Hypomyelinating Leukodystrophy-22

Preferred Label : Hypomyelinating Leukodystrophy-22;

NCIt synonyms : HLD22;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CLDN11 gene, encoding claudin-11. It is characterized by global developmental delay, mild impaired intellectual development, limited ability to walk, and hypomyelinating leukodystrophy on MRI.;

NCI Metathesaurus CUI : CL1767116;

Details

Origin ID

C201587;

UMLS CUI

C5543406;

Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leukodystrophy, hypomyelinating, 22 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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