Human Phenotype Ontology

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 hip joint morphology (HP:0001384)

Parent Node:
Abnormal acetabulum morphology (HP:0003170)

..Starting node
..Steep acetabular roof (HP:0010455)

Term ID:

10455

Name:

Steep acetabular roof

Synonym:

Definition:

An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.

Comments:

Reference:

HP:0010455

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acetabular dysplasia (HP:0008807)

Acetabular spurs (HP:0010454)

Flat acetabular roof (HP:0003180)

Hypoplastic acetabulae (HP:0003274)

Irregular acetabular roof (HP:0008833)

Protrusio acetabuli (HP:0003179)

Shallow acetabular fossae (HP:0003182)

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:0010455	HP:0010455	Steep acetabular roof	0	CENPJ CL E G H	55835	17272	OMIM:613676	Seckel syndrome 4	.	161
HP:0010455	HP:0010455	Steep acetabular roof	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0010455	HP:0010455	Steep acetabular roof	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175

Genes (3) :CENPJ ERCC1 FGFR2

Diseases (3) :OMIM:613676 OMIM:610758 ORPHA:313855

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