Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 head (HP:0000234)

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

Parent Node:
Abnormal carotid artery morphology (HP:0005344)

Parent Node:
Abnormal head blood vessel morphology (HP:3000036)

..Starting node
..Abnormal internal carotid artery morphology (HP:3000062)

Term ID:

3000062

Name:

Abnormal internal carotid artery morphology

Synonym:

Abnormality of internal carotid artery

Definition:

An abnormality of an internal carotid artery.

Comments:

Reference:

HP:3000062

Genes and Diseases:

Child Nodes:

........

Internal carotid artery hypoplasia (HP:0005290)

........

Abnormality of ophthalmic artery (HP:0410006)

................... HP:3000031 Abnormality of anterior ethmoidal artery
................... HP:3000032 Abnormality of central retinal artery
................... HP:3000039 Abnormality of dorsal nasal artery

Sister Nodes:

Abnormal facial vein morphology (HP:3000043)

Abnormal inferior alveolar artery morphology (HP:3000054)

Abnormal lacrimal artery morphology (HP:3000065)

Abnormal lingual artery morphology (HP:3000074)

Abnormal retinal artery morphology (HP:0000630)

Prominent scalp veins (HP:0001043)

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:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:3000062	HP:3000062	Abnormal internal carotid artery morphology	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:3000062	HP:0410006	Abnormality of ophthalmic artery	1	CL E G H
HP:3000062	HP:0005290	Internal carotid artery hypoplasia	1	HOXA1 CL E G H	3198	5099	OMIM:601536	ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS		34
HP:3000062	HP:0005290	Internal carotid artery hypoplasia	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040284 - Very rare	165
HP:3000062	HP:3000039	Abnormality of dorsal nasal artery	2	CL E G H
HP:3000062	HP:3000032	Abnormality of central retinal artery	2	CL E G H
HP:3000062	HP:3000031	Abnormality of anterior ethmoidal artery	2	CL E G H
HP:3000062	HP:0025342	Central retinal artery occlusion	3	CL E G H

Genes (10) :ABCG5 ABCG8 APOB HOXA1 LDLR LDLRAP1 LMX1B NDE1 NF1 PCSK9

Diseases (5) :ORPHA:391665 OMIM:601536 ORPHA:2614 ORPHA:2177 ORPHA:97685

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen