Disease Browser
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Parent Node: Acidosis, Renal Tubular (D000141) | Parent Node: Facies (D019066) | Parent Node: Growth Disorders (D006130) | Parent Node: Mental Disorders (D001523) | Parent Node: Nephrocalcinosis (D009397) | ..Starting node ..Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
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Sister Nodes: | ..Amelogenesis imperfecta nephrocalcinosis (C538241)
| ..Hypomagnesemia primary (C537153)
| ..Kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules (C531755)
| ..Manz syndrome (C535709)
| ..Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
| ..SHORT syndrome (C537327)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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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 | |
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