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:
Deviation of the 5th finger (HP:0009179)

Grandparent Node:
Finger clinodactyly (HP:0040019)

Parent Node:
Abnormality of the distal phalanx of the 5th finger (HP:0004225)

Parent Node:
Clinodactyly of the 5th finger (HP:0004209)

..Starting node
..Fifth finger distal phalanx clinodactyly (HP:0005769)

Term ID:

5769

Name:

Fifth finger distal phalanx clinodactyly

Synonym:

Curvature of outermost bone of little finger; Curvature of outermost bone of pinkie finger; Curvature of outermost bone of pinky finger

Definition:

Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).

Comments:

Reference:

HP:0005769

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:0005769	HP:0005769	Fifth finger distal phalanx clinodactyly	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68

Genes (1) :GJA1

Diseases (1) :OMIM:257850

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