Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Preferred Label : Noonan Syndrome-Like Disorder with Loose Anagen Hair 2;

NCIt synonyms : NSLH2;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.;

NCI Metathesaurus CUI : CL761636;

Details

Origin ID

C176940;

UMLS CUI

C4479577;

Currated CISMeF NLP mapping
- Noonan syndrome-like disorder with loose anagen hair 2 [OMIM Phenotype]
- Noonan syndrome-like disorder with loose anagen hair 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome-like disorder with loose anagen hair 2 [OMIM Phenotype]
disease_mapped_to_gene
- PPP1CB Gene [NCIt concept]
related_to_genetic_biomarker
- PPP1CB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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