pontocerebellar hypoplasia type 5

Summary

pontocerebellar hypoplasia type 5 is a developmental defect during embryogenesis^[1].

Key Facts

• pontocerebellar hypoplasia type 5's instance of is recorded as developmental defect during embryogenesis^[2].
• pontocerebellar hypoplasia type 5's instance of is recorded as rare disease^[3].
• pontocerebellar hypoplasia type 5's instance of is recorded as class of disease^[4].
• pontocerebellar hypoplasia type 5's subclass of is recorded as non-syndromic pontocerebellar hypoplasia^[5].
• pontocerebellar hypoplasia type 5's MeSH descriptor ID is recorded as C537745^[6].
• pontocerebellar hypoplasia type 5's OMIM ID is recorded as 610204^[7].
• pontocerebellar hypoplasia type 5's Disease Ontology ID is recorded as DOID:0060274^[8].
• pontocerebellar hypoplasia type 5's Orphanet ID is recorded as 166068^[9].
• pontocerebellar hypoplasia type 5's genetic association is recorded as TSEN54^[10].
• pontocerebellar hypoplasia type 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060274^[11].
• pontocerebellar hypoplasia type 5's exact match is recorded as http://identifiers.org/doid/DOID:0060274^[12].
• pontocerebellar hypoplasia type 5's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_166068^[13].
• pontocerebellar hypoplasia type 5's UMLS CUI is recorded as C1857762^[14].
• pontocerebellar hypoplasia type 5's ICD-10-CM is recorded as Q04.3^[15].
• pontocerebellar hypoplasia type 5's GARD rare disease ID is recorded as 10709^[16].
• pontocerebellar hypoplasia type 5's on focus list of Wikimedia project is recorded as WikiProject Medicine^[17].
• pontocerebellar hypoplasia type 5's Mondo ID is recorded as MONDO_0012438^[18].
• pontocerebellar hypoplasia type 5's UniProt disease ID is recorded as DI-04348^[19].