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:
Neoplasm of the skeletal system (HP:0010622)

Parent Node:
Abnormal rib morphology (HP:0000772)

Parent Node:
Exostoses (HP:0100777)

..Starting node
..Rib exostoses (HP:0000896)

Term ID:

896

Name:

Rib exostoses

Synonym:

Definition:

Multiple circumscribed bony excrescences located in the ribs.

Comments:

Reference:

HP:0000896

Genes and Diseases:

Child Nodes:

Sister Nodes:

Exostoses of hand bones (HP:0004276)

Exostoses of the forearm bones (HP:0003960)

Exostosis of the external auditory canal (HP:0004459)

Multiple exostoses (HP:0002762)

Pelvic bone exostoses (HP:0003276)

Scapular exostoses (HP:0000918)

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:0000896	HP:0000896	Rib exostoses	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0000896	HP:0000896	Rib exostoses	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0000896	HP:0000896	Rib exostoses	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102
HP:0000896	HP:0000896	Rib exostoses	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102

Genes (2) :EXT1 EXT2

Diseases (3) :OMIM:133700 ORPHA:321 OMIM:133701

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