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
..Hypoplastic acetabulae (HP:0003274)

Term ID:

3274

Name:

Hypoplastic acetabulae

Synonym:

Acetabular hypoplasia; Hypoplastic acetabula

Definition:

Underdeveloped acetabulae.

Comments:

Reference:

HP:0003274

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acetabular dysplasia (HP:0008807)

Acetabular spurs (HP:0010454)

Flat acetabular roof (HP:0003180)

Irregular acetabular roof (HP:0008833)

Protrusio acetabuli (HP:0003179)

Shallow acetabular fossae (HP:0003182)

Steep acetabular roof (HP:0010455)

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:0003274	HP:0003274	Hypoplastic acetabulae	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0003274	HP:0003274	Hypoplastic acetabulae	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0003274	HP:0003274	Hypoplastic acetabulae	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0003274	HP:0003274	Hypoplastic acetabulae	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0003274	HP:0003274	Hypoplastic acetabulae	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5

Genes (4) :ARSB DYM GLB1 LAMA5

Diseases (5) :OMIM:253200 ORPHA:239 OMIM:607326 OMIM:230650 OMIM:620076

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