Human Phenotype Ontology

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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
..Incomplete ossification of pubis (HP:0030042)

Term ID:

30042

Name:

Incomplete ossification of pubis

Synonym:

Incomplete maturation of the pubic bone

Definition:

Failure to complete ossification (maturation and calcification) of the pubic bone.

Comments:

Reference:

HP:0030042

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed ossification of pubic rami (HP:0008785)

Delayed pubic bone ossification (HP:0008788)

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:0030042	HP:0030042	Incomplete ossification of pubis	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175

Genes (1) :FGFR2

Diseases (1) :ORPHA:313855

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