Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 iris pigmentation (HP:0008034)

Parent Node:
Abnormal fundus morphology (HP:0001098)

Parent Node:
Iris hypopigmentation (HP:0007730)

..Starting node
..Ocular albinism (HP:0001107)

Term ID:

1107

Name:

Ocular albinism

Synonym:

Absent pigmentation in the eye; Albinism, Ocular

Definition:

An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.

Comments:

Reference:

HP:0001107

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:0001107	HP:0001107	Ocular albinism	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001107	HP:0001107	Ocular albinism	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0001107	HP:0001107	Ocular albinism	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent	1
HP:0001107	HP:0001107	Ocular albinism	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent	1
HP:0001107	HP:0001107	Ocular albinism	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0001107	HP:0001107	Ocular albinism	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0001107	HP:0001107	Ocular albinism	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.	35
HP:0001107	HP:0001107	Ocular albinism	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0001107	HP:0001107	Ocular albinism	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.	46
HP:0001107	HP:0001107	Ocular albinism	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0001107	HP:0001107	Ocular albinism	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0001107	HP:0001107	Ocular albinism	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.	64
HP:0001107	HP:0001107	Ocular albinism	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent	64
HP:0001107	HP:0001107	Ocular albinism	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0001107	HP:0001107	Ocular albinism	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0001107	HP:0001107	Ocular albinism	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0001107	HP:0001107	Ocular albinism	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0001107	HP:0001107	Ocular albinism	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0001107	HP:0001107	Ocular albinism	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0001107	HP:0001107	Ocular albinism	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001107	HP:0001107	Ocular albinism	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0001107	HP:0001107	Ocular albinism	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001107	HP:0001107	Ocular albinism	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001107	HP:0001107	Ocular albinism	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001107	HP:0001107	Ocular albinism	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0001107	HP:0001107	Ocular albinism	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001107	HP:0001107	Ocular albinism	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0001107	HP:0001107	Ocular albinism	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0001107	HP:0001107	Ocular albinism	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent	42
HP:0001107	HP:0001107	Ocular albinism	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	HP:0040283 - Occasional	61
HP:0001107	HP:0001107	Ocular albinism	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0001107	HP:0001107	Ocular albinism	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0001107	HP:0001107	Ocular albinism	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent	146
HP:0001107	HP:0001107	Ocular albinism	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional

Genes (29) :AP3B1 AP3D1 BLOC1S3 BLOC1S5 BLOC1S6 CASZ1 DTNBP1 EPG5 GABRD GPR143 HPS1 HPS4 HPS5 HPS6 HSPG2 KCNAB2 LUZP1 LYST MMP23B PDPN PRDM16 PRKCZ RERE SKI SLC45A2 SOX10 SPEN TYR UBE4B

Diseases (21) :OMIM:608233 OMIM:617050 ORPHA:1000 ORPHA:54 OMIM:614077 OMIM:619172 OMIM:614171 ORPHA:1606 OMIM:614076 OMIM:242840 OMIM:300500 OMIM:203300 OMIM:614073 OMIM:614074 OMIM:614075 ORPHA:352723 OMIM:214500 ORPHA:79435 OMIM:611584 OMIM:203100 ORPHA:79431

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

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