Human Phenotype Ontology 
Grandparent Node:
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Seizure (HP:0001250)help
Parent Node:
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Hypocalcemia (HP:0002901)help
Parent Node:
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Symptomatic seizures (HP:0011145)help
..Starting node
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Hypocalcemic seizures (HP:0002199)help
Term ID: 2199
Name: Hypocalcemic seizures
Synonym: Low calcium seizures; Seizures due to hypocalcemia
Definition:
Comments:
Reference: HP:0002199
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoglycemic seizures (HP:0002173) 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:0002199HP:0002199Hypocalcemic seizures0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional41
HP:0002199HP:0002199Hypocalcemic seizures0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0002199HP:0002199Hypocalcemic seizures0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040283 - Occasional5
HP:0002199HP:0002199Hypocalcemic seizures0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0002199HP:0002199Hypocalcemic seizures0GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndromeHP:0040282 - Frequent83
HP:0002199HP:0002199Hypocalcemic seizures0GCM2 CL E G H92474198ORPHA:2239Familial isolated hypoparathyroidism due to agenesis of parathyroid glandHP:0040281 - Very frequent51
HP:0002199HP:0002199Hypocalcemic seizures0GCM2 CL E G H92474198OMIM:618883HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH251
HP:0002199HP:0002199Hypocalcemic seizures0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040284 - Very rare101
HP:0002199HP:0002199Hypocalcemic seizures0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040284 - Very rare101
HP:0002199HP:0002199Hypocalcemic seizures0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040284 - Very rare101
HP:0002199HP:0002199Hypocalcemic seizures0PTH CL E G H57419606OMIM:146200Hypoparathyroidism, familial isolated16
HP:0002199HP:0002199Hypocalcemic seizures0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040284 - Very rare86
HP:0002199HP:0002199Hypocalcemic seizures0TBCE CL E G H690511582ORPHA:93324Autosomal recessive Kenny-Caffey syndromeHP:0040281 - Very frequent52
HP:0002199HP:0002199Hypocalcemic seizures0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0002199HP:0002199Hypocalcemic seizures0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0002199HP:0002199Hypocalcemic seizures0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104


Genes (11) :CYP27B1 CYP2R1 FAM111A GATA3 GCM2 GNAS PTH STX16 TBCE TNFRSF11A VDR

Diseases (14) :ORPHA:289157 OMIM:264700 ORPHA:93325 ORPHA:2237 ORPHA:2239 OMIM:618883 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:146200 ORPHA:93324 OMIM:241410 OMIM:612301 OMIM:277440
 

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