Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandHypertension, Pulmonary (D006976)
Parent Node:
expandRenal Aminoacidurias (D000608)
..Starting node
..expandRowley-Rosenberg syndrome (C535874)

       Child Nodes:



 Sister Nodes: 
..expandCystinuria (D003555) Child3
..expandDicarboxylicaminoaciduria (C536171)
..expandFinnish lethal neonatal metabolic syndrome (C537934)
..expandHartnup Disease (D006250)
..expandHistidinuria renal tubular defect (C538321)
..expandRowley-Rosenberg syndrome (C535874)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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
1 HP:0000007Autosomal recessive inheritance
2 HP:0003011Abnormality of the musculature
3 HP:0003355Aminoaciduria
4 HP:0100750Atelectasis
5 HP:0001648Cor pulmonale
6 HP:0001510Growth delay
7 HP:0002092Pulmonary arterial hypertension
8 HP:0006532Recurrent pneumonia
9 HP:0003758Reduced subcutaneous adipose tissue
10 HP:0001667Right ventricular hypertrophy
Disease Causing ClinVar Variants