Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormal eyebrow morphology (HP:0000534)help
Parent Node:
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Abnormality of hair pigmentation (HP:0009887)help
..Starting node
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White eyebrow (HP:0002226)help
Term ID: 2226
Name: White eyebrow
Synonym: Blonde eyebrow; Depigmented eyebrow; Grey eyebrow; Hypopigmented eyebrow; Pale eyebrow; White eyebrow
Definition: White color (lack of pigmentation) of the eyebrow.
Comments:
Reference: HP:0002226
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypopigmentation of hair (HP:0005599) help
..expandMelanin pigment aggregation in hair shafts (HP:0002220) help
..expandPremature graying of hair (HP:0002216) help
..expandRed hair (HP:0002297) help
..expandWhite eyelashes (HP:0002227) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002226HP:0002226White eyebrow0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B.67
HP:0002226HP:0002226White eyebrow0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent67
HP:0002226HP:0002226White eyebrow0EDNRB CL E G H19103180OMIM:600501Abcd syndrome55
HP:0002226HP:0002226White eyebrow0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent55
HP:0002226HP:0002226White eyebrow0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0002226HP:0002226White eyebrow0KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040282 - Frequent327
HP:0002226HP:0002226White eyebrow0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0002226HP:0002226White eyebrow0MITF CL E G H42867105ORPHA:42665Tietz syndromeHP:0040281 - Very frequent91
HP:0002226HP:0002226White eyebrow0MITF CL E G H42867105OMIM:103500Tietz syndrome.91
HP:0002226HP:0002226White eyebrow0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0002226HP:0002226White eyebrow0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent91
HP:0002226HP:0002226White eyebrow0MYO5A CL E G H46447602OMIM:214450Griscelli syndrome, type 135
HP:0002226HP:0002226White eyebrow0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0002226HP:0002226White eyebrow0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040281 - Very frequent59
HP:0002226HP:0002226White eyebrow0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0002226HP:0002226White eyebrow0SNAI2 CL E G H659111094ORPHA:2884PiebaldismHP:0040282 - Frequent19
HP:0002226HP:0002226White eyebrow0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0002226HP:0002226White eyebrow0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0002226HP:0002226White eyebrow0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0002226HP:0002226White eyebrow0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040281 - Very frequent61
HP:0002226HP:0002226White eyebrow0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 3HP:0040283 - Occasional62


Genes (11) :EDN3 EDNRB KIT MC1R MITF MYO5A OCA2 PAX3 SNAI2 SOX10 TYRP1

Diseases (16) :OMIM:613265 ORPHA:897 OMIM:600501 OMIM:277580 ORPHA:2884 ORPHA:79432 ORPHA:42665 OMIM:103500 OMIM:193510 OMIM:214450 ORPHA:894 OMIM:193500 OMIM:609136 OMIM:611584 OMIM:613266 ORPHA:79433
 

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