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:
Abnormality of the middle phalanx of the 3rd finger (HP:0004172)

Grandparent Node:
Duplication of phalanx of 3rd finger (HP:0009959)

Grandparent Node:
Duplication of the middle phalanx of hand (HP:0010008)

Parent Node:
Complete duplication of the middle phalanges of the hand (HP:0010002)

Parent Node:
Complete duplication of the phalanges of the 3rd finger (HP:0009960)

Parent Node:
Duplication of the middle phalanx of the 3rd finger (HP:0009963)

..Starting node
..Complete duplication of the middle phalanx of the 3rd finger (HP:0009966)

Term ID:

9966

Name:

Complete duplication of the middle phalanx of the 3rd finger

Synonym:

Complete duplication of the middle bone of the middle finger

Definition:

Complete duplication of the middle phalanx of middle finger.

Comments:

Reference:

HP:0009966

Genes and Diseases:

Child Nodes:

Sister Nodes:

Partial duplication of the middle phalanx of the 3rd finger (HP:0009969)

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:0009966	HP:0009966	Complete duplication of the middle 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.