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:
Abnormality of dermal melanosomes (HP:0011125)

..Starting node
..Accumulation of melanosomes in melanocytes (HP:0001008)

Term ID:

1008

Name:

Accumulation of melanosomes in melanocytes

Synonym:

Definition:

Comments:

Reference:

HP:0001008

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aberrant melanosome maturation (HP:0007384)

Giant melanosomes in melanocytes (HP:0005592)

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:0001008	HP:0001008	Accumulation of melanosomes in melanocytes	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.	35
HP:0001008	HP:0001008	Accumulation of melanosomes in melanocytes	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67

Genes (2) :MYO5A RAB27A

Diseases (2) :OMIM:214450 OMIM:607624

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