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 anterior eye segment morphology (HP:0004328)

Parent Node:
Abnormal lens morphology (HP:0000517)

..Starting node
..Abnormality of lens shape (HP:0011526)

Term ID:

11526

Name:

Abnormality of lens shape

Synonym:

Abnormality of lens shape

Definition:

An abnormal shape of the lens.

Comments:

Reference:

HP:0011526

Genes and Diseases:

Child Nodes:

........

Lenticonus (HP:0001142)

................... HP:0011501 Anterior lenticonus
................... HP:0011502 Posterior lenticonus

........

Lentiglobus (HP:0011527)

Sister Nodes:

Aplasia/Hypoplasia of the lens (HP:0008063)

Cataract (HP:0000518)

Ectopia lentis (HP:0001083)

Phakodonesis (HP:0012629)

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:0011526	HP:0011526	Abnormality of lens shape	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0011526	HP:0011526	Abnormality of lens shape	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0011526	HP:0011526	Abnormality of lens shape	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant		161
HP:0011526	HP:0011526	Abnormality of lens shape	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive		161
HP:0011526	HP:0011526	Abnormality of lens shape	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive		174
HP:0011526	HP:0011526	Abnormality of lens shape	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked		678
HP:0011526	HP:0011526	Abnormality of lens shape	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0011526	HP:0011526	Abnormality of lens shape	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0011526	HP:0011526	Abnormality of lens shape	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0011526	HP:0011526	Abnormality of lens shape	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0011526	HP:0011526	Abnormality of lens shape	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0011526	HP:0011526	Abnormality of lens shape	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0011526	HP:0011526	Abnormality of lens shape	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0011526	HP:0011526	Abnormality of lens shape	0	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma		123
HP:0011526	HP:0011526	Abnormality of lens shape	0	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3		123
HP:0011526	HP:0011526	Abnormality of lens shape	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011526	HP:0011526	Abnormality of lens shape	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens		159
HP:0011526	HP:0011526	Abnormality of lens shape	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens		32
HP:0011526	HP:0011526	Abnormality of lens shape	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens		107
HP:0011526	HP:0011526	Abnormality of lens shape	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens		47
HP:0011526	HP:0034375	Spherophakia	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0011526	HP:0034375	Spherophakia	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0011526	HP:0001142	Lenticonus	1	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0011526	HP:0001142	Lenticonus	1	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive		161
HP:0011526	HP:0001142	Lenticonus	1	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive		174
HP:0011526	HP:0001142	Lenticonus	1	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0011526	HP:0001142	Lenticonus	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0011526	HP:0001142	Lenticonus	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0011526	HP:0011527	Lentiglobus	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0011526	HP:0011527	Lentiglobus	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0011526	HP:0034375	Spherophakia	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0011526	HP:0034375	Spherophakia	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0011526	HP:0001142	Lenticonus	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0011526	HP:0034375	Spherophakia	1	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma		123
HP:0011526	HP:0034375	Spherophakia	1	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3		123
HP:0011526	HP:0011527	Lentiglobus	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0011526	HP:0001142	Lenticonus	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	159
HP:0011526	HP:0001142	Lenticonus	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	32
HP:0011526	HP:0001142	Lenticonus	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	107
HP:0011526	HP:0001142	Lenticonus	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040283 - Occasional	47
HP:0011526	HP:0030961	Microspherophakia	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0011526	HP:0011501	Anterior lenticonus	2	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.	161
HP:0011526	HP:0011501	Anterior lenticonus	2	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.	174
HP:0011526	HP:0011501	Anterior lenticonus	2	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.	678
HP:0011526	HP:0011501	Anterior lenticonus	2	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	678
HP:0011526	HP:0011501	Anterior lenticonus	2	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040283 - Occasional	18
HP:0011526	HP:0030961	Microspherophakia	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0011526	HP:0030961	Microspherophakia	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0011526	HP:0011502	Posterior lenticonus	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92
HP:0011526	HP:0030961	Microspherophakia	2	LTBP2 CL E G H	4053	6715	OMIM:251750	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	.	123
HP:0011526	HP:0030961	Microspherophakia	2	LTBP2 CL E G H	4053	6715	OMIM:614819	Weill-Marchesani syndrome 3	.	123

Genes (16) :ADAMTS10 ASPH COL4A3 COL4A4 COL4A5 COL4A6 ERCC6 ERCC8 FBN1 LAMB2 LTBP2 OCRL PRPH2 RDH5 RHO RLBP1

Diseases (14) :OMIM:277600 OMIM:601552 OMIM:104200 OMIM:203780 OMIM:301050 ORPHA:1018 ORPHA:90324 OMIM:154700 OMIM:608328 OMIM:609049 OMIM:251750 OMIM:614819 ORPHA:534 ORPHA:52427

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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