BMPR1A Gene Mutation

Preferred Label : BMPR1A Gene Mutation;

NCIt synonyms : ACVRLK3 Gene Mutation; Bone Morphogenetic Protein Receptor Type 1A Gene Mutation; ALK3 Gene Mutation; SKR5 Gene Mutation;

NCIt definition : A molecular genetic abnormality that refers to the mutation of the BMPR1A (bone morphogenetic protein receptor, type 1A) gene on chromosome 10q22.3.;

Détails

Origin ID

C96522;

UMLS CUI

C3272843;

Molecular abnormality of diseases
- Juvenile Polyposis Syndrome [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
is_not_molecular_abnormality_of_disease
- Aggravated Neurofibromatosis [NCIt concept]
- Ataxia Telangiectasia Syndrome [NCIt concept]
- Neurofibromatosis [NCIt concept]
- Neurofibromatosis Type 1 [NCIt concept]
- Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas [NCIt concept]
- Neurofibromatosis Type 2 [NCIt concept]
- Phakomatosis [NCIt concept]
- Recurrent Neurofibromatosis Type 1 [NCIt concept]
- Refractory Neurofibromatosis Type 1 [NCIt concept]
- Sturge-Weber Syndrome [NCIt concept]
- Tuberous Sclerosis [NCIt concept]
- Tuberous Sclerosis 1 [NCIt concept]
- Tuberous Sclerosis 2 [NCIt concept]
- Von Hippel Lindau Syndrome [NCIt concept]
molecular_abnormality_involves_gene
- BMPR1A Gene [NCIt concept]

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