A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. [ NCIT:C85861 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0110721 (MONDO:equivalentTo)
  • Orphanet:228329 (OMIM:256730)
  • ICD10:E75.4 (Orphanet:228329)
  • NCIT:C85861 (MONDO:equivalentTo)
  • GARD:0001219 (MONDO:equivalentTo)
  • OMIM:256730 (Orphanet:228329)
Subsets

gard_rare, ordo_etiological_subtype

abbreviation
CLN1 [ https://omim.org/entry/256730 DOID:0110721 MONDO:Lexical ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C1850451

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.

exactMatch

http://identifiers.org/omim/256730

http://www.orpha.net/ORDO/Orphanet_228329

http://purl.obolibrary.org/obo/NCIT_C85861

http://purl.obolibrary.org/obo/DOID_0110721

has exact synonym

PPT1 neuronal ceroid lipofuscinosis

CLN1

infantile neuronal ceroid lipofuscinosis

neuronal ceroid lipofuscinosis caused by mutation in PPT1

neuronal ceroid lipofuscinosis type 1

ceroid lipofuscinosis, neuronal, type 1

neuronal ceroid lipofuscinosis 1 variable age of onset

has related synonym

Santavuori disease

Santavuori-Haltia disease

neuronal ceroid lipofuscinosis, infantile

classic late infantile CLN (type of CLN1)

ceroid lipofuscinosis, neuronal, 1

CLN1 variable age at onset

ceroid lipofuscinosis neuronal 1

ceroid lipofuscinosis, neuronal, 1, variable Age at onset

juvenile CLN (type of CLN1)

adult CLN (type of CLN1)

CLN1 disease

infantile CLN (type of CLN1)

id

MONDO:0009744

seeAlso

https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1