metabolism/Laboratory abnormality"},{"id":"HP:0001397","name":"Hepatic steatosis","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Metabolism/Laboratory abnormality"},{"id":"HP:0001947","name":"Renal tubular acidosis","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Metabolism/Laboratory abnormality"},{"id":"HP:0003128","name":"Lactic acidosis","metadata":{"sex":"","onset":"","frequency":"4/4","sources":["PMID:23022099"]},"category":"Metabolism/Laboratory abnormality"},{"id":"HP:0002151","name":"Increased circulating lactate concentration","metadata":{"sex":"","onset":"","frequency":"4/4","sources":["PMID:23022099"]},"category":"Metabolism/Laboratory abnormality"}],"Nervous System":[{"id":"HP:0003429","name":"CNS hypomyelination","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0001344","name":"Absent speech","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0002120","name":"Cerebral cortical atrophy","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0001250","name":"Seizure","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0001302","name":"Pachygyria","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0001263","name":"Global developmental delay","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0001336","name":"Myoclonus","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0002079","name":"Hypoplasia of the corpus callosum","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0001254","name":"Lethargy","metadata":{"sex":"","onset":"","frequency":"2/5","sources":["PMID:23022099"]},"category":"Nervous System"},{"id":"HP:0012448","name":"Delayed myelination","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0001284","name":"Areflexia","metadata":{"sex":"","onset":"","frequency":"1/5","sources":["PMID:23022099"]},"category":"Nervous System"},{"id":"HP:0009830","name":"Peripheral neuropathy","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:614922"]},"category":"Nervous System"},{"id":"HP:0001265","name":"Hyporeflexia","metadata":{"sex":"","onset":"","frequency":"2/5","sources":["PMID:23022099"]},"category":"Nervous System"}],"Cardiovascular":[{"id":"HP:0001638","name":"Cardiomyopathy","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:614922"]},"category":"Cardiovascular"}],"Genitourinary system":[{"id":"HP:0000083","name":"Renal insufficiency","metadata":{"sex":"","onset":"","frequency":"5/5","sources":["PMID:23022099"]},"category":"Genitourinary system"},{"id":"HP:0000107","name":"Renal cyst","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Genitourinary system"},{"id":"HP:0000110","name":"Renal dysplasia","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Genitourinary system"},{"id":"HP:0000089","name":"Renal hypoplasia","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Genitourinary system"}],"Inheritance":[{"id":"HP:0000007","name":"Autosomal recessive inheritance","metadata":{"sex":"","onset":"","frequency":"","sources":["PMID:23022099"]},"category":"Inheritance"}],"Ear":[{"id":"HP:0000365","name":"Hearing impairment","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Ear"}],"Musculature":[{"id":"HP:0006829","name":"Severe muscular hypotonia","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Musculature"},{"id":"HP:0003198","name":"Myopathy","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Musculature"},{"id":"HP:0001290","name":"Generalized hypotonia","metadata":{"sex":"","onset":"","frequency":"4/5","sources":["PMID:23022099"]},"category":"Musculature"}],"Head and neck":[{"id":"HP:0001308","name":"Tongue fasciculations","metadata":{"sex":"","onset":"","frequency":"2/5","sources":["PMID:23022099"]},"category":"Head and neck"}],"Respiratory System":[{"id":"HP:0002878","name":"Respiratory failure","metadata":{"sex":"","onset":"HP:0003623","frequency":"5/5","sources":["PMID:23022099"]},"category":"Respiratory System"}],"Digestive System":[{"id":"HP:0001410","name":"Decreased liver function","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Digestive System"},{"id":"HP:0002240","name":"Hepatomegaly","metadata":{"sex":"","onset":"","frequency":"Occasional","sources":["OMIM:614922"]},"category":"Digestive System"},{"id":"HP:0011968","name":"Feeding difficulties","metadata":{"sex":"","onset":"","frequency":"","sources":["OMIM:614922"]},"category":"Digestive System"}]},"genes":[{"id":"NCBIGene:55005","name":"RMND1"}],"medicalActions":[]}