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
..Delayed ossification of pubic rami (HP:0008785)

Term ID:

8785

Name:

Delayed ossification of pubic rami

Synonym:

Definition:

Delayed maturation and calcification of the rami (branches) of the pubic bone.

Comments:

Reference:

HP:0008785

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed pubic bone ossification (HP:0008788)

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:0008785	HP:0008785	Delayed ossification of pubic rami	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0008785	HP:0008785	Delayed ossification of pubic rami	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3

Genes (2) :FIG4 GSC

Diseases (2) :OMIM:216340 OMIM:602471

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