PGM3 deficiency

Summary

PGM3 deficiency is a rare disease^[1].

Key Facts

• PGM3 deficiency's instance of is recorded as rare disease^[2].
• PGM3 deficiency's instance of is recorded as class of disease^[3].
• PGM3 deficiency's subclass of is recorded as disorder of multiple glycosylation^[4].
• PGM3 deficiency's subclass of is recorded as syndromic neurometabolic disease with non-X-linked intellectual disability^[5].
• PGM3 deficiency's subclass of is recorded as combined immunodeficiency^[6].
• PGM3 deficiency's subclass of is recorded as autosomal recessive disease^[7].
• PGM3 deficiency's OMIM ID is recorded as 615816^[8].
• PGM3 deficiency's Disease Ontology ID is recorded as DOID:0111953^[9].
• PGM3 deficiency's Orphanet ID is recorded as 443811^[10].
• PGM3 deficiency's genetic association is recorded as PGM3^[11].
• PGM3 deficiency's Google Knowledge Graph ID is recorded as /g/11bwdt4yt6^[12].
• PGM3 deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_443811^[13].
• PGM3 deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111953^[14].
• PGM3 deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111953^[15].
• PGM3 deficiency's UMLS CUI is recorded as C4014371^[16].
• PGM3 deficiency's ICD-10-CM is recorded as E77.8^[17].
• PGM3 deficiency's Mondo ID is recorded as MONDO_0014353^[18].
• PGM3 deficiency's Microsoft Academic ID is recorded as 2776949128^[19].
• PGM3 deficiency's UniProt disease ID is recorded as DI-04117^[20].