pontocerebellar hypoplasia type 4

Summary

pontocerebellar hypoplasia type 4 is a developmental defect during embryogenesis^[1].

Key Facts

• pontocerebellar hypoplasia type 4's instance of is recorded as developmental defect during embryogenesis^[2].
• pontocerebellar hypoplasia type 4's instance of is recorded as rare disease^[3].
• pontocerebellar hypoplasia type 4's instance of is recorded as class of disease^[4].
• pontocerebellar hypoplasia type 4's subclass of is recorded as non-syndromic pontocerebellar hypoplasia^[5].
• pontocerebellar hypoplasia type 4's MeSH descriptor ID is recorded as C536716^[6].
• pontocerebellar hypoplasia type 4's OMIM ID is recorded as 225753^[7].
• pontocerebellar hypoplasia type 4's Disease Ontology ID is recorded as DOID:0060273^[8].
• pontocerebellar hypoplasia type 4's Orphanet ID is recorded as 166063^[9].
• pontocerebellar hypoplasia type 4's genetic association is recorded as TSEN54^[10].
• pontocerebellar hypoplasia type 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060273^[11].
• pontocerebellar hypoplasia type 4's exact match is recorded as http://identifiers.org/doid/DOID:0060273^[12].
• pontocerebellar hypoplasia type 4's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_166063^[13].
• pontocerebellar hypoplasia type 4's UMLS CUI is recorded as C1856974^[14].
• pontocerebellar hypoplasia type 4's ICD-10-CM is recorded as Q04.3^[15].
• pontocerebellar hypoplasia type 4's GARD rare disease ID is recorded as 343^[16].
• pontocerebellar hypoplasia type 4's on focus list of Wikimedia project is recorded as WikiProject Medicine^[17].
• pontocerebellar hypoplasia type 4's Mondo ID is recorded as MONDO_0009166^[18].
• pontocerebellar hypoplasia type 4's UniProt disease ID is recorded as DI-02179^[19].