{ "id": 16082, "label": "complex hereditary spastic paraplegia", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0015150", "properties": { "xrefs": [ "GARD:0019823", "MEDGEN:581446", "NANDO:1200054", "Orphanet:102013", "SCTID:230261006", "UMLS:C0393556" ], "synonyms": [ "Complex HSP", "Complex SPG", "Complex familial spastic paraplegia", "complicated HSP", "complicated SPG", "complicated familial spastic paraplegia", "complicated hereditary spastic paraplegia", "syndrome associated with hereditary spastic paraplegia", "syndromic hereditary spastic paraplegia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary spastic paraplegia that is part of a larger syndrome." }, "isLeaf": false, "isRoot": false, "child_count": 50, "parents": [ { "id": 4370, "label": "syndromic disease", "isLeaf": false, "isRoot": false, "parents": [ 29379 ], "type_id": 0, "properties": { "xrefs": [ "DOID:225", "MEDGEN:11688", "MESH:D013577", "NCIT:C28193", "OGMS:0000086", "UMLS:C0039082" ], "synonyms": [ "cluster, symptom", "clusters, symptom", "symptom cluster", "symptom clusters", "syndrome", "syndrome associated with disease or disorder", "syndromes", "syndromic disease", "syndromic disease or disorder" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" } ], "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition." }, "child_count": 1182, "reference_id": "MONDO:0002254" }, { "id": 18959, "label": "hereditary spastic paraplegia", "isLeaf": false, "isRoot": false, "parents": [ 5637, 21292, 24271 ], "type_id": 0, "properties": { "xrefs": [ "DOID:2476", "GARD:0006637", "ICD10CM:G11.4", "ICD9:334.1", "MEDGEN:20844", "MESH:D015419", "MedDRA:10019903", "NANDO:1200052", "NCIT:C140267", "NORD:1238", "OMIMPS:303350", "Orphanet:685", "SCTID:39912006", "UMLS:C0037773", "icd11.foundation:810807375" ], "synonyms": [ "spastic paraplegia", "HSP", "SPG", "Strümpell-Lorrain disease", "familial spastic paraplegia", "hereditary spastic paraparesis", "FSP", "familial spastic paraparesis" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs." }, "child_count": 135, "reference_id": "MONDO:0019064" } ], "children": [ { "id": 10959, "label": "hereditary sensory and autonomic neuropathy with spastic paraplegia", "isLeaf": true, "isRoot": false, "parents": [ 16082, 19748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061188", "GARD:0016959", "MEDGEN:342492", "MESH:C564948", "OMIM:256840", "Orphanet:139578", "SCTID:717827000", "UMLS:C1850395", "icd11.foundation:813709854" ], "synonyms": [ "HSAN with spastic paraplegia", "hereditary sensory and autonomic neuropathy with spastic paraplegia", "neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia." }, "child_count": 0, "reference_id": "MONDO:0009748" }, { "id": 11237, "label": "hereditary spastic paraplegia 15", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110768", "GARD:0009581", "MEDGEN:341387", "MESH:C536642", "OMIM:270700", "Orphanet:100996", "SCTID:709417000", "UMLS:C1849128" ], "synonyms": [ "Kjellin syndrome", "SPG15", "ZFYVE26 autosomal recessive complex spastic paraplegia", "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26", "autosomal recessive spastic paraplegia type 15", "hereditary spastic paraparesis type 15", "hereditary spastic paraplegia 15", "hereditary spastic paraplegia type 15", "spastic paraplegia and retinal degeneration", "spastic paraplegia-retinal degeneration syndrome", "recessive spastic paraplegia with retinal degeneration", "spastic paraplegia 15", "spastic paraplegia 15, autosomal recessive", "spastic paraplegia and retinal Degeneration" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." }, "child_count": 0, "reference_id": "MONDO:0010044" }, { "id": 11238, "label": "hereditary spastic paraplegia 23", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110774", "GARD:0000336", "MEDGEN:167094", "MESH:C536859", "OMIM:270750", "Orphanet:101003", "SCTID:726608002", "UMLS:C0796019" ], "synonyms": [ "DSTYK autosomal recessive complex spastic paraplegia", "Lison syndrome", "SPG23", "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK", "hereditary spastic paraplegia type 23", "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome", "spastic paraplegia 23", "spastic paraplegia with pigmentary abnormalities", "SPG 23", "autosomal recessive spastic paraplegia type 23", "spastic paraparesis, vitiligo, premature graying, characteristic facies", "spastic paraplegia and pigmentary abnormalities", "spastic paraplegia vitiligo premature graying and characteristic facies", "spastic paraplegia vitiligo premature greying and characteristic facies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." }, "child_count": 0, "reference_id": "MONDO:0010046" }, { "id": 11241, "label": "spastic paraplegia-glaucoma-intellectual disability syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004931", "MEDGEN:376520", "MESH:C564809", "OMIM:270850", "Orphanet:2818", "UMLS:C1849113" ], "synonyms": [ "spastic paresis glaucoma intellectual disability", "spastic paresis glaucoma mental retardation", "spastic paresis, glaucoma, and intellectual disability", "spastic paresis, glaucoma, and mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0010049" }, { "id": 11338, "label": "Troyer syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050886", "GARD:0005372", "ICD9:335.29", "MEDGEN:97950", "MESH:C536858", "OMIM:275900", "Orphanet:101000", "SCTID:230264003", "UMLS:C0393559" ], "synonyms": [ "SPG20", "Troyer syndrome", "autosomal recessive spastic paraplegia type 20", "childhood-onset spastic paraparesis-distal muscle wasting syndrome", "spastic paraplegia 20 (Troyer syndrome)", "Cross-McKusick syndrome", "spastic paraparesis, childhood-onset, with distal muscle wasting", "spastic paraplegia 20", "spastic paraplegia 20, autosomal recessive", "spastic paraplegia, autosomal recessive, Troyer type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin." }, "child_count": 0, "reference_id": "MONDO:0010156" }, { "id": 11713, "label": "MASA syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16082, 17500 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060246", "GARD:0006986", "MEDGEN:162894", "NCIT:C129930", "OMIM:303350", "Orphanet:2466", "SCTID:716996008", "UMLS:C0795953", "icd11.foundation:1973644723" ], "synonyms": [ "Gareis-Mason syndrome", "MASA syndrome", "intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome", "masa syndrome, X-linked recessive", "spastic paraplegia, X-linked", "CRASH syndrome", "CRASH syndrome, X-linked recessive", "Clasped thumb and intellectual disability", "Clasped thumb and mental retardation", "adducted thumb with intellectual disability", "adducted thumb with mental retardation", "intellectual disability aphasia shuffling Gait adducted thumbs (MASA)", "intellectual disability, aphasia, shuffling Gait, and adducted thumbs", "mental retardation aphasia shuffling Gait adducted thumbs (MASA)", "mental retardation, aphasia, shuffling Gait, and adducted thumbs", "spastic paraplegia 1", "spastic paraplegia 1, X-linked", "thumb congenital clasped with intellectual disability", "thumb congenital clasped with mental retardation", "thumb, congenital Clasped, with intellectual disability", "thumb, congenital Clasped, with mental retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles." }, "child_count": 0, "reference_id": "MONDO:0010559" }, { "id": 12550, "label": "hereditary spastic paraplegia 11", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110764", "GARD:0004919", "MEDGEN:388073", "NCIT:C148317", "OMIM:604360", "Orphanet:2822", "SCTID:715491000", "UMLS:C1858479" ], "synonyms": [ "HSP-TCC", "Nakamura-Osame syndrome", "SPG11", "SPG11 hereditary spastic paraplegia", "autosomal recessive spastic paraplegia type 11", "hereditary spastic paraplegia caused by mutation in SPG11", "hereditary spastic paraplegia type 11", "spastic paraplegia-intellectual disability-thin corpus callosum syndrome", "Nakamura Osame syndrome", "hereditary spastic paraplegia mental impairment and thin corpus callosum", "spastic paraplegia - intellectual deficit - thin corpus callosum", "spastic paraplegia 11", "spastic paraplegia 11, autosomal recessive", "spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum", "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene." }, "child_count": 0, "reference_id": "MONDO:0011445" }, { "id": 12942, "label": "hereditary spastic paraplegia 24", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110775", "GARD:0009296", "MEDGEN:334784", "MESH:C564375", "OMIM:607584", "Orphanet:101004", "UMLS:C1843569" ], "synonyms": [ "SPG24", "autosomal recessive spastic paraplegia type 24", "hereditary spastic paraplegia type 24", "spastic paraplegia 24", "spastic paraplegia 24, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14." }, "child_count": 0, "reference_id": "MONDO:0011862" }, { "id": 13063, "label": "hereditary spastic paraplegia 25", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110776", "GARD:0009582", "MEDGEN:424835", "MESH:C536861", "OMIM:608220", "Orphanet:101005", "SCTID:732933009", "UMLS:C2936860" ], "synonyms": [ "SPG25", "autosomal recessive spastic paraplegia type 25", "autosomal recessive spastic paraplegia-disc herniation syndrome", "hereditary spastic paraplegia type 25", "Disc herniation with spastic paraplegia, autosomal recessive", "spastic paraplegia 25", "spastic paraplegia 25, autosomal recessive", "spinal disc herniation with autosomal recessive spastic paraplegia", "spinal disk herniation with autosomal recessive spastic paraplegia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1." }, "child_count": 0, "reference_id": "MONDO:0011992" }, { "id": 13244, "label": "hereditary spastic paraplegia 27", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110778", "GARD:0016940", "MEDGEN:373203", "MESH:C563807", "OMIM:609041", "Orphanet:101007", "UMLS:C1836899" ], "synonyms": [ "SPG27", "autosomal recessive spastic paraplegia type 27", "hereditary spastic paraplegia type 27", "spastic paraplegia 27, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1." }, "child_count": 0, "reference_id": "MONDO:0012181" }, { "id": 13274, "label": "hereditary spastic paraplegia 26", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110777", "GARD:0009587", "MEDGEN:373138", "MESH:C536862", "OMIM:609195", "Orphanet:101006", "SCTID:726607007", "UMLS:C1836632" ], "synonyms": [ "GM2 synthase deficiency", "SPG26", "autosomal recessive spastic paraplegia type 26", "hereditary spastic paraplegia type 26", "spastic paraplegia 26", "spastic paraplegia 26, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1." }, "child_count": 0, "reference_id": "MONDO:0012213" }, { "id": 13353, "label": "spastic paraplegia, optic atropy, and neuropathy", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060491", "GARD:0017479", "MEDGEN:324411", "MESH:C563702", "OMIM:609541", "Orphanet:320406", "UMLS:C1836010" ], "synonyms": [ "SPOAN", "SPOAN syndrome", "spastic paraplegia-optic atrophy-neuropathy syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2." }, "child_count": 0, "reference_id": "MONDO:0012297" }, { "id": 13683, "label": "hereditary spastic paraplegia 18", "isLeaf": false, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110771", "GARD:0004922", "MEDGEN:442343", "MESH:C567628", "Orphanet:209951", "SCTID:732932004", "UMLS:C2749936" ], "synonyms": [ "ERLIN2 autosomal recessive complex spastic paraplegia", "SPG18", "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2", "autosomal recessive spastic paraplegia 18", "autosomal recessive spastic paraplegia type 18", "hereditary spastic paraplegia type 18", "intellectual disability, motor dysfunction and joint contractures", "intellectual disability, motor dysfunction, and Joint contractures", "spastic paraplegia 18", "spastic paraplegia 18, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2." }, "child_count": 2, "reference_id": "MONDO:0012639" }, { "id": 13687, "label": "hereditary spastic paraplegia 32", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110783", "GARD:0012749", "MEDGEN:409967", "MESH:C566983", "OMIM:611252", "Orphanet:171622", "SCTID:726606003", "UMLS:C1970009" ], "synonyms": [ "SPG32", "autosomal recessive spastic paraplegia type 32", "hereditary spastic paraplegia type 32", "spastic paraplegia 32", "spastic paraplegia 32, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21." }, "child_count": 0, "reference_id": "MONDO:0012643" }, { "id": 13692, "label": "spastic ataxia 2", "isLeaf": true, "isRoot": false, "parents": [ 16082, 18062 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050941", "GARD:0017644", "MEDGEN:370750", "MESH:C566969", "OMIM:611302", "Orphanet:397946", "UMLS:C1969796" ], "synonyms": [ "KIF1C spastic ataxia", "SPAX2", "SPG58", "autosomal recessive spastic ataxia type 2", "spastic ataxia 2", "spastic ataxia caused by mutation in KIF1C", "spastic ataxia type 2", "autosomal recessive spastic paraplegia type 58", "spastic ataxia 2, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs." }, "child_count": 0, "reference_id": "MONDO:0012651" }, { "id": 13827, "label": "hereditary spastic paraplegia 39", "isLeaf": false, "isRoot": false, "parents": [ 16082, 16607, 18270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110790", "GARD:0004924", "MEDGEN:383142", "MESH:C567433", "OMIM:612020", "Orphanet:139480", "SCTID:719103009", "UMLS:C2677586" ], "synonyms": [ "NTE-related motor neuron disorder", "NTEMND", "PNPLA6 hereditary spastic paraplegia", "SPG39", "autosomal recessive spastic paraplegia type 39", "hereditary spastic paraplegia caused by mutation in PNPLA6", "hereditary spastic paraplegia type 39", "spastic paraplegia due to NTE mutation", "spastic paraplegia due to neuropathy target esterase mutation", "NTE related motor neuron disorder", "spastic paraplegia 39", "spastic paraplegia 39, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting." }, "child_count": 3, "reference_id": "MONDO:0012787" }, { "id": 14201, "label": "hereditary spastic paraplegia 45", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110797", "GARD:0017477", "MEDGEN:854816", "OMIM:613162", "Orphanet:320396", "SCTID:765753004", "UMLS:C3888209" ], "synonyms": [ "NT5C2 autosomal recessive complex spastic paraplegia", "SPG45", "SPG65", "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2", "autosomal recessive spastic paraplegia type 45", "autosomal recessive spastic paraplegia type 65", "hereditary spastic paraplegia type 45", "spastic paraplegia 45, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported." }, "child_count": 0, "reference_id": "MONDO:0013165" }, { "id": 14215, "label": "hereditary spastic paraplegia 44", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110796", "GARD:0017478", "MEDGEN:413042", "MESH:C567707", "OMIM:613206", "Orphanet:320401", "SCTID:723821002", "UMLS:C2750784" ], "synonyms": [ "GJC2 autosomal recessive complex spastic paraplegia", "SPG44", "autosomal recessive complex spastic paraplegia caused by mutation in GJC2", "hereditary spastic paraplegia type 44", "autosomal recessive spastic paraplegia type 44", "spastic paraplegia 44, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein." }, "child_count": 0, "reference_id": "MONDO:0013179" }, { "id": 14756, "label": "hereditary spastic paraplegia 46", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110798", "GARD:0017476", "MEDGEN:473687", "OMIM:614409", "Orphanet:320391", "SCTID:723822009", "UMLS:C2828721" ], "synonyms": [ "GBA2 autosomal recessive complex spastic paraplegia", "SPG46", "autosomal recessive complex spastic paraplegia caused by mutation in GBA2", "autosomal recessive spastic paraplegia type 46", "hereditary spastic paraplegia 46", "hereditary spastic paraplegia type 46", "spastic paraplegia 46, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase." }, "child_count": 0, "reference_id": "MONDO:0013737" }, { "id": 14972, "label": "hereditary spastic paraplegia 53", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110805", "GARD:0017445", "MEDGEN:761340", "OMIM:614898", "Orphanet:319199", "SCTID:723823004", "UMLS:C3539494" ], "synonyms": [ "SPG53", "VPS37A autosomal recessive complex spastic paraplegia", "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A", "autosomal recessive spastic paraplegia type 53", "hereditary spastic paraplegia 53", "hereditary spastic paraplegia type 53", "spastic paraplegia 53, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A." }, "child_count": 0, "reference_id": "MONDO:0013962" }, { "id": 15026, "label": "hereditary spastic paraplegia 49", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110801", "GARD:0013568", "MEDGEN:762260", "OMIM:615031", "Orphanet:320385", "UMLS:C3542549" ], "synonyms": [ "SPG49", "TECPR2 hereditary spastic paraplegia", "autosomal recessive spastic paraplegia type 49", "hereditary spastic paraplegia 49", "hereditary spastic paraplegia caused by mutation in TECPR2", "hereditary spastic paraplegia type 49", "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay", "spastic paraplegia 49, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene." }, "child_count": 0, "reference_id": "MONDO:0014016" }, { "id": 15028, "label": "hereditary spastic paraplegia 54", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110806", "GARD:0017475", "MEDGEN:761341", "OMIM:615033", "Orphanet:320380", "SCTID:723824005", "UMLS:C3539495" ], "synonyms": [ "DDHD2 autosomal recessive complex spastic paraplegia", "SPG54", "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2", "autosomal recessive spastic paraplegia type 54", "hereditary spastic paraplegia type 54", "spastic paraplegia 54, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2." }, "child_count": 0, "reference_id": "MONDO:0014018" }, { "id": 15030, "label": "hereditary spastic paraplegia 55", "isLeaf": true, "isRoot": false, "parents": [ 16082, 16918 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110807", "GARD:0017474", "MEDGEN:761342", "OMIM:615035", "Orphanet:320375", "SCTID:723825006", "UMLS:C3539506" ], "synonyms": [ "SPG55", "autosomal recessive spastic paraplegia type 55", "hereditary spastic paraplegia type 55", "spastic paraplegia 55, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014020" }, { "id": 15034, "label": "hereditary spastic paraplegia 43", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110795", "GARD:0017473", "MEDGEN:760531", "OMIM:615043", "Orphanet:320370", "SCTID:764736001", "UMLS:C2680446" ], "synonyms": [ "C19orf12 autosomal recessive complex spastic paraplegia", "SPG43", "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12", "autosomal recessive spastic paraplegia type 43", "hereditary spastic paraplegia type 43", "spastic paraplegia 43, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." }, "child_count": 0, "reference_id": "MONDO:0014024" }, { "id": 15299, "label": "hereditary spastic paraplegia 57", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110809", "GARD:0017712", "MEDGEN:811490", "OMIM:615658", "Orphanet:431329", "SCTID:723826007", "UMLS:C3714897" ], "synonyms": [ "SPG57", "TFG hereditary spastic paraplegia", "autosomal recessive spastic paraplegia type 57", "hereditary spastic paraplegia caused by mutation in TFG", "hereditary spastic paraplegia type 57", "spastic paraplegia due to partial TFG deficiency", "spastic paraplegia 57, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function." }, "child_count": 0, "reference_id": "MONDO:0014295" }, { "id": 15307, "label": "hereditary spastic paraplegia 64", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110815", "GARD:0017659", "MEDGEN:816619", "OMIM:615683", "Orphanet:401810", "SCTID:726609005", "UMLS:C3810289" ], "synonyms": [ "ENTPD1 autosomal recessive complex spastic paraplegia", "SPG64", "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1", "autosomal recessive spastic paraplegia type 64", "hereditary spastic paraplegia type 64", "spastic paraplegia 64, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." }, "child_count": 0, "reference_id": "MONDO:0014303" }, { "id": 15308, "label": "hereditary spastic paraplegia 61", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110812", "GARD:0017656", "MEDGEN:816624", "OMIM:615685", "Orphanet:401780", "SCTID:726611001", "UMLS:C3810294" ], "synonyms": [ "ARL6IP1 autosomal recessive complex spastic paraplegia", "SPG61", "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1", "autosomal recessive spastic paraplegia type 61", "hereditary spastic paraplegia 61", "hereditary spastic paraplegia type 61", "spastic paraplegia 61, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." }, "child_count": 0, "reference_id": "MONDO:0014304" }, { "id": 15309, "label": "hereditary spastic paraplegia 63", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110814", "GARD:0017658", "MEDGEN:816625", "OMIM:615686", "Orphanet:401805", "SCTID:726610000", "UMLS:C3810295" ], "synonyms": [ "AMPD2 autosomal recessive complex spastic paraplegia", "SPG63", "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2", "hereditary spastic paraplegia type 63", "autosomal recessive spastic paraplegia type 63", "spastic paraplegia 63, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2." }, "child_count": 0, "reference_id": "MONDO:0014305" }, { "id": 15565, "label": "glutamate pyruvate transaminase 2 deficiency", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070542", "GARD:0017853", "MEDGEN:906606", "NORD:91168", "OMIM:616281", "Orphanet:477673", "UMLS:C4225388" ], "synonyms": [ "GPT2 Deficiency", "GPT2 deficiency", "glutamate pyruvate transaminase 2 deficiency", "mental retardation, autosomal recessive 49", "mental retardation, autosomal recessive type 49", "neurodevelopmental disorder with microcephaly and spastic paraplegia", "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0014567" }, { "id": 15640, "label": "hereditary spastic paraplegia 74", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110819", "GARD:0017842", "MEDGEN:1800260", "OMIM:616451", "Orphanet:468661", "UMLS:C5568837" ], "synonyms": [ "IBA57 hereditary spastic paraplegia", "SPG74", "hereditary spastic paraplegia caused by mutation in IBA57", "hereditary spastic paraplegia type 74", "autosomal recessive spastic paraplegia type 74", "spastic paraplegia 74, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported." }, "child_count": 0, "reference_id": "MONDO:0014644" }, { "id": 15696, "label": "autosomal recessive complex spastic paraplegia type 9B", "isLeaf": true, "isRoot": false, "parents": [ 16082, 23875 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110825", "GARD:0017770", "MEDGEN:1800403", "OMIM:616586", "Orphanet:447760", "UMLS:C5568980" ], "synonyms": [ "ALDH18A1 autosomal recessive complex spastic paraplegia", "AR-SPG9B", "SPG9B", "autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1", "hereditary spastic paraplegia type 9B", "hereditary spastic paraplegia 9B", "spastic paraplegia 9B, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." }, "child_count": 0, "reference_id": "MONDO:0014702" }, { "id": 15721, "label": "hereditary spastic paraplegia 75", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110820", "GARD:0017813", "MEDGEN:896387", "OMIM:616680", "Orphanet:459056", "UMLS:C4225250" ], "synonyms": [ "MAG hereditary spastic paraplegia", "SPG75", "autosomal recessive spastic paraplegia type 75", "hereditary spastic paraplegia caused by mutation in MAG", "hereditary spastic paraplegia type 75", "spastic paraplegia 75, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene." }, "child_count": 0, "reference_id": "MONDO:0014729" }, { "id": 15753, "label": "spastic paraplegia-severe developmental delay-epilepsy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4427, 16082, 16087, 16437 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017816", "MEDGEN:897828", "OMIM:616756", "Orphanet:464282", "UMLS:C4225215" ], "synonyms": [ "SPPRS syndrome", "spastic paraplegia-psychomotor retardation-seizures syndrome", "SPPRS", "spastic paraplegia and psychomotor retardation with or without seizures" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement." }, "child_count": 0, "reference_id": "MONDO:0014764" }, { "id": 15812, "label": "autosomal recessive spastic paraplegia type 76", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110821", "GARD:0017892", "MEDGEN:1798906", "OMIM:616907", "Orphanet:488594", "UMLS:C5567483" ], "synonyms": [ "CAPN1 autosomal recessive complex spastic paraplegia", "SPG76", "autosomal recessive complex spastic paraplegia caused by mutation in CAPN1", "hereditary spastic paraplegia type 76", "spastic paraplegia 76, autosomal recessive", "hereditary spastic paraplegia 76" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration." }, "child_count": 0, "reference_id": "MONDO:0014827" }, { "id": 15953, "label": "autosomal recessive spastic paraplegia type 78", "isLeaf": true, "isRoot": false, "parents": [ 7611, 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112348", "GARD:0017952", "MEDGEN:1799316", "OMIM:617225", "Orphanet:513436", "UMLS:C5567893" ], "synonyms": [ "ATP13A2 hereditary spastic paraplegia", "SPG78", "hereditary spastic paraplegia caused by mutation in ATP13A2", "spastic paraplegia 78, autosomal recessive", "spastic paraplegia 78, autosomal recessive; SPG78" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene." }, "child_count": 0, "reference_id": "MONDO:0014975" }, { "id": 16056, "label": "autosomal dominant complex spastic paraplegia", "isLeaf": false, "isRoot": false, "parents": [ 2903, 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0019770", "MEDGEN:1842369", "Orphanet:100979", "UMLS:C5680379" ], "synonyms": [ "autosomal dominant complex HSP", "autosomal dominant complex SPG", "autosomal dominant complex hereditary spastic paraplegia", "autosomal dominant complicated HSP", "autosomal dominant complicated SPG", "autosomal dominant complicated spastic paraplegia", "complex hereditary spastic paraplegia, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal dominant form of complex hereditary spastic paraplegia." }, "child_count": 26, "reference_id": "MONDO:0015087" }, { "id": 18118, "label": "maternally-inherited spastic paraplegia", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021433", "MEDGEN:1663227", "Orphanet:320360", "UMLS:C4755299" ], "synonyms": [ "MT-ATP6-related mitochondrial spastic paraplegia", "maternally-inherited SPG" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination." }, "child_count": 0, "reference_id": "MONDO:0017917" }, { "id": 18174, "label": "fatty acid hydroxylase-associated neurodegeneration", "isLeaf": true, "isRoot": false, "parents": [ 16082, 16607, 18270, 18404 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010810", "MEDGEN:777150", "MESH:C580102", "NANDO:1200541", "Orphanet:329308", "UMLS:C3668943" ], "synonyms": [ "FAHN" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus." }, "child_count": 0, "reference_id": "MONDO:0017999" }, { "id": 18465, "label": "autosomal recessive spastic paraplegia type 59", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021695", "MEDGEN:1669596", "Orphanet:401795", "UMLS:C4750857" ], "synonyms": [ "SPG59" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018416" }, { "id": 18466, "label": "autosomal recessive spastic paraplegia type 60", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021696", "MEDGEN:1683240", "Orphanet:401800", "UMLS:C5190589" ], "synonyms": [ "SPG60" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018417" }, { "id": 18467, "label": "autosomal recessive spastic paraplegia type 66", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021697", "MEDGEN:1675102", "Orphanet:401815", "UMLS:C5190590" ], "synonyms": [ "SPG66" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018418" }, { "id": 18468, "label": "autosomal recessive spastic paraplegia type 67", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021698", "MEDGEN:1644708", "Orphanet:401820", "SCTID:766767001", "UMLS:C4707829" ], "synonyms": [ "SPG67" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities." }, "child_count": 0, "reference_id": "MONDO:0018419" }, { "id": 18469, "label": "autosomal recessive spastic paraplegia type 68", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025129", "Orphanet:401825" ], "synonyms": [ "SPG68" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018420" }, { "id": 18470, "label": "autosomal recessive spastic paraplegia type 69", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021699", "MEDGEN:1679277", "Orphanet:401830", "UMLS:C5190577" ], "synonyms": [ "SPG69" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0018421" }, { "id": 18471, "label": "autosomal recessive spastic paraplegia type 70", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070454", "GARD:0021700", "MEDGEN:1655287", "OMIM:620323", "Orphanet:401835", "UMLS:C4749431" ], "synonyms": [ "SPG70", "autosomal recessive spastic paraplegia type 70", "spastic paraplegia 70, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities." }, "child_count": 0, "reference_id": "MONDO:0018422" }, { "id": 21939, "label": "spastic paraplegia 84, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 16082, 29244 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112347", "GARD:0025577", "MEDGEN:1794235", "OMIM:619621", "Orphanet:631079", "UMLS:C5562025" ], "synonyms": [ "SPG84", "autosomal recessive spastic paraplegia type 84" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030482" }, { "id": 21957, "label": "spastic paraplegia 85, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112345", "GARD:0025586", "MEDGEN:1794263", "OMIM:619686", "Orphanet:631082", "UMLS:C5562053" ], "synonyms": [ "SPG85", "autosomal recessive spastic paraplegia type 85" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030512" }, { "id": 21992, "label": "spastic paraplegia 86, autosomal recessive", "isLeaf": true, "isRoot": false, "parents": [ 16082 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112342", "GARD:0025605", "MEDGEN:1801286", "OMIM:619735", "Orphanet:631085", "UMLS:C5676910" ], "synonyms": [ "SPG86", "autosomal recessive spastic paraplegia type 86", "spastic paraplegia 86, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0030673" }, { "id": 23379, "label": "kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16082, 26613 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0022012", "MEDGEN:1798875", "Orphanet:496689", "UMLS:C5567452" ], "synonyms": [ "kyphoscoliosis-lateral tongue atrophy-HSP syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044648" }, { "id": 23413, "label": "autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction", "isLeaf": true, "isRoot": false, "parents": [ 16082, 16607, 18270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112349", "GARD:0017946", "MEDGEN:1799999", "Orphanet:506353", "UMLS:C5568576" ], "synonyms": [ "autosomal recessive complex SPG due to Kennedy pathway dysfunction" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" } ] }, "child_count": 0, "reference_id": "MONDO:0044737" } ], "roots": [ { "id": 4370, "label": "syndromic disease" }, { "id": 18959, "label": "hereditary spastic paraplegia" } ] }