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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003472HP:0003472Hypocalcemic tetany0FAM111A CL E G H6390193325ORPHA17924725615292
HP:0003472HP:0003472Hypocalcemic tetany0FAM111A CL E G H6390193325ORPHA16424725615292
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13714392139320
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13334392139320
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13714392139320
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13334392139320
HP:0003472HP:0003472Hypocalcemic tetany0TBCE CL E G H690593324ORPHA130111582604934
HP:0003472HP:0003472Hypocalcemic tetany0TBCE CL E G H690593324ORPHA126111582604934
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H277879444ORPHA03714392139320
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H277879444ORPHA03334392139320
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H277879443ORPHA03714392139320
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H277894089ORPHA03714392139320
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H277879443ORPHA03334392139320
HP:0003472HP:0003472Hypocalcemic tetany0GNAS CL E G H277894089ORPHA03334392139320
HP:0003472HP:0003472Hypocalcemic tetany0STX16 CL E G H867594089ORPHA018311431603666
HP:0003472HP:0003472Hypocalcemic tetany0STX16 CL E G H867594089ORPHA018211431603666


Genes (4) :FAM111A GNAS STX16 TBCE

Diseases (7) :93325 79444 94089 79443 103580 612462 93324
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.