late infantile neuronal ceroid lipofuscinosis

Go to external page 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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:14637005 (MONDO:equivalentTo)
  • Orphanet:168491 (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://www.orpha.net/ORDO/Orphanet_168491
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0019261
has exact synonym
  • late-infantile neuronal ceroid lipofuscinosis
  • late infantile NCL
  • Jansky-Bielschowsky disease
  • LINCL
has related synonym
  • amaurotic idiocy late infantile type
  • Bielschowsky-jansky disease
  • amaurotic idiocy, late infantile type
  • dollinger-Bielschowsky type neuronal ceroid lipofuscinosis
  • dollinger-Bielschowsky syndrome
  • amaurotic idiocy early juvenile type
  • Bielschowsky-jansky type neuronal ceroid lipofuscinosis
  • amaurotic idiocy, early juvenile type
id
  • MONDO:0015674