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CPAMD8-related anterior segment dysgenesis

Go to external page http://purl.obolibrary.org/obo/MONDO_0015017

Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: CPAMD8-related anterior segment dysgenesis ASGD8 anterior segment dysgenesis type 8 anterior segment dysgenesis caused by mutation in CPAMD8 anterior segment dysgenesis 8 CPAMD8 anterior segment dysgenesis

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0080613 (MONDO:equivalentTo)
  • UMLS:C4310622 (MONDO:ncbi_mim2gene_medline)
  • Orphanet:519388 (MONDO:equivalentTo)
  • OMIM:617319 (MONDO:equivalentTo)
  • GARD:17954 (Orphanet:519388)
Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C4310622

http://www.orpha.net/ORDO/Orphanet_519388

https://omim.org/entry/617319

http://purl.obolibrary.org/obo/DOID_0080613

id

MONDO:0015017

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0015017

Term relations