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

gard_rare, ordo_etiological_subtype

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

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

CLN1

PPT1 neuronal ceroid lipofuscinosis

infantile neuronal ceroid lipofuscinosis

neuronal ceroid lipofuscinosis type 1

neuronal ceroid lipofuscinosis caused by mutation in PPT1

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

ceroid lipofuscinosis neuronal 1

CLN1 variable age at onset

juvenile CLN (type of CLN1)

ceroid lipofuscinosis, neuronal, 1, variable Age at onset

CLN1 disease

adult CLN (type of CLN1)

infantile CLN (type of CLN1)

id

MONDO:0009744

seeAlso

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