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
..Constricted iliac wing (HP:0003277)

Term ID:

3277

Name:

Constricted iliac wing

Synonym:

Constricted iliac wings

Definition:

Comments:

Reference:

HP:0003277

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysplastic iliac wing (HP:0008794)

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:0003277	HP:0003277	Constricted iliac wing	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.	123
HP:0003277	HP:0003277	Constricted iliac wing	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.	120

Genes (2) :GALNS GLB1

Diseases (2) :OMIM:253000 OMIM:253010

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