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 the endocrine system (HP:0000818)

Parent Node:
Abnormality of brain morphology (HP:0012443)

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

..Starting node
..Abnormal pineal morphology (HP:0012681)

Term ID:

12681

Name:

Abnormal pineal morphology

Synonym:

Abnormality of pineal morphology

Definition:

A structural abnormality of the pineal gland.

Comments:

Reference:

HP:0012681

Genes and Diseases:

Child Nodes:

........

Pineal gland calcification (HP:0012682)

........

Pineal cyst (HP:0012683)

........

Abnormal pineal volume (HP:0012684)

................... HP:0012685 Decreased pineal volume
................... HP:0012686 Increased pineal volume

........

Agenesis of pineal gland (HP:0012687)

Sister Nodes:

Abnormality of pineal physiology (HP:0012688)

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:0012681	HP:0012681	Abnormal pineal morphology	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0012681	HP:0012681	Abnormal pineal morphology	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012681	HP:0012681	Abnormal pineal morphology	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0012681	HP:0012681	Abnormal pineal morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0012681	HP:0012681	Abnormal pineal morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0012681	HP:0012681	Abnormal pineal morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0012681	HP:0012681	Abnormal pineal morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0012681	HP:0012681	Abnormal pineal morphology	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0012681	HP:0012681	Abnormal pineal morphology	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0012681	HP:0012681	Abnormal pineal morphology	0	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11		5
HP:0012681	HP:0012681	Abnormal pineal morphology	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0012681	HP:0012682	Pineal gland calcification	1	CL E G H
HP:0012681	HP:0012683	Pineal cyst	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	2
HP:0012681	HP:0012683	Pineal cyst	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012681	HP:0012684	Abnormal pineal volume	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0012681	HP:0012683	Pineal cyst	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0012681	HP:0012683	Pineal cyst	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0012681	HP:0012683	Pineal cyst	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0012681	HP:0012683	Pineal cyst	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040284 - Very rare	65
HP:0012681	HP:0012683	Pineal cyst	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040284 - Very rare	4
HP:0012681	HP:0012683	Pineal cyst	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0012681	HP:0012687	Agenesis of pineal gland	1	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11	.	5
HP:0012681	HP:0012683	Pineal cyst	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0012681	HP:0012685	Decreased pineal volume	2	CL E G H
HP:0012681	HP:0012686	Increased pineal volume	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229

Genes (9) :BPTF GALNT2 INSR KANSL1 NONO PNPLA2 PSMD12 VAX1 WDR26

Diseases (10) :ORPHA:529962 OMIM:618885 ORPHA:769 ORPHA:363958 ORPHA:363965 OMIM:300967 ORPHA:98908 OMIM:617516 OMIM:614402 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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