prune belly syndrome
Information
- Disease name
- prune belly syndrome
- Disease ID
- DOID:0060889
- Description
- "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43." [url:https\://en.wikipedia.org/wiki/Prune_belly_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15912376, url:https\://www.ncbi.nlm.nih.gov/pubmed/22077972]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:7479
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q79.4
- Cross Reference ID (Disease Ontology)
- MESH:D011535
- Cross Reference ID (Disease Ontology)
- MIM:100100
- Cross Reference ID (Disease Ontology)
- ORDO:2970
- Exact Synonym (Disease Ontology)
- abdominal muscle deficiency syndrome
- Exact Synonym (Disease Ontology)
- Eagle-Barret syndrome
- Exact Synonym (Disease Ontology)
- Obrisnksy syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 2970
- ICD10 preferred id (Insert disease from ICD10)
- D0014084
- ICD10 class code (Insert disease from ICD10)
- Q79.4
- MeSH unique ID (MeSH (Medical Subject Headings))
- D011535