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:
Abnormality of nail color (HP:0100643)

..Starting node
..Melanonychia (HP:0100644)

Term ID:

100644

Name:

Melanonychia

Synonym:

Definition:

Brown or black discoloration of the nails.

Comments:

Reference:

HP:0100644

Genes and Diseases:

Child Nodes:

Sister Nodes:

Leukonychia (HP:0001820)

Yellow nails (HP:0011367)

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:0100644	HP:0100644	Melanonychia	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040282 - Frequent	46
HP:0100644	HP:0100644	Melanonychia	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740

Genes (2) :KIF11 STK11

Diseases (2) :ORPHA:2526 ORPHA:2869

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