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 bone morphology (HP:0003272)

Parent Node:
Abnormal pelvis bone ossification (HP:0009106)

Parent Node:
Abnormality of the pubic bone (HP:0003172)

..Starting node
..Abnormal ossification of the pubic bone (HP:0009105)

Term ID:

9105

Name:

Abnormal ossification of the pubic bone

Synonym:

Abnormal maturation of the pubic bone

Definition:

Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.

Comments:

Reference:

HP:0009105

Genes and Diseases:

Child Nodes:

........

Delayed ossification of pubic rami (HP:0008785)

........

Delayed pubic bone ossification (HP:0008788)

........

Incomplete ossification of pubis (HP:0030042)

Sister Nodes:

Aplasia/Hypoplasia of the pubic bone (HP:0009104)

Narrow foramen obturatorium (HP:0100958)

Wide pubic symphysis (HP:0003183)

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:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome		284
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0009105	HP:0009105	Abnormal ossification of the pubic bone	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent	284
HP:0009105	HP:0030042	Incomplete ossification of pubis	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0009105	HP:0008785	Delayed ossification of pubic rami	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0009105	HP:0008785	Delayed ossification of pubic rami	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0009105	HP:0008788	Delayed pubic bone ossification	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type

Genes (9) :COL2A1 FGFR2 FIG4 GJB2 GJB6 GSC NKX3-2 RUNX2 SIK3

Diseases (11) :ORPHA:93296 OMIM:184250 OMIM:183900 ORPHA:1856 ORPHA:313855 OMIM:216340 ORPHA:477 OMIM:602471 OMIM:613330 OMIM:119600 OMIM:618162

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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