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

..Starting node
..Triphalangeal hallux (HP:0032612)

Term ID:

32612

Name:

Triphalangeal hallux

Synonym:

Definition:

A hallux (big toe) with three phalanges in a single, proximo-distal axis.

Comments:

Reference:

HP:0032612

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032612	HP:0032612	Triphalangeal hallux	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	93
HP:0032612	HP:0032612	Triphalangeal hallux	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	22

Genes (2) :IFT122 SMO

Diseases (2) :OMIM:218330 OMIM:601707

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