Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandPrune Belly Syndrome (D011535)
Parent Node:
expandPulmonary Valve Stenosis (D011666)
..Starting node
..expandPrune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)

       Child Nodes:



 Sister Nodes: 
..expandCiuffo Syndrome (C566733)
..expandHordnes Engebretsen Knudtson syndrome (C536067)
..expandKeutel syndrome (C536167)
..expandLEOPARD Syndrome (D044542) Child2
..expandPrune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..expandPulmonary Subvalvular Stenosis (D011662)
..expandPulmonic Stenosis and Congenital Nephrosis (C562895)
..expandWATSON SYNDROME (OMIM:193520)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9393
Name:Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
Definition:
Alternative IDs:
ParentIDs:MESH:D006319|MESH:D008607|MESH:D011535|MESH:D011666
TreeNumbers:C09.218.458.341.887/C562894 |C10.597.606.643/C562894 |C10.597.751.418.341.887/C562894 |C14.280.484.716/C562894 |C14.280.955.750/C562894 |C16.131.077.745/C562894 |C23.888.592.604.646/C562894 |C23.888.592.763.393.341.887/C562894 |F03.550.600/C562894
Synonyms:
Slim Mappings:Cardiovascular disease|Congenital abnormality|Ear-nose-throat disease|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: C562894
MeSH: C562894
OMIM: 264140;

Genes:
Phenotypes
1 HP:0000126Hydronephrosis
2 HP:0000072Hydroureter
3 HP:0001249Intellectual disability
4 HP:0004392Prune belly
5 HP:0001642Pulmonic stenosis
6 HP:0000407Sensorineural hearing impairment
Disease Causing ClinVar Variants