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
..Abnormal pineal volume (HP:0012684)

Term ID:

12684

Name:

Abnormal pineal volume

Synonym:

Definition:

An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.

Comments:

Reference:

HP:0012684

Genes and Diseases:

Child Nodes:

........

Decreased pineal volume (HP:0012685)

........

Increased pineal volume (HP:0012686)

Sister Nodes:

Agenesis of pineal gland (HP:0012687)

Pineal cyst (HP:0012683)

Pineal gland calcification (HP:0012682)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012684	HP:0012684	Abnormal pineal volume	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0012684	HP:0012685	Decreased pineal volume	1	CL E G H
HP:0012684	HP:0012686	Increased pineal volume	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229

Genes (1) :INSR

Diseases (1) :ORPHA:769

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