Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal blood inorganic cation concentration (HP:0010927)

Parent Node:
Abnormal circulating calcium concentration (HP:0004363)

..Starting node
..obsolete Abnormal concentration of calcium in blood (HP:0040077)

Term ID:

40077

Name:

obsolete Abnormal concentration of calcium in blood

Synonym:

Definition:

Comments:

Reference:

HP:0040077

Genes and Diseases:

Child Nodes:

........

Hypocalcemia (HP:0002901)

................... HP:0002199 Hypocalcemic seizures
................... HP:0003472 Hypocalcemic tetany

........

Hypercalcemia (HP:0003072)

................... HP:0008250 Infantile hypercalcemia

Sister Nodes:

Abnormality of urine calcium concentration (HP:0011280)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040077	HP:0040077	obsolete Abnormal concentration of calcium in blood	0	CL E G H

Genes (0) :

Diseases (0) :

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