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
..Giant melanosomes in melanocytes (HP:0005592)

Term ID:

5592

Name:

Giant melanosomes in melanocytes

Synonym:

Macromelanosomes

Definition:

The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.

Comments:

Reference:

HP:0005592

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aberrant melanosome maturation (HP:0007384)

Accumulation of melanosomes in melanocytes (HP:0001008)

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:0005592	HP:0005592	Giant melanosomes in melanocytes	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040283 - Occasional	1
HP:0005592	HP:0005592	Giant melanosomes in melanocytes	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.	64
HP:0005592	HP:0005592	Giant melanosomes in melanocytes	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040283 - Occasional	64
HP:0005592	HP:0005592	Giant melanosomes in melanocytes	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239

Genes (3) :AP3D1 GPR143 LYST

Diseases (3) :ORPHA:54 OMIM:300500 OMIM:214500

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