Acromesomelic Dysplasia, PRKG2 Type

Preferred Label : Acromesomelic Dysplasia, PRKG2 Type;

NCIt synonyms : AMDP;

NCIt definition : A genetic condition caused by mutation(s) in the PRKG2 gene, encoding cGMP-dependent protein kinase 2. It is characterized by acromelia and mesomelia.;

NCI Metathesaurus CUI : CL1661879;

Details

Origin ID

C179298;

UMLS CUI

C5552974;

False automatic mappings
- aminotris(methylenephosphonato)diamminoplatinum (II) [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PRKG2 Gene [NCIt concept]

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