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
..Hypoplastic iliac body (HP:0008824)

Term ID:

8824

Name:

Hypoplastic iliac body

Synonym:

Hypoplastic iliac bodies; Small iliac bodies

Definition:

Underdevelopment of the body of ilium.

Comments:

Reference:

HP:0008824

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic iliac wing (HP:0002866)

Hypoplastic inferior ilia (HP:0008821)

Short iliac bones (HP:0100866)

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:0008824	HP:0008824	Hypoplastic iliac body	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0008824	HP:0008824	Hypoplastic iliac body	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0008824	HP:0008824	Hypoplastic iliac body	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0008824	HP:0008824	Hypoplastic iliac body	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	.	6

Genes (4) :B3GALT6 FLNB LIFR POP1

Diseases (4) :OMIM:271640 OMIM:112310 OMIM:601559 OMIM:617396

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