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 pelvic girdle bone morphology (HP:0002644)

Parent Node:
Abnormal pelvis bone morphology (HP:0040163)

..Starting node
..Narrow pelvis bone (HP:0003275)

Term ID:

3275

Name:

Narrow pelvis bone

Synonym:

Narrow pelvis; Narrow pelvis bone

Definition:

Reduced side to side width of the pelvis.

Comments:

Reference:

HP:0003275

Genes and Diseases:

Child Nodes:

Sister Nodes:

Halberd-shaped pelvis (HP:0002826)

Large pelvis bone (HP:0010779)

Pelvic bone asymmetry (HP:0010453)

Pelvic bone exostoses (HP:0003276)

Square pelvis bone (HP:0003278)

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:0003275	HP:0003275	Narrow pelvis bone	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0003275	HP:0003275	Narrow pelvis bone	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent	78
HP:0003275	HP:0003275	Narrow pelvis bone	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0003275	HP:0003275	Narrow pelvis bone	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0003275	HP:0003275	Narrow pelvis bone	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0003275	HP:0003275	Narrow pelvis bone	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0003275	HP:0003275	Narrow pelvis bone	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0003275	HP:0003275	Narrow pelvis bone	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0003275	HP:0003275	Narrow pelvis bone	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0003275	HP:0003275	Narrow pelvis bone	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.	58
HP:0003275	HP:0003275	Narrow pelvis bone	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0003275	HP:0003275	Narrow pelvis bone	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0003275	HP:0003275	Narrow pelvis bone	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2

Genes (8) :BGN BMPER FGFR2 IDUA PCNT POR PTH1R RSPRY1

Diseases (12) :OMIM:300106 ORPHA:66637 OMIM:608022 OMIM:207410 ORPHA:93473 ORPHA:2637 OMIM:210720 ORPHA:95699 OMIM:600002 ORPHA:79106 ORPHA:457395 OMIM:616723

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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