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)

Parent Node:
Mottled pigmentation (HP:0001070)

..Starting node
..Mottled pigmentation of the trunk and proximal extremities (HP:0007438)

Term ID:

7438

Name:

Mottled pigmentation of the trunk and proximal extremities

Synonym:

Definition:

Comments:

Reference:

HP:0007438

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mottled pigmentation of photoexposed areas (HP:0007511)

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:0007438	HP:0007438	Mottled pigmentation of the trunk and proximal extremities	0	KRT5 CL E G H	3852	6442	OMIM:131960	Epidermolysis bullosa simplex with mottled pigmentation	.	173

Genes (1) :KRT5

Diseases (1) :OMIM:131960

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