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 hair pigmentation (HP:0009887)

Parent Node:
Melanin pigment aggregation in hair shafts (HP:0002220)

..Starting node
..Large clumps of pigment irregularly distributed along hair shaft (HP:0004527)

Term ID:

4527

Name:

Large clumps of pigment irregularly distributed along hair shaft

Synonym:

Large clumps of pigment irregularly distributed along hair shaft

Definition:

Comments:

Reference:

HP:0004527

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004527	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0004527	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	0	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.	7
HP:0004527	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1		35

Genes (3) :LYST MLPH MYO5A

Diseases (3) :ORPHA:167 OMIM:609227 OMIM:214450

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