{ "id": 24618, "label": "hereditary skeletal muscle disorder", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0700223", "properties": { "xrefs": [ "GARD:0026375" ], "synonyms": [ "genetic muscle disease", "genetic muscle disorder", "genetic muscular disease", "genetic muscular disorder", "hereditary muscle disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual." }, "isLeaf": false, "isRoot": false, "child_count": 33, "parents": [ { "id": 5714, "label": "hereditary disease", "isLeaf": false, "isRoot": false, "parents": [ 29382 ], "type_id": 0, "properties": { "xrefs": [ "DOID:630", "EFO:0000508", "ICD9:799.89", "MEDGEN:5527", "MESH:D030342", "NCIT:C3101", "SCTID:32895009", "UMLS:C0019247" ], "synonyms": [ "genetic condition", "genetic disease", "genetic disorder", "hereditary disease", "hereditary disease or disorder", "hereditary diseases", "inherited disease", "inherited genetic disease", "molecular disease", "Mendelian disease", "familial disorder", "inborn disorder" ], "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome." }, "child_count": 1925, "reference_id": "MONDO:0003847" }, { "id": 19743, "label": "skeletal muscle disorder", "isLeaf": false, "isRoot": false, "parents": [ 5798 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:735900", "MedDRA:10028641", "Orphanet:98472", "SCTID:75047002", "UMLS:C1533847" ], "synonyms": [ "disease of skeletal muscle tissue", "disease or disorder of skeletal muscle tissue", "disorder of skeletal muscle tissue", "skeletal muscle tissue disease", "skeletal muscle tissue disease or disorder" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A disease involving the skeletal muscle tissue." }, "child_count": 13, "reference_id": "MONDO:0020120" } ], "children": [ { "id": 2764, "label": "polyglucosan body myopathy", "isLeaf": false, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022725", "OMIMPS:615895" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0000192" }, { "id": 7340, "label": "congenital diaphragmatic hernia", "isLeaf": false, "isRoot": false, "parents": [ 7354, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:3827", "EFO:0007216", "GARD:0001481", "ICD10CM:Q79.0", "MEDGEN:68625", "MESH:D065630", "MedDRA:10010439", "NANDO:1200911", "NANDO:2100040", "NANDO:2200210", "NCIT:C98893", "OMIMPS:142340", "Orphanet:2140", "UMLS:C0235833", "icd11.foundation:1414428936" ], "synonyms": [ "diaphragmatic hernia", "CDH", "congenital diaphragmatic hernia", "agenesis of hemidiaphragm", "congenital diaphragmatic defect", "unilateral agenesis of diaphragm" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005087", "name": "respiratory system disorder" } ], "definition": "A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." }, "child_count": 10, "reference_id": "MONDO:0005711" }, { "id": 9504, "label": "paramyotonia congenita of Von Eulenburg", "isLeaf": true, "isRoot": false, "parents": [ 16737, 24618, 25054 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111538", "GARD:0007325", "ICD9:359.29", "MEDGEN:113142", "NANDO:1200501", "NCIT:C122790", "OMIM:168300", "Orphanet:684", "SCTID:41574007", "UMLS:C0221055", "icd11.foundation:1740060527" ], "synonyms": [ "paramyotonia congenita", "paramyotonia congenita of Von Eulenburg", "Eulenburg disease", "PMC", "Von Eulenburg paramyotonia congenita", "myotonia congenita intermittens", "paralysis periodica Paramyotonica", "paramyotonia congenita of VON Eulenburg", "paramyotonia congenita without cold paralysis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3)." }, "child_count": 0, "reference_id": "MONDO:0008195" }, { "id": 9569, "label": "Poland syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16594, 18956, 19479, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12961", "GARD:0007412", "ICD9:756.89", "MEDGEN:10822", "MESH:D011045", "MedDRA:10036007", "NCIT:C85017", "NORD:1587", "OMIM:173800", "Orphanet:2911", "SCTID:38371006", "UMLS:C0032357", "icd11.foundation:1364451323" ], "synonyms": [ "Poland anomaly", "Poland sequence", "Poland syndrome", "Poland syndactyly", "Poland's syndrome", "pectoralis muscle, absence of", "unilateral defect of pectoralis muscle and syndactyly of the hand" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0002657", "name": "breast disorder" } ], "definition": "Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly." }, "child_count": 0, "reference_id": "MONDO:0008262" }, { "id": 10726, "label": "metabolic myopathy due to lactate transporter defect", "isLeaf": true, "isRoot": false, "parents": [ 19746, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017067", "MEDGEN:344529", "MESH:C565449", "OMIM:245340", "Orphanet:171690", "SCTID:766715000", "UMLS:C1855577" ], "synonyms": [ "erythrocyte lactate transporter defect", "lactate transporter defect, myopathy due to" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase." }, "child_count": 0, "reference_id": "MONDO:0009501" }, { "id": 10916, "label": "myopathy with abnormal lipid metabolism", "isLeaf": true, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024689", "MEDGEN:934789", "MESH:C562935", "OMIM:255100", "SCTID:240095001", "UMLS:C4310822" ], "synonyms": [ "myopathy with abnormal lipid metabolism", "LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency", "LSMFLAD", "lipid storage myopathy", "lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009703" }, { "id": 10919, "label": "hereditary myopathy with lactic acidosis due to ISCU deficiency", "isLeaf": true, "isRoot": false, "parents": [ 19746, 23488, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016643", "ICD9:259.8", "MEDGEN:342573", "MESH:C564972", "OMIM:255125", "Orphanet:43115", "SCTID:699268002", "UMLS:C1850718" ], "synonyms": [ "ISCU myopathy", "aconitase deficiency", "iron-sulfur cluster deficiency myopathy", "myopathy with exercise intolerance, Swedish type", "HML", "myoglobinuria due to abnormal glycolysis", "myopathy with deficiency of succinate dehydrogenase and aconitase", "myopathy with lactic acidosis, hereditary" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase." }, "child_count": 0, "reference_id": "MONDO:0009706" }, { "id": 10927, "label": "myosclerosis", "isLeaf": true, "isRoot": false, "parents": [ 23966, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027790", "MEDGEN:338098", "MESH:C564968", "MedDRA:10064584", "OMIM:255600", "Orphanet:289380", "SCTID:763895001", "UMLS:C1850671", "icd11.foundation:2105106550" ], "synonyms": [ "congenital myosclerosis, LC6wenthal type", "congenital myosclerosis, Löwenthal type", "myosclerosis, congenital", "myopathy, myosclerotic", "myosclerosis, autosomal recessive", "myosclerosis, congenital, of Lowenthal" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries." }, "child_count": 0, "reference_id": "MONDO:0009714" }, { "id": 12056, "label": "proximal myopathy with focal depletion of mitochondria", "isLeaf": true, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017956", "MEDGEN:318881", "MESH:C563453", "OMIM:600706", "Orphanet:521305", "UMLS:C1833453" ], "synonyms": [ "proximal myopathy with focal depletion of mitochondria" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010923" }, { "id": 12105, "label": "Brody myopathy", "isLeaf": true, "isRoot": false, "parents": [ 7023, 16785, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050692", "GARD:0009158", "ICD9:359.89", "MEDGEN:371441", "MESH:C536607", "OMIM:601003", "Orphanet:53347", "SCTID:703530005", "UMLS:C1832918" ], "synonyms": [ "Brody myopathy", "Brody disease", "sarcoplasmic reticulum -Ca2+ATPase deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder." }, "child_count": 0, "reference_id": "MONDO:0010977" }, { "id": 15226, "label": "myopathy due to myoadenylate deaminase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0015248", "MEDGEN:811508", "NCIT:C157504", "OMIM:615511", "UMLS:C3714933" ], "synonyms": [ "myopathy due to myoadenylate deaminase deficiency", "AMP deaminase 1 deficiency", "AMP deaminase deficiency", "AMPD1 deficiency", "MMDD", "adenosine monophosphate deaminase 1 deficiency", "adenosine monophosphate deaminase deficiency", "adenosine monophosphate deaminase-1 deficiency, myopathy due to", "myoadenylate deaminase deficiency", "myoadenylate deaminase deficiency, myopathy due to" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014220" }, { "id": 15304, "label": "proximal myopathy with extrapyramidal signs", "isLeaf": true, "isRoot": false, "parents": [ 7023, 7073, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111335", "GARD:0012978", "MEDGEN:816615", "OMIM:615673", "Orphanet:401768", "UMLS:C3810285" ], "synonyms": [ "MPXPS", "myopathy with extrapyramidal signs" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy." }, "child_count": 0, "reference_id": "MONDO:0014300" }, { "id": 15545, "label": "myopathy due to calsequestrin and SERCA1 protein overload", "isLeaf": true, "isRoot": false, "parents": [ 16785, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016770", "MEDGEN:864061", "OMIM:616231", "Orphanet:88635", "SCTID:724095006", "UMLS:C4015624" ], "synonyms": [ "VMCQA", "myopathy, vacuolar, with CASQ1 aggregates" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Myopathy due to calsequestrin and SERCA1 protein overload is characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms." }, "child_count": 0, "reference_id": "MONDO:0014546" }, { "id": 16735, "label": "hereditary inclusion-body myopathy", "isLeaf": false, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020364", "MEDGEN:1843174", "Orphanet:206662", "UMLS:C5680794" ], "synonyms": [ "inclusion myopathy", "cytoplasmic body myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 16, "reference_id": "MONDO:0016112" }, { "id": 18881, "label": "potassium-aggravated myotonia", "isLeaf": false, "isRoot": false, "parents": [ 16737, 24618, 25054 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004459", "MEDGEN:444151", "MESH:C538353", "NANDO:1200500", "NCIT:C122788", "OMIM:608390", "Orphanet:612", "SCTID:702355008", "UMLS:C2931826", "icd11.foundation:1707250468" ], "synonyms": [ "K+-aggravated myotonia", "K-aggravated myotonia", "PAM", "Potassium aggravated myotonia", "myotonia congenita, atypical, acetazolamide-responsive", "Laryngospasm, Severe Neonatal Episodic", "MYOTONIA, POTASSIUM-AGGRAVATED", "Myotonia Congenita, Acetazolamide-Responsive", "Myotonia Congenita, Atypical", "Myotonia Fluctuans", "Myotonia Permanens", "Sodium Channel Muscle Disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia." }, "child_count": 9, "reference_id": "MONDO:0018959" }, { "id": 19661, "label": "hereditary continuous muscle fiber activity", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001512", "MEDGEN:331775", "Orphanet:972", "UMLS:C1834559" ], "synonyms": [ "continuous muscle fiber activity hereditary", "continuous muscle fiber activity, hereditary", "continuous muscle fibre activity hereditary", "continuous muscle fibre activity, hereditary" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia." }, "child_count": 0, "reference_id": "MONDO:0019943" }, { "id": 19669, "label": "congenital myopathy", "isLeaf": false, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080100", "DOID:0081337", "GARD:0005898", "MEDGEN:124381", "MedDRA:10062547", "NANDO:1200477", "NANDO:2100234", "OMIMPS:117000", "Orphanet:97245", "UMLS:C0270960", "icd11.foundation:1185572073" ], "synonyms": [ "congenital myopathy", "Batten Turner congenital myopathy", "myopathy congenital" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 106, "reference_id": "MONDO:0019952" }, { "id": 19744, "label": "muscular dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 7023, 24271, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9884", "GARD:0007922", "ICD10CM:G71.0", "ICD9:359.1", "MEDGEN:44527", "MESH:D009136", "MedDRA:10028356", "NANDO:1200486", "NANDO:2100233", "NCIT:C84910", "Orphanet:98473", "SCTID:73297009", "UMLS:C0026850", "icd11.foundation:1464662404" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities." }, "child_count": 33, "reference_id": "MONDO:0020121" }, { "id": 20111, "label": "inherited rippling muscle disease", "isLeaf": false, "isRoot": false, "parents": [ 12729, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025217", "MedDRA:10069417" ], "synonyms": [ "RMD", "rippling muscle disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase." }, "child_count": 4, "reference_id": "MONDO:0020704" }, { "id": 21691, "label": "Wieacker-Wolff syndrome (spectrum)", "isLeaf": false, "isRoot": false, "parents": [ 16094, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025477", "OMIMPS:314580" ], "synonyms": [ "ZARD", "ZC4H2-associated disorder", "ZC4H2-associated rare disorders" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 4, "reference_id": "MONDO:0025445" }, { "id": 24255, "label": "myopathy caused by variation in CRPPA", "isLeaf": false, "isRoot": false, "parents": [ 7023, 16755, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026264" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the CRPPA gene." }, "child_count": 6, "reference_id": "MONDO:0100530" }, { "id": 24462, "label": "myopathy caused by variation in FKRP", "isLeaf": false, "isRoot": false, "parents": [ 7023, 17974, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026339" ], "synonyms": [ "FKRP myopathy", "FKRP-related myopathy", "myopathy caused by mutation in FKRP" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the FKRP gene." }, "child_count": 9, "reference_id": "MONDO:0700066" }, { "id": 24463, "label": "myopathy caused by variation in FKTN", "isLeaf": false, "isRoot": false, "parents": [ 7023, 16755, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026340" ], "synonyms": [ "FKTN myopathy", "FKTN-related myopathy", "myopathy caused by mutation in FKTN" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the FKTN gene." }, "child_count": 9, "reference_id": "MONDO:0700067" }, { "id": 24464, "label": "myopathy caused by variation in POMGNT1", "isLeaf": false, "isRoot": false, "parents": [ 4427, 7023, 17974, 24270, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026341" ], "synonyms": [ "POMGNT1 myopathy", "POMGNT1-related myopathy", "myopathy caused by mutation in POMGNT1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene." }, "child_count": 15, "reference_id": "MONDO:0700068" }, { "id": 24465, "label": "myopathy caused by variation in POMGNT2", "isLeaf": false, "isRoot": false, "parents": [ 7023, 17974, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026342" ], "synonyms": [ "POMGNT2 myopathy", "POMGNT2-related myopathy", "myopathy caused by mutation in POMGNT2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene." }, "child_count": 3, "reference_id": "MONDO:0700069" }, { "id": 24466, "label": "myopathy caused by variation in POMT1", "isLeaf": false, "isRoot": false, "parents": [ 7023, 16755, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026343" ], "synonyms": [ "POMT1 myopathy", "POMT1-related myopathy", "myopathy caused by mutation in POMT1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the POMT1 gene." }, "child_count": 9, "reference_id": "MONDO:0700070" }, { "id": 24467, "label": "myopathy caused by variation in POMT2", "isLeaf": false, "isRoot": false, "parents": [ 7023, 16755, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026344" ], "synonyms": [ "POMT2 myopathy", "POMT2-related myopathy", "myopathy caused by mutation in POMT2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the POMT2 gene." }, "child_count": 9, "reference_id": "MONDO:0700071" }, { "id": 24480, "label": "myopathy caused by variation in GMPPB", "isLeaf": false, "isRoot": false, "parents": [ 7023, 16755, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026352" ], "synonyms": [ "GMPPB-related myopathy", "myopathy caused by mutation in GMPPB" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any myopathy in which the cause of the disease is a variation in the GMPPB gene." }, "child_count": 9, "reference_id": "MONDO:0700084" }, { "id": 24723, "label": "ACTN2-related cardiac and skeletal myopathy", "isLeaf": false, "isRoot": false, "parents": [ 24272, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028023" ], "synonyms": [ "ACTN2 familial isolated dilated cardiomyopathy", "CMD1AA", "cardiomyopathy, dilated, 1AA, with or without LVNC", "cardiomyopathy, hypertrophic, 23, with or without LVNC", "dilated cardiomyopathy 1AA with or without left ventricular noncompaction", "dilated cardiomyopathy type 1AA", "familial isolated dilated cardiomyopathy caused by mutation in ACTN2" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A cardiac and skeletal muscle disorder caused by variation in the gene ACTN2. Cardiac features include but are not limited to cardiac features such as dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, arrhythmias, left ventricular non-compaction, and left-dominant arrhythmogenic cardiomyopathy. Skeletal features include but are not limited to progressive distal and/or proximal muscle weakness, gait disturbance, muscle atrophy, and elevated creatine kinase." }, "child_count": 6, "reference_id": "MONDO:0700349" }, { "id": 25048, "label": "FHL1-related myopathy", "isLeaf": false, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026563" ], "synonyms": [ "FHL1-related myopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ], "definition": "A group of myopathies that includes Emery-Dreifuss muscular dystrophy (EDMD), and two allelic disorders characterized by the presence of reducing body on histopathology, namely reducing body myopathy (RBM) and scapuloperoneal myopathy." }, "child_count": 10, "reference_id": "MONDO:0800462" }, { "id": 25530, "label": "myopathy, sarcoplasmic body", "isLeaf": true, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026741", "MEDGEN:1840998", "OMIM:620286", "UMLS:C5830362" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859530" }, { "id": 26121, "label": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061184", "GARD:0027327", "MEDGEN:1874979", "OMIM:620971", "UMLS:C5975449" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" } ] }, "child_count": 0, "reference_id": "MONDO:0975830" }, { "id": 26256, "label": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis", "isLeaf": true, "isRoot": false, "parents": [ 7023, 24618 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028118", "OMIMPS:620138" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979249" } ], "roots": [ { "id": 5714, "label": "hereditary disease" }, { "id": 19743, "label": "skeletal muscle disorder" } ] }