pontocerebellar hypoplasia type 2E

Summary

pontocerebellar hypoplasia type 2E is a rare disease^[1].

Key Facts

• pontocerebellar hypoplasia type 2E's instance of is recorded as rare disease^[2].
• pontocerebellar hypoplasia type 2E's instance of is recorded as class of disease^[3].
• pontocerebellar hypoplasia type 2E's subclass of is recorded as non-syndromic pontocerebellar hypoplasia^[4].
• pontocerebellar hypoplasia type 2E's OMIM ID is recorded as 615851^[5].
• pontocerebellar hypoplasia type 2E's Disease Ontology ID is recorded as DOID:0060271^[6].
• pontocerebellar hypoplasia type 2E's genetic association is recorded as VPS53^[7].
• pontocerebellar hypoplasia type 2E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060271^[8].
• pontocerebellar hypoplasia type 2E's exact match is recorded as http://identifiers.org/doid/DOID:0060271^[9].
• pontocerebellar hypoplasia type 2E's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_247198^[10].
• pontocerebellar hypoplasia type 2E's UMLS CUI is recorded as C4014488^[11].
• pontocerebellar hypoplasia type 2E's on focus list of Wikimedia project is recorded as WikiProject Medicine^[12].
• pontocerebellar hypoplasia type 2E's Mondo ID is recorded as MONDO_0014370^[13].
• pontocerebellar hypoplasia type 2E's UniProt disease ID is recorded as DI-04128^[14].