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:
Irregular iliac crest (HP:0003796)

..Starting node
..Iliac crest serration (HP:0008786)

Term ID:

8786

Name:

Iliac crest serration

Synonym:

Irregular lacy iliac crest; Lacy appearance of iliac crest

Definition:

Irregularities of the iliac crest that produce the appearance of a lace border around it.

Comments:

Reference:

HP:0008786

Genes and Diseases:

Child Nodes:

Sister Nodes:

Iliac horns (HP:0009780)

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:0008786	HP:0008786	Iliac crest serration	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0008786	HP:0008786	Iliac crest serration	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0008786	HP:0008786	Iliac crest serration	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent	3
HP:0008786	HP:0008786	Iliac crest serration	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0008786	HP:0008786	Iliac crest serration	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1

Genes (3) :DYM GPX4 PAM16

Diseases (5) :ORPHA:239 OMIM:223800 ORPHA:93317 OMIM:250220 OMIM:613320

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