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:
Abnormality of brain morphology (HP:0012443)

Grandparent Node:
Abnormality of the pineal gland (HP:0012680)

Parent Node:
Abnormal pineal morphology (HP:0012681)

..Starting node
..Pineal gland calcification (HP:0012682)

Term ID:

12682

Name:

Pineal gland calcification

Synonym:

Definition:

Accumulation of calcium salts in the pineal gland.

Comments:

Reference:

HP:0012682

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pineal volume (HP:0012684)

Agenesis of pineal gland (HP:0012687)

Pineal cyst (HP:0012683)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012682	HP:0012682	Pineal gland calcification	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.