glycogen storage disease IXd
glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material basis in mutation in the PHKA1 gene on chromosome Xq13
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glycogen storage disease IXd
Summary
glycogen storage disease IXd is a rare disease[1].
Key Facts
- glycogen storage disease IXd's instance of is recorded as rare disease[2].
- glycogen storage disease IXd's instance of is recorded as class of disease[3].
- glycogen storage disease IXd's subclass of is recorded as glycogen storage disease IX[4].
- glycogen storage disease IXd's subclass of is recorded as muscular glycogenosis[5].
- glycogen storage disease IXd's subclass of is recorded as X-linked recessive disease[6].
- glycogen storage disease IXd's MeSH descriptor ID is recorded as C564485[7].
- glycogen storage disease IXd's OMIM ID is recorded as 300559[8].
- glycogen storage disease IXd's Disease Ontology ID is recorded as DOID:0111040[9].
- glycogen storage disease IXd's Orphanet ID is recorded as 715[10].
- glycogen storage disease IXd's genetic association is recorded as PHKA1[11].
- glycogen storage disease IXd's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111040[12].
- glycogen storage disease IXd's exact match is recorded as http://identifiers.org/doid/DOID:0111040[13].
- glycogen storage disease IXd's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_715[14].
- glycogen storage disease IXd's UMLS CUI is recorded as C1845151[15].
- glycogen storage disease IXd's ICD-10-CM is recorded as E74.0[16].
- glycogen storage disease IXd's GARD rare disease ID is recorded as 3858[17].
- glycogen storage disease IXd's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- glycogen storage disease IXd's Mondo ID is recorded as MONDO_0010362[19].
- glycogen storage disease IXd's UniProt disease ID is recorded as DI-00531[20].