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:
Cupped ribs (HP:0000887)

..Starting node
..Flared, irregular rib ends (HP:0006603)

Term ID:

6603

Name:

Flared, irregular rib ends

Synonym:

Flared, irregular rib ends

Definition:

Comments:

Reference:

HP:0006603

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior rib cupping (HP:0000907)

Posterior rib cupping (HP:0000922)

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:0006603	HP:0006603	Flared, irregular rib ends	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52

Genes (1) :MMP13

Diseases (1) :OMIM:602111

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