{ "id": 10856, "label": "inborn mitochondrial myopathy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0009637", "properties": { "xrefs": [ "DOID:699", "GARD:0020371", "MEDGEN:56484", "MESH:D017240", "MedDRA:10027710", "NCIT:C101328", "Orphanet:206966", "UMLS:C0162670", "icd11.foundation:601991549" ], "synonyms": [ "mitochondrial myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Myopathy caused by mitochondrial abnormalities." }, "isLeaf": false, "isRoot": false, "child_count": 24, "parents": [ { "id": 4928, "label": "congenital structural myopathy", "isLeaf": false, "isRoot": false, "parents": [ 19669 ], "type_id": 0, "properties": { "xrefs": [ "DOID:422", "GARD:0023302", "MEDGEN:156050", "MESH:D020914", "NANDO:1200482", "NANDO:2200867", "NCIT:C84648", "UMLS:C0752282" ], "synonyms": [ "centronuclear myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills." }, "child_count": 6, "reference_id": "MONDO:0002921" }, { "id": 5908, "label": "inborn mitochondrial metabolism disorder", "isLeaf": false, "isRoot": false, "parents": [ 16198, 19107, 23488 ], "type_id": 0, "properties": { "xrefs": [ "DOID:700", "GARD:0018887", "MEDGEN:1778113", "MESH:D028361", "NANDO:1200173", "NANDO:2100163", "Orphanet:68380", "UMLS:C1456275" ], "synonyms": [ "mitochondrial disease", "mitochondrial genetic disorders", "mitochondrial metabolism disease" ], "definition": "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes." }, "child_count": 42, "reference_id": "MONDO:0004069" } ], "children": [ { "id": 3159, "label": "myopathy, lactic acidosis, and sideroblastic anemia", "isLeaf": false, "isRoot": false, "parents": [ 3000, 10856, 16918, 19734 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080099", "GARD:0003885", "MEDGEN:373888", "MESH:C536101", "OMIMPS:600462", "Orphanet:2598", "SCTID:724138007", "UMLS:C1838103", "icd11.foundation:678852156" ], "synonyms": [ "MLASA", "MSA", "mitochondrial myopathy and sideroblastic anaemia", "mitochondrial myopathy and sideroblastic anemia", "myopathy, lactic acidosis and sideroblastic anaemia", "myopathy, lactic acidosis and sideroblastic anemia", "myopathy, lactic acidosis, and siderblastic anaemia", "myopathy, lactic acidosis, and siderblastic anemia", "myopathy with lactic acidosis and sideroblastic anaemia", "myopathy with lactic acidosis and sideroblastic anemia", "sideroblastic anaemia and mitochondrial myopathy", "sideroblastic anemia and mitochondrial myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anemia around adolescence, lactic acidaemia, and mitochondrial myopathy." }, "child_count": 12, "reference_id": "MONDO:0000863" }, { "id": 6459, "label": "mitochondrial encephalomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "DOID:890", "GARD:0024084", "ICD9:277.87", "MEDGEN:57960", "MESH:D017237", "SCTID:447292006", "UMLS:C0162666" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)" }, "child_count": 2, "reference_id": "MONDO:0004675" }, { "id": 6902, "label": "progressive external ophthalmoplegia", "isLeaf": false, "isRoot": false, "parents": [ 4427, 5353, 10856, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12558", "EFO:0002509", "GARD:0004503", "HP:0000590", "ICD10CM:H49.4", "ICD9:378.72", "MEDGEN:102439", "MESH:D017246", "NANDO:1200174", "Orphanet:520820", "SCTID:46252003", "UMLS:C0162674", "icd11.foundation:1698427219" ], "synonyms": [ "chronic progressive external ophthalmoplegia [ambiguous]", "progressive external ophthalmoplegia", "chronic progressive external ophthalmoplegia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" }, "child_count": 12, "reference_id": "MONDO:0005181" }, { "id": 10857, "label": "mitochondrial myopathy with a defect in mitochondrial-protein transport", "isLeaf": true, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024683", "MEDGEN:381541", "MESH:C565376", "OMIM:251945", "UMLS:C1855034" ], "synonyms": [ "mitochondrial myopathy with a defect in mitochondrial-protein transport" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009638" }, { "id": 11698, "label": "Barth syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10856, 16076, 16607, 16878, 17675, 18270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050476", "GARD:0005890", "ICD10CM:E78.71", "MEDGEN:107893", "MESH:D056889", "NANDO:1200991", "NANDO:2200751", "NCIT:C84585", "NORD:840", "OMIM:302060", "Orphanet:111", "SCTID:297231002", "UMLS:C0574083", "icd11.foundation:452199926" ], "synonyms": [ "3-methylglutaconic aciduria type 2", "BTHS", "Barth syndrome", "Barth syndrome, X-linked recessive", "MGA2", "X-linked cardioskeletal myopathy and neutropenia", "cardioskeletal myopathy with neutropenia and abnormal mitochondria", "cardioskeletal myopathy-neutropenia syndrome", "3-Methylglutaconic aciduria, type 2", "3-methylglutaconic aciduria type II", "BARTH syndrome", "Mga, type 2", "TAZ defect" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" } ], "definition": "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." }, "child_count": 0, "reference_id": "MONDO:0010543" }, { "id": 11911, "label": "mitochondrial myopathy with diabetes", "isLeaf": true, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003881", "MEDGEN:333236", "MESH:C564026", "OMIM:500002", "Orphanet:2596", "UMLS:C1839028" ], "synonyms": [ "mitochondrial myopathy with diabetes", "mitochondrial myopathy, lipid type", "myopathy and diabetes mellitus" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010773" }, { "id": 11918, "label": "mitochondrial myopathy with reversible cytochrome C oxidase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017227", "MEDGEN:463248", "OMIM:500009", "Orphanet:254864", "UMLS:C3151898", "icd11.foundation:723205095" ], "synonyms": [ "benign COX deficiency", "infantile reversible cytochrome C oxidase deficiency myopathy", "mitochondrial myopathy with reversible COX deficiency", "mitochondrial myopathy with reversible complex IV deficiency", "reversible infantile cytochrome C oxidase deficiency", "reversible infantile respiratory chain deficiency", "Cox deficiency myopathy, infantile, transient", "MMIT", "mitochondrial myopathy, infantile, transient", "mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency", "respiratory chain deficiency, infantile, transient" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010780" }, { "id": 11929, "label": "lethal infantile mitochondrial myopathy", "isLeaf": true, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017226", "MEDGEN:374077", "MESH:C564017", "OMIM:551000", "Orphanet:254857", "SCTID:766251006", "UMLS:C1838876", "icd11.foundation:642272262" ], "synonyms": [ "LIMD", "LIMM", "lethal infantile mitochondrial disease", "mitochondrial myopathy, lethal, infantile" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures." }, "child_count": 0, "reference_id": "MONDO:0010792" }, { "id": 12916, "label": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "isLeaf": false, "isRoot": false, "parents": [ 4427, 10856, 17232, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111276", "GARD:0009998", "MEDGEN:375302", "OMIM:607459", "OMIM:613832", "Orphanet:402082", "Orphanet:70595", "UMLS:C1843851" ], "synonyms": [ "EPM5", "PME type 5", "PRICKLE2 progressive myoclonic epilepsy", "SANDO", "epilepsy, progressive myoclonic, type 5", "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)", "progressive myoclonic epilepsy caused by mutation in PRICKLE2", "progressive myoclonus epilepsy type 5", "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis", "epilepsy, progressive myoclonic, 5", "epilepsy, progressive myoclonic, 5, formerly", "epilepsy, progressive myoclonic, with sensory ataxic neuropathy", "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive", "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome", "spinocerebellar ataxia with epilepsy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions." }, "child_count": 4, "reference_id": "MONDO:0011835" }, { "id": 13235, "label": "mitochondrial trifunctional protein deficiency", "isLeaf": false, "isRoot": false, "parents": [ 4594, 10856 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111277", "GARD:0003684", "ICD9:277.85", "MEDGEN:370665", "MESH:C566945", "NANDO:1200974", "NANDO:2200515", "NANDO:2201147", "NCIT:C98991", "OMIMPS:609015", "Orphanet:746", "SCTID:237999008", "UMLS:C1969443", "icd11.foundation:1018083832" ], "synonyms": [ "TFP deficiency", "TFPD", "mitochondrial trifunctional protein deficiency", "MTPD", "mitochondrial trifunctional PROTEIN deficiency", "trifunctional Protein deficiency", "trifunctional Protein deficiency with myopathy and neuropathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.." }, "child_count": 4, "reference_id": "MONDO:0012172" }, { "id": 14066, "label": "adenosine monophosphate deaminase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 10856, 19100 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000547", "ICD10CM:E79.2", "ICD9:277.2", "MEDGEN:444140", "MESH:C538234", "Orphanet:45", "SCTID:9105005", "UMLS:C2931781", "icd11.foundation:550341491" ], "synonyms": [ "AMP deaminase deficiency", "myoadenylate deaminase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue." }, "child_count": 0, "reference_id": "MONDO:0013028" }, { "id": 14154, "label": "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10856, 16918 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010522", "MEDGEN:416525", "MESH:C567769", "OMIM:613076", "Orphanet:330054", "UMLS:C2751320" ], "synonyms": [ "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome", "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome", "myopathy, mitochondrial progressive, with congenital cataract and developmental delay", "mitochondrial Complex deficiency, combined", "myopathy with cataract and combined respiratory chain deficiency", "myopathy with cataract and combined respiratory-chain deficiency", "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013116" }, { "id": 15531, "label": "autosomal dominant mitochondrial myopathy with exercise intolerance", "isLeaf": true, "isRoot": false, "parents": [ 10856, 16918, 19746 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081357", "GARD:0017794", "MEDGEN:863950", "OMIM:616209", "Orphanet:457050", "UMLS:C4015513" ], "synonyms": [ "IMMD", "myopathy, isolated mitochondrial, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014532" }, { "id": 16322, "label": "fatal infantile encephalocardiomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 6933, 10856, 16918 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050713", "GARD:0016569", "MEDGEN:903874", "Orphanet:1561", "SCTID:718124006", "UMLS:C4273730" ], "synonyms": [ "fatal infantile COX deficiency", "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency", "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency", "fatal infantile cytochrome C oxidase deficiency", "fatal infantile encephalomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." }, "child_count": 12, "reference_id": "MONDO:0015487" }, { "id": 17251, "label": "mitochondrial myopathy-lactic acidosis-deafness syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003682", "MEDGEN:343245", "MESH:C537476", "OMIM:251950", "Orphanet:2597", "UMLS:C1855033" ], "synonyms": [ "mitochondrial myopathy with lactic acidosis", "mitochondrial myopathy-lactic acidosis-hearing loss syndrome", "MMLA", "metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973." }, "child_count": 0, "reference_id": "MONDO:0016825" }, { "id": 17856, "label": "mitochondrial neurogastrointestinal encephalomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 4370, 4427, 10856, 19102, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009920", "MEDGEN:167876", "MESH:C537477", "NCIT:C119678", "NORD:1449", "Orphanet:298", "SCTID:718214007", "UMLS:C0872218" ], "synonyms": [ "MNGIE", "Mitochondrial Neurogastrointestinal Encephalopathy", "Mitochondrial neurogastrointestinal encephalopathy", "mitochondrial Neurogastrointestingal encephalopathy", "MNGIE syndrome", "OGIMD", "POLIP", "mitochondrial neurogastrointestinal encephalopathy syndrome", "myoneurogastrointestinal encephalopathy syndrome", "oculogastrointestinal muscular dystrophy", "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction", "thymidine phosphorylase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy." }, "child_count": 20, "reference_id": "MONDO:0017575" }, { "id": 18177, "label": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy", "isLeaf": false, "isRoot": false, "parents": [ 10856, 16918 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017503", "MEDGEN:1393682", "Orphanet:329336", "SCTID:725464001", "UMLS:C4511138" ], "synonyms": [ "adult-onset CPEO with mitochondrial myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases." }, "child_count": 2, "reference_id": "MONDO:0018002" }, { "id": 18930, "label": "maternally-inherited progressive external ophthalmoplegia", "isLeaf": true, "isRoot": false, "parents": [ 10856, 16918, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016479", "Orphanet:663" ], "synonyms": [ "maternally-inherited CPEO", "maternally-inherited chronic progressive external ophthalmoplegia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0019016" }, { "id": 20121, "label": "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy", "isLeaf": true, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025221", "MEDGEN:1679560", "OMIM:251900", "UMLS:C5193223" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0020714" }, { "id": 22229, "label": "mitochondrial complex II deficiency, nuclear type", "isLeaf": false, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025696", "OMIMPS:252011" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0031230" }, { "id": 23402, "label": "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 10856 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017934", "MEDGEN:1620960", "OMIM:617675", "Orphanet:502423", "UMLS:C4540096" ], "synonyms": [ "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome", "MMYAT", "myopathy, mitochondrial, and ataxia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044714" }, { "id": 23886, "label": "X-linked recessive mitochondrial myopathy", "isLeaf": true, "isRoot": false, "parents": [ 4427, 10856, 20040, 24271 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026061" ], "synonyms": [ "X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features." }, "child_count": 0, "reference_id": "MONDO:0100138" }, { "id": 23965, "label": "mitochondrial complex I deficiency, nuclear type 1", "isLeaf": true, "isRoot": false, "parents": [ 10856, 23964 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112074", "GARD:0015201", "NANDO:1200180", "OMIM:252010" ], "synonyms": [ "mitochondrial complex 1 deficiency", "mitochondrial complex I deficiency", "MC1DN1", "NADH-coenzyme Q reductase deficiency", "NADH:Q(1) oxidoreductase deficiency", "mitochondrial NADH dehydrogenase component of Complex I, deficiency of", "mitochondrial complex I deficiency, nuclear type 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0100224" }, { "id": 25702, "label": "COX deficiency, benign infantile mitochondrial myopathy", "isLeaf": true, "isRoot": false, "parents": [ 10856, 22753 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081377", "GARD:0026855" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles." }, "child_count": 0, "reference_id": "MONDO:0957524" } ], "roots": [ { "id": 4928, "label": "congenital structural myopathy" }, { "id": 5908, "label": "inborn mitochondrial metabolism disorder" } ] }