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 rib morphology (HP:0000772)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Abnormal rib ossification (HP:0012306)

Parent Node:
Calcification of ribs (HP:0040059)

..Starting node
..Anterior rib punctate calcifications (HP:0006619)

Term ID:

6619

Name:

Anterior rib punctate calcifications

Synonym:

Definition:

Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.

Comments:

Reference:

HP:0006619

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006619	HP:0006619	Anterior rib punctate calcifications	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0006619	HP:0006619	Anterior rib punctate calcifications	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0006619	HP:0006619	Anterior rib punctate calcifications	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70

Genes (2) :EBP LBR

Diseases (3) :ORPHA:35173 OMIM:215140 ORPHA:1426

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