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:
expandAbnormalities, Multiple (D000015)
Parent Node:
expandCalcinosis (D002114)
Parent Node:
expandHypophosphatemia, Familial (D007015)
..Starting node
..expandHypophosphatemia, Renal, with Intracerebral Calcifications (C565478)

       Child Nodes:



 Sister Nodes: 
..expandFamilial Hypophosphatemic Rickets (D053098) Child9
..expandHypophosphatemia, Renal, with Intracerebral Calcifications (C565478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5605
Name:Hypophosphatemia, Renal, with Intracerebral Calcifications
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D002114|MESH:D007015
TreeNumbers:C12.777.419.815.647/C565478 |C13.351.968.419.815.647/C565478 |C16.131.077/C565478 |C16.320.565.618.544/C565478 |C16.320.565.861.647/C565478 |C18.452.174.130/C565478 |C18.452.648.618.544/C565478 |C18.452.648.861.647/C565478 |C18.452.750.400.500/C565478
Synonyms:
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C565478
MeSH: C565478
OMIM: 241519;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002514Cerebral calcification
3 HP:0008491Premature anterior fontanel closure
4 HP:0008732Renal hypophosphatemia
5 HP:0000117Renal phosphate wasting
6 HP:0009882Short distal phalanx of finger
Disease Causing ClinVar Variants