{ "id": 16878, "label": "familial dilated cardiomyopathy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0016333", "properties": { "xrefs": [ "GARD:0020525", "MEDGEN:90951", "MESH:C536231", "OMIMPS:115200", "Orphanet:217607", "UMLS:C0340427", "icd11.foundation:423719003" ], "synonyms": [ "hereditary dilated cardiomyopathy", "DCM", "dilated cardiomyopathy, familial", "hypokinetic dilated cardiomyopathy, familial", "idiopathic dilated cardiomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure." }, "isLeaf": false, "isRoot": false, "child_count": 29, "parents": [ { "id": 6757, "label": "dilated cardiomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 3007 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12930", "EFO:0000407", "GARD:0000221", "HP:0001644", "ICD10CM:I42.0", "ICD9:425.4", "MEDGEN:2880", "MESH:D002311", "MedDRA:10056370", "NANDO:2100057", "NANDO:2200232", "NCIT:C84673", "Orphanet:217604", "SCTID:195021004", "UMLS:C0007193", "icd11.foundation:1916294688" ], "synonyms": [ "dilated cardiomyopathy", "familial dilated cardiomyopathy", "idiopathic dilation cardiomyopathy", "primary dilated cardiomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure." }, "child_count": 3, "reference_id": "MONDO:0005021" }, { "id": 6933, "label": "familial cardiomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 6735, 24272 ], "type_id": 0, "properties": { "xrefs": [ "EFO:0002945", "GARD:0024166", "ICD9:425.4", "MEDGEN:538845", "SCTID:35728003", "UMLS:C0264789", "icd11.foundation:1018022925" ], "synonyms": [ "hereditary cardiomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome." }, "child_count": 18, "reference_id": "MONDO:0005217" } ], "children": [ { "id": 10891, "label": "autosomal recessive limb-girdle muscular dystrophy type 2C", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16748, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110277", "GARD:0002429", "MEDGEN:98045", "MESH:C535900", "OMIM:253700", "Orphanet:353", "UMLS:C0410173" ], "synonyms": [ "DMDA1", "LGMD2C", "Maghrebian myopathy", "SCARMD", "SGCG autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG", "autosomal recessive limb-girdle muscular dystrophy type 2C", "gamma-sarcoglycanopathy", "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 5", "muscular dystrophy, limb-girdle, type 2C", "Adhalin deficiency, secondary", "Dmda", "Duchenne-like muscular dystrophy, autosomal recessive, type 1", "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency", "limb-girdle muscular dystrophy, type 2C", "muscular dystrophy, Duchenne-like", "sarcoglycan, gamma, deficiency of", "severe childhood autosomal recessive muscular dystrophy, North African type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported." }, "child_count": 0, "reference_id": "MONDO:0009677" }, { "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": 11909, "label": "histiocytoid cardiomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 5908, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080198", "GARD:0009511", "MEDGEN:310844", "MESH:C535584", "NCIT:C45745", "OMIM:500000", "Orphanet:137675", "UMLS:C1708371", "icd11.foundation:1870618141" ], "synonyms": [ "Arachnocytosis of the myocardium", "Purkinje cell hamartoma", "congenital cardiomyopathy", "foamy myocardial transformation of infancy", "histiocytoid cardiomyopathy", "infantile cardiomyopathy with histiocytoid change", "infantile xanthomatous cardiomyopathy", "isolated Cardiac lipidosis", "myocardial hamartoma", "oncocytic cardiomyopathy", "cardiomyopathy, focal Lipid", "cardiomyopathy, infantile histiocytoid", "cardiomyopathy, infantile xanthomatous", "cardiomyopathy, oncocytic", "focal lipid cardiomyopathy", "infantile histiocytoid cardiomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." }, "child_count": 2, "reference_id": "MONDO:0010771" }, { "id": 11924, "label": "Kearns-Sayre syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6902, 16878, 16918, 19748, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12934", "GARD:0006817", "ICD10CM:H49.81", "MEDGEN:9618", "MESH:D007625", "MedDRA:10048804", "NANDO:1201064", "NANDO:2200529", "NCIT:C84798", "NORD:1323", "OMIM:530000", "Orphanet:480", "SCTID:25792000", "UMLS:C0022541", "icd11.foundation:399100745" ], "synonyms": [ "Kearns Sayre Syndrome", "Kearns-Sayre syndrome", "CPEO with myopathy", "CPEO with ragged red fibers", "CPEO with ragged red fibres", "CPEO with ragged-Red fibers", "CPEO with ragged-Red fibres", "KSS", "chronic progressive external ophthalmoplegia with myopathy", "mitochondrial Cytopathy", "oculocraniosomatic syndrome", "ophthalmoplegia plus syndrome", "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy", "ophthalmoplegia, progressive external, with ragged red fibers", "ophthalmoplegia, progressive external, with ragged red fibres", "ophthalmoplegia, progressive external, with ragged-Red fibers", "ophthalmoplegia, progressive external, with ragged-Red fibres", "ophthalmoplegia-plus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." }, "child_count": 0, "reference_id": "MONDO:0010787" }, { "id": 11925, "label": "Leber hereditary optic neuropathy", "isLeaf": false, "isRoot": false, "parents": [ 16878, 16918, 19769, 23256 ], "type_id": 0, "properties": { "xrefs": [ "DOID:705", "GARD:0006870", "MEDGEN:182973", "MESH:D029242", "NANDO:1200178", "NANDO:1200940", "NCIT:C84808", "NORD:1352", "OMIM:535000", "Orphanet:104", "SCTID:58610003", "UMLS:C0917796", "icd11.foundation:1018428959" ], "synonyms": [ "LHON", "Leber Hereditary optic atrophy", "Leber hereditary optic neuropathy", "Leber optic atrophy", "Leber’s disease", "optic atrophy, Leber type" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." }, "child_count": 4, "reference_id": "MONDO:0010788" }, { "id": 12154, "label": "autosomal recessive limb-girdle muscular dystrophy type 2F", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16749, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110280", "GARD:0008573", "MEDGEN:331308", "MESH:C535896", "OMIM:601287", "Orphanet:219", "SCTID:718177001", "UMLS:C1832525" ], "synonyms": [ "delta-sarcoglycanopathy", "LGMD2F", "SGCD autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD", "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency", "muscular dystrophy, limb-girdle, autosomal recessive 6", "limb-girdle muscular dystrophy type 2F", "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency", "muscular dystrophy, limb-girdle, type 2F" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." }, "child_count": 0, "reference_id": "MONDO:0011028" }, { "id": 12202, "label": "myofibrillar myopathy 1", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16774, 16878, 18865, 24271 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080092", "DOID:0110286", "GARD:0016870", "MEDGEN:330449", "OMIM:601419", "OMIM:615325", "Orphanet:363543", "Orphanet:98909", "UMLS:C1832370" ], "synonyms": [ "DES autosomal recessive limb-girdle muscular dystrophy", "DES myofibrillar myopathy (disease)", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES", "autosomal recessive limb-girdle muscular dystrophy type 2R", "desmin-related myofibrillar myopathy", "desminopathy", "myofibrillar myopathy (disease) caused by mutation in DES", "myofibrillar myopathy 1", "myofibrillar myopathy type 1", "myopathy, myofibrillar, type 1", "CMD1F and LGMD1D", "CMD1F and LGMD1D, formerly", "IBM1", "MFM1", "arrhythmogenic right ventricular cardiomyopathy 7", "arrhythmogenic right ventricular cardiomyopathy 7, formerly", "arrhythmogenic right ventricular dysplasia, familial, 7", "arrhythmogenic right ventricular dysplasia, familial, 7, formerly", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D", "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly", "cardiomyopathy, dilated, with conduction defect and muscular dystrophy", "desmin-related myopathy", "desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy", "desminopathy, primary", "inclusion body myopathy 1, autosomal dominant", "inclusion body myopathy 1, autosomal dominant, formerly", "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy", "myopathy, myofibrillar, 1", "myopathy, myofibrillar, desmin-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure." }, "child_count": 0, "reference_id": "MONDO:0011076" }, { "id": 12528, "label": "autosomal recessive limb-girdle muscular dystrophy type 2E", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16747, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110279", "GARD:0003851", "MEDGEN:347674", "OMIM:604286", "Orphanet:119", "SCTID:718850008", "UMLS:C1858593" ], "synonyms": [ "beta-sarcoglycanopathy", "LGMD due to beta-sarcoglycan deficiency", "LGMD type 2E", "LGMD2E", "LGMDR4", "SGCB autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB", "autosomal recessive limb-girdle muscular dystrophy type 2E", "beta-sarcoglycan-related LGMD R4", "beta-sarcoglycan-related limb-girdle muscular dystrophy R4", "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency", "limb-girdle muscular dystrophy type 2E", "muscular dystrophy, limb-girdle, autosomal recessive 4", "muscular dystrophy, limb-girdle, type 2E", "beta-sarcoglycan limb-girdle muscular dystrophy", "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." }, "child_count": 0, "reference_id": "MONDO:0011423" }, { "id": 12639, "label": "dilated cardiomyopathy 1J", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110440", "GARD:0017128", "MEDGEN:343105", "MESH:C565337", "OMIM:605362", "Orphanet:217622", "UMLS:C1854368" ], "synonyms": [ "CMD1J", "EYA4 familial dilated cardiomyopathy", "cardiomyopathy, dilated, type 1J", "dilated cardiomyopathy 1J", "dilated cardiomyopathy type 1J", "familial dilated cardiomyopathy caused by mutation in EYA4", "neurosensory deafness with dilated cardiomyopathy", "neurosensory hearing loss with dilated cardiomyopathy", "sensorineural deafness with dilated cardiomyopathy", "sensorineural hearing loss with dilated cardiomyopathy", "cardiomyopathy, dilated, 1J", "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure." }, "child_count": 0, "reference_id": "MONDO:0011541" }, { "id": 12924, "label": "hypertrophic cardiomyopathy 25", "isLeaf": true, "isRoot": false, "parents": [ 16779, 16878, 21518 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110328", "GARD:0024827", "MEDGEN:895360", "MESH:C564388", "OMIM:607487", "UMLS:C4225408" ], "synonyms": [ "CMH25", "TCAP hypertrophic cardiomyopathy", "Tcap hypertrophic cardiomyopathy", "cardiomyopathy, familial hypertrophic, type 25", "cardiomyopathy, hypertrophic, 25", "hypertrophic cardiomyopathy caused by mutation in TCAP", "hypertrophic cardiomyopathy type 25", "cardiomyopathy, familial hypertrophic, 25" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene." }, "child_count": 0, "reference_id": "MONDO:0011843" }, { "id": 13039, "label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16746, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110278", "GARD:0000438", "MEDGEN:424706", "NCIT:C142081", "OMIM:608099", "Orphanet:62", "SCTID:715340002", "UMLS:C2936332" ], "synonyms": [ "Alpha-sarcoglycanopathy", "DMDA2", "LGMD2D", "SGCA autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA", "limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency", "limb-girdle muscular dystrophy type 2D", "muscular dystrophy, limb-girdle, autosomal recessive 3", "muscular dystrophy, limb-girdle, type 2D", "Adhalinopathy, primary", "Duchenne-like autosomal recessive muscular dystrophy, type 2", "limb-girdle muscular dystrophy, type 2D", "muscular dystrophy limb-girdle with alpha-sarcoglycan" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare." }, "child_count": 0, "reference_id": "MONDO:0011968" }, { "id": 13604, "label": "DK1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 4370, 7156, 16878, 17978, 23867 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080565", "GARD:0012393", "MEDGEN:332072", "MESH:C563666", "OMIM:610768", "Orphanet:91131", "SCTID:718712005", "UMLS:C1835849" ], "synonyms": [ "CDG syndrome type Im", "CDG-Im", "CDG1M", "DK1-CDG", "DK1-congenital disorder of glycosylation", "carbohydrate deficient glycoprotein syndrome type Im", "congenital disorder of glycosylation type 1m", "congenital disorder of glycosylation type Im", "dolichol kinase deficiency", "hypotonia and ichthyosis due to dolichol phosphate deficiency", "CDG Im", "CDGIm", "DOLK-CDG (CDG-Im)", "Dk1 deficiency", "congenital disorder of glycosylation, type Im" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity." }, "child_count": 0, "reference_id": "MONDO:0012556" }, { "id": 13739, "label": "autosomal recessive limb-girdle muscular dystrophy type 2M", "isLeaf": true, "isRoot": false, "parents": [ 2758, 16084, 16878, 24463 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110296", "GARD:0012538", "MEDGEN:370585", "MESH:C566912", "OMIM:611588", "Orphanet:206554", "UMLS:C1969040" ], "synonyms": [ "FKTN autosomal recessive limb-girdle muscular dystrophy", "LGMD-FKTN related", "LGMD2M", "MDDGC4", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN", "limb-girdle muscular dystrophy type 2M", "muscular dystrophy, limb-girdle, type 2M", "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." }, "child_count": 0, "reference_id": "MONDO:0012699" }, { "id": 13754, "label": "early-onset myopathy with fatal cardiomyopathy", "isLeaf": true, "isRoot": false, "parents": [ 16878, 24219, 24271 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081341", "GARD:0017324", "MEDGEN:435983", "MESH:C567129", "OMIM:611705", "Orphanet:289377", "SCTID:702343002", "UMLS:C2673677" ], "synonyms": [ "Salih myopathy", "EOMFC", "SALMY", "myopathy, early-onset, with fatal cardiomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0012714" }, { "id": 14978, "label": "PGM1-congenital disorder of glycosylation", "isLeaf": true, "isRoot": false, "parents": [ 7156, 16878, 17973 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080570", "GARD:0004329", "MEDGEN:414536", "MESH:C567859", "NANDO:1200836", "OMIM:614921", "Orphanet:319646", "UMLS:C2752015", "icd11.foundation:1592319293" ], "synonyms": [ "CDG syndrome type It", "CDG-It", "CDG1T", "PGM1-CDG", "PGM1-congenital disorder of glycosylation", "congenital disorder of glycosylation type 1t", "congenital disorder of glycosylation type It", "phosphoglucomutase-1 deficiency", "CDG it", "GSD 14", "GSD type 14", "GSDXIV", "Pgm1 deficiency", "congenital disorder of glycosylation, type It", "glycogen storage disease 14", "glycogen storage disease due to phosphoglucomutase deficiency", "phosphoglucomutase 1 deficiency", "phosphoglucomutase deficiency type 1", "type 14 glycogenosis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0013968" }, { "id": 15776, "label": "autosomal recessive limb-girdle muscular dystrophy type 2W", "isLeaf": true, "isRoot": false, "parents": [ 16084, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110288", "GARD:0017834", "MEDGEN:897675", "OMIM:616827", "Orphanet:466801", "UMLS:C4225192" ], "synonyms": [ "LGMD2W", "LIMS2 autosomal recessive limb-girdle muscular dystrophy", "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2", "muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue", "muscular dystrophy, limb-girdle, type 2W", "muscular dystrophy, limb-girdle, type 2w" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration." }, "child_count": 0, "reference_id": "MONDO:0014788" }, { "id": 16724, "label": "symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers", "isLeaf": true, "isRoot": false, "parents": [ 16732, 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020350", "MEDGEN:1631985", "Orphanet:206546", "SCTID:765197008", "UMLS:C4707359" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation." }, "child_count": 0, "reference_id": "MONDO:0016097" }, { "id": 17256, "label": "Emery-Dreifuss muscular dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 16732, 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11726", "GARD:0006329", "MEDGEN:96078", "MESH:D020389", "NANDO:1200492", "NANDO:2200857", "NCIT:C84685", "NORD:1084", "OMIMPS:310300", "Orphanet:261", "SCTID:111508004", "UMLS:C0410189", "icd11.foundation:749295636" ], "synonyms": [ "EDMD", "Emery Dreifuss Muscular Dystrophy", "Emery-Dreifuss muscular dystrophy", "Humeroperoneal neuromuscular disease, (formerly)", "scapuloperoneal syndrome, X-linked (formerly)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy." }, "child_count": 8, "reference_id": "MONDO:0016830" }, { "id": 24709, "label": "familial isolated dilated cardiomyopathy", "isLeaf": false, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027293", "MEDGEN:1826005", "Orphanet:154", "UMLS:C5679590", "icd11.foundation:949016860" ], "synonyms": [ "familial isolated dilated cardiomyopathy", "familial or idiopathic dilated cardiomyopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present." }, "child_count": 45, "reference_id": "MONDO:0700335" }, { "id": 24956, "label": "cardiomyopathy, dilated, 1LL", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026526", "MEDGEN:815619", "UMLS:C3809289" ], "synonyms": [ "CMD1LL" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0800367" }, { "id": 24957, "label": "cardiomyopathy, dilated, 1MM", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081158", "GARD:0026527", "MEDGEN:815676", "UMLS:C3809346" ], "synonyms": [ "CMD1MM" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ], "definition": "A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11." }, "child_count": 0, "reference_id": "MONDO:0800368" }, { "id": 25507, "label": "cardiomyopathy, dilated, 100", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026727", "MEDGEN:1840927", "OMIM:620247", "UMLS:C5830291" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0859381" }, { "id": 25717, "label": "cardiomyopathy, dilated, 2I", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026864", "MEDGEN:1841321", "OMIM:620462", "UMLS:C5830685" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957545" }, { "id": 25783, "label": "cardiomyopathy, dilated, 2j", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026900", "MEDGEN:1846005", "OMIM:620635", "UMLS:C5882725" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0957984" }, { "id": 26082, "label": "cardiomyopathy, dilated, 2K", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027209", "MEDGEN:1861075", "OMIM:620894", "UMLS:C5935636" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0971175" }, { "id": 26245, "label": "cardiomyopathy, dilated, 2l", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028110", "MEDGEN:1876511", "OMIM:621237", "UMLS:C6012739" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979236" }, { "id": 26248, "label": "cardiomyopathy, dilated, 1QQ", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028113", "MEDGEN:1876479", "OMIM:621251", "UMLS:C6012742" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979239" }, { "id": 26252, "label": "cardiomyopathy, dilated, 2M", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028116", "MEDGEN:1876496", "OMIM:621261", "UMLS:C6012748" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0979243" }, { "id": 26419, "label": "cardiomyopathy, dilated, 3C", "isLeaf": true, "isRoot": false, "parents": [ 16878 ], "type_id": 0, "properties": { "xrefs": [ "OMIM:301163" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0981022" } ], "roots": [ { "id": 6757, "label": "dilated cardiomyopathy" }, { "id": 6933, "label": "familial cardiomyopathy" } ] }