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:
Abnormal finger phalanx morphology (HP:0005918)

Parent Node:
Abnormal proximal phalanx morphology of the hand (HP:0009834)

Parent Node:
Long phalanx of finger (HP:0006155)

..Starting node
..Long proximal phalanx of finger (HP:0006127)

Term ID:

6127

Name:

Long proximal phalanx of finger

Synonym:

Long innermost finger bone

Definition:

Increased length of the proximal phalanx of finger.

Comments:

Reference:

HP:0006127

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:0006127	HP:0006127	Long proximal phalanx of finger	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14

Genes (1) :KIF22

Diseases (1) :OMIM:603546

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