01
DNAJB2
DnaJ heat shock protein family (Hsp40) member B2
DnaJ heat shock protein family (Hsp40) member B2
Diseases
Charcot-Marie-Tooth Disease, Axonal, Type 2K
charcot-marie-tooth disease, axonal, type 2k
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Charcot-Marie-Tooth Disease, Axonal, Type 2K
- Standard Disease Name
- charcot-marie-tooth disease, axonal, type 2k
- MeSH Tree
- No data
- ICD-10
- Q25.1
Identifiers
- DO ID
- No data
- MeSH ID
- D001017
- OMIM ID
- MTHU008022|MTHU004003|MTHU009436|120000|MTHU009107
- UMLS ID
- C0003492
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.|MSH2017_2016_08_12:A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion.|HPO2016_07_04:Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. [HPO:probinson]|CSP2006:congenital constriction of the aorta just distal to the left subclavian artery; causes upper body hypertension but few other symptoms; may present as headache or dyspnea on exertion.