Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 cyst (HP:0012683)

Term ID:

12683

Name:

Pineal cyst

Synonym:

Definition:

A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.

Comments:

Reference:

HP:0012683

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal pineal volume (HP:0012684)

Agenesis of pineal gland (HP:0012687)

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:0012683	HP:0012683	Pineal cyst	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	2
HP:0012683	HP:0012683	Pineal cyst	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012683	HP:0012683	Pineal cyst	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0012683	HP:0012683	Pineal cyst	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0012683	HP:0012683	Pineal cyst	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0012683	HP:0012683	Pineal cyst	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040284 - Very rare	65
HP:0012683	HP:0012683	Pineal cyst	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	4
HP:0012683	HP:0012683	Pineal cyst	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0012683	HP:0012683	Pineal cyst	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8

Genes (7) :BPTF GALNT2 KANSL1 NONO PNPLA2 PSMD12 WDR26

Diseases (8) :ORPHA:529962 OMIM:618885 ORPHA:363958 ORPHA:363965 OMIM:300967 ORPHA:98908 OMIM:617516 ORPHA:513456

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

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