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:
Hypoplastic ilia (HP:0000946)

..Starting node
..Short iliac bones (HP:0100866)

Term ID:

100866

Name:

Short iliac bones

Synonym:

Short pelvis bones

Definition:

Underdevelopment of the iliac bones.

Comments:

Reference:

HP:0100866

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic iliac body (HP:0008824)

Hypoplastic iliac wing (HP:0002866)

Hypoplastic inferior ilia (HP:0008821)

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:0100866	HP:0100866	Short iliac bones	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0100866	HP:0100866	Short iliac bones	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0100866	HP:0100866	Short iliac bones	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95

Genes (3) :ACP5 COL2A1 WDR19

Diseases (3) :OMIM:607944 ORPHA:93316 OMIM:614376

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