Human Phenotype Ontology 
Grandparent Node:
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Abnormality of hair pigmentation (HP:0009887)help
Parent Node:
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Generalized hypopigmentation (HP:0007513)help
Parent Node:
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Hypopigmentation of hair (HP:0005599)help
..Starting node
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Albinism (HP:0001022)help
Term ID: 1022
Name: Albinism
Synonym: Achromasia; Albinism
Definition: An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Comments:
Reference: HP:0001022
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGeneralized hypopigmentation of hair (HP:0011358) help
..expandPatchy hypopigmentation of hair (HP:0011365) 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:0001022HP:0001022Albinism0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001022HP:0001022Albinism0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0001022HP:0001022Albinism0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0001022HP:0001022Albinism0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0001022HP:0001022Albinism0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease.58
HP:0001022HP:0001022Albinism0DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 7.46
HP:0001022HP:0001022Albinism0EDNRB CL E G H19103180OMIM:600501Abcd syndrome.55
HP:0001022HP:0001022Albinism0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001022HP:0001022Albinism0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0001022HP:0001022Albinism0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0001022HP:0001022Albinism0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0001022HP:0001022Albinism0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0001022HP:0001022Albinism0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0001022HP:0001022Albinism0LRMDA CL E G H8393823405OMIM:615179Albinism, oculocutaneous, type V.13
HP:0001022HP:0001022Albinism0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0001022HP:0001022Albinism0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.HP:0003577 - Congenital onset91
HP:0001022HP:0001022Albinism0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0001022HP:0001022Albinism0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0001022HP:0001022Albinism0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0001022HP:0001022Albinism0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0001022HP:0001022Albinism0TYR CL E G H729912442OMIM:606952Albinism, oculocutaneous, type IB.146
HP:0001022HP:0001022Albinism0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0001022HP:0001022Albinism0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040281 - Very frequent146
HP:0001022HP:0001022Albinism0TYRP1 CL E G H730612450OMIM:203290Albinism, oculocutaneous, type III.62
HP:0001022HP:0001022Albinism0WDR45 CL E G H1115228912OMIM:615179Albinism, oculocutaneous, type V.51


Genes (21) :AP3B1 AP3D1 BLOC1S3 BLOC1S5 CACNA1F DTNBP1 EDNRB EPG5 HPS1 HPS3 HPS4 HPS5 HPS6 LRMDA MC1R MITF OCA2 SLC45A2 TYR TYRP1 WDR45

Diseases (23) :OMIM:608233 OMIM:617050 OMIM:614077 OMIM:619172 OMIM:300600 OMIM:614076 OMIM:600501 OMIM:242840 OMIM:203300 OMIM:614072 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:615179 OMIM:203200 OMIM:193510 OMIM:606574 ORPHA:79435 OMIM:203100 OMIM:606952 ORPHA:79431 ORPHA:79434 OMIM:203290
 

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