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:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormality of hair pigmentation (HP:0009887)

..Starting node
..Melanin pigment aggregation in hair shafts (HP:0002220)

Term ID:

2220

Name:

Melanin pigment aggregation in hair shafts

Synonym:

Definition:

Comments:

Reference:

HP:0002220

Genes and Diseases:

Child Nodes:

........

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

Sister Nodes:

Hypopigmentation of hair (HP:0005599)

Premature graying of hair (HP:0002216)

Red hair (HP:0002297)

White eyebrow (HP:0002226)

White eyelashes (HP:0002227)

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:0002220	HP:0002220	Melanin pigment aggregation in hair shafts	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0002220	HP:0002220	Melanin pigment aggregation in hair shafts	0	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3		7
HP:0002220	HP:0002220	Melanin pigment aggregation in hair shafts	0	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1	.	35
HP:0002220	HP:0002220	Melanin pigment aggregation in hair shafts	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0002220	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0002220	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	1	MLPH CL E G H	79083	29643	OMIM:609227	Griscelli syndrome, type 3	.	7
HP:0002220	HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	1	MYO5A CL E G H	4644	7602	OMIM:214450	Griscelli syndrome, type 1		35

Genes (4) :LYST MLPH MYO5A RAB27A

Diseases (4) :ORPHA:167 OMIM:609227 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.