Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 fusion (HP:0000902)

..Starting node
..Posterior rib fusion (HP:0000913)

Term ID:

913

Name:

Posterior rib fusion

Synonym:

Definition:

Complete or partial merging of the posterior part of adjacent ribs.

Comments:

Reference:

HP:0000913

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:0000913	HP:0000913	Posterior rib fusion	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0000913	HP:0000913	Posterior rib fusion	0	TBX6 CL E G H	6911	11605	ORPHA:1797	Autosomal dominant spondylocostal dysostosis	HP:0040283 - Occasional	19
HP:0000913	HP:0000913	Posterior rib fusion	0	TBX6 CL E G H	6911	11605	OMIM:122600	Spondylocostal dysostosis 5	.	19

Genes (2) :FOXF1 TBX6

Diseases (3) :OMIM:265380 ORPHA:1797 OMIM:122600

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