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ceroid lipofuscinosis, neuronal, 6B (Kufs type)

^ http://purl.obolibrary.org/obo/MONDO_0008768

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • Orphanet:228340 (OMIM:204300)
  • GARD:0006845 (MONDO:equivalentTo)
  • DOID:0110730 (MONDO:equivalentTo)
  • OMIM:204300 (Orphanet:228340/e)
Subsets

ordo_etiological_subtype

abbreviation
CLN4A [ OMIM:204300 DOID:0110730 MONDO:Lexical ]

definition

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0110730, http://purl.obolibrary.org/obo/Orphanet_228340, https://omim.org/entry/204300

has exact synonym

CLN4A, neuronal ceroid lipofuscinosis type 4A, neuronal ceroid lipofuscinosis caused by mutation in CLN6, neuronal ceroid lipofuscinosis 4A, CLN6 neuronal ceroid lipofuscinosis, autosomal recessive neuronal ceroid lipofuscinosis 4A

has related synonym

ceroid lipofuscinosis, neuronal, 4A, autosomal recessive, Kuf's disease type A, adult neuronal ceroid lipofuscinosis 4A, Kuf's disease, autosomal recessive, CLN4A disease

id

MONDO:0008768

Term relations