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 hip bone morphology (HP:0003272)

Parent Node:
Abnormal ilium morphology (HP:0002867)

..Starting node
..Irregular iliac crest (HP:0003796)

Term ID:

3796

Name:

Irregular iliac crest

Synonym:

Definition:

Irregularity of the iliac crest, which is the superior border of the wing of the ilium.

Comments:

Reference:

HP:0003796

Genes and Diseases:

Child Nodes:

........

Iliac crest serration (HP:0008786)

........

Iliac horns (HP:0009780)

Sister Nodes:

Abnormal iliac wing morphology (HP:0011867)

Abnormal sacroiliac joint morphology (HP:0100781)

Hypoplastic ilia (HP:0000946)

Snail-like ilia (HP:0031026)

Squared iliac bones (HP:0003177)

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:0003796	HP:0003796	Irregular iliac crest	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0003796	HP:0003796	Irregular iliac crest	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease		65
HP:0003796	HP:0003796	Irregular iliac crest	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0003796	HP:0003796	Irregular iliac crest	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0003796	HP:0003796	Irregular iliac crest	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0003796	HP:0003796	Irregular iliac crest	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0003796	HP:0003796	Irregular iliac crest	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0003796	HP:0003796	Irregular iliac crest	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0003796	HP:0003796	Irregular iliac crest	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0003796	HP:0008786	Iliac crest serration	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0003796	HP:0008786	Iliac crest serration	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0003796	HP:0008786	Iliac crest serration	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0003796	HP:0008786	Iliac crest serration	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent	3
HP:0003796	HP:0009780	Iliac horns	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0003796	HP:0009780	Iliac horns	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040282 - Frequent	165
HP:0003796	HP:0008786	Iliac crest serration	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1

Genes (6) :COL2A1 DYM GPX4 IDH1 LMX1B PAM16

Diseases (9) :ORPHA:93316 ORPHA:239 OMIM:223800 ORPHA:93317 OMIM:250220 ORPHA:99646 ORPHA:2614 OMIM:161200 OMIM:613320

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

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