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 enchondral ossification (HP:0003336)

Grandparent Node:
Abnormal rib morphology (HP:0000772)

Parent Node:
Abnormal rib ossification (HP:0012306)

..Starting node
..Absent in utero rib ossification (HP:0006615)

Term ID:

6615

Name:

Absent in utero rib ossification

Synonym:

Absent rib calcification in utero

Definition:

Lack of formation and mineralization of the ribs in utero.

Comments:

Reference:

HP:0006615

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior rib punctate calcifications (HP:0006619)

Costal cartilage calcification (HP:0006646)

Irregular ossification at anterior rib ends (HP:0006598)

Osteosclerosis of ribs (HP:0006634)

Precocious costochondral ossification (HP:0006607)

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:0006615	HP:0006615	Absent in utero rib ossification	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78

Genes (1) :BMPER

Diseases (1) :OMIM:608022

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