Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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
..Narrow iliac wing (HP:0002868)

Term ID:

2868

Name:

Narrow iliac wing

Synonym:

Narrow iliac wings

Definition:

Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).

Comments:

Reference:

HP:0002868

Genes and Diseases:

Child Nodes:

Sister Nodes:

Constricted iliac wing (HP:0003277)

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)

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:0002868	HP:0002868	Narrow iliac wing	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0002868	HP:0002868	Narrow iliac wing	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS		39
HP:0002868	HP:0002868	Narrow iliac wing	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0002868	HP:0002868	Narrow iliac wing	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0002868	HP:0002868	Narrow iliac wing	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0002868	HP:0002868	Narrow iliac wing	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0002868	HP:0002868	Narrow iliac wing	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0002868	HP:0002868	Narrow iliac wing	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0002868	HP:0002868	Narrow iliac wing	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.	5
HP:0002868	HP:0002868	Narrow iliac wing	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002868	HP:0002868	Narrow iliac wing	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040282 - Frequent	17
HP:0002868	HP:0002868	Narrow iliac wing	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17

Genes (10) :COL2A1 CTSK EIF2AK3 NANS PEX5 RPS6KA3 SEC23A SEC24D SOX9 ZBTB20

Diseases (12) :OMIM:609162 OMIM:265800 OMIM:226980 OMIM:610442 OMIM:616716 OMIM:303600 ORPHA:192 OMIM:607812 OMIM:616294 OMIM:114290 ORPHA:3042 OMIM:259050

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen