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
..Aberrant melanosome maturation (HP:0007384)

Term ID:

7384

Name:

Aberrant melanosome maturation

Synonym:

Definition:

Comments:

Reference:

HP:0007384

Genes and Diseases:

Child Nodes:

Sister Nodes:

Accumulation of melanosomes in melanocytes (HP:0001008)

Giant melanosomes in melanocytes (HP:0005592)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007384	HP:0007384	Aberrant melanosome maturation	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2	83

Genes (1) :AP3B1

Diseases (1) :OMIM:608233

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