{ "id": 19667, "label": "congenital muscular dystrophy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019950", "properties": { "xrefs": [ "DOID:0050557", "GARD:0009138", "ICD9:359.0", "MEDGEN:147063", "Orphanet:97242", "SCTID:240059009", "UMLS:C0699743", "icd11.foundation:396687076" ], "synonyms": [ "CMD", "MDC", "congenital MD" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted." }, "isLeaf": false, "isRoot": false, "child_count": 23, "parents": [ { "id": 4427, "label": "congenital nervous system disorder", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2490", "ICD9:742", "MEDGEN:105425", "NCIT:C97172", "UMLS:C0497552" ], "synonyms": [ "congenital abnormality of the nervous system", "congenital nervous system disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period." }, "child_count": 217, "reference_id": "MONDO:0002320" }, { "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" } ], "children": [ { "id": 2862, "label": "Ullrich congenital muscular dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 19667, 19669 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050558", "GARD:0004769", "MEDGEN:1642667", "MESH:C537521", "NANDO:1200215", "NANDO:2200862", "NCIT:C123438", "OMIMPS:254090", "Orphanet:75840", "SCTID:240062007", "UMLS:C4551860", "icd11.foundation:1011547453" ], "synonyms": [ "UCMD", "Ullrich scleroatonic muscular dystrophy", "scleroatonic Ullrich disease", "scleroatonic muscular dystrophy", "Ullrich disease", "congenital muscular dystrophy, Ullrich type", "late onset scleroatonic familial myopathy (subtype)" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence." }, "child_count": 8, "reference_id": "MONDO:0000355" }, { "id": 9355, "label": "Bethlem myopathy", "isLeaf": false, "isRoot": false, "parents": [ 16732, 19667, 19669 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050663", "GARD:0000873", "MEDGEN:331805", "MESH:C535436", "NANDO:1200220", "NCIT:C126688", "OMIMPS:158810", "Orphanet:610", "SCTID:718572004", "UMLS:C1834674", "icd11.foundation:72734329" ], "synonyms": [ "Bethlem myopathy type 1", "benign autosomal dominant myopathy", "BTHLM1", "Bethlem myopathy 1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles." }, "child_count": 12, "reference_id": "MONDO:0008029" }, { "id": 10893, "label": "arthrogryposis due to muscular dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 16094, 19667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110631", "GARD:0000779", "MEDGEN:342608", "MESH:C564985", "OMIM:253900", "Orphanet:1155", "UMLS:C1850865" ], "synonyms": [ "congenital muscular dystrophy producing arthrogryposis", "muscular dystrophy, congenital, producing arthrogryposis" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009679" }, { "id": 10894, "label": "congenital muscular dystrophy-infantile cataract-hypogonadism syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000835", "MEDGEN:376896", "OMIM:254000", "Orphanet:1875", "UMLS:C1850864" ], "synonyms": [ "Bassoe syndrome", "benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract", "familial congenital muscular dystrophy with gonadal dysgenesis", "muscular dystrophy, congenital, infantile with cataract and hypogonadism", "muscular dystrophy, congenital, with infantile cataract and hypogonadism" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009680" }, { "id": 10896, "label": "muscular dystrophy, congenital, with rapid progression", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061202", "GARD:0024686", "MEDGEN:338135", "MESH:C564983", "OMIM:254100", "UMLS:C1850840" ], "synonyms": [ "muscular dystrophy, congenital, with rapid progression" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0009682" }, { "id": 10904, "label": "congenital myasthenic syndrome 10", "isLeaf": true, "isRoot": false, "parents": [ 19667, 19809 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110638", "DOID:0110668", "GARD:0015206", "ICD9:358.00", "MEDGEN:376880", "MESH:C563716", "OMIM:254300", "OMIM:609456", "SCTID:230687001", "UMLS:C1850792" ], "synonyms": [ "CMS10", "DOK7 congenital myasthenic syndrome", "congenital muscular dystrophy merosin-positive", "congenital myasthenic syndrome 10", "congenital myasthenic syndrome caused by mutation in DOK7", "congenital myasthenic syndrome type 10", "myasthenic syndrome, congenital, type 10", "CMS Ib", "CMS1B", "Cms Ib", "Cms Ib, formerly", "congenital myasthenic syndrome type IB", "congenital myasthenic syndrome type IB, formerly", "muscular dystrophy, congenital, merosin-POSITIVE", "myasthenia, limb-girdle, familial", "myasthenia, limb-girdle, familial, formerly", "myasthenic myopathy", "myasthenic myopathy, formerly", "myasthenic syndrome, congenital, 10" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene." }, "child_count": 0, "reference_id": "MONDO:0009690" }, { "id": 12366, "label": "megaconial type congenital muscular dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 18270, 19667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110632", "GARD:0010317", "MEDGEN:355943", "MESH:C566527", "OMIM:602541", "Orphanet:280671", "UMLS:C1865233" ], "synonyms": [ "congenital megaconial myopathy", "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect", "congenital muscular dystrophy with mitochondrial structural abnormalities", "megaconial congenital muscular dystrophy", "megaconial type congenital muscular dystrophy", "MDCMC", "megaconial congénital muscular dystrophy", "muscular dystrophy, congenital, megaconial type", "muscular dystrophy, congenital, with mitochondrial structural abnormalities" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0011246" }, { "id": 12588, "label": "congenital muscular dystrophy 1B", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110634", "GARD:0012586", "MEDGEN:346746", "MESH:C565748", "OMIM:604801", "Orphanet:98893", "SCTID:764944006", "UMLS:C1858118" ], "synonyms": [ "CMD1B", "MDC1B", "congenital muscular dystrophy type 1B", "muscular dystrophy, congenital, 1B" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation." }, "child_count": 0, "reference_id": "MONDO:0011486" }, { "id": 12999, "label": "congenital merosin-deficient muscular dystrophy 1A", "isLeaf": true, "isRoot": false, "parents": [ 19667, 23969 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110636", "GARD:0003843", "MEDGEN:224728", "NANDO:2200861", "NCIT:C118783", "OMIM:607855", "Orphanet:258", "SCTID:111503008", "UMLS:C1263858" ], "synonyms": [ "CMD1A", "LAMA2 congenital muscular dystrophy", "MDC1A", "congenital merosin-deficient muscular dystrophy type 1A", "congenital muscular dystrophy caused by mutation in LAMA2", "congenital muscular dystrophy due to laminin alpha2 deficiency", "merosin-deficient congenital muscular dystrophy type 1A", "merosin-negative congenital muscular dystrophy", "muscular dystrophy, congenital merosin-deficient, type 1A", "muscular dystrophy, congenital, merosin deficient or partially deficient", "LAMA2-related muscular dystrophy", "congenital muscular dystrophy type 1A", "laminin alpha-2 deficiency", "merosin-deficient congenital muscular dystrophy", "muscular dystrophy, congenital merosin-deficient", "muscular dystrophy, congenital merosin-deficient, 1A", "muscular dystrophy, congenital, due to partial LAMA2 deficiency", "muscular dystrophy, congenital, merosin-deficient" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting." }, "child_count": 0, "reference_id": "MONDO:0011925" }, { "id": 14213, "label": "congenital muscular dystrophy due to integrin alpha-7 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110639", "GARD:0012587", "MEDGEN:413044", "MESH:C567709", "OMIM:613204", "Orphanet:34520", "UMLS:C2750786" ], "synonyms": [ "ITGA7 congenital muscular dystrophy", "congenital muscular dystrophy caused by mutation in ITGA7", "congenital muscular dystrophy with ITGA7 deficiency", "congenital muscular dystrophy with integrin alpha-7 deficiency", "muscular dystrophy, congenital, due to ITGA7 deficiency", "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency", "myopathy, congenital, due to integrin Alpha-7 deficiency" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." }, "child_count": 0, "reference_id": "MONDO:0013177" }, { "id": 14214, "label": "congenital muscular dystrophy due to LMNA mutation", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110640", "GARD:0012585", "MEDGEN:413043", "MESH:C567708", "NANDO:2200866", "NCIT:C148369", "OMIM:613205", "Orphanet:157973", "UMLS:C2750785" ], "synonyms": [ "L-CMD", "LMNA congenital muscular dystrophy", "LMNA-related congenital muscular dystrophy", "congenital muscular dystrophy caused by mutation in LMNA", "muscular dystrophy Congenital, LMNA-related", "muscular dystrophy, congenital", "MDCL", "muscular dystrophy, congenital, LMNA-related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." }, "child_count": 0, "reference_id": "MONDO:0013178" }, { "id": 15877, "label": "congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017883", "MEDGEN:934703", "OMIM:617066", "Orphanet:486815", "UMLS:C4310736" ], "synonyms": [ "MDCDC", "congenital muscular dystrophy, Davignon-Chauveau type", "muscular dystrophy, congenital, Davignon-Chauveau type" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014896" }, { "id": 16685, "label": "congenital myopathy, Paradas type", "isLeaf": true, "isRoot": false, "parents": [ 16750, 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020335", "MEDGEN:1388555", "Orphanet:199329", "UMLS:C4511057" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development." }, "child_count": 0, "reference_id": "MONDO:0016049" }, { "id": 18102, "label": "autosomal recessive myogenic arthrogryposis multiplex congenita", "isLeaf": true, "isRoot": false, "parents": [ 16094, 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017447", "MEDGEN:1647450", "Orphanet:319332", "SCTID:764812008", "UMLS:C4707155" ], "synonyms": [ "SYNE1-related AMC", "SYNE1-related arthrogryposis multiplex congenita", "autosomal recessive myogenic AMC" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life." }, "child_count": 0, "reference_id": "MONDO:0017892" }, { "id": 18393, "label": "muscular dystrophy-dystroglycanopathy", "isLeaf": false, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112374", "GARD:0012584", "MEDGEN:1842215", "Orphanet:370953", "UMLS:C5679911" ], "synonyms": [ "CMD due to dystroglycanopathy", "muscular dystrophy-dystroglycanopathy", "congenital muscular dystrophy due to dystroglycanopathy" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 7, "reference_id": "MONDO:0018276" }, { "id": 18396, "label": "congenital muscular dystrophy with hyperlaxity", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021600", "MEDGEN:1633415", "Orphanet:371007", "SCTID:763314009", "UMLS:C4706389" ], "synonyms": [ "CMDH" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time." }, "child_count": 0, "reference_id": "MONDO:0018281" }, { "id": 18861, "label": "muscle-eye-brain disease", "isLeaf": false, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000156", "ICD9:742.4", "MEDGEN:105341", "Orphanet:588", "SCTID:277950001", "UMLS:C0457133" ], "synonyms": [ "MEB syndrome", "Santavuori congenital muscular dystrophy", "muscle-eye-brain syndrome", "muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3", "MEB", "muscle eye brain disease" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported." }, "child_count": 9, "reference_id": "MONDO:0018939" }, { "id": 19668, "label": "rigid spine syndrome", "isLeaf": false, "isRoot": false, "parents": [ 16774, 16783, 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004723", "MESH:C535683", "Orphanet:97244", "icd11.foundation:801727141" ], "synonyms": [ "rigid spine congenital muscular dystrophy", "desmin-related myopathies with Mallory bodies", "muscular dystrophy, congenital, merosin positive with early spine rigidity", "rigid spine muscular dystrophy-1" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency." }, "child_count": 3, "reference_id": "MONDO:0019951" }, { "id": 21522, "label": "congenital muscular dystrophy with cataracts and intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080197", "GARD:0025435", "MEDGEN:1382291", "OMIM:617404", "Orphanet:662184", "UMLS:C4479410" ], "synonyms": [ "MDCCAID", "muscular dystrophy, congenital, with cataracts and intellectual disability" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13." }, "child_count": 0, "reference_id": "MONDO:0024607" }, { "id": 24308, "label": "SNUPN-related muscular dystrophy with or without multi-system involvement", "isLeaf": false, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027279" ], "synonyms": [ "limb-girdle muscular dystrophy autosomal recessive 29" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A form of congenital muscular dystrophy in which the cause of the disease is pathogenic variation in the SNUPN gene. The phenotype is typically characterized by a variable degree of muscle weakness, elevated serum creatinine kinase, and myopathic signs in skeletal muscle. Extra-muscular features involving the ocular, skeletal, respiratory, and central nervous system may also be present." }, "child_count": 1, "reference_id": "MONDO:0100584" }, { "id": 24471, "label": "congenital muscular dystrophy caused by variation in POMGNT2", "isLeaf": false, "isRoot": false, "parents": [ 19667, 24465 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026347" ], "synonyms": [ "congenital muscular dystrophy caused by mutation in POMGNT2", "congenital muscular dystrophy-POMGNT2 related" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene." }, "child_count": 4, "reference_id": "MONDO:0700075" }, { "id": 25811, "label": "collagen 6-related congenital muscular dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026920", "MEDGEN:1864182", "Orphanet:646098", "UMLS:C5816703" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 1, "reference_id": "MONDO:0958077" }, { "id": 29263, "label": "congenital muscular dystrophy without intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 19667 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027117", "MEDGEN:1681503", "Orphanet:370980", "UMLS:C5190847" ], "synonyms": [ "CMD without intellectual disability", "CMD-no MR", "congenital muscular dystrophy-dystroglycanopathy without intellectual disability" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed." }, "child_count": 0, "reference_id": "MONDO:1040033" } ], "roots": [ { "id": 4427, "label": "congenital nervous system disorder" }, { "id": 19744, "label": "muscular dystrophy" } ] }