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:
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 proximal phalanx of the 3rd finger (HP:0009964)

Parent Node:
Partial duplication of the phalanges of the 3rd finger (HP:0009961)

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

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

Term ID:

9970

Name:

Partial duplication of the proximal phalanx of the 3rd finger

Synonym:

Partial duplication of the proximal bone of the middle finger

Definition:

Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.

Comments:

Reference:

HP:0009970

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bifid first metacarpal (HP:0009616)

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

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	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009970	HP:0009970	Partial duplication of the proximal phalanx of the 3rd finger	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16

Genes (1) :CHSY1

Diseases (1) :ORPHA:363417

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