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 the cardiovascular system (HP:0001626)

Parent Node:
Abnormality of the neck (HP:0000464)

Parent Node:
Abnormality of the vasculature (HP:0002597)

..Starting node
..Abnormal neck blood vessel morphology (HP:3000037)

Term ID:

3000037

Name:

Abnormal neck blood vessel morphology

Synonym:

Abnormality of blood vessel of neck; Abnormality of neck blood vessel; Abnormality of the cervical blood vessels; Abnormality of the cervical vasculature; Abnormality of the vasculature of the neck

Definition:

An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.

Comments:

Reference:

HP:3000037

Genes and Diseases:

Child Nodes:

........

Abnormal jugular vein morphology (HP:3000042)

................... HP:0430024 Abnormality of external jugular vein
................... HP:3000063 Abnormality of internal jugular vein

........

Abnormal facial vein morphology (HP:3000043)

Sister Nodes:

Abnormal cerebral vascular morphology (HP:0100659)

Abnormal gastrointestinal vascular morphology (HP:0004296)

Abnormal head blood vessel morphology (HP:3000036)

Abnormal infraorbital artery morphology (HP:3000060)

Abnormal vascular morphology (HP:0025015)

Abnormal vascular physiology (HP:0030163)

Abnormality of the hepatic vasculature (HP:0006707)

Abnormality of the pulmonary vasculature (HP:0004930)

Abnormality of the vasculature of the eye (HP:0008047)

Vascular neoplasm (HP:0100742)

Vascular skin abnormality (HP:0011276)

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:3000037	HP:3000037	Abnormal neck blood vessel morphology	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	9
HP:3000037	HP:3000037	Abnormal neck blood vessel morphology	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	58
HP:3000037	HP:3000037	Abnormal neck blood vessel morphology	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	3
HP:3000037	HP:3000042	Abnormal jugular vein morphology	1	CL E G H
HP:3000037	HP:3000043	Abnormal facial vein morphology	1	CL E G H
HP:3000037	HP:0430024	Abnormality of external jugular vein	2	CL E G H
HP:3000037	HP:3000063	Abnormality of internal jugular vein	2	CL E G H

Genes (3) :FOXE1 HABP2 MINPP1

Diseases (1) :ORPHA:319487

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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