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late infantile neuronal ceroid lipofuscinosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0015674

Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. [ Orphanet:168491 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E75.4 (Orphanet:168491)
  • Orphanet:168491 (MONDO:equivalentTo)
  • SCTID:14637005 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
LINCL [ Orphanet:168491 ]

definition

Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0022340

http://identifiers.org/snomedct/14637005

http://www.orpha.net/ORDO/Orphanet_168491

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019261

has exact synonym

late infantile NCL

Jansky-Bielschowsky disease

LINCL

late infantile neuronal ceroid lipofuscinosis

late-infantile neuronal ceroid lipofuscinosis

has related synonym

amaurotic idiocy late infantile type

amaurotic idiocy early juvenile type

Bielschowsky-jansky type neuronal ceroid lipofuscinosis

dollinger-Bielschowsky syndrome

Bielschowsky-jansky disease

dollinger-Bielschowsky type neuronal ceroid lipofuscinosis

amaurotic idiocy, late infantile type

amaurotic idiocy, early juvenile type

id

MONDO:0015674