Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormality iris morphology (HP:0000525)

Parent Node:
Abnormal iris pigmentation (HP:0008034)

..Starting node
..Iris hypopigmentation (HP:0007730)

Term ID:

7730

Name:

Iris hypopigmentation

Synonym:

Light eye color; Light eye colour; Reduced iris pigmentation

Definition:

An abnormal reduction in the amount of pigmentation of the iris.

Comments:

Reference:

HP:0007730

Genes and Diseases:

Child Nodes:

........

Ocular albinism (HP:0001107)

Sister Nodes:

Asymmetry of iris pigmentation (HP:0200064)

Blue irides (HP:0000635)

Brushfield spots (HP:0001088)

Iris pigment dispersion (HP:0012634)

Iris transillumination defect (HP:0012805)

Stellate iris (HP:0012775)

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:0007730	HP:0007730	Iris hypopigmentation	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent	530
HP:0007730	HP:0007730	Iris hypopigmentation	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0007730	HP:0007730	Iris hypopigmentation	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0007730	HP:0007730	Iris hypopigmentation	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness		1
HP:0007730	HP:0007730	Iris hypopigmentation	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent	1
HP:0007730	HP:0007730	Iris hypopigmentation	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0007730	HP:0007730	Iris hypopigmentation	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	4
HP:0007730	HP:0007730	Iris hypopigmentation	0	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent	182
HP:0007730	HP:0007730	Iris hypopigmentation	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8		42
HP:0007730	HP:0007730	Iris hypopigmentation	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0007730	HP:0007730	Iris hypopigmentation	0	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9		35
HP:0007730	HP:0007730	Iris hypopigmentation	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0007730	HP:0007730	Iris hypopigmentation	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	636
HP:0007730	HP:0007730	Iris hypopigmentation	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent	9
HP:0007730	HP:0007730	Iris hypopigmentation	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	15
HP:0007730	HP:0007730	Iris hypopigmentation	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent	60
HP:0007730	HP:0007730	Iris hypopigmentation	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7		46
HP:0007730	HP:0007730	Iris hypopigmentation	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0007730	HP:0007730	Iris hypopigmentation	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	33
HP:0007730	HP:0007730	Iris hypopigmentation	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0007730	HP:0007730	Iris hypopigmentation	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I		64
HP:0007730	HP:0007730	Iris hypopigmentation	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent	64
HP:0007730	HP:0007730	Iris hypopigmentation	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0007730	HP:0007730	Iris hypopigmentation	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0007730	HP:0007730	Iris hypopigmentation	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0007730	HP:0007730	Iris hypopigmentation	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4		123
HP:0007730	HP:0007730	Iris hypopigmentation	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0007730	HP:0007730	Iris hypopigmentation	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0007730	HP:0007730	Iris hypopigmentation	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0007730	HP:0007730	Iris hypopigmentation	0	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent	4
HP:0007730	HP:0007730	Iris hypopigmentation	0	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent	120
HP:0007730	HP:0007730	Iris hypopigmentation	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0007730	HP:0007730	Iris hypopigmentation	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0007730	HP:0007730	Iris hypopigmentation	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome		239
HP:0007730	HP:0007730	Iris hypopigmentation	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0007730	HP:0007730	Iris hypopigmentation	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0007730	HP:0007730	Iris hypopigmentation	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0007730	HP:0007730	Iris hypopigmentation	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare	63
HP:0007730	HP:0007730	Iris hypopigmentation	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare	63
HP:0007730	HP:0007730	Iris hypopigmentation	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0007730	HP:0007730	Iris hypopigmentation	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0007730	HP:0007730	Iris hypopigmentation	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	124
HP:0007730	HP:0007730	Iris hypopigmentation	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0007730	HP:0007730	Iris hypopigmentation	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	MLPH CL E G H	79083	29643	ORPHA:79478	Griscelli syndrome type 3	HP:0040283 - Occasional	7
HP:0007730	HP:0007730	Iris hypopigmentation	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent	35
HP:0007730	HP:0007730	Iris hypopigmentation	0	MYO5A CL E G H	4644	7602	ORPHA:79478	Griscelli syndrome type 3	HP:0040283 - Occasional	35
HP:0007730	HP:0007730	Iris hypopigmentation	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	516
HP:0007730	HP:0007730	Iris hypopigmentation	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent	516
HP:0007730	HP:0007730	Iris hypopigmentation	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare
HP:0007730	HP:0007730	Iris hypopigmentation	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare
HP:0007730	HP:0007730	Iris hypopigmentation	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0007730	HP:0007730	Iris hypopigmentation	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0007730	HP:0007730	Iris hypopigmentation	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0007730	HP:0007730	Iris hypopigmentation	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0007730	HP:0007730	Iris hypopigmentation	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent	121
HP:0007730	HP:0007730	Iris hypopigmentation	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare	121
HP:0007730	HP:0007730	Iris hypopigmentation	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0007730	HP:0007730	Iris hypopigmentation	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0007730	HP:0007730	Iris hypopigmentation	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	352
HP:0007730	HP:0007730	Iris hypopigmentation	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent	40
HP:0007730	HP:0007730	Iris hypopigmentation	0	PITX2 CL E G H	5308	9005	OMIM:137600	ANTERIOR SEGMENT DYSGENESIS 4; ASGD4		51
HP:0007730	HP:0007730	Iris hypopigmentation	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0007730	HP:0007730	Iris hypopigmentation	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent	159
HP:0007730	HP:0007730	Iris hypopigmentation	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040283 - Occasional	67
HP:0007730	HP:0007730	Iris hypopigmentation	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0007730	HP:0007730	Iris hypopigmentation	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0007730	HP:0007730	Iris hypopigmentation	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent	42
HP:0007730	HP:0007730	Iris hypopigmentation	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	37
HP:0007730	HP:0007730	Iris hypopigmentation	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040284 - Very rare	37
HP:0007730	HP:0007730	Iris hypopigmentation	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040284 - Very rare	37
HP:0007730	HP:0007730	Iris hypopigmentation	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0007730	HP:0007730	Iris hypopigmentation	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0007730	HP:0007730	Iris hypopigmentation	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0007730	HP:0007730	Iris hypopigmentation	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E		61
HP:0007730	HP:0007730	Iris hypopigmentation	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0007730	HP:0007730	Iris hypopigmentation	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0007730	HP:0007730	Iris hypopigmentation	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA		146
HP:0007730	HP:0007730	Iris hypopigmentation	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent	146
HP:0007730	HP:0007730	Iris hypopigmentation	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040281 - Very frequent	146
HP:0007730	HP:0007730	Iris hypopigmentation	0	TYRP1 CL E G H	7306	12450	ORPHA:79433	Oculocutaneous albinism type 3	HP:0040282 - Frequent	62
HP:0007730	HP:0007730	Iris hypopigmentation	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent	278
HP:0007730	HP:0007730	Iris hypopigmentation	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040282 - Frequent	278
HP:0007730	HP:0007730	Iris hypopigmentation	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0007730	HP:0007730	Iris hypopigmentation	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	278
HP:0007730	HP:0007730	Iris hypopigmentation	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0007730	HP:0007730	Iris hypopigmentation	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	173
HP:0007730	HP:0007730	Iris hypopigmentation	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent	78
HP:0007730	HP:0007730	Iris hypopigmentation	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent	777
HP:0007730	HP:0007730	Iris hypopigmentation	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent	155
HP:0007730	HP:0007730	Iris hypopigmentation	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent	5
HP:0007730	HP:0001107	Ocular albinism	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0007730	HP:0001107	Ocular albinism	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10		1
HP:0007730	HP:0001107	Ocular albinism	1	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent	1
HP:0007730	HP:0001107	Ocular albinism	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent	1
HP:0007730	HP:0001107	Ocular albinism	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0007730	HP:0001107	Ocular albinism	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0007730	HP:0001107	Ocular albinism	1	BLOC1S6 CL E G H	26258	8549	OMIM:614171	Hermansky-Pudlak syndrome 9	.	35
HP:0007730	HP:0001107	Ocular albinism	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0007730	HP:0001107	Ocular albinism	1	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.	46
HP:0007730	HP:0001107	Ocular albinism	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0007730	HP:0001107	Ocular albinism	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0007730	HP:0001107	Ocular albinism	1	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.	64
HP:0007730	HP:0001107	Ocular albinism	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent	64
HP:0007730	HP:0001107	Ocular albinism	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0007730	HP:0001107	Ocular albinism	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.	123
HP:0007730	HP:0001107	Ocular albinism	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0007730	HP:0001107	Ocular albinism	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0007730	HP:0001107	Ocular albinism	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0007730	HP:0001107	Ocular albinism	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0007730	HP:0001107	Ocular albinism	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0007730	HP:0001107	Ocular albinism	1	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0007730	HP:0001107	Ocular albinism	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0007730	HP:0001107	Ocular albinism	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0007730	HP:0001107	Ocular albinism	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0007730	HP:0001107	Ocular albinism	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0007730	HP:0001107	Ocular albinism	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0007730	HP:0001107	Ocular albinism	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0007730	HP:0001107	Ocular albinism	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0007730	HP:0001107	Ocular albinism	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent	42
HP:0007730	HP:0001107	Ocular albinism	1	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	HP:0040283 - Occasional	61
HP:0007730	HP:0001107	Ocular albinism	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0007730	HP:0001107	Ocular albinism	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.	146
HP:0007730	HP:0001107	Ocular albinism	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent	146
HP:0007730	HP:0001107	Ocular albinism	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional

Genes (72) :ADGRV1 AP3B1 AP3D1 ARSG ATP10A BEST1 BLOC1S3 BLOC1S5 BLOC1S6 CASZ1 CDH23 CEP78 CIB2 CLRN1 DTNBP1 EPG5 ESPN GABRD GPR143 HARS1 HERC2 HPS1 HPS4 HPS5 HPS6 HSPG2 IMPG1 IMPG2 IPW KANSL1 KCNAB2 LUZP1 LYST MAGEL2 MC1R MKRN3 MKRN3-AS1 MLPH MMP23B MYO5A MYO7A NDN NPAP1 OCA2 PCDH15 PDPN PDZD7 PITX2 PRDM16 PRKCZ PRPH2 PWAR1 PWRN1 RAB27A RERE SKI SLC45A2 SNORD115-1 SNORD116-1 SNRPN SOX10 SPEN TRNS2 TYR TYRP1 UBE3A UBE4B USH1C USH1G USH2A WHRN XYLT2

Diseases (45) :ORPHA:231178 OMIM:608233 OMIM:617050 ORPHA:1000 ORPHA:54 ORPHA:231183 ORPHA:411515 ORPHA:99000 OMIM:614077 OMIM:619172 OMIM:614171 ORPHA:1606 ORPHA:231169 OMIM:614076 OMIM:242840 OMIM:300500 OMIM:176270 OMIM:203300 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:610443 ORPHA:352723 ORPHA:167 OMIM:214500 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:79432 ORPHA:79478 ORPHA:79476 ORPHA:98794 OMIM:137600 ORPHA:79477 ORPHA:79435 ORPHA:177907 OMIM:611584 OMIM:203100 ORPHA:79431 ORPHA:79434 ORPHA:79433 ORPHA:411511 ORPHA:98795 ORPHA:85194

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen