congenital cataract-hearing loss-severe developmental delay syndrome
http://purl.obolibrary.org/obo/MONDO_0013772
Term info
database cross reference
- UMLS:C3280965 (OMIM:614482)
- OMIM:614482 (Orphanet:300313/e)
- Orphanet:300313 (OMIM:614482)
Subsets
ordo_disease
IAO 0000233
https://github.com/monarch-initiative/mondo/issues/4069
exactMatch
http://purl.obolibrary.org/obo/Orphanet_300313, https://omim.org/entry/614482, http://linkedlifedata.com/resource/umls/id/C3280965
has exact synonym
congenital cataract-deafness-severe developmental delay syndrome, lethal neurodegenerative disorder due to copper transport defect
has related synonym
congenital cataracts, hearing loss, and neurodegeneration, CCHLND
id
MONDO:0013772