Neurotropic Tyrosine Kinase Receptor Type 2 Deficiency

Preferred Label : Neurotropic Tyrosine Kinase Receptor Type 2 Deficiency;

NCIt synonyms : TKRB Deficiency; NTKR2 Deficiency;

NCIt related terms : TRKB Deficiency; Receptor Tyrosine Kinase B; Neurotrophic Tyrosine Kinase, Receptor Type 2 Deficiency;

NCIt definition : Deficiency or dysfunction of the type 2 receptor for neurotropic tyrosine kinase associated with loss-of-function mutation(s) in the NTKR2 gene.;

Alternative definition : NICHD: Presumed loss-of-function mutation(s) in the NTKR2 gene, resulting in deficiency or dysfunction of the type 2 receptor for the enzyme neurotropic tyrosine kinase.;

Details

Origin ID

C120406;

UMLS CUI

C4054356;

See also inter- (CISMeF)
- Neurotrophic tyrosine kinase, receptor, type 2 [OMIM gene]
Semantic type(s)
- Finding [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- NTRK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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