Human Phenotype Ontology 
Grandparent Node:
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obsolete Abnormal concentration of calcium in blood (HP:0040077)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Hypocalcemia (HP:0002901)help
..Starting node
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Hypocalcemic tetany (HP:0003472)help
Term ID: 3472
Name: Hypocalcemic tetany
Synonym:
Definition: Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.
Comments:
Reference: HP:0003472
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypocalcemic seizures (HP:0002199) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003472HP:0003472Hypocalcemic tetany0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040284 - Very rare178
HP:0003472HP:0003472Hypocalcemic tetany0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0003472HP:0003472Hypocalcemic tetany0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0003472HP:0003472Hypocalcemic tetany0TBCE CL E G H690511582ORPHA:93324Autosomal recessive Kenny-Caffey syndromeHP:0040282 - Frequent52


Genes (5) :CTNS FAM111A GNAS STX16 TBCE

Diseases (8) :ORPHA:411634 ORPHA:93325 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 ORPHA:93324
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.