congenital neuronal ceroid lipofuscinosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0008956


Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. [ Orphanet:168486 ]

This is just here as a test because I lose it

Term information

database cross reference
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1864670

definition

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.

exactMatch

http://identifiers.org/snomedct/720830009

http://identifiers.org/omim/214200

http://www.orpha.net/ORDO/Orphanet_168486

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql

has exact synonym

congenital NCL

has related synonym

ceroid storage disease

lipofuscin storage disease

id

MONDO:0008956

Term relations