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 pelvis bone ossification (HP:0009106)

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

Parent Node:
Abnormal ossification of the pubic bone (HP:0009105)

..Starting node
..Delayed pubic bone ossification (HP:0008788)

Term ID:

8788

Name:

Delayed pubic bone ossification

Synonym:

Absent pubic ossification in infancy; Delayed maturation fo pubic bone; Delayed mineralization of pubic bone

Definition:

Delayed maturation and calcification of the pubic bone.

Comments:

Reference:

HP:0008788

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed ossification of pubic rami (HP:0008785)

Incomplete ossification of pubis (HP:0030042)

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:0008788	HP:0008788	Delayed pubic bone ossification	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0008788	HP:0008788	Delayed pubic bone ossification	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0008788	HP:0008788	Delayed pubic bone ossification	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0008788	HP:0008788	Delayed pubic bone ossification	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent	284
HP:0008788	HP:0008788	Delayed pubic bone ossification	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0008788	HP:0008788	Delayed pubic bone ossification	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0008788	HP:0008788	Delayed pubic bone ossification	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0008788	HP:0008788	Delayed pubic bone ossification	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0008788	HP:0008788	Delayed pubic bone ossification	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type

Genes (6) :COL2A1 GJB2 GJB6 NKX3-2 RUNX2 SIK3

Diseases (8) :ORPHA:93296 OMIM:184250 OMIM:183900 ORPHA:1856 ORPHA:477 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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