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:
expandAcidosis, Renal Tubular (D000141)
Parent Node:
expandFacies (D019066)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandMental Disorders (D001523)
Parent Node:
expandNephrocalcinosis (D009397)
..Starting node
..expandRenal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)

       Child Nodes:



 Sister Nodes: 
..expandAmelogenesis imperfecta nephrocalcinosis (C538241)
..expandHypomagnesemia primary (C537153)
..expandKidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules (C531755)
..expandManz syndrome (C535709)
..expandRenal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
..expandSHORT syndrome (C537327)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:9666
Name:Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Definition:
Alternative IDs:
ParentIDs:MESH:D000141|MESH:D001523|MESH:D006130|MESH:D009397|MESH:D019066
TreeNumbers:C12.777.419.590/C566918 |C12.777.419.815.093/C566918 |C13.351.968.419.590/C566918 |C13.351.968.419.815.093/C566918 |C16.320.565.861.093/C566918 |C18.452.076.176.210/C566918 |C18.452.174.130.560/C566918 |C18.452.648.861.093/C566918 |C23.550.291.812/C566918 |C23.55
Synonyms:
Slim Mappings:Genetic disease (inborn)|Mental disorder|Metabolic disease|Pathology (process)|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C566918
MeSH: C566918
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants