{ "id": 3724, "label": "spinal muscular atrophy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0001516", "properties": { "xrefs": [ "DOID:12377", "EFO:0008525", "GARD:0007674", "ICD9:335.1", "ICD9:335.10", "ICD9:335.19", "MEDGEN:7755", "MESH:D009134", "NANDO:1200003", "NANDO:2100231", "NANDO:2200853", "NCIT:C85075", "OMIMPS:253300", "SCTID:5262007", "UMLS:C0026847", "icd11.foundation:71074342" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A motor neuron disease that affect the muscles, and characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with spinal muscular atrophy (SMA) experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person." }, "isLeaf": false, "isRoot": false, "child_count": 19, "parents": [ { "id": 5143, "label": "anterior horn disorder", "isLeaf": false, "isRoot": false, "parents": [ 4611 ], "type_id": 0, "properties": { "xrefs": [ "DOID:4873", "ICD9:335", "MEDGEN:102314", "SCTID:85672005", "UMLS:C0154681" ], "synonyms": [ "disease of ventral horn of spinal cord", "disease or disorder of ventral horn of spinal cord", "disorder of ventral horn of spinal cord", "ventral horn of spinal cord disease", "ventral horn of spinal cord disease or disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." }, "child_count": 3, "reference_id": "MONDO:0003182" }, { "id": 21302, "label": "hereditary motor neuron disease", "isLeaf": false, "isRoot": false, "parents": [ 19749, 21292, 24271 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019478", "MEDGEN:78728", "Orphanet:98505", "SCTID:49793008", "UMLS:C0270763" ], "synonyms": [ "genetic anterior horn cell disease", "genetic motor neuron disease", "hereditary motor neuron disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An instance of motor neuron disease that is caused by an inherited modification of the individual's genome." }, "child_count": 27, "reference_id": "MONDO:0024257" } ], "children": [ { "id": 9368, "label": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3724, 7073, 24249 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111527", "GARD:0003875", "ICD9:345.10", "MEDGEN:371854", "MESH:C537563", "OMIM:159950", "Orphanet:2590", "SCTID:703524005", "UMLS:C1834569" ], "synonyms": [ "Jankovic-Rivera syndrome", "hereditary myoclonus-progressive distal muscular atrophy syndrome", "Jankovic Rivera syndrome", "SMAPME", "hereditary myoclonus and progressive distal muscular atrophy", "myoclonus hereditary progressive distal muscular atrophy", "myoclonus, hereditary, with progressive distal muscular atrophy", "spinal muscular atrophy with progressive myoclonic epilepsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus." }, "child_count": 0, "reference_id": "MONDO:0008045" }, { "id": 9705, "label": "scapuloperoneal spinal muscular atrophy, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 2903, 3724 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111552", "EFO:1001992", "GARD:0010314", "ICD9:335.19", "MEDGEN:148283", "OMIM:181405", "Orphanet:431255", "SCTID:230248006", "UMLS:C0751335" ], "synonyms": [ "SPSMA", "neurogenic scapuloperoneal amyotrophy, New England type", "scapuloperoneal neuronopathy", "scapuloperoneal spinal muscular atrophy", "amyotrophy, neurogenic scapuloperoneal, New England type" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008408" }, { "id": 9744, "label": "spinal muscular atrophy, facioscapulohumeral type", "isLeaf": true, "isRoot": false, "parents": [ 3724 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024622", "MEDGEN:357136", "MESH:C566674", "OMIM:182970", "UMLS:C1866783" ], "synonyms": [ "spinal muscular atrophy, facioscapulohumeral type", "Fshsma" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008452" }, { "id": 9745, "label": "adult-onset proximal spinal muscular atrophy, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 3724 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111194", "GARD:0017102", "MEDGEN:340120", "OMIM:182980", "Orphanet:209335", "UMLS:C1854058" ], "synonyms": [ "Finkel disease", "autosomal dominant adult-onset proximal SMA", "autosomal dominant late-onset spinal muscular atrophy, Finkel type", "Finkel late-adult type Sma", "SMAFK", "autosomal dominant adult-onset proximal spinal muscular atrophy", "spinal muscular atrophy, late-onset, FINKEL type", "spinal muscular atrophy, proximal, adult, autosomal dominant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008453" }, { "id": 9747, "label": "spinal muscular atrophy, segmental", "isLeaf": true, "isRoot": false, "parents": [ 3724 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024623", "MEDGEN:355801", "MESH:C566670", "OMIM:183020", "UMLS:C1866774" ], "synonyms": [ "spinal muscular atrophy, segmental" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0008455" }, { "id": 11248, "label": "spinal muscular atrophy, Ryukyuan type", "isLeaf": true, "isRoot": false, "parents": [ 3724 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009646", "MEDGEN:376517", "MESH:C536881", "OMIM:271200", "UMLS:C1849102" ], "synonyms": [ "spinal muscular atrophy, Ryukyuan type", "Ryukyuan muscular atrophy", "spinal muscular atrophy Ryukyuan type" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010057" }, { "id": 11249, "label": "scapuloperoneal spinal muscular atrophy, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 3724, 7611 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024703", "OMIM:271220" ], "synonyms": [ "spinal muscular atrophy, scapuloperoneal" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0010058" }, { "id": 11507, "label": "X-linked distal spinal muscular atrophy type 3", "isLeaf": true, "isRoot": false, "parents": [ 2902, 3724, 18822 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111196", "GARD:0016957", "MEDGEN:335168", "MESH:C564506", "OMIM:300489", "Orphanet:139557", "SCTID:766764008", "UMLS:C1845359" ], "synonyms": [ "ATP7A spinal muscular atrophy", "ATP7A-related distal motor neuropathy", "DSMAX", "SMAX3", "X-linked dHMN type 3", "X-linked dHMN3", "X-linked dSMA type 3", "X-linked dSMA3", "X-linked distal hereditary motor neuropathy type 3", "spinal muscular atrophy caused by mutation in ATP7A", "spinal muscular atrophy, distal, X-linked 3, X-linked recessive", "spinal muscular atrophy, distal, X-linked type 3", "Dsmax", "spinal muscular atrophy, distal, X-linked 3", "spinal muscular atrophy, distal, X-linked recessive" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." }, "child_count": 0, "reference_id": "MONDO:0010338" }, { "id": 11687, "label": "infantile-onset X-linked spinal muscular atrophy", "isLeaf": true, "isRoot": false, "parents": [ 3724, 4427, 16094 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111827", "GARD:0008521", "MEDGEN:337123", "MESH:C535380", "OMIM:301830", "Orphanet:1145", "SCTID:719836007", "UMLS:C1844934" ], "synonyms": [ "SMAX2", "X-linked distal arthrogryposis multiplex congenita", "X-linked spinal muscular atrophy type 2", "spinal muscular atrophy with arthrogryposis", "spinal muscular atrophy, X-linked 2, infantile, X-linked recessive", "spinal muscular atrophy, X-linked type 2", "AMC, distal, X-linked", "arthrogryposis multiplex congenita, distal, X-linked", "arthrogryposis, X-linked, type 1", "spinal muscular atrophy, X-linked 2", "spinal muscular atrophy, X-linked lethal infantile", "spinal muscular atrophy, infantile X-linked" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure." }, "child_count": 0, "reference_id": "MONDO:0010532" }, { "id": 12541, "label": "autosomal recessive distal spinal muscular atrophy 1", "isLeaf": true, "isRoot": false, "parents": [ 3724, 16222 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111064", "GARD:0008592", "ICD9:335.19", "MEDGEN:388083", "MESH:C536880", "NORD:1994", "OMIM:604320", "Orphanet:98920", "SCTID:711483003", "UMLS:C1858517" ], "synonyms": [ "DSMA1", "IGHMBP2 spinal muscular atrophy", "SIANRF", "SMARD1", "Spinal Muscular Atrophy with Respiratory Distress", "autosomal recessive distal spinal muscular atrophy 1", "autosomal recessive distal spinal muscular atrophy type 1", "autosomal recessive spinal muscular atrophy with respiratory distress", "dHMN6", "dSMA1", "diaphragmatic spinal muscular atrophy", "distal hereditary motor neuropathy type 6", "distal-HMN type 6", "severe infantile axonal neuropathy with respiratory failure type 1", "spinal muscular atrophy caused by mutation in IGHMBP2", "spinal muscular atrophy with respiratory distress type 1", "spinal muscular atrophy, distal, autosomal recessive, type 1", "HMN 6", "HMN VI", "Hmn6", "neuronopathy, Severe infantile axonal, with respiratory failure", "neuronopathy, distal hereditary motor, type 6", "neuronopathy, distal hereditary motor, type VI", "severe infantile axonal neuropathy with respiratory failure", "spinal muscular atrophy with respiratory distress 1", "spinal muscular atrophy, diaphragmatic", "spinal muscular atrophy, distal, autosomal recessive, 1" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features." }, "child_count": 0, "reference_id": "MONDO:0011436" }, { "id": 12681, "label": "autosomal recessive distal spinal muscular atrophy 2", "isLeaf": true, "isRoot": false, "parents": [ 3724, 16222 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111065", "GARD:0010133", "MEDGEN:344189", "MESH:C535715", "OMIM:605726", "Orphanet:139552", "SCTID:763533003", "UMLS:C1854023" ], "synonyms": [ "DSMA2", "autosomal recessive distal spinal muscular atrophy type 2", "dHMNJ", "spinal muscular atrophy, distal, autosomal recessive, type 2", "HMNJ", "MNDJ", "distal hereditary motor neuropathy, Jerash type", "hereditary motor neuropathy, Jerash type", "motor neuropathy, distal, Jerash type", "neuronopathy, distal hereditary motor, Jerash type", "neuropathy, distal hereditary motor, Jerash type", "spinal muscular atrophy, Jerash type", "spinal muscular atrophy, distal, autosomal recessive, 2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset)." }, "child_count": 0, "reference_id": "MONDO:0011585" }, { "id": 12855, "label": "neuronopathy, distal hereditary motor, autosomal recessive 3", "isLeaf": true, "isRoot": false, "parents": [ 3724, 16222 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111211", "GARD:0016956", "MEDGEN:337659", "MESH:C564626", "OMIM:607088", "Orphanet:139547", "UMLS:C1846823" ], "synonyms": [ "autosomal recessive distal spinal muscular atrophy type 3", "dHMN3 and dHMN4", "dSMA3", "distal hereditary motor neuropathy type 3 and type 4", "distal spinal muscular atrophy type 3", "spinal muscular atrophy, chronic distal, autosomal recessive", "HMN 3", "HMN 4", "dHMN3", "dHMN4", "neuronopathy, distal hereditary motor, type 3", "neuronopathy, distal hereditary motor, type 4", "neuropathy, distal hereditary motor, type 4", "spinal muscular atrophy, distal, autosomal recessive, 3" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction." }, "child_count": 0, "reference_id": "MONDO:0011771" }, { "id": 13655, "label": "neuronopathy, distal hereditary motor, autosomal recessive 4", "isLeaf": true, "isRoot": false, "parents": [ 3724, 16222 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111213", "GARD:0017101", "MEDGEN:369682", "MESH:C567023", "OMIM:611067", "Orphanet:206580", "UMLS:C1970211" ], "synonyms": [ "DSMA4", "autosomal recessive distal spinal muscular atrophy type 4", "autosomal recessive lower motor neuron disease with childhood onset", "dSMA4", "distal spinal muscular atrophy type 4", "neuronopathy, distal hereditary motor, autosomal recessive 4", "spinal muscular atrophy, distal, autosomal recessive, type 4", "spinal muscular atrophy, distal, autosomal recessive, 4" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported." }, "child_count": 0, "reference_id": "MONDO:0012608" }, { "id": 14958, "label": "neuronopathy, distal hereditary motor, autosomal recessive 5", "isLeaf": true, "isRoot": false, "parents": [ 3724, 16222 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111214", "GARD:0017421", "MEDGEN:1667915", "OMIM:614881", "Orphanet:314485", "UMLS:C4749918" ], "synonyms": [ "DSMA5", "Young adult-onset dHMN", "autosomal recessive distal spinal muscular atrophy type 5", "dSMA5", "spinal muscular atrophy, distal, autosomal recessive, type 5", "young adult-onset distal hereditary motor neuropathy", "spinal muscular atrophy, distal, autosomal recessive, 5" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared." }, "child_count": 0, "reference_id": "MONDO:0013947" }, { "id": 16221, "label": "neuronopathy, distal hereditary motor, autosomal dominant", "isLeaf": false, "isRoot": false, "parents": [ 2903, 3724, 18822 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111198", "GARD:0019926", "MEDGEN:1787720", "OMIMPS:182960", "Orphanet:140465", "UMLS:C5548212" ], "synonyms": [ "autosomal dominant dHMN", "autosomal dominant distal hereditary motor neuropathy", "autosomal dominant distal spinal muscular atrophy", "distal hereditary motor neuropathy, autosomal dominant" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal dominant form of distal hereditary motor neuropathy." }, "child_count": 33, "reference_id": "MONDO:0015362" }, { "id": 16736, "label": "bulbospinal muscular atrophy", "isLeaf": false, "isRoot": false, "parents": [ 3724 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0020365", "MEDGEN:95977", "NANDO:1200001", "Orphanet:206701", "SCTID:230253001", "UMLS:C0393547", "icd11.foundation:1604214898" ], "synonyms": [ "SBMA", "bulbospinal muscular atrophy", "spinal and bulbal muscular atrophy", "spinal-bulbar muscular atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 3, "reference_id": "MONDO:0016113" }, { "id": 18496, "label": "spinal muscular atrophy with respiratory distress type 2", "isLeaf": true, "isRoot": false, "parents": [ 3724 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021723", "MEDGEN:1658540", "Orphanet:404521", "UMLS:C4749434" ], "synonyms": [ "SMARD2", "X-linked spinal muscular atrophy with respiratory distress", "diaphragmatic spinal muscular atrophy type 2", "severe infantile axonal neuropathy with respiratory failure type 2" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene." }, "child_count": 0, "reference_id": "MONDO:0018450" }, { "id": 18971, "label": "proximal spinal muscular atrophy", "isLeaf": false, "isRoot": false, "parents": [ 3724, 19748 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004531", "MEDGEN:870510", "NANDO:2100231", "NORD:1729", "Orphanet:70", "UMLS:C4024957" ], "synonyms": [ "SMA", "Spinal Muscular Atrophy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." }, "child_count": 12, "reference_id": "MONDO:0019079" }, { "id": 25170, "label": "spinal muscular atrophy type 0", "isLeaf": true, "isRoot": false, "parents": [ 3724 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080667", "GARD:0026588", "MEDGEN:1843403", "UMLS:C4324643" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles." }, "child_count": 0, "reference_id": "MONDO:0850170" } ], "roots": [ { "id": 5143, "label": "anterior horn disorder" }, { "id": 21302, "label": "hereditary motor neuron disease" } ] }