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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
autosomal dominant hypocalcemia 1 +   
An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. (DO)
autosomal dominant hypocalcemia 2  
Dahlberg Borer Newcomer Syndrome 
familial isolated hypoparathyroidism +   
hereditary hypophosphatemic rickets with hypercalciuria  
Hypercalciuria, Absorptive, 1 
Hypercalciuria, Absorptive, 2  
Hypercalciuria, Childhood Idiopathic  
Hypoparathyroidism, Autosomal Recessive  
hypoparathyroidism-deafness-renal disease syndrome  
hypoparathyroidism-retardation-dysmorphism syndrome  
Kenny-Caffey syndrome type 2  
low molecular weight proteinuria with hypercalciuric nephrocalcinosis  
X-linked hypoparathyroidism 

Synonyms
Exact Synonyms: HYPOC1 ;   Hypercalciuric Hypocalcemia, Familial ;   familial hypocalcemia ;   hypercalciuric hypocalcemia ;   hypoparathyroidism, autosomal dominant
Xrefs: MESH:C562783 ;   MIM:601198 ;   MONDO:0011013
Definition Sources: https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO" "DO"

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