Noonan Syndrome-Like Disorder with Loose Anagen Hair

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

NCIt synonyms : NSLH;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the SHOC2 or PPP1CB genes, encoding leucine-rich repeat protein SHOC-2 and serine/threonine-protein phosphatase PP1-beta catalytic subunit, respectively. 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.;

Details

Origin ID

C178129;

UMLS CUI

C1843181;

Currated CISMeF NLP mapping
- Noonan syndrome like disorder with loose anagen hair [Disease (Nov.)]
- Noonan syndrome-like disorder with loose anagen hair [ORDO Disease]
- Noonan syndrome-like disorder with loose anagen hair [OMIM phenotypic series]
- Noonan syndrome-like disorder with loose anagen hair [DO Concept]
- Noonan syndrome-like disorder with loose anagen hair (disorder) [SNOMED CT concept]
- Noonan-Like syndrome with loose anagen hair [MeSH Supplementary Concept]
- Noonan-Like syndrome with loose anagen hair [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome like disorder with loose anagen hair [Disease (Nov.)]
- Noonan syndrome-like disorder with loose anagen hair (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Noonan syndrome-like disorder with loose anagen hair 1 [OMIM Phenotype]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
related_to_genetic_biomarker
- PPP1CB Gene [NCIt concept]
- SHOC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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