01
EIF2AK4
No data
Diseases
Pulmonary Arterial Hypertension
pulmonary arterial hypertension
- Entity Type
- Diseases
- Relation Groups
- 2
- Relation Preview
- 16
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Pulmonary Arterial Hypertension
- Standard Disease Name
- pulmonary arterial hypertension
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D024182
- OMIM ID
- MTHU009937
- UMLS ID
- C0949628
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome.|MSH2017_2016_08_12:The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).