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:
Abnormal ilium morphology (HP:0002867)

Parent Node:
Abnormal iliac wing morphology (HP:0011867)

..Starting node
..High iliac wing (HP:0008808)

Term ID:

8808

Name:

High iliac wing

Synonym:

High iliac wings; Narrow, high iliac wings

Definition:

Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).

Comments:

Reference:

HP:0008808

Genes and Diseases:

Child Nodes:

Sister Nodes:

Constricted iliac wing (HP:0003277)

Dysplastic iliac wing (HP:0008794)

Flared iliac wing (HP:0002869)

Hypoplastic iliac wing (HP:0002866)

Large iliac wing (HP:0008818)

Narrow iliac wing (HP:0002868)

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:0008808	HP:0008808	High iliac wing	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent	34
HP:0008808	HP:0008808	High iliac wing	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0008808	HP:0008808	High iliac wing	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0008808	HP:0008808	High iliac wing	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2

Genes (3) :AMER1 PTH1R SEC23A

Diseases (4) :ORPHA:2780 ORPHA:79106 ORPHA:50814 OMIM:607812

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