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
..Posterior rib cupping (HP:0000922)

Term ID:

922

Name:

Posterior rib cupping

Synonym:

Anterior and posterior rib cupping

Definition:

Wide, concave posterior rib end.

Comments:

Reference:

HP:0000922

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior rib cupping (HP:0000907)

Flared, irregular rib ends (HP:0006603)

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:0000922	HP:0000922	Posterior rib cupping	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0000922	HP:0000922	Posterior rib cupping	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000922	HP:0000922	Posterior rib cupping	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0000922	HP:0000922	Posterior rib cupping	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0000922	HP:0000922	Posterior rib cupping	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32

Genes (5) :BGN COL11A1 DDR2 INPPL1 MATN3

Diseases (5) :OMIM:300106 OMIM:228520 OMIM:271665 OMIM:258480 OMIM:608728

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