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:
Abnormality of refraction (HP:0000539)

Parent Node:
Myopia (HP:0000545)

..Starting node
..High myopia (HP:0011003)

Term ID:

11003

Name:

High myopia

Synonym:

Severe myopia; Severe myopia (> -6.00 diopters); Severe near sightedness; Severely close sighted; Severely near sighted

Definition:

A severe form of myopia with greater than -6.00 diopters.

Comments:

Reference:

HP:0011003

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axial myopia (HP:0031730)

Latent myopia (HP:0500066)

Mild myopia (HP:0025573)

Moderate myopia (HP:0031624)

obsolete Congenital myopia (HP:0008012)

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:0011003	HP:0011003	High myopia	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent	63
HP:0011003	HP:0011003	High myopia	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:0011003	HP:0011003	High myopia	0	ADAMTSL4 CL E G H	54507	19706	OMIM:225200	Ectopia lentis et pupillae	HP:0040283 - Occasional	84
HP:0011003	HP:0011003	High myopia	0	ARR3 CL E G H	407	710	OMIM:301010	MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP26		1
HP:0011003	HP:0011003	High myopia	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0011003	HP:0011003	High myopia	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0011003	HP:0011003	High myopia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0011003	HP:0011003	High myopia	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0011003	HP:0011003	High myopia	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0011003	HP:0011003	High myopia	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0011003	HP:0011003	High myopia	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0011003	HP:0011003	High myopia	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0011003	HP:0011003	High myopia	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.	194
HP:0011003	HP:0011003	High myopia	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent	215
HP:0011003	HP:0011003	High myopia	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0011003	HP:0011003	High myopia	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0011003	HP:0011003	High myopia	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0011003	HP:0011003	High myopia	0	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V	.	110
HP:0011003	HP:0011003	High myopia	0	COL9A3 CL E G H	1299	2219	OMIM:620022			137
HP:0011003	HP:0011003	High myopia	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0011003	HP:0011003	High myopia	0	CPSF1 CL E G H	29894	2324	OMIM:618827	MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0011003	HP:0011003	High myopia	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies	.	4
HP:0011003	HP:0011003	High myopia	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional	101
HP:0011003	HP:0011003	High myopia	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	HP:0040283 - Occasional	126
HP:0011003	HP:0011003	High myopia	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040283 - Occasional	108
HP:0011003	HP:0011003	High myopia	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0011003	HP:0011003	High myopia	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0011003	HP:0011003	High myopia	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional	54
HP:0011003	HP:0011003	High myopia	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0011003	HP:0011003	High myopia	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional	62
HP:0011003	HP:0011003	High myopia	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	12
HP:0011003	HP:0011003	High myopia	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0011003	HP:0011003	High myopia	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0011003	HP:0011003	High myopia	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent	1361
HP:0011003	HP:0011003	High myopia	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0011003	HP:0011003	High myopia	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	HP:0040283 - Occasional	145
HP:0011003	HP:0011003	High myopia	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0011003	HP:0011003	High myopia	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0011003	HP:0011003	High myopia	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0011003	HP:0011003	High myopia	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0011003	HP:0011003	High myopia	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0011003	HP:0011003	High myopia	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0011003	HP:0011003	High myopia	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0011003	HP:0011003	High myopia	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0011003	HP:0011003	High myopia	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0011003	HP:0011003	High myopia	0	LOXL3 CL E G H	84695	13869	OMIM:619781	MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28		4
HP:0011003	HP:0011003	High myopia	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0011003	HP:0011003	High myopia	0	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive		4
HP:0011003	HP:0011003	High myopia	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040281 - Very frequent	123
HP:0011003	HP:0011003	High myopia	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types		21
HP:0011003	HP:0011003	High myopia	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040283 - Occasional	47
HP:0011003	HP:0011003	High myopia	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0011003	HP:0011003	High myopia	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0011003	HP:0011003	High myopia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0011003	HP:0011003	High myopia	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0011003	HP:0011003	High myopia	0	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.	42
HP:0011003	HP:0011003	High myopia	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	.	5
HP:0011003	HP:0011003	High myopia	0	P4HA2 CL E G H	8974	8547	OMIM:617238	Myopia 25, autosomal dominant	.	3
HP:0011003	HP:0011003	High myopia	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0011003	HP:0011003	High myopia	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0011003	HP:0011003	High myopia	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A		14
HP:0011003	HP:0011003	High myopia	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20		3
HP:0011003	HP:0011003	High myopia	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0011003	HP:0011003	High myopia	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0011003	HP:0011003	High myopia	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	58
HP:0011003	HP:0011003	High myopia	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.	6
HP:0011003	HP:0011003	High myopia	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0011003	HP:0011003	High myopia	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040283 - Occasional	43
HP:0011003	HP:0011003	High myopia	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked		45
HP:0011003	HP:0011003	High myopia	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3		200
HP:0011003	HP:0011003	High myopia	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0011003	HP:0011003	High myopia	0	SCO2 CL E G H	9997	10604	OMIM:608908	Myopia 6		40
HP:0011003	HP:0011003	High myopia	0	SLC39A5 CL E G H	283375	20502	OMIM:615946	Myopia 24, autosomal dominant		2
HP:0011003	HP:0011003	High myopia	0	SLITRK6 CL E G H	84189	23503	OMIM:221200	Deafness and myopia	.	4
HP:0011003	HP:0011003	High myopia	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0011003	HP:0011003	High myopia	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0011003	HP:0011003	High myopia	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.	271
HP:0011003	HP:0011003	High myopia	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040283 - Occasional	58
HP:0011003	HP:0011003	High myopia	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.	41
HP:0011003	HP:0011003	High myopia	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19		9
HP:0011003	HP:0011003	High myopia	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0011003	HP:0011003	High myopia	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0011003	HP:0011003	High myopia	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	397
HP:0011003	HP:0011003	High myopia	0	ZNF644 CL E G H	84146	29222	OMIM:614167	Myopia 21, autosomal dominant	.	5

Genes (77) :ADAMTS10 ADAMTSL4 ARR3 ASPH ASXL1 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 BAP1 CNGB3 COL11A1 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 COX7B CPSF1 CRIPT CYP1B1 CYP4V2 DAG1 DOHH DPH5 EFEMP1 EFL1 ELOVL4 ERBB3 FBN1 FGFR3 GLRA2 GZF1 HCCS HERC1 HS6ST2 IPO8 IRX5 KAT5 LAMB2 LOXL3 LRP2 LRPAP1 LTBP2 MAF MYOC NDP NDUFB11 NFIX NMNAT1 NYX P3H2 P4HA2 PAK2 PAX2 PDE6H POC1B POLR3B POMGNT1 PRDM5 RAB28 RIN2 RP2 RPGR RPL10 SCO2 SLC39A5 SLITRK6 SMS TBC1D24 TGFBI TTC8 TTLL5 VPS50 ZNF408 ZNF469 ZNF644

Diseases (75) :ORPHA:3449 OMIM:277600 OMIM:225200 OMIM:301010 OMIM:601552 ORPHA:97297 ORPHA:357074 ORPHA:2834 ORPHA:79332 OMIM:619762 OMIM:262300 ORPHA:440354 OMIM:267750 ORPHA:485 OMIM:614134 OMIM:614284 OMIM:620022 OMIM:309801 OMIM:618827 OMIM:615789 ORPHA:98977 OMIM:210370 ORPHA:370997 OMIM:620066 OMIM:620070 OMIM:617941 OMIM:614457 OMIM:607598 OMIM:616914 ORPHA:284979 OMIM:608328 OMIM:616482 OMIM:301076 OMIM:617662 ORPHA:457359 OMIM:301025 OMIM:619472 OMIM:611174 OMIM:619103 OMIM:609049 OMIM:619781 OMIM:222448 OMIM:615431 OMIM:610202 OMIM:305390 OMIM:602535 OMIM:619260 OMIM:310500 OMIM:614292 OMIM:617238 OMIM:618458 OMIM:120330 OMIM:610024 OMIM:615973 OMIM:614381 OMIM:613157 ORPHA:90354 OMIM:615374 OMIM:613075 ORPHA:217335 OMIM:312600 OMIM:300029 OMIM:300998 OMIM:608908 OMIM:615946 OMIM:221200 OMIM:309583 ORPHA:3063 OMIM:220500 ORPHA:98964 OMIM:613464 OMIM:615860 OMIM:619685 OMIM:616469 OMIM:614167

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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