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
..Large iliac wing (HP:0008818)

Term ID:

8818

Name:

Large iliac wing

Synonym:

Large iliac wings

Definition:

Increased size of the ilium ala.

Comments:

Reference:

HP:0008818

Genes and Diseases:

Child Nodes:

Sister Nodes:

Constricted iliac wing (HP:0003277)

Dysplastic iliac wing (HP:0008794)

Flared iliac wing (HP:0002869)

High iliac wing (HP:0008808)

Hypoplastic iliac wing (HP:0002866)

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:0008818	HP:0008818	Large iliac wing	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent	34
HP:0008818	HP:0008818	Large iliac wing	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0008818	HP:0008818	Large iliac wing	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0008818	HP:0008818	Large iliac wing	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0008818	HP:0008818	Large iliac wing	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040281 - Very frequent	504

Genes (5) :AMER1 ATP7A B3GALT6 RNU4ATAC SMAD4

Diseases (5) :ORPHA:2780 ORPHA:198 OMIM:271640 ORPHA:2636 ORPHA:2588

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