hereditary spastic paraplegia 5A
hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has material basis in mutation in the CYP7B1 gene on chromosome 8q12
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hereditary spastic paraplegia 5A
Summary
hereditary spastic paraplegia 5A is a rare disease[1].
Key Facts
- hereditary spastic paraplegia 5A's instance of is recorded as rare disease[2].
- hereditary spastic paraplegia 5A's instance of is recorded as class of disease[3].
- hereditary spastic paraplegia 5A's subclass of is recorded as hereditary spastic paraplegia[4].
- hereditary spastic paraplegia 5A's subclass of is recorded as pure or complex autosomal recessive spastic paraplegia[5].
- hereditary spastic paraplegia 5A's subclass of is recorded as autosomal recessive disease[6].
- hereditary spastic paraplegia 5A's MeSH descriptor ID is recorded as C536871[7].
- hereditary spastic paraplegia 5A's OMIM ID is recorded as 270800[8].
- hereditary spastic paraplegia 5A's Disease Ontology ID is recorded as DOID:0110810[9].
- hereditary spastic paraplegia 5A's Orphanet ID is recorded as 100986[10].
- hereditary spastic paraplegia 5A's NCI Thesaurus ID is recorded as C177250[11].
- hereditary spastic paraplegia 5A's health specialty is recorded as neurology[12].
- hereditary spastic paraplegia 5A's genetic association is recorded as CYP7B1[13].
- hereditary spastic paraplegia 5A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110810[14].
- hereditary spastic paraplegia 5A's exact match is recorded as http://identifiers.org/doid/DOID:0110810[15].
- hereditary spastic paraplegia 5A's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_100986[16].
- hereditary spastic paraplegia 5A's UMLS CUI is recorded as C2931356[17].
- hereditary spastic paraplegia 5A's UMLS CUI is recorded as C1849115[18].
- hereditary spastic paraplegia 5A's ICD-10-CM is recorded as G11.4[19].
- hereditary spastic paraplegia 5A's GARD rare disease ID is recorded as 4926[20].
- hereditary spastic paraplegia 5A's on focus list of Wikimedia project is recorded as WikiProject Medicine[21].
- hereditary spastic paraplegia 5A's Mondo ID is recorded as MONDO_0010047[22].
- hereditary spastic paraplegia 5A's UniProt disease ID is recorded as DI-01043[23].