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late infantile neuronal ceroid lipofuscinosis

^ http://purl.obolibrary.org/obo/MONDO_0015674

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 ]

Term info

database cross reference
  • Orphanet:168491 (MONDO:equivalentTo)
  • SCTID:14637005 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
LINCL [ Orphanet:168491 ]

definition

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://identifiers.org/snomedct/14637005, http://purl.obolibrary.org/obo/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

has related synonym

amaurotic idiocy late infantile type, amaurotic idiocy early juvenile type, Bielschowsky-jansky type neuronal ceroid lipofuscinosis, dollinger-Bielschowsky syndrome, amaurotic idiocy, late infantile type, Bielschowsky-jansky disease, dollinger-Bielschowsky type neuronal ceroid lipofuscinosis, amaurotic idiocy, early juvenile type

id

MONDO:0015674