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)

Parent Node:
Rib gap (HP:0030280)

..Starting node
..Posterior rib gap (HP:0030282)

Term ID:

30282

Name:

Posterior rib gap

Synonym:

Dorsal rib defect

Definition:

Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.

Comments:

Reference:

HP:0030282

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:0030282	HP:0030282	Posterior rib gap	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0030282	HP:0030282	Posterior rib gap	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040281 - Very frequent	6

Genes (2) :COG1 SNRPB

Diseases (2) :ORPHA:263508 ORPHA:1393

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