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:
Duplication of the proximal phalanx of hand (HP:0010006)

Grandparent Node:
Partial duplication of the phalanx of hand (HP:0009999)

Parent Node:
Duplication of the 1st metacarpal (HP:0009609)

Parent Node:
Partial duplication of the proximal phalanges of the hand (HP:0010003)

..Starting node
..Bifid first metacarpal (HP:0009616)

Term ID:

9616

Name:

Bifid first metacarpal

Synonym:

Notched first long bone of hand; partial duplication of the first metacarpal

Definition:

Partial duplication of the first metacarpal bone.

Comments:

Reference:

HP:0009616

Genes and Diseases:

Child Nodes:

Sister Nodes:

Partial duplication of the proximal phalanx of the 2nd finger (HP:0009955)

Partial duplication of the proximal phalanx of the 3rd finger (HP:0009970)

Partial duplication of the proximal phalanx of the 4th finger (HP:0009983)

Partial duplication of the proximal phalanx of the 5th finger (HP:0009996)

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:0009616	HP:0009616	Bifid first metacarpal	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	15

Genes (1) :RNU4ATAC

Diseases (1) :OMIM:210710

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