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
..Dysplastic iliac wing (HP:0008794)

Term ID:

8794

Name:

Dysplastic iliac wing

Synonym:

Dysplastic iliac wings

Definition:

A general term that describes a congenital defect in the iliac wing resulting from abnormal development.

Comments:

Reference:

HP:0008794

Genes and Diseases:

Child Nodes:

Sister Nodes:

Constricted iliac wing (HP:0003277)

Flared iliac wing (HP:0002869)

High iliac wing (HP:0008808)

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:0008794	HP:0008794	Dysplastic iliac wing	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32

Genes (1) :MATN3

Diseases (1) :OMIM:608728

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