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 skin pigmentation (HP:0001000)

Grandparent Node:
Nevus (HP:0003764)

Parent Node:
Melanocytic nevus (HP:0000995)

..Starting node
..Numerous congenital melanocytic nevi (HP:0005603)

Term ID:

5603

Name:

Numerous congenital melanocytic nevi

Synonym:

Definition:

Comments:

Reference:

HP:0005603

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital giant melanocytic nevus (HP:0005600)

Hyperpigmented nevi (HP:0007481)

Hyperpigmented nevi and streak (HP:0005606)

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:0005603	HP:0005603	Numerous congenital melanocytic nevi	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	.	102

Genes (1) :NRAS

Diseases (1) :OMIM:249400

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