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 nail (HP:0001597)

Parent Node:
Abnormal fingernail morphology (HP:0001231)

Parent Node:
Onycholysis (HP:0001806)

..Starting node
..Onycholysis of fingernails (HP:0040039)

Term ID:

40039

Name:

Onycholysis of fingernails

Synonym:

Detachment of fingernails; Onycholysis of fingernail

Definition:

Comments:

Reference:

HP:0040039

Genes and Diseases:

Child Nodes:

........

Onycholysis of distal fingernails (HP:0008400)

Sister Nodes:

Onychomadesis (HP:0025088)

Toenail onycholysis (HP:0040040)

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:0040039	HP:0040039	Onycholysis of fingernails	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A	124
HP:0040039	HP:0008400	Onycholysis of distal fingernails	1	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A	124

Genes (1) :ITGB4

Diseases (1) :OMIM:619816

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