Term ID: | 9910 |
Name: | Rowley-Rosenberg syndrome |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D000608|MESH:D006130|MESH:D006976 |
TreeNumbers: | C08.381.423/C535874 |C12.777.419.815.885/C535874 |C13.351.968.419.815.885/C535874 |C16.320.565.861.885/C535874 |C18.452.648.861.885/C535874 |C23.550.393/C535874 |
Synonyms: | Growth retardation, pulmonary hypertension, and aminoaciduria |Growth Retardation, Pulmonary Hypertension, and Amino Aciduria |
Slim Mappings: | Genetic disease (inborn)|Metabolic disease|Pathology (process)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male) |
Reference: |
MedGen: C535874
MeSH: C535874
OMIM: 268500;
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |