Human Phenotype Ontology

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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
..Shallow acetabular fossae (HP:0003182)

Term ID:

3182

Name:

Shallow acetabular fossae

Synonym:

Shallow acetabula; Shallow acetabulae; Shallow acetabular fossa; Shallow acetabulum

Definition:

Comments:

Reference:

HP:0003182

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)

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:0003182	HP:0003182	Shallow acetabular fossae	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0003182	HP:0003182	Shallow acetabular fossae	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0003182	HP:0003182	Shallow acetabular fossae	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0003182	HP:0003182	Shallow acetabular fossae	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0003182	HP:0003182	Shallow acetabular fossae	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0003182	HP:0003182	Shallow acetabular fossae	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0003182	HP:0003182	Shallow acetabular fossae	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0003182	HP:0003182	Shallow acetabular fossae	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0003182	HP:0003182	Shallow acetabular fossae	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0003182	HP:0003182	Shallow acetabular fossae	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0003182	HP:0003182	Shallow acetabular fossae	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2

Genes (10) :GATA1 GNPTAB HOXA11 IFIH1 RAB23 RNU4ATAC SMARCAL1 TBX4 TONSL UFSP2

Diseases (11) :OMIM:190685 OMIM:252600 OMIM:605432 OMIM:182250 OMIM:201000 OMIM:226960 OMIM:242900 ORPHA:1830 ORPHA:261279 ORPHA:93357 OMIM:142669

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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