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 eye physiology (HP:0012373)

Parent Node:
Abnormality of refraction (HP:0000539)

..Starting node
..Myopia (HP:0000545)

Term ID:

545

Name:

Myopia

Synonym:

Close sighted; Near sighted; Near sightedness; Nearsightedness

Definition:

An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.

Comments:

Reference:

HP:0000545

Genes and Diseases:

Child Nodes:

........

Congenital myopia (HP:0008012)

........

High myopia (HP:0011003)

........

Mild myopia (HP:0025573)

........

Moderate myopia (HP:0031624)

........

Axial myopia (HP:0031730)

........

Latent myopia (HP:0500066)

Sister Nodes:

Anisometropia (HP:0012803)

Astigmatism (HP:0000483)

Hypermetropia (HP:0000540)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000545	HP:0000545	Myopia	0	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	1	380	821	57	603234
HP:0000545	HP:0000545	Myopia	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	380	821	57	603234
HP:0000545	HP:0000545	Myopia	0	ACOX1 CL E G H	51	2971				ORPHA	1	26	257	119	609751
HP:0000545	HP:0000545	Myopia	0	ADAMTS17 CL E G H	170691	613195	Weill-Marchesani-like syndrome	613195	C2750787	OMIM	1	8	482	17109	607511
HP:0000545	HP:0000545	Myopia	0	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	12	577	218	604539
HP:0000545	HP:0000545	Myopia	0	ADAMTSL1 CL E G H	92949	521445				ORPHA	1	3	108	14632	609198
HP:0000545	HP:0000545	Myopia	0	ADGRV1 CL E G H	84059	231178				ORPHA	1	249	1479	17416	602851
HP:0000545	HP:0000545	Myopia	0	AGBL5 CL E G H	60509	617023	Retinitis pigmentosa 75	617023	C4310759	OMIM	1	9	114	26147	615900
HP:0000545	HP:0000545	Myopia	0	AGK CL E G H	55750	1369				ORPHA	1	27	186	21869	610345
HP:0000545	HP:0000545	Myopia	0	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	186	21869	610345
HP:0000545	HP:0000545	Myopia	0	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	12	269	391	164730
HP:0000545	HP:0000545	Myopia	0	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	33	252	9722	138250
HP:0000545	HP:0000545	Myopia	0	ALDH3A2 CL E G H	224	816				ORPHA	1	111	308	403	609523
HP:0000545	HP:0000545	Myopia	0	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	3	51	649	600820
HP:0000545	HP:0000545	Myopia	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	575	18040	614556
HP:0000545	HP:0000545	Myopia	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	199	18318	612990
HP:0000545	HP:0000545	Myopia	0	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	17	186	25567	612316
HP:0000545	HP:0000545	Myopia	0	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	56	309	18481	611716
HP:0000545	HP:0000545	Myopia	0	B3GALNT2 CL E G H	148789	588				ORPHA	1	16	221	28596	610194
HP:0000545	HP:0000545	Myopia	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	16	221	28596	610194
HP:0000545	HP:0000545	Myopia	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	40	232	17978	615291
HP:0000545	HP:0000545	Myopia	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	181	20207	610308
HP:0000545	HP:0000545	Myopia	0	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	309	966	209901
HP:0000545	HP:0000545	Myopia	0	BCL11B CL E G H	64919	618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	618092	CN253429	OMIM	1	12	65	13222	606558
HP:0000545	HP:0000545	Myopia	0	BFSP2 CL E G H	8419	611597	Cataract 12, multiple types	611597	C3808115	OMIM	1	7	64	1041	603212
HP:0000545	HP:0000545	Myopia	0	BLOC1S3 CL E G H	388552	614077	Hermansky-Pudlak syndrome 8	614077	C3888026	OMIM	1	4	29	20914	609762
HP:0000545	HP:0000545	Myopia	0	BPTF CL E G H	2186	529962				ORPHA	1	14	80	3581	601819
HP:0000545	HP:0000545	Myopia	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	68	490	1097	164757
HP:0000545	HP:0000545	Myopia	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	68	490	1097	164757
HP:0000545	HP:0000545	Myopia	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	68	490	1097	164757
HP:0000545	HP:0000545	Myopia	0	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	8	125	29521	615140
HP:0000545	HP:0000545	Myopia	0	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1	17	119	27232	614477
HP:0000545	HP:0000545	Myopia	0	CACNA1F CL E G H	778	178333				ORPHA	1	185	408	1393	300110
HP:0000545	HP:0000545	Myopia	0	CACNA1F CL E G H	778	300476	Cone-rod dystrophy X-linked 3	300476	C1845407	OMIM	1	185	408	1393	300110
HP:0000545	HP:0000545	Myopia	0	CACNA1F CL E G H	778	300600	Ocular albinism, type II	300600	C0268505	OMIM	1	185	408	1393	300110
HP:0000545	HP:0000545	Myopia	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	28	166	19721	613165
HP:0000545	HP:0000545	Myopia	0	CASK CL E G H	8573	163937				ORPHA	1	119	446	1497	300172
HP:0000545	HP:0000545	Myopia	0	CBS CL E G H	875	394				ORPHA	1	214	611	1550	613381
HP:0000545	HP:0000545	Myopia	0	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	19	398	1739	603465
HP:0000545	HP:0000545	Myopia	0	CHM CL E G H	1121	180				ORPHA	1	288	348	1940	300390
HP:0000545	HP:0000545	Myopia	0	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	3	106	8740	164010
HP:0000545	HP:0000545	Myopia	0	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	22	96	24464	608429
HP:0000545	HP:0000545	Myopia	0	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	65	188	2037	603959
HP:0000545	HP:0000545	Myopia	0	CLDN19 CL E G H	149461	2196	Esophageal atresia coloboma talipes			ORPHA	1	21	96	2040	610036
HP:0000545	HP:0000545	Myopia	0	CLDN19 CL E G H	149461	248190	Hypomagnesemia 5, renal, with ocular involvement	248190	C1855466	OMIM	1	21	96	2040	610036
HP:0000545	HP:0000545	Myopia	0	COL11A1 CL E G H	1301	250984				ORPHA	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	0	COL11A1 CL E G H	1301	90654				ORPHA	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	0	COL11A1 CL E G H	1301	560				ORPHA	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	0	COL11A1 CL E G H	1301	604841	Stickler syndrome, type 2	604841	C1858084	OMIM	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	0	COL11A2 CL E G H	1302	3450	Mehta Lewis Patton syndrome			ORPHA	1	59	471	2187	120290
HP:0000545	HP:0000545	Myopia	0	COL18A1 CL E G H	80781	1571				ORPHA	1	36	447	2195	120328
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	485				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	93346				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	90653				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	93316				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	166011				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	132450	C1851536	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	156550	Kniest dysplasia	156550	C0265279	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	3450	Mehta Lewis Patton syndrome			ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	184250	Spondylometaphyseal dysplasia	184250	C0700635	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	609508	Stickler syndrome, type I, nonsyndromic ocular	609508	C1836080	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL4A3 CL E G H	1285	104200	Alport syndrome, autosomal dominant	104200	C1567743	OMIM	1	272	613	2204	120070
HP:0000545	HP:0000545	Myopia	0	COL4A3 CL E G H	1285	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	272	613	2204	120070
HP:0000545	HP:0000545	Myopia	0	COL4A4 CL E G H	1286	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	233	688	2206	120131
HP:0000545	HP:0000545	Myopia	0	COL4A5 CL E G H	1287	301050	Alport syndrome, X-linked recessive	301050	C1567742	OMIM	1	1000	1357	2207	303630
HP:0000545	HP:0000545	Myopia	0	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	159	1630	2209	120215
HP:0000545	HP:0000545	Myopia	0	COL9A1 CL E G H	1297	250984				ORPHA	1	6	281	2217	120210
HP:0000545	HP:0000545	Myopia	0	COL9A2 CL E G H	1298	250984				ORPHA	1	13	215	2218	120260
HP:0000545	HP:0000545	Myopia	0	COL9A3 CL E G H	1299	250984				ORPHA	1	17	184	2219	120270
HP:0000545	HP:0000545	Myopia	0	CRYAA CL E G H	1409	1377				ORPHA	1	27	129	2388	123580
HP:0000545	HP:0000545	Myopia	0	CRYBA4 CL E G H	1413	1377				ORPHA	1	10	84	2396	123631
HP:0000545	HP:0000545	Myopia	0	CRYBB1 CL E G H	1414	1377				ORPHA	1	20	65	2397	600929
HP:0000545	HP:0000545	Myopia	0	CRYBB2 CL E G H	1415	1377				ORPHA	1	27	53	2398	123620
HP:0000545	HP:0000545	Myopia	0	CRYGC CL E G H	1420	1377				ORPHA	1	28	50	2410	123680
HP:0000545	HP:0000545	Myopia	0	CRYGD CL E G H	1421	1377				ORPHA	1	27	73	2411	123690
HP:0000545	HP:0000545	Myopia	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	11	301	2666	128239
HP:0000545	HP:0000545	Myopia	0	DEAF1 CL E G H	10522	819				ORPHA	1	17	129	14677	602635
HP:0000545	HP:0000545	Myopia	0	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	11	60	27030	617048
HP:0000545	HP:0000545	Myopia	0	DPYD CL E G H	1806	293948				ORPHA	1	124	285	3012	612779
HP:0000545	HP:0000545	Myopia	0	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	9	49	3188	605984
HP:0000545	HP:0000545	Myopia	0	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	5	178	3267	300161
HP:0000545	HP:0000545	Myopia	0	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	1	7	120	28957	616846
HP:0000545	HP:0000545	Myopia	0	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	1	77	274	3356	173335
HP:0000545	HP:0000545	Myopia	0	EPHA2 CL E G H	1969	116600	Cataract 6, multiple types	116600	C1861825	OMIM	1	22	171	3386	176946
HP:0000545	HP:0000545	Myopia	0	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	2	59	17097	602238
HP:0000545	HP:0000545	Myopia	0	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	45	521	25568	611360
HP:0000545	HP:0000545	Myopia	0	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	2721	4284	3603	134797
HP:0000545	HP:0000545	Myopia	0	FBN2 CL E G H	2201	121050	Congenital contractural arachnodactyly	121050	C0220668	OMIM	1	113	1402	3604	612570
HP:0000545	HP:0000545	Myopia	0	FKBP14 CL E G H	55033	300179				ORPHA	1	6	86	18625	614505
HP:0000545	HP:0000545	Myopia	0	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	6	86	18625	614505
HP:0000545	HP:0000545	Myopia	0	FKRP CL E G H	79147	588				ORPHA	1	141	402	17997	606596
HP:0000545	HP:0000545	Myopia	0	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	141	402	17997	606596
HP:0000545	HP:0000545	Myopia	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	141	402	17997	606596
HP:0000545	HP:0000545	Myopia	0	FKTN CL E G H	2218	588				ORPHA	1	59	450	3622	607440
HP:0000545	HP:0000545	Myopia	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	59	450	3622	607440
HP:0000545	HP:0000545	Myopia	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	59	450	3622	607440
HP:0000545	HP:0000545	Myopia	0	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	59	450	3622	607440
HP:0000545	HP:0000545	Myopia	0	FLII CL E G H	2314	819				ORPHA	1	2	153	3750	600362
HP:0000545	HP:0000545	Myopia	0	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	109	141	4274	121014
HP:0000545	HP:0000545	Myopia	0	GJA1 CL E G H	2697	257850	Oculodentodigital dysplasia, autosomal recessive	257850	C2749477	OMIM	1	109	141	4274	121014
HP:0000545	HP:0000545	Myopia	0	GJA8 CL E G H	2703	1377				ORPHA	1	63	347	4281	600897
HP:0000545	HP:0000545	Myopia	0	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	57	133	17494	608803
HP:0000545	HP:0000545	Myopia	0	GLRB CL E G H	2743	614619	Hyperekplexia 2	614619	C3553291	OMIM	1	19	125	4329	138492
HP:0000545	HP:0000545	Myopia	0	GMPPB CL E G H	29925	588				ORPHA	1	49	151	22932	615320
HP:0000545	HP:0000545	Myopia	0	GNPTG CL E G H	84572	252605	Mucolipidosis III Gamma	252605	C1854896	OMIM	1	49	271	23026	607838
HP:0000545	HP:0000545	Myopia	0	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	11	77	4446	603048
HP:0000545	HP:0000545	Myopia	0	GPR179 CL E G H	440435	614565	Congenital stationary night blindness, type 1E	614565	C3281215	OMIM	1	16	231	31371	614515
HP:0000545	HP:0000545	Myopia	0	GRM6 CL E G H	2916	257270	Congenital stationary night blindness, type 1B	257270	C1850362	OMIM	1	38	226	4598	604096
HP:0000545	HP:0000545	Myopia	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	5	21	4670	607434
HP:0000545	HP:0000545	Myopia	0	HACE1 CL E G H	57531	464282				ORPHA	1	13	63	21033	610876
HP:0000545	HP:0000545	Myopia	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	227	13315	300269
HP:0000545	HP:0000545	Myopia	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	56	227	13315	300269
HP:0000545	HP:0000545	Myopia	0	HSPG2 CL E G H	3339	800				ORPHA	1	67	862	5273	142461
HP:0000545	HP:0000545	Myopia	0	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	67	862	5273	142461
HP:0000545	HP:0000545	Myopia	0	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	28	286	18873	606951
HP:0000545	HP:0000545	Myopia	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	23	199	13556	606045
HP:0000545	HP:0000545	Myopia	0	IQSEC2 CL E G H	23096	819				ORPHA	1	57	539	29059	300522
HP:0000545	HP:0000545	Myopia	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	620	645	6188	601920
HP:0000545	HP:0000545	Myopia	0	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	13	91	6250	603305
HP:0000545	HP:0000545	Myopia	0	KCNV2 CL E G H	169522	610356	Retinal cone dystrophy 3B	610356	C1835897	OMIM	1	94	397	19698	607604
HP:0000545	HP:0000545	Myopia	0	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	33	58	18039	605393
HP:0000545	HP:0000545	Myopia	0	KDM5C CL E G H	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	300534	C1845243	OMIM	1	56	327	11114	314690
HP:0000545	HP:0000545	Myopia	0	KIF11 CL E G H	3832	2526				ORPHA	1	70	172	6388	148760
HP:0000545	HP:0000545	Myopia	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	379	7132	159555
HP:0000545	HP:0000545	Myopia	0	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	45	274	6407	190070
HP:0000545	HP:0000545	Myopia	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	45	274	6407	190070
HP:0000545	HP:0000545	Myopia	0	LAMA1 CL E G H	284217	615960	Poretti-Boltshauser syndrome	615960	C4014821	OMIM	1	43	349	6481	150320
HP:0000545	HP:0000545	Myopia	0	LAMB2 CL E G H	3913	614199	Nephrotic syndrome, type 5, with or without ocular abnormalities	614199	C3280113	OMIM	1	127	368	6487	150325
HP:0000545	HP:0000545	Myopia	0	LARGE1 CL E G H	9215	588				ORPHA	1	28	406	6511	603590
HP:0000545	HP:0000545	Myopia	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	28	406	6511	603590
HP:0000545	HP:0000545	Myopia	0	LRIT3 CL E G H	345193	615058	Congenital stationary night blindness, type 1F	615058	C3554399	OMIM	1	9	145	24783	615004
HP:0000545	HP:0000545	Myopia	0	LRP2 CL E G H	4036	2143	Junctional epidermolysis bullosa inversa			ORPHA	1	46	600	6694	600073
HP:0000545	HP:0000545	Myopia	0	LTBP2 CL E G H	4053	251750	Microspherophakia	251750	C1562061	OMIM	1	29	299	6715	602091
HP:0000545	HP:0000545	Myopia	0	LTBP2 CL E G H	4053	614819	Weill-Marchesani syndrome 3	614819	C3553785	OMIM	1	29	299	6715	602091
HP:0000545	HP:0000545	Myopia	0	MAF CL E G H	4094	1377				ORPHA	1	22	172	6776	177075
HP:0000545	HP:0000545	Myopia	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	20	453	6814	605283
HP:0000545	HP:0000545	Myopia	0	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	23	213	6840	176872
HP:0000545	HP:0000545	Myopia	0	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	23	213	6840	176872
HP:0000545	HP:0000545	Myopia	0	MAP2K2 CL E G H	5605	615280	Cardiofaciocutaneous syndrome 4	615280	C3809007	OMIM	1	35	338	6842	601263
HP:0000545	HP:0000545	Myopia	0	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	35	338	6842	601263
HP:0000545	HP:0000545	Myopia	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	91	664	20444	611472
HP:0000545	HP:0000545	Myopia	0	MYO5A CL E G H	4644	33445				ORPHA	1	12	116	7602	160777
HP:0000545	HP:0000545	Myopia	0	MYO7A CL E G H	4647	231178				ORPHA	1	527	1257	7606	276903
HP:0000545	HP:0000545	Myopia	0	MYOC CL E G H	4653	137750	Primary open angle glaucoma juvenile onset 1	137750	C1842028	OMIM	1	143	103	7610	601652
HP:0000545	HP:0000545	Myopia	0	NDUFB11 CL E G H	54539	300952	Linear skin defects with multiple congenital anomalies 3	300952	C4225421	OMIM	1	6	163	20372	300403
HP:0000545	HP:0000545	Myopia	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	437	809	28862	608667
HP:0000545	HP:0000545	Myopia	0	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	809	28862	608667
HP:0000545	HP:0000545	Myopia	0	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	4	168	7871	300084
HP:0000545	HP:0000545	Myopia	0	NSD1 CL E G H	64324	228415				ORPHA	1	525	896	14234	606681
HP:0000545	HP:0000545	Myopia	0	NT5C2 CL E G H	22978	613162	Spastic paraplegia 45, autosomal recessive	613162	C3888209	OMIM	1	8	100	8022	600417
HP:0000545	HP:0000545	Myopia	0	NYX CL E G H	60506	310500	Congenital stationary night blindness, type 1A	310500	C3495587	OMIM	1	91	256	8082	300278
HP:0000545	HP:0000545	Myopia	0	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	72	217	8091	613349
HP:0000545	HP:0000545	Myopia	0	OCA2 CL E G H	4948	203200	Tyrosinase-positive oculocutaneous albinism	203200	C0268495	OMIM	1	316	538	8101	611409
HP:0000545	HP:0000545	Myopia	0	OPN1LW CL E G H	5956	303700	Cone monochromatism	303700	C0339537	OMIM	1	63	250	9936	300822
HP:0000545	HP:0000545	Myopia	0	OPN1MW CL E G H	2652	303700	Cone monochromatism	303700	C0339537	OMIM	1	21	240	4206	300821
HP:0000545	HP:0000545	Myopia	0	OPTN CL E G H	10133	137760	Primary open angle glaucoma	137760	C0339573	OMIM	1	72	158	17142	602432
HP:0000545	HP:0000545	Myopia	0	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	2	91	30032	607492
HP:0000545	HP:0000545	Myopia	0	PACS2 CL E G H	23241	618067	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66	618067	CN252658	OMIM	1	2	92	23794	610423
HP:0000545	HP:0000545	Myopia	0	PAX2 CL E G H	5076	1475	Congenital bronchobiliary fistula			ORPHA	1	98	93	8616	167409
HP:0000545	HP:0000545	Myopia	0	PCYT1A CL E G H	5130	85167				ORPHA	1	20	143	8754	123695
HP:0000545	HP:0000545	Myopia	0	PDZD7 CL E G H	79955	231178				ORPHA	1	19	205	26257	612971
HP:0000545	HP:0000545	Myopia	0	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	57	379	8975	171834
HP:0000545	HP:0000545	Myopia	0	PIK3R1 CL E G H	5295	269880	SHORT syndrome	269880	C0878684	OMIM	1	29	156	8979	171833
HP:0000545	HP:0000545	Myopia	0	PLOD1 CL E G H	5351	1900				ORPHA	1	42	440	9081	153454
HP:0000545	HP:0000545	Myopia	0	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	42	440	9081	153454
HP:0000545	HP:0000545	Myopia	0	PLOD3 CL E G H	8985	612394	Bone fragility with contractures, arterial rupture, and deafness	612394	C2676285	OMIM	1	3	91	9083	603066
HP:0000545	HP:0000545	Myopia	0	POGZ CL E G H	23126	616364	White-sutton syndrome	616364	C4225351	OMIM	1	54	227	18801	614787
HP:0000545	HP:0000545	Myopia	0	POLR3A CL E G H	11128	447896				ORPHA	1	92	306	30074	614258
HP:0000545	HP:0000545	Myopia	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	92	306	30074	614258
HP:0000545	HP:0000545	Myopia	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	58	127	30348	614366
HP:0000545	HP:0000545	Myopia	0	POLR3B CL E G H	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	C3280644	OMIM	1	58	127	30348	614366
HP:0000545	HP:0000545	Myopia	0	POMGNT1 CL E G H	55624	588				ORPHA	1	89	461	19139	606822
HP:0000545	HP:0000545	Myopia	0	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	89	461	19139	606822
HP:0000545	HP:0000545	Myopia	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	89	461	19139	606822
HP:0000545	HP:0000545	Myopia	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	89	461	19139	606822
HP:0000545	HP:0000545	Myopia	0	POMT1 CL E G H	10585	588				ORPHA	1	96	508	9202	607423
HP:0000545	HP:0000545	Myopia	0	POMT1 CL E G H	10585	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	96	508	9202	607423
HP:0000545	HP:0000545	Myopia	0	POMT2 CL E G H	29954	588				ORPHA	1	75	502	19743	607439
HP:0000545	HP:0000545	Myopia	0	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	75	502	19743	607439
HP:0000545	HP:0000545	Myopia	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	75	502	19743	607439
HP:0000545	HP:0000545	Myopia	0	POMT2 CL E G H	29954	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	75	502	19743	607439
HP:0000545	HP:0000545	Myopia	0	PPP2R5D CL E G H	5528	616355	Mental retardation, autosomal dominant 35	616355	C4225354	OMIM	1	11	41	9312	601646
HP:0000545	HP:0000545	Myopia	0	PRDM5 CL E G H	11107	614170	Brittle cornea syndrome 2	614170	C3280011	OMIM	1	13	131	9349	614161
HP:0000545	HP:0000545	Myopia	0	PRIMPOL CL E G H	201973	615420	Myopia 22, autosomal dominant	615420	C3809464	OMIM	1	2	106	26575	615421
HP:0000545	HP:0000545	Myopia	0	PSMD12 CL E G H	5718	529962				ORPHA	1	10	35	9557	604450
HP:0000545	HP:0000545	Myopia	0	PTEN CL E G H	5728	2969				ORPHA	1	658	2019	9588	601728
HP:0000545	HP:0000545	Myopia	0	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	658	2019	9588	601728
HP:0000545	HP:0000545	Myopia	0	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	143	475	9644	176876
HP:0000545	HP:0000545	Myopia	0	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	13	149	9811	606462
HP:0000545	HP:0000545	Myopia	0	RAI1 CL E G H	10743	819				ORPHA	1	116	404	9834	607642
HP:0000545	HP:0000545	Myopia	0	RECQL4 CL E G H	9401	218600	Baller-Gerold syndrome	218600	C0265308	OMIM	1	122	2028	9949	603780
HP:0000545	HP:0000545	Myopia	0	RMRP CL E G H	6023	175				ORPHA	1	123	411	10031	157660
HP:0000545	HP:0000545	Myopia	0	RP1 CL E G H	6101	180100	Retinitis pigmentosa 1	180100	C0220701	OMIM	1	190	458	10263	603937
HP:0000545	HP:0000545	Myopia	0	RP2 CL E G H	6102	312600	Retinitis pigmentosa 2	312600	C2681923	OMIM	1	121	289	10274	300757
HP:0000545	HP:0000545	Myopia	0	RPGR CL E G H	6103	304020	Cone-rod dystrophy, X-linked 1	304020	C1844776	OMIM	1	245	662	10295	312610
HP:0000545	HP:0000545	Myopia	0	RPL10 CL E G H	6134	300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35	300998	C4478383	OMIM	1	6	242	10298	312173
HP:0000545	HP:0000545	Myopia	0	SCO2 CL E G H	9997	608908	Myopia 6	608908	C1837148	OMIM	1	37	275	10604	604272
HP:0000545	HP:0000545	Myopia	0	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	38	236	25566	615743
HP:0000545	HP:0000545	Myopia	0	SETD5 CL E G H	55209	615761	Mental retardation, autosomal dominant 23	615761	C3810406	OMIM	1	38	236	25566	615743
HP:0000545	HP:0000545	Myopia	0	SLC25A4 CL E G H	291	1369				ORPHA	1	17	234	10990	103220
HP:0000545	HP:0000545	Myopia	0	SLC39A5 CL E G H	283375	615946	Myopia 24, autosomal dominant	615946	C4014762	OMIM	1	8	19	20502	608730
HP:0000545	HP:0000545	Myopia	0	SMARCAL1 CL E G H	50485	242900	Schimke immunoosseous dysplasia	242900	C0877024	OMIM	1	88	244	11102	606622
HP:0000545	HP:0000545	Myopia	0	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	100	484	11111	300040
HP:0000545	HP:0000545	Myopia	0	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	28	213	2468	606062
HP:0000545	HP:0000545	Myopia	0	SOX5 CL E G H	6660	313892				ORPHA	1	29	146	11201	604975
HP:0000545	HP:0000545	Myopia	0	SOX5 CL E G H	6660	616803	Lamb-shaffer syndrome	616803	C4225202	OMIM	1	29	146	11201	604975
HP:0000545	HP:0000545	Myopia	0	TCF4 CL E G H	6925	2896	Hypogonadism retinitis pigmentosa			ORPHA	1	148	624	11634	602272
HP:0000545	HP:0000545	Myopia	0	TCF4 CL E G H	6925	610954	Pitt-Hopkins syndrome	610954	C1970431	OMIM	1	148	624	11634	602272
HP:0000545	HP:0000545	Myopia	0	TEAD1 CL E G H	7003	108985	Sveinsson chorioretinal atrophy	108985	C1862382	OMIM	1	2	33	11714	189967
HP:0000545	HP:0000545	Myopia	0	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	44	82	11742	107580
HP:0000545	HP:0000545	Myopia	0	THOC6 CL E G H	79228	613680	Beaulieu-Boycott-Innes syndrome	613680	C3150939	OMIM	1	9	67	28369	615403
HP:0000545	HP:0000545	Myopia	0	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	22	185	11817	300356
HP:0000545	HP:0000545	Myopia	0	TMEM94 CL E G H	9772	618316	618316	618316		OMIM	1	3	28	28983	618163
HP:0000545	HP:0000545	Myopia	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	17	351	25751	614138
HP:0000545	HP:0000545	Myopia	0	TRIT1 CL E G H	54802	617873	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	617873	CN807948	OMIM	1	6	28	20286	617840
HP:0000545	HP:0000545	Myopia	0	TRNT1 CL E G H	51095	616959	Retinitis pigmentosa and erythrocytic microcytosis	616959	C4310776	OMIM	1	26	248	17341	612907
HP:0000545	HP:0000545	Myopia	0	TRPM1 CL E G H	4308	613216	Congenital stationary night blindness, type 1C	613216	C2750747	OMIM	1	84	530	7146	603576
HP:0000545	HP:0000545	Myopia	0	TUB CL E G H	7275	616188	Retinal dystrophy and obesity	616188	C4015424	OMIM	1	3	98	12406	601197
HP:0000545	HP:0000545	Myopia	0	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	75	208	12423	602280
HP:0000545	HP:0000545	Myopia	0	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	1	9	88	20670	607556
HP:0000545	HP:0000545	Myopia	0	TYR CL E G H	7299	203100	Tyrosinase-negative oculocutaneous albinism	203100	C0268494	OMIM	1	445	226	12442	606933
HP:0000545	HP:0000545	Myopia	0	UBE3A CL E G H	7337	105830	Angelman syndrome	105830	C0162635	OMIM	1	202	759	12496	601623
HP:0000545	HP:0000545	Myopia	0	UBE3B CL E G H	89910	2707				ORPHA	1	25	54	13478	608047
HP:0000545	HP:0000545	Myopia	0	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	1	25	54	13478	608047
HP:0000545	HP:0000545	Myopia	0	UCHL1 CL E G H	7345	615491	Spastic paraplegia 79, autosomal recessive	615491	C3809665	OMIM	1	6	59	12513	191342
HP:0000545	HP:0000545	Myopia	0	USH2A CL E G H	7399	231178				ORPHA	1	1234	2354	12601	608400
HP:0000545	HP:0000545	Myopia	0	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	1	28	269	12632	300072
HP:0000545	HP:0000545	Myopia	0	VARS CL E G H	7407	617802	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	617802	C4540493	OMIM	1	8		12651	192150
HP:0000545	HP:0000545	Myopia	0	VCAN CL E G H	1462	143200	Wagner syndrome	143200	C0339540	OMIM	1	24	439	2464	118661
HP:0000545	HP:0000545	Myopia	0	VPS13B CL E G H	157680	193				ORPHA	1	213	1606	2183	607817
HP:0000545	HP:0000545	Myopia	0	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	213	1606	2183	607817
HP:0000545	HP:0000545	Myopia	0	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	25	77	17327	615049
HP:0000545	HP:0000545	Myopia	0	WDR19 CL E G H	57728	614376	Asphyxiating thoracic dystrophy 5	614376	C3280598	OMIM	1	45	294	18340	608151
HP:0000545	HP:0000545	Myopia	0	WHRN CL E G H	25861	231178				ORPHA	1	32	348	16361	607928
HP:0000545	HP:0000545	Myopia	0	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	1	36	12843	607472
HP:0000545	HP:0000545	Myopia	0	ZNF408 CL E G H	79797	616468	Exudative vitreoretinopathy 6	616468	C4225316	OMIM	1	14	112	20041	616454
HP:0000545	HP:0000545	Myopia	0	ZNF469 CL E G H	84627	229200	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	229200	C0268344	OMIM	1	69	641	23216	612078
HP:0000545	HP:0000545	Myopia	1	ABCC6 CL E G H	368	758	Apo A-I deficiency			ORPHA	1	380	821	57	603234
HP:0000545	HP:0000545	Myopia	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	380	821	57	603234
HP:0000545	HP:0000545	Myopia	1	ACOX1 CL E G H	51	2971				ORPHA	1	26	257	119	609751
HP:0000545	HP:0000545	Myopia	1	ADAMTS17 CL E G H	170691	613195	Weill-Marchesani-like syndrome	613195	C2750787	OMIM	1	8	482	17109	607511
HP:0000545	HP:0000545	Myopia	1	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	12	577	218	604539
HP:0000545	HP:0000545	Myopia	1	ADAMTSL1 CL E G H	92949	521445				ORPHA	1	3	108	14632	609198
HP:0000545	HP:0000545	Myopia	1	ADGRV1 CL E G H	84059	231178				ORPHA	1	249	1479	17416	602851
HP:0000545	HP:0000545	Myopia	1	AGBL5 CL E G H	60509	617023	Retinitis pigmentosa 75	617023	C4310759	OMIM	1	9	114	26147	615900
HP:0000545	HP:0000545	Myopia	1	AGK CL E G H	55750	1369				ORPHA	1	27	186	21869	610345
HP:0000545	HP:0000545	Myopia	1	AGK CL E G H	55750	212350	Cataract and cardiomyopathy	212350	C1859317	OMIM	1	27	186	21869	610345
HP:0000545	HP:0000545	Myopia	1	AKT1 CL E G H	207	615109	Cowden syndrome 6	615109	C3554519	OMIM	1	12	269	391	164730
HP:0000545	HP:0000545	Myopia	1	ALDH18A1 CL E G H	5832	219150	Cutis laxa-corneal clouding-oligophrenia syndrome	219150	C0268354	OMIM	1	33	252	9722	138250
HP:0000545	HP:0000545	Myopia	1	ALDH3A2 CL E G H	224	816				ORPHA	1	111	308	403	609523
HP:0000545	HP:0000545	Myopia	1	ARCN1 CL E G H	372	617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	617164	C4310686	OMIM	1	3	51	649	600820
HP:0000545	HP:0000545	Myopia	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	575	18040	614556
HP:0000545	HP:0000545	Myopia	1	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	199	18318	612990
HP:0000545	HP:0000545	Myopia	1	ATAD3A CL E G H	55210	617183	Harel-Yoon syndrome	617183	C4310677	OMIM	1	17	186	25567	612316
HP:0000545	HP:0000545	Myopia	1	ATP6V0A2 CL E G H	23545	219200	Cutis laxa with osteodystrophy	219200	C0268355	OMIM	1	56	309	18481	611716
HP:0000545	HP:0000545	Myopia	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	16	221	28596	610194
HP:0000545	HP:0000545	Myopia	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	16	221	28596	610194
HP:0000545	HP:0000545	Myopia	1	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	40	232	17978	615291
HP:0000545	HP:0000545	Myopia	1	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	15	181	20207	610308
HP:0000545	HP:0000545	Myopia	1	BBS1 CL E G H	582	209900	Bardet-Biedl syndrome 1	209900	C2936862	OMIM	1	105	309	966	209901
HP:0000545	HP:0000545	Myopia	1	BCL11B CL E G H	64919	618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	618092	CN253429	OMIM	1	12	65	13222	606558
HP:0000545	HP:0000545	Myopia	1	BFSP2 CL E G H	8419	611597	Cataract 12, multiple types	611597	C3808115	OMIM	1	7	64	1041	603212
HP:0000545	HP:0000545	Myopia	1	BLOC1S3 CL E G H	388552	614077	Hermansky-Pudlak syndrome 8	614077	C3888026	OMIM	1	4	29	20914	609762
HP:0000545	HP:0000545	Myopia	1	BPTF CL E G H	2186	529962				ORPHA	1	14	80	3581	601819
HP:0000545	HP:0000545	Myopia	1	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	68	490	1097	164757
HP:0000545	HP:0000545	Myopia	1	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	68	490	1097	164757
HP:0000545	HP:0000545	Myopia	1	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	68	490	1097	164757
HP:0000545	HP:0000545	Myopia	1	C12orf57 CL E G H	113246	218340	Temtamy syndrome	218340	C1857512	OMIM	1	8	125	29521	615140
HP:0000545	HP:0000545	Myopia	1	C8orf37 CL E G H	157657	617406	Bardet-Biedl syndrome 21	617406	C4319932	OMIM	1	17	119	27232	614477
HP:0000545	HP:0000545	Myopia	1	CACNA1F CL E G H	778	178333				ORPHA	1	185	408	1393	300110
HP:0000545	HP:0000545	Myopia	1	CACNA1F CL E G H	778	300476	Cone-rod dystrophy X-linked 3	300476	C1845407	OMIM	1	185	408	1393	300110
HP:0000545	HP:0000545	Myopia	1	CACNA1F CL E G H	778	300600	Ocular albinism, type II	300600	C0268505	OMIM	1	185	408	1393	300110
HP:0000545	HP:0000545	Myopia	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	28	166	19721	613165
HP:0000545	HP:0000545	Myopia	1	CASK CL E G H	8573	163937				ORPHA	1	119	446	1497	300172
HP:0000545	HP:0000545	Myopia	1	CBS CL E G H	875	394				ORPHA	1	214	611	1550	613381
HP:0000545	HP:0000545	Myopia	1	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	19	398	1739	603465
HP:0000545	HP:0000545	Myopia	1	CHM CL E G H	1121	180				ORPHA	1	288	348	1940	300390
HP:0000545	HP:0000545	Myopia	1	CHMP1A CL E G H	5119	614961	Pontocerebellar hypoplasia type 8	614961	C3554209	OMIM	1	3	106	8740	164010
HP:0000545	HP:0000545	Myopia	1	CHST14 CL E G H	113189	601776	Ehlers-Danlos syndrome, musculocontractural type	601776	C1866294	OMIM	1	22	96	24464	608429
HP:0000545	HP:0000545	Myopia	1	CLDN16 CL E G H	10686	248250	Primary hypomagnesemia	248250	C0268448	OMIM	1	65	188	2037	603959
HP:0000545	HP:0000545	Myopia	1	CLDN19 CL E G H	149461	2196	Esophageal atresia coloboma talipes			ORPHA	1	21	96	2040	610036
HP:0000545	HP:0000545	Myopia	1	CLDN19 CL E G H	149461	248190	Hypomagnesemia 5, renal, with ocular involvement	248190	C1855466	OMIM	1	21	96	2040	610036
HP:0000545	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	90654				ORPHA	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	560				ORPHA	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	250984				ORPHA	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	1	COL11A1 CL E G H	1301	604841	Stickler syndrome, type 2	604841	C1858084	OMIM	1	106	560	2186	120280
HP:0000545	HP:0000545	Myopia	1	COL11A2 CL E G H	1302	3450	Mehta Lewis Patton syndrome			ORPHA	1	59	471	2187	120290
HP:0000545	HP:0000545	Myopia	1	COL18A1 CL E G H	80781	1571				ORPHA	1	36	447	2195	120328
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	485				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	93346				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	90653				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	93316				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	166011				ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	132450	C1851536	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	156550	Kniest dysplasia	156550	C0265279	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	3450	Mehta Lewis Patton syndrome			ORPHA	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	183900	Spondyloepiphyseal dysplasia	183900	C0038015	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	184250	Spondylometaphyseal dysplasia	184250	C0700635	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	108300	Stickler syndrome type 1	108300	C2020284	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	609508	Stickler syndrome, type I, nonsyndromic ocular	609508	C1836080	OMIM	1	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL4A3 CL E G H	1285	104200	Alport syndrome, autosomal dominant	104200	C1567743	OMIM	1	272	613	2204	120070
HP:0000545	HP:0000545	Myopia	1	COL4A3 CL E G H	1285	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	272	613	2204	120070
HP:0000545	HP:0000545	Myopia	1	COL4A4 CL E G H	1286	203780	Alport syndrome, autosomal recessive	203780	C1567744	OMIM	1	233	688	2206	120131
HP:0000545	HP:0000545	Myopia	1	COL4A5 CL E G H	1287	301050	Alport syndrome, X-linked recessive	301050	C1567742	OMIM	1	1000	1357	2207	303630
HP:0000545	HP:0000545	Myopia	1	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	159	1630	2209	120215
HP:0000545	HP:0000545	Myopia	1	COL9A1 CL E G H	1297	250984				ORPHA	1	6	281	2217	120210
HP:0000545	HP:0000545	Myopia	1	COL9A2 CL E G H	1298	250984				ORPHA	1	13	215	2218	120260
HP:0000545	HP:0000545	Myopia	1	COL9A3 CL E G H	1299	250984				ORPHA	1	17	184	2219	120270
HP:0000545	HP:0000545	Myopia	1	CRYAA CL E G H	1409	1377				ORPHA	1	27	129	2388	123580
HP:0000545	HP:0000545	Myopia	1	CRYBA4 CL E G H	1413	1377				ORPHA	1	10	84	2396	123631
HP:0000545	HP:0000545	Myopia	1	CRYBB1 CL E G H	1414	1377				ORPHA	1	20	65	2397	600929
HP:0000545	HP:0000545	Myopia	1	CRYBB2 CL E G H	1415	1377				ORPHA	1	27	53	2398	123620
HP:0000545	HP:0000545	Myopia	1	CRYGC CL E G H	1420	1377				ORPHA	1	28	50	2410	123680
HP:0000545	HP:0000545	Myopia	1	CRYGD CL E G H	1421	1377				ORPHA	1	27	73	2411	123690
HP:0000545	HP:0000545	Myopia	1	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	11	301	2666	128239
HP:0000545	HP:0000545	Myopia	1	DEAF1 CL E G H	10522	819				ORPHA	1	17	129	14677	602635
HP:0000545	HP:0000545	Myopia	1	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	11	60	27030	617048
HP:0000545	HP:0000545	Myopia	1	DPYD CL E G H	1806	293948				ORPHA	1	124	285	3012	612779
HP:0000545	HP:0000545	Myopia	1	EED CL E G H	8726	617561	Cohen-Gibson syndrome	617561	C4479654	OMIM	1	9	49	3188	605984
HP:0000545	HP:0000545	Myopia	1	EIF2S3 CL E G H	1968	300148	MEHMO syndrome	300148	C1846278	OMIM	1	5	178	3267	300161
HP:0000545	HP:0000545	Myopia	1	EMC1 CL E G H	23065	616875	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875	C4225172	OMIM	1	7	120	28957	616846
HP:0000545	HP:0000545	Myopia	1	ENPP1 CL E G H	5167	758	Apo A-I deficiency			ORPHA	1	77	274	3356	173335
HP:0000545	HP:0000545	Myopia	1	EPHA2 CL E G H	1969	116600	Cataract 6, multiple types	116600	C1861825	OMIM	1	22	171	3386	176946
HP:0000545	HP:0000545	Myopia	1	EXOSC2 CL E G H	23404	617763	SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES	617763	C4540367	OMIM	1	2	59	17097	602238
HP:0000545	HP:0000545	Myopia	1	FANCI CL E G H	55215	609053	Fanconi anemia, complementation group I	609053	C1836861	OMIM	1	45	521	25568	611360
HP:0000545	HP:0000545	Myopia	1	FBN1 CL E G H	2200	154700	Marfan syndrome	154700	C0024796	OMIM	1	2721	4284	3603	134797
HP:0000545	HP:0000545	Myopia	1	FBN2 CL E G H	2201	121050	Congenital contractural arachnodactyly	121050	C0220668	OMIM	1	113	1402	3604	612570
HP:0000545	HP:0000545	Myopia	1	FKBP14 CL E G H	55033	300179				ORPHA	1	6	86	18625	614505
HP:0000545	HP:0000545	Myopia	1	FKBP14 CL E G H	55033	614557	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss	614557	C3281160	OMIM	1	6	86	18625	614505
HP:0000545	HP:0000545	Myopia	1	FKRP CL E G H	79147	588				ORPHA	1	141	402	17997	606596
HP:0000545	HP:0000545	Myopia	1	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	141	402	17997	606596
HP:0000545	HP:0000545	Myopia	1	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	141	402	17997	606596
HP:0000545	HP:0000545	Myopia	1	FKTN CL E G H	2218	588				ORPHA	1	59	450	3622	607440
HP:0000545	HP:0000545	Myopia	1	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	59	450	3622	607440
HP:0000545	HP:0000545	Myopia	1	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	59	450	3622	607440
HP:0000545	HP:0000545	Myopia	1	FKTN CL E G H	2218	272	VACTERL hydrocephaly			ORPHA	1	59	450	3622	607440
HP:0000545	HP:0000545	Myopia	1	FLII CL E G H	2314	819				ORPHA	1	2	153	3750	600362
HP:0000545	HP:0000545	Myopia	1	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	109	141	4274	121014
HP:0000545	HP:0000545	Myopia	1	GJA1 CL E G H	2697	257850	Oculodentodigital dysplasia, autosomal recessive	257850	C2749477	OMIM	1	109	141	4274	121014
HP:0000545	HP:0000545	Myopia	1	GJA8 CL E G H	2703	1377				ORPHA	1	63	347	4281	600897
HP:0000545	HP:0000545	Myopia	1	GJC2 CL E G H	57165	608804	Leukodystrophy, hypomyelinating, 2	608804	C1837355	OMIM	1	57	133	17494	608803
HP:0000545	HP:0000545	Myopia	1	GLRB CL E G H	2743	614619	Hyperekplexia 2	614619	C3553291	OMIM	1	19	125	4329	138492
HP:0000545	HP:0000545	Myopia	1	GMPPB CL E G H	29925	588				ORPHA	1	49	151	22932	615320
HP:0000545	HP:0000545	Myopia	1	GNPTG CL E G H	84572	252605	Mucolipidosis III Gamma	252605	C1854896	OMIM	1	49	271	23026	607838
HP:0000545	HP:0000545	Myopia	1	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	11	77	4446	603048
HP:0000545	HP:0000545	Myopia	1	GPR179 CL E G H	440435	614565	Congenital stationary night blindness, type 1E	614565	C3281215	OMIM	1	16	231	31371	614515
HP:0000545	HP:0000545	Myopia	1	GRM6 CL E G H	2916	257270	Congenital stationary night blindness, type 1B	257270	C1850362	OMIM	1	38	226	4598	604096
HP:0000545	HP:0000545	Myopia	1	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	5	21	4670	607434
HP:0000545	HP:0000545	Myopia	1	HACE1 CL E G H	57531	464282				ORPHA	1	13	63	21033	610876
HP:0000545	HP:0000545	Myopia	1	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	227	13315	300269
HP:0000545	HP:0000545	Myopia	1	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	56	227	13315	300269
HP:0000545	HP:0000545	Myopia	1	HSPG2 CL E G H	3339	800				ORPHA	1	67	862	5273	142461
HP:0000545	HP:0000545	Myopia	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	67	862	5273	142461
HP:0000545	HP:0000545	Myopia	1	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	28	286	18873	606951
HP:0000545	HP:0000545	Myopia	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	23	199	13556	606045
HP:0000545	HP:0000545	Myopia	1	IQSEC2 CL E G H	23096	819				ORPHA	1	57	539	29059	300522
HP:0000545	HP:0000545	Myopia	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	620	645	6188	601920
HP:0000545	HP:0000545	Myopia	1	KCNH1 CL E G H	3756	135500	Zimmermann-Laband syndrome 1	135500	CN032818	OMIM	1	13	91	6250	603305
HP:0000545	HP:0000545	Myopia	1	KCNV2 CL E G H	169522	610356	Retinal cone dystrophy 3B	610356	C1835897	OMIM	1	94	397	19698	607604
HP:0000545	HP:0000545	Myopia	1	KDM5B CL E G H	10765	618109	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65	618109	CN253823	OMIM	1	33	58	18039	605393
HP:0000545	HP:0000545	Myopia	1	KDM5C CL E G H	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	300534	C1845243	OMIM	1	56	327	11114	314690
HP:0000545	HP:0000545	Myopia	1	KIF11 CL E G H	3832	2526				ORPHA	1	70	172	6388	148760
HP:0000545	HP:0000545	Myopia	1	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	379	7132	159555
HP:0000545	HP:0000545	Myopia	1	KRAS CL E G H	3845	615278	Cardiofaciocutaneous syndrome 2	615278	C3809005	OMIM	1	45	274	6407	190070
HP:0000545	HP:0000545	Myopia	1	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	45	274	6407	190070
HP:0000545	HP:0000545	Myopia	1	LAMA1 CL E G H	284217	615960	Poretti-Boltshauser syndrome	615960	C4014821	OMIM	1	43	349	6481	150320
HP:0000545	HP:0000545	Myopia	1	LAMB2 CL E G H	3913	614199	Nephrotic syndrome, type 5, with or without ocular abnormalities	614199	C3280113	OMIM	1	127	368	6487	150325
HP:0000545	HP:0000545	Myopia	1	LARGE1 CL E G H	9215	588				ORPHA	1	28	406	6511	603590
HP:0000545	HP:0000545	Myopia	1	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	28	406	6511	603590
HP:0000545	HP:0000545	Myopia	1	LRIT3 CL E G H	345193	615058	Congenital stationary night blindness, type 1F	615058	C3554399	OMIM	1	9	145	24783	615004
HP:0000545	HP:0000545	Myopia	1	LRP2 CL E G H	4036	2143	Junctional epidermolysis bullosa inversa			ORPHA	1	46	600	6694	600073
HP:0000545	HP:0000545	Myopia	1	LTBP2 CL E G H	4053	251750	Microspherophakia	251750	C1562061	OMIM	1	29	299	6715	602091
HP:0000545	HP:0000545	Myopia	1	LTBP2 CL E G H	4053	614819	Weill-Marchesani syndrome 3	614819	C3553785	OMIM	1	29	299	6715	602091
HP:0000545	HP:0000545	Myopia	1	MAF CL E G H	4094	1377				ORPHA	1	22	172	6776	177075
HP:0000545	HP:0000545	Myopia	1	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	20	453	6814	605283
HP:0000545	HP:0000545	Myopia	1	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	23	213	6840	176872
HP:0000545	HP:0000545	Myopia	1	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	23	213	6840	176872
HP:0000545	HP:0000545	Myopia	1	MAP2K2 CL E G H	5605	615280	Cardiofaciocutaneous syndrome 4	615280	C3809007	OMIM	1	35	338	6842	601263
HP:0000545	HP:0000545	Myopia	1	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	35	338	6842	601263
HP:0000545	HP:0000545	Myopia	1	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	91	664	20444	611472
HP:0000545	HP:0000545	Myopia	1	MYO5A CL E G H	4644	33445				ORPHA	1	12	116	7602	160777
HP:0000545	HP:0000545	Myopia	1	MYO7A CL E G H	4647	231178				ORPHA	1	527	1257	7606	276903
HP:0000545	HP:0000545	Myopia	1	MYOC CL E G H	4653	137750	Primary open angle glaucoma juvenile onset 1	137750	C1842028	OMIM	1	143	103	7610	601652
HP:0000545	HP:0000545	Myopia	1	NDUFB11 CL E G H	54539	300952	Linear skin defects with multiple congenital anomalies 3	300952	C4225421	OMIM	1	6	163	20372	300403
HP:0000545	HP:0000545	Myopia	1	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	437	809	28862	608667
HP:0000545	HP:0000545	Myopia	1	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	809	28862	608667
HP:0000545	HP:0000545	Myopia	1	NONO CL E G H	4841	300967	Mental retardation, X-linked, syndromic 34	300967	C4225417	OMIM	1	4	168	7871	300084
HP:0000545	HP:0000545	Myopia	1	NSD1 CL E G H	64324	228415				ORPHA	1	525	896	14234	606681
HP:0000545	HP:0000545	Myopia	1	NT5C2 CL E G H	22978	613162	Spastic paraplegia 45, autosomal recessive	613162	C3888209	OMIM	1	8	100	8022	600417
HP:0000545	HP:0000545	Myopia	1	NYX CL E G H	60506	310500	Congenital stationary night blindness, type 1A	310500	C3495587	OMIM	1	91	256	8082	300278
HP:0000545	HP:0000545	Myopia	1	OAT CL E G H	4942	258870	Ornithine aminotransferase deficiency	258870	C0599035	OMIM	1	72	217	8091	613349
HP:0000545	HP:0000545	Myopia	1	OCA2 CL E G H	4948	203200	Tyrosinase-positive oculocutaneous albinism	203200	C0268495	OMIM	1	316	538	8101	611409
HP:0000545	HP:0000545	Myopia	1	OPN1LW CL E G H	5956	303700	Cone monochromatism	303700	C0339537	OMIM	1	63	250	9936	300822
HP:0000545	HP:0000545	Myopia	1	OPN1MW CL E G H	2652	303700	Cone monochromatism	303700	C0339537	OMIM	1	21	240	4206	300821
HP:0000545	HP:0000545	Myopia	1	OPTN CL E G H	10133	137760	Primary open angle glaucoma	137760	C0339573	OMIM	1	72	158	17142	602432
HP:0000545	HP:0000545	Myopia	1	PACS1 CL E G H	55690	615009	Schuurs-hoeijmakers syndrome	615009	C3554343	OMIM	1	2	91	30032	607492
HP:0000545	HP:0000545	Myopia	1	PACS2 CL E G H	23241	618067	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66	618067	CN252658	OMIM	1	2	92	23794	610423
HP:0000545	HP:0000545	Myopia	1	PAX2 CL E G H	5076	1475	Congenital bronchobiliary fistula			ORPHA	1	98	93	8616	167409
HP:0000545	HP:0000545	Myopia	1	PCYT1A CL E G H	5130	85167				ORPHA	1	20	143	8754	123695
HP:0000545	HP:0000545	Myopia	1	PDZD7 CL E G H	79955	231178				ORPHA	1	19	205	26257	612971
HP:0000545	HP:0000545	Myopia	1	PIK3CA CL E G H	5290	615108	Cowden syndrome 5	615108	C3554518	OMIM	1	57	379	8975	171834
HP:0000545	HP:0000545	Myopia	1	PIK3R1 CL E G H	5295	269880	SHORT syndrome	269880	C0878684	OMIM	1	29	156	8979	171833
HP:0000545	HP:0000545	Myopia	1	PLOD1 CL E G H	5351	1900				ORPHA	1	42	440	9081	153454
HP:0000545	HP:0000545	Myopia	1	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	42	440	9081	153454
HP:0000545	HP:0000545	Myopia	1	PLOD3 CL E G H	8985	612394	Bone fragility with contractures, arterial rupture, and deafness	612394	C2676285	OMIM	1	3	91	9083	603066
HP:0000545	HP:0000545	Myopia	1	POGZ CL E G H	23126	616364	White-sutton syndrome	616364	C4225351	OMIM	1	54	227	18801	614787
HP:0000545	HP:0000545	Myopia	1	POLR3A CL E G H	11128	447896				ORPHA	1	92	306	30074	614258
HP:0000545	HP:0000545	Myopia	1	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	92	306	30074	614258
HP:0000545	HP:0000545	Myopia	1	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	58	127	30348	614366
HP:0000545	HP:0000545	Myopia	1	POLR3B CL E G H	55703	614381	Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism	614381	C3280644	OMIM	1	58	127	30348	614366
HP:0000545	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	588				ORPHA	1	89	461	19139	606822
HP:0000545	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	89	461	19139	606822
HP:0000545	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	89	461	19139	606822
HP:0000545	HP:0000545	Myopia	1	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	89	461	19139	606822
HP:0000545	HP:0000545	Myopia	1	POMT1 CL E G H	10585	588				ORPHA	1	96	508	9202	607423
HP:0000545	HP:0000545	Myopia	1	POMT1 CL E G H	10585	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	96	508	9202	607423
HP:0000545	HP:0000545	Myopia	1	POMT2 CL E G H	29954	588				ORPHA	1	75	502	19743	607439
HP:0000545	HP:0000545	Myopia	1	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	75	502	19743	607439
HP:0000545	HP:0000545	Myopia	1	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	75	502	19743	607439
HP:0000545	HP:0000545	Myopia	1	POMT2 CL E G H	29954	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	75	502	19743	607439
HP:0000545	HP:0000545	Myopia	1	PPP2R5D CL E G H	5528	616355	Mental retardation, autosomal dominant 35	616355	C4225354	OMIM	1	11	41	9312	601646
HP:0000545	HP:0000545	Myopia	1	PRDM5 CL E G H	11107	614170	Brittle cornea syndrome 2	614170	C3280011	OMIM	1	13	131	9349	614161
HP:0000545	HP:0000545	Myopia	1	PRIMPOL CL E G H	201973	615420	Myopia 22, autosomal dominant	615420	C3809464	OMIM	1	2	106	26575	615421
HP:0000545	HP:0000545	Myopia	1	PSMD12 CL E G H	5718	529962				ORPHA	1	10	35	9557	604450
HP:0000545	HP:0000545	Myopia	1	PTEN CL E G H	5728	2969				ORPHA	1	658	2019	9588	601728
HP:0000545	HP:0000545	Myopia	1	PTEN CL E G H	5728	158350	Cowden syndrome 1	158350	CN072330	OMIM	1	658	2019	9588	601728
HP:0000545	HP:0000545	Myopia	1	PTPN11 CL E G H	5781	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	143	475	9644	176876
HP:0000545	HP:0000545	Myopia	1	RAD21 CL E G H	5885	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	13	149	9811	606462
HP:0000545	HP:0000545	Myopia	1	RAI1 CL E G H	10743	819				ORPHA	1	116	404	9834	607642
HP:0000545	HP:0000545	Myopia	1	RECQL4 CL E G H	9401	218600	Baller-Gerold syndrome	218600	C0265308	OMIM	1	122	2028	9949	603780
HP:0000545	HP:0000545	Myopia	1	RMRP CL E G H	6023	175				ORPHA	1	123	411	10031	157660
HP:0000545	HP:0000545	Myopia	1	RP1 CL E G H	6101	180100	Retinitis pigmentosa 1	180100	C0220701	OMIM	1	190	458	10263	603937
HP:0000545	HP:0000545	Myopia	1	RP2 CL E G H	6102	312600	Retinitis pigmentosa 2	312600	C2681923	OMIM	1	121	289	10274	300757
HP:0000545	HP:0000545	Myopia	1	RPGR CL E G H	6103	304020	Cone-rod dystrophy, X-linked 1	304020	C1844776	OMIM	1	245	662	10295	312610
HP:0000545	HP:0000545	Myopia	1	RPL10 CL E G H	6134	300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35	300998	C4478383	OMIM	1	6	242	10298	312173
HP:0000545	HP:0000545	Myopia	1	SCO2 CL E G H	9997	608908	Myopia 6	608908	C1837148	OMIM	1	37	275	10604	604272
HP:0000545	HP:0000545	Myopia	1	SETD5 CL E G H	55209	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	38	236	25566	615743
HP:0000545	HP:0000545	Myopia	1	SETD5 CL E G H	55209	615761	Mental retardation, autosomal dominant 23	615761	C3810406	OMIM	1	38	236	25566	615743
HP:0000545	HP:0000545	Myopia	1	SLC25A4 CL E G H	291	1369				ORPHA	1	17	234	10990	103220
HP:0000545	HP:0000545	Myopia	1	SLC39A5 CL E G H	283375	615946	Myopia 24, autosomal dominant	615946	C4014762	OMIM	1	8	19	20502	608730
HP:0000545	HP:0000545	Myopia	1	SMARCAL1 CL E G H	50485	242900	Schimke immunoosseous dysplasia	242900	C0877024	OMIM	1	88	244	11102	606622
HP:0000545	HP:0000545	Myopia	1	SMC1A CL E G H	8243	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	100	484	11111	300040
HP:0000545	HP:0000545	Myopia	1	SMC3 CL E G H	9126	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	28	213	2468	606062
HP:0000545	HP:0000545	Myopia	1	SOX5 CL E G H	6660	313892				ORPHA	1	29	146	11201	604975
HP:0000545	HP:0000545	Myopia	1	SOX5 CL E G H	6660	616803	Lamb-shaffer syndrome	616803	C4225202	OMIM	1	29	146	11201	604975
HP:0000545	HP:0000545	Myopia	1	TCF4 CL E G H	6925	2896	Hypogonadism retinitis pigmentosa			ORPHA	1	148	624	11634	602272
HP:0000545	HP:0000545	Myopia	1	TCF4 CL E G H	6925	610954	Pitt-Hopkins syndrome	610954	C1970431	OMIM	1	148	624	11634	602272
HP:0000545	HP:0000545	Myopia	1	TEAD1 CL E G H	7003	108985	Sveinsson chorioretinal atrophy	108985	C1862382	OMIM	1	2	33	11714	189967
HP:0000545	HP:0000545	Myopia	1	TFAP2A CL E G H	7020	113620	Branchiooculofacial syndrome	113620	C0376524	OMIM	1	44	82	11742	107580
HP:0000545	HP:0000545	Myopia	1	THOC6 CL E G H	79228	613680	Beaulieu-Boycott-Innes syndrome	613680	C3150939	OMIM	1	9	67	28369	615403
HP:0000545	HP:0000545	Myopia	1	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	22	185	11817	300356
HP:0000545	HP:0000545	Myopia	1	TMEM94 CL E G H	9772	618316	618316	618316		OMIM	1	3	28	28983	618163
HP:0000545	HP:0000545	Myopia	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	17	351	25751	614138
HP:0000545	HP:0000545	Myopia	1	TRIT1 CL E G H	54802	617873	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35	617873	CN807948	OMIM	1	6	28	20286	617840
HP:0000545	HP:0000545	Myopia	1	TRNT1 CL E G H	51095	616959	Retinitis pigmentosa and erythrocytic microcytosis	616959	C4310776	OMIM	1	26	248	17341	612907
HP:0000545	HP:0000545	Myopia	1	TRPM1 CL E G H	4308	613216	Congenital stationary night blindness, type 1C	613216	C2750747	OMIM	1	84	530	7146	603576
HP:0000545	HP:0000545	Myopia	1	TUB CL E G H	7275	616188	Retinal dystrophy and obesity	616188	C4015424	OMIM	1	3	98	12406	601197
HP:0000545	HP:0000545	Myopia	1	TULP1 CL E G H	7287	613843	Leber congenital amaurosis 15	613843	C3151206	OMIM	1	75	208	12423	602280
HP:0000545	HP:0000545	Myopia	1	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	1	9	88	20670	607556
HP:0000545	HP:0000545	Myopia	1	TYR CL E G H	7299	203100	Tyrosinase-negative oculocutaneous albinism	203100	C0268494	OMIM	1	445	226	12442	606933
HP:0000545	HP:0000545	Myopia	1	UBE3A CL E G H	7337	105830	Angelman syndrome	105830	C0162635	OMIM	1	202	759	12496	601623
HP:0000545	HP:0000545	Myopia	1	UBE3B CL E G H	89910	2707				ORPHA	1	25	54	13478	608047
HP:0000545	HP:0000545	Myopia	1	UBE3B CL E G H	89910	244450	Kaufman oculocerebrofacial syndrome	244450	C1855663	OMIM	1	25	54	13478	608047
HP:0000545	HP:0000545	Myopia	1	UCHL1 CL E G H	7345	615491	Spastic paraplegia 79, autosomal recessive	615491	C3809665	OMIM	1	6	59	12513	191342
HP:0000545	HP:0000545	Myopia	1	USH2A CL E G H	7399	231178				ORPHA	1	1234	2354	12601	608400
HP:0000545	HP:0000545	Myopia	1	USP9X CL E G H	8239	300968	Mental retardation, X-linked 99, syndromic, female-restricted	300968	C4225416	OMIM	1	28	269	12632	300072
HP:0000545	HP:0000545	Myopia	1	VARS CL E G H	7407	617802	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY	617802	C4540493	OMIM	1	8		12651	192150
HP:0000545	HP:0000545	Myopia	1	VCAN CL E G H	1462	143200	Wagner syndrome	143200	C0339540	OMIM	1	24	439	2464	118661
HP:0000545	HP:0000545	Myopia	1	VPS13B CL E G H	157680	193				ORPHA	1	213	1606	2183	607817
HP:0000545	HP:0000545	Myopia	1	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	213	1606	2183	607817
HP:0000545	HP:0000545	Myopia	1	WAC CL E G H	51322	616708	Desanto-shinawi syndrome	616708	C4225239	OMIM	1	25	77	17327	615049
HP:0000545	HP:0000545	Myopia	1	WDR19 CL E G H	57728	614376	Asphyxiating thoracic dystrophy 5	614376	C3280598	OMIM	1	45	294	18340	608151
HP:0000545	HP:0000545	Myopia	1	WHRN CL E G H	25861	231178				ORPHA	1	32	348	16361	607928
HP:0000545	HP:0000545	Myopia	1	YME1L1 CL E G H	10730	617302	Optic atrophy 11	617302	C4310628	OMIM	1	1	36	12843	607472
HP:0000545	HP:0000545	Myopia	1	ZNF408 CL E G H	79797	616468	Exudative vitreoretinopathy 6	616468	C4225316	OMIM	1	14	112	20041	616454
HP:0000545	HP:0000545	Myopia	1	ZNF469 CL E G H	84627	229200	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	229200	C0268344	OMIM	1	69	641	23216	612078
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000545	HP:0000545	Myopia	0	ACSL4 CL E G H	2182	86818				ORPHA	0	7	209	3571	300157
HP:0000545	HP:0000545	Myopia	0	AKT1 CL E G H	207	201				ORPHA	0	12	269	391	164730
HP:0000545	HP:0000545	Myopia	0	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	12	269	391	164730
HP:0000545	HP:0000545	Myopia	0	AMMECR1 CL E G H	9949	86818				ORPHA	0	5	181	467	300195
HP:0000545	HP:0000545	Myopia	0	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	0	134	721	21316	611192
HP:0000545	HP:0000545	Myopia	0	ANTXR1 CL E G H	84168	2067				ORPHA	0	14	24	21014	606410
HP:0000545	HP:0000545	Myopia	0	ASXL1 CL E G H	171023	97297				ORPHA	0	41	199	18318	612990
HP:0000545	HP:0000545	Myopia	0	ATAD3A CL E G H	55210	496790				ORPHA	0	17	186	25567	612316
HP:0000545	HP:0000545	Myopia	0	ATRX CL E G H	546	847				ORPHA	0	170	663	886	300032
HP:0000545	HP:0000545	Myopia	0	B3GALT6 CL E G H	126792	93359				ORPHA	0	40	232	17978	615291
HP:0000545	HP:0000545	Myopia	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	5	187	961	605681
HP:0000545	HP:0000545	Myopia	0	BMP4 CL E G H	652	139471				ORPHA	0	48	89	1071	112262
HP:0000545	HP:0000545	Myopia	0	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	48	89	1071	112262
HP:0000545	HP:0000545	Myopia	0	BTD CL E G H	686	79241				ORPHA	0	248	371	1122	609019
HP:0000545	HP:0000545	Myopia	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	0	214	611	1550	613381
HP:0000545	HP:0000545	Myopia	0	CCNQ CL E G H	92002	140952				ORPHA	0	11	228	28434	300708
HP:0000545	HP:0000545	Myopia	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	174	2586	603432
HP:0000545	HP:0000545	Myopia	0	COL1A1 CL E G H	1277	287				ORPHA	0	967	1105	2197	120150
HP:0000545	HP:0000545	Myopia	0	COL2A1 CL E G H	1280	94068				ORPHA	0	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	0	COL4A1 CL E G H	1282	607595	Brain small vessel disease with hemorrhage	607595	C1843512	OMIM	0	114	498	2202	120130
HP:0000545	HP:0000545	Myopia	0	COL5A1 CL E G H	1289	287				ORPHA	0	159	1630	2209	120215
HP:0000545	HP:0000545	Myopia	0	COL5A2 CL E G H	1290	287				ORPHA	0	39	793	2210	120190
HP:0000545	HP:0000545	Myopia	0	COX7B CL E G H	1349	300887	Linear skin defects with multiple congenital anomalies 2	300887	C3550921	OMIM	0	5	164	2291	300885
HP:0000545	HP:0000545	Myopia	0	CRYBA2 CL E G H	1412	115900	Cataract, floriform	115900	C1861830	OMIM	0	2	23	2395	600836
HP:0000545	HP:0000545	Myopia	0	CSPP1 CL E G H	79848	397715				ORPHA	0	27	257	26193	611654
HP:0000545	HP:0000545	Myopia	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	127	523	3327	130160
HP:0000545	HP:0000545	Myopia	0	ELP1 CL E G H	8518	1764				ORPHA	0	6	660	5959	603722
HP:0000545	HP:0000545	Myopia	0	FBN1 CL E G H	2200	2462				ORPHA	0	2721	4284	3603	134797
HP:0000545	HP:0000545	Myopia	0	GPR143 CL E G H	4935	54				ORPHA	0	181	261	20145	300808
HP:0000545	HP:0000545	Myopia	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	157	4659	601679
HP:0000545	HP:0000545	Myopia	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	6	206	4661	604318
HP:0000545	HP:0000545	Myopia	0	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	0	13	63	21033	610876
HP:0000545	HP:0000545	Myopia	0	HADHA CL E G H	3030	5				ORPHA	0	71	302	4801	600890
HP:0000545	HP:0000545	Myopia	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	6	482	4868	605837
HP:0000545	HP:0000545	Myopia	0	IFT122 CL E G H	55764	1515				ORPHA	0	23	199	13556	606045
HP:0000545	HP:0000545	Myopia	0	IFT43 CL E G H	112752	1515				ORPHA	0	7	64	29669	614068
HP:0000545	HP:0000545	Myopia	0	IFT52 CL E G H	51098	1515				ORPHA	0	5	34	15901	617094
HP:0000545	HP:0000545	Myopia	0	IGF1 CL E G H	3479	73272				ORPHA	0	13	167	5464	147440
HP:0000545	HP:0000545	Myopia	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		311	6109	601491
HP:0000545	HP:0000545	Myopia	0	KCNE5 CL E G H	23630	86818				ORPHA	0	4	173	6241	300328
HP:0000545	HP:0000545	Myopia	0	KIAA0586 CL E G H	9786	397715				ORPHA	0	31	155	19960	610178
HP:0000545	HP:0000545	Myopia	0	KIF11 CL E G H	3832	152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	152950	C1835265	OMIM	0	70	172	6388	148760
HP:0000545	HP:0000545	Myopia	0	KLHL7 CL E G H	55975	97297				ORPHA	0	14	127	15646	611119
HP:0000545	HP:0000545	Myopia	0	KLLN CL E G H	100144748	201				ORPHA	0	8	238	37212	612105
HP:0000545	HP:0000545	Myopia	0	LIG4 CL E G H	3981	235				ORPHA	0	40	317	6601	601837
HP:0000545	HP:0000545	Myopia	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	7	193	6613	601329
HP:0000545	HP:0000545	Myopia	0	LOX CL E G H	4015	617168	Aortic aneurysm, familial thoracic 10	617168	C4284414	OMIM	0	9	67	6664	153455
HP:0000545	HP:0000545	Myopia	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	20	453	6814	605283
HP:0000545	HP:0000545	Myopia	0	MBTPS2 CL E G H	51360	2273	Fara Chlupackova syndrome			ORPHA	0	26	207	15455	300294
HP:0000545	HP:0000545	Myopia	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	32	331	7114	603856
HP:0000545	HP:0000545	Myopia	0	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0			12910	603857
HP:0000545	HP:0000545	Myopia	0	MSX2 CL E G H	4488	604757	Craniosynostosis 2	604757	C1858160	OMIM	0	26	105	7392	123101
HP:0000545	HP:0000545	Myopia	0	NBAS CL E G H	51594	614800	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	614800	C3541319	OMIM	0	44	156	15625	608025
HP:0000545	HP:0000545	Myopia	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	2	314	7675	602117
HP:0000545	HP:0000545	Myopia	0	NOTCH2 CL E G H	4853	955				ORPHA	0	81	394	7882	600275
HP:0000545	HP:0000545	Myopia	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		343	1190	610922
HP:0000545	HP:0000545	Myopia	0	NRAS CL E G H	4893	613224	Noonan syndrome 6	613224	C2750732	OMIM	0	14	181	7989	164790
HP:0000545	HP:0000545	Myopia	0	NSUN2 CL E G H	54888	235				ORPHA	0	7	260	25994	610916
HP:0000545	HP:0000545	Myopia	0	NT5C2 CL E G H	22978	320396				ORPHA	0	8	100	8022	600417
HP:0000545	HP:0000545	Myopia	0	PIK3CA CL E G H	5290	201				ORPHA	0	57	379	8975	171834
HP:0000545	HP:0000545	Myopia	0	POLR1C CL E G H	9533	616494	Leukodystrophy, hypomyelinating, 11	616494	C4225305	OMIM	0	21	92	20194	610060
HP:0000545	HP:0000545	Myopia	0	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	0	96	508	9202	607423
HP:0000545	HP:0000545	Myopia	0	PTEN CL E G H	5728	201				ORPHA	0	658	2019	9588	601728
HP:0000545	HP:0000545	Myopia	0	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	658	2019	9588	601728
HP:0000545	HP:0000545	Myopia	0	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		311	30089	600161
HP:0000545	HP:0000545	Myopia	0	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		322	33235	611215
HP:0000545	HP:0000545	Myopia	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	4	173	9970	600404
HP:0000545	HP:0000545	Myopia	0	SDHB CL E G H	6390	201				ORPHA	0	279	667	10681	185470
HP:0000545	HP:0000545	Myopia	0	SDHC CL E G H	6391	201				ORPHA	0	62	415	10682	602413
HP:0000545	HP:0000545	Myopia	0	SDHD CL E G H	6392	201				ORPHA	0	174	361	10683	602690
HP:0000545	HP:0000545	Myopia	0	SEC23B CL E G H	10483	201				ORPHA	0	126	143	10702	610512
HP:0000545	HP:0000545	Myopia	0	SH2B1 CL E G H	25970	261197				ORPHA	0	16	160	30417	608937
HP:0000545	HP:0000545	Myopia	0	SIM1 CL E G H	6492	171829				ORPHA	0	53	116	10882	603128
HP:0000545	HP:0000545	Myopia	0	SKI CL E G H	6497	2462				ORPHA	0	24	502	10896	164780
HP:0000545	HP:0000545	Myopia	0	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	24	502	10896	164780
HP:0000545	HP:0000545	Myopia	0	SLC12A6 CL E G H	9990	1496	Congenital mitral stenosis			ORPHA	0	20	387	10914	604878
HP:0000545	HP:0000545	Myopia	0	SLC2A10 CL E G H	81031	3342				ORPHA	0	35	339	13444	606145
HP:0000545	HP:0000545	Myopia	0	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	28	213	2468	606062
HP:0000545	HP:0000545	Myopia	0	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		313	33020	609837
HP:0000545	HP:0000545	Myopia	0	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		314	33067	605436
HP:0000545	HP:0000545	Myopia	0	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	25	385	11164	182279
HP:0000545	HP:0000545	Myopia	0	SON CL E G H	6651	500150				ORPHA	0	28	224	11183	182465
HP:0000545	HP:0000545	Myopia	0	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	240	11535	313650
HP:0000545	HP:0000545	Myopia	0	TBC1D24 CL E G H	57465	79500				ORPHA	0	56	564	29203	613577
HP:0000545	HP:0000545	Myopia	0	TBC1D7 CL E G H	51256	248000	Macrocephalus	248000	C2243051	OMIM	0	2	47	21066	612655
HP:0000545	HP:0000545	Myopia	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0		159	11586	605842
HP:0000545	HP:0000545	Myopia	0	TFAP2B CL E G H	7021	46627				ORPHA	0	15	57	11743	601601
HP:0000545	HP:0000545	Myopia	0	TRAPPC11 CL E G H	60684	369847				ORPHA	0	17	351	25751	614138
HP:0000545	HP:0000545	Myopia	0	WDR19 CL E G H	57728	1515				ORPHA	0	45	294	18340	608151
HP:0000545	HP:0000545	Myopia	0	WDR35 CL E G H	57539	1515				ORPHA	0	31	292	29250	613602
HP:0000545	HP:0000545	Myopia	0	XYLT2 CL E G H	64132	85194				ORPHA	0	13	57	15517	608125
HP:0000545	HP:0000545	Myopia	0	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	2	62	29316	615951
HP:0000545	HP:0000545	Myopia	0	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	2	62	29316	615951
HP:0000545	HP:0000545	Myopia	1	ACSL4 CL E G H	2182	86818				ORPHA	0	7	209	3571	300157
HP:0000545	HP:0000545	Myopia	1	AKT1 CL E G H	207	201				ORPHA	0	12	269	391	164730
HP:0000545	HP:0000545	Myopia	1	AKT1 CL E G H	207	744	Aortic valves stenosis of the child			ORPHA	0	12	269	391	164730
HP:0000545	HP:0000545	Myopia	1	AMMECR1 CL E G H	9949	86818				ORPHA	0	5	181	467	300195
HP:0000545	HP:0000545	Myopia	1	ANKRD11 CL E G H	29123	261250	16q24.3 microdeletion syndrome		CN202174	ORPHA	0	134	721	21316	611192
HP:0000545	HP:0000545	Myopia	1	ANTXR1 CL E G H	84168	2067				ORPHA	0	14	24	21014	606410
HP:0000545	HP:0000545	Myopia	1	ASXL1 CL E G H	171023	97297				ORPHA	0	41	199	18318	612990
HP:0000545	HP:0000545	Myopia	1	ATAD3A CL E G H	55210	496790				ORPHA	0	17	186	25567	612316
HP:0000545	HP:0000545	Myopia	1	ATRX CL E G H	546	847				ORPHA	0	170	663	886	300032
HP:0000545	HP:0000545	Myopia	1	B3GALT6 CL E G H	126792	93359				ORPHA	0	40	232	17978	615291
HP:0000545	HP:0000545	Myopia	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	5	187	961	605681
HP:0000545	HP:0000545	Myopia	1	BMP4 CL E G H	652	139471				ORPHA	0	48	89	1071	112262
HP:0000545	HP:0000545	Myopia	1	BMP4 CL E G H	652	607932	Microphthalmia syndromic 6	607932	C1864689	OMIM	0	48	89	1071	112262
HP:0000545	HP:0000545	Myopia	1	BTD CL E G H	686	79241				ORPHA	0	248	371	1122	609019
HP:0000545	HP:0000545	Myopia	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	0	214	611	1550	613381
HP:0000545	HP:0000545	Myopia	1	CCNQ CL E G H	92002	140952				ORPHA	0	11	228	28434	300708
HP:0000545	HP:0000545	Myopia	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	174	2586	603432
HP:0000545	HP:0000545	Myopia	1	COL1A1 CL E G H	1277	287				ORPHA	0	967	1105	2197	120150
HP:0000545	HP:0000545	Myopia	1	COL2A1 CL E G H	1280	94068				ORPHA	0	570	731	2200	120140
HP:0000545	HP:0000545	Myopia	1	COL4A1 CL E G H	1282	607595	Brain small vessel disease with hemorrhage	607595	C1843512	OMIM	0	114	498	2202	120130
HP:0000545	HP:0000545	Myopia	1	COL5A1 CL E G H	1289	287				ORPHA	0	159	1630	2209	120215
HP:0000545	HP:0000545	Myopia	1	COL5A2 CL E G H	1290	287				ORPHA	0	39	793	2210	120190
HP:0000545	HP:0000545	Myopia	1	COX7B CL E G H	1349	300887	Linear skin defects with multiple congenital anomalies 2	300887	C3550921	OMIM	0	5	164	2291	300885
HP:0000545	HP:0000545	Myopia	1	CRYBA2 CL E G H	1412	115900	Cataract, floriform	115900	C1861830	OMIM	0	2	23	2395	600836
HP:0000545	HP:0000545	Myopia	1	CSPP1 CL E G H	79848	397715				ORPHA	0	27	257	26193	611654
HP:0000545	HP:0000545	Myopia	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	127	523	3327	130160
HP:0000545	HP:0000545	Myopia	1	ELP1 CL E G H	8518	1764				ORPHA	0	6	660	5959	603722
HP:0000545	HP:0000545	Myopia	1	FBN1 CL E G H	2200	2462				ORPHA	0	2721	4284	3603	134797
HP:0000545	HP:0000545	Myopia	1	GPR143 CL E G H	4935	54				ORPHA	0	181	261	20145	300808
HP:0000545	HP:0000545	Myopia	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	1	157	4659	601679
HP:0000545	HP:0000545	Myopia	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	6	206	4661	604318
HP:0000545	HP:0000545	Myopia	1	HACE1 CL E G H	57531	616756	Spastic paraplegia and psychomotor retardation with or without seizures	616756	C4225215	OMIM	0	13	63	21033	610876
HP:0000545	HP:0000545	Myopia	1	HADHA CL E G H	3030	5				ORPHA	0	71	302	4801	600890
HP:0000545	HP:0000545	Myopia	1	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	6	482	4868	605837
HP:0000545	HP:0000545	Myopia	1	IFT122 CL E G H	55764	1515				ORPHA	0	23	199	13556	606045
HP:0000545	HP:0000545	Myopia	1	IFT43 CL E G H	112752	1515				ORPHA	0	7	64	29669	614068
HP:0000545	HP:0000545	Myopia	1	IFT52 CL E G H	51098	1515				ORPHA	0	5	34	15901	617094
HP:0000545	HP:0000545	Myopia	1	IGF1 CL E G H	3479	73272				ORPHA	0	13	167	5464	147440
HP:0000545	HP:0000545	Myopia	1	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		311	6109	601491
HP:0000545	HP:0000545	Myopia	1	KCNE5 CL E G H	23630	86818				ORPHA	0	4	173	6241	300328
HP:0000545	HP:0000545	Myopia	1	KIAA0586 CL E G H	9786	397715				ORPHA	0	31	155	19960	610178
HP:0000545	HP:0000545	Myopia	1	KIF11 CL E G H	3832	152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	152950	C1835265	OMIM	0	70	172	6388	148760
HP:0000545	HP:0000545	Myopia	1	KLHL7 CL E G H	55975	97297				ORPHA	0	14	127	15646	611119
HP:0000545	HP:0000545	Myopia	1	KLLN CL E G H	100144748	201				ORPHA	0	8	238	37212	612105
HP:0000545	HP:0000545	Myopia	1	LIG4 CL E G H	3981	235				ORPHA	0	40	317	6601	601837
HP:0000545	HP:0000545	Myopia	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	7	193	6613	601329
HP:0000545	HP:0000545	Myopia	1	LOX CL E G H	4015	617168	Aortic aneurysm, familial thoracic 10	617168	C4284414	OMIM	0	9	67	6664	153455
HP:0000545	HP:0000545	Myopia	1	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	20	453	6814	605283
HP:0000545	HP:0000545	Myopia	1	MBTPS2 CL E G H	51360	2273	Fara Chlupackova syndrome			ORPHA	0	26	207	15455	300294
HP:0000545	HP:0000545	Myopia	1	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	32	331	7114	603856
HP:0000545	HP:0000545	Myopia	1	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0			12910	603857
HP:0000545	HP:0000545	Myopia	1	MSX2 CL E G H	4488	604757	Craniosynostosis 2	604757	C1858160	OMIM	0	26	105	7392	123101
HP:0000545	HP:0000545	Myopia	1	NBAS CL E G H	51594	614800	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	614800	C3541319	OMIM	0	44	156	15625	608025
HP:0000545	HP:0000545	Myopia	1	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	2	314	7675	602117
HP:0000545	HP:0000545	Myopia	1	NOTCH2 CL E G H	4853	955				ORPHA	0	81	394	7882	600275
HP:0000545	HP:0000545	Myopia	1	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		343	1190	610922
HP:0000545	HP:0000545	Myopia	1	NRAS CL E G H	4893	613224	Noonan syndrome 6	613224	C2750732	OMIM	0	14	181	7989	164790
HP:0000545	HP:0000545	Myopia	1	NSUN2 CL E G H	54888	235				ORPHA	0	7	260	25994	610916
HP:0000545	HP:0000545	Myopia	1	NT5C2 CL E G H	22978	320396				ORPHA	0	8	100	8022	600417
HP:0000545	HP:0000545	Myopia	1	PIK3CA CL E G H	5290	201				ORPHA	0	57	379	8975	171834
HP:0000545	HP:0000545	Myopia	1	POLR1C CL E G H	9533	616494	Leukodystrophy, hypomyelinating, 11	616494	C4225305	OMIM	0	21	92	20194	610060
HP:0000545	HP:0000545	Myopia	1	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	0	96	508	9202	607423
HP:0000545	HP:0000545	Myopia	1	PTEN CL E G H	5728	201				ORPHA	0	658	2019	9588	601728
HP:0000545	HP:0000545	Myopia	1	PTEN CL E G H	5728	744	Aortic valves stenosis of the child			ORPHA	0	658	2019	9588	601728
HP:0000545	HP:0000545	Myopia	1	PWAR1 CL E G H	145624	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		311	30089	600161
HP:0000545	HP:0000545	Myopia	1	PWRN1 CL E G H	791114	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		322	33235	611215
HP:0000545	HP:0000545	Myopia	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	0	4	173	9970	600404
HP:0000545	HP:0000545	Myopia	1	SDHB CL E G H	6390	201				ORPHA	0	279	667	10681	185470
HP:0000545	HP:0000545	Myopia	1	SDHC CL E G H	6391	201				ORPHA	0	62	415	10682	602413
HP:0000545	HP:0000545	Myopia	1	SDHD CL E G H	6392	201				ORPHA	0	174	361	10683	602690
HP:0000545	HP:0000545	Myopia	1	SEC23B CL E G H	10483	201				ORPHA	0	126	143	10702	610512
HP:0000545	HP:0000545	Myopia	1	SH2B1 CL E G H	25970	261197				ORPHA	0	16	160	30417	608937
HP:0000545	HP:0000545	Myopia	1	SIM1 CL E G H	6492	171829				ORPHA	0	53	116	10882	603128
HP:0000545	HP:0000545	Myopia	1	SKI CL E G H	6497	2462				ORPHA	0	24	502	10896	164780
HP:0000545	HP:0000545	Myopia	1	SKI CL E G H	6497	182212	Shprintzen-Goldberg syndrome	182212	C1321551	OMIM	0	24	502	10896	164780
HP:0000545	HP:0000545	Myopia	1	SLC12A6 CL E G H	9990	1496	Congenital mitral stenosis			ORPHA	0	20	387	10914	604878
HP:0000545	HP:0000545	Myopia	1	SLC2A10 CL E G H	81031	3342				ORPHA	0	35	339	13444	606145
HP:0000545	HP:0000545	Myopia	1	SMC3 CL E G H	9126	610759	Cornelia de Lange syndrome 3	610759	C1853099	OMIM	0	28	213	2468	606062
HP:0000545	HP:0000545	Myopia	1	SNORD115-1 CL E G H	338433	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		313	33020	609837
HP:0000545	HP:0000545	Myopia	1	SNORD116-1 CL E G H	100033413	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0		314	33067	605436
HP:0000545	HP:0000545	Myopia	1	SNRPN CL E G H	6638	176270	Prader-Willi syndrome	176270	C0032897	OMIM	0	25	385	11164	182279
HP:0000545	HP:0000545	Myopia	1	SON CL E G H	6651	500150				ORPHA	0	28	224	11183	182465
HP:0000545	HP:0000545	Myopia	1	TAF1 CL E G H	6872	300966	Mental retardation, X-linked, syndromic 33	300966	C4225418	OMIM	0	17	240	11535	313650
HP:0000545	HP:0000545	Myopia	1	TBC1D24 CL E G H	57465	79500				ORPHA	0	56	564	29203	613577
HP:0000545	HP:0000545	Myopia	1	TBC1D7 CL E G H	51256	248000	Macrocephalus	248000	C2243051	OMIM	0	2	47	21066	612655
HP:0000545	HP:0000545	Myopia	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	0		159	11586	605842
HP:0000545	HP:0000545	Myopia	1	TFAP2B CL E G H	7021	46627				ORPHA	0	15	57	11743	601601
HP:0000545	HP:0000545	Myopia	1	TRAPPC11 CL E G H	60684	369847				ORPHA	0	17	351	25751	614138
HP:0000545	HP:0000545	Myopia	1	WDR19 CL E G H	57728	1515				ORPHA	0	45	294	18340	608151
HP:0000545	HP:0000545	Myopia	1	WDR35 CL E G H	57539	1515				ORPHA	0	31	292	29250	613602
HP:0000545	HP:0000545	Myopia	1	XYLT2 CL E G H	64132	85194				ORPHA	0	13	57	15517	608125
HP:0000545	HP:0000545	Myopia	1	ZSWIM6 CL E G H	57688	603671	Acromelic frontonasal dysostosis	603671	C1863616	OMIM	0	2	62	29316	615951
HP:0000545	HP:0000545	Myopia	1	ZSWIM6 CL E G H	57688	1827	Dextrocardia		C0011813	ORPHA	0	2	62	29316	615951

Genes (286) :ABCC6 ACOX1 ACSL4 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTSL1 ADAMTSL4 ADGRV1 AGBL5 AGK AKT1 ALDH18A1 ALDH3A2 AMMECR1 ANKRD11 ANTXR1 ARCN1 ARID1B ASXL1 ATAD3A ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALNT2 B3GALT6 B3GLCT BAZ1B BBS1 BCL11B BFSP2 BLOC1S3 BMP4 BPTF BRAF BTD C12ORF57 C12orf57 C8ORF37 C8orf37 CABP4 CACNA1F CACNA2D4 CANT1 CASK CBS CCNQ CDC45 CHM CHMP1A CHST14 CLDN16 CLDN19 CLIP2 CNGB3 COL11A1 COL11A2 COL18A1 COL1A1 COL2A1 COL4A1 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COX7B CRIPT CRYAA CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CYP4V2 DAG1 DEAF1 DNAJC21 DPYD EED EIF2S3 ELN ELOVL4 ELP1 EMC1 ENPP1 EPHA2 ERBB3 EXOSC2 FANCI FBN1 FBN2 FGFR3 FKBP14 FKRP FKTN FLII GJA1 GJA8 GJC2 GLRB GMPPB GNAT1 GNB3 GNPTG GPAA1 GPR143 GPR179 GRK1 GRM6 GTF2I GTF2IRD1 GTPBP2 GZF1 HACE1 HADHA HDAC8 HERC2 HSPG2 IFIH1 IFT122 IFT43 IFT52 IGF1 IPW IQSEC2 IRX5 JAG1 KCNE5 KCNH1 KCNV2 KDM5B KDM5C KIAA0586 KIF11 KLHL7 KLLN KMT2A KRAS LAMA1 LAMB2 LARGE1 LIG4 LIMK1 LOX LRIT3 LRP2 LRPAP1 LTBP2 MAF MAGEL2 MAP2K1 MAP2K2 MBD5 MBTPS2 MKRN3 MKRN3-AS1 MSX2 MYO5A MYO7A MYOC NBAS NDN NDUFB11 NIPBL NONO NOTCH2 NPAP1 NRAS NSD1 NSUN2 NT5C2 NYX OAT OCA2 OPN1LW OPN1MW OPTN P3H2 P4HA2 PACS1 PACS2 PAX2 PCYT1A PDE6B PDZD7 PIK3CA PIK3R1 PLOD1 PLOD3 POGZ POLR1C POLR3A POLR3B POMGNT1 POMT1 POMT2 PPP2R5D PRDM5 PRIMPOL PSMD12 PTEN PTPN11 PWAR1 PWRN1 RAB28 RAD21 RAI1 RECQL4 RFC2 RHO RIN2 RMRP RP1 RP2 RPGR RPL10 SAG SCO2 SDHB SDHC SDHD SEC23B SETD5 SH2B1 SIM1 SKI SLC12A6 SLC24A1 SLC25A4 SLC2A10 SLC39A5 SLITRK6 SMARCAL1 SMC1A SMC3 SMS SNORD115-1 SNORD116-1 SNRPN SON SOX5 TAF1 TBC1D24 TBC1D7 TBL2 TCF4 TEAD1 TFAP2A TFAP2B THOC6 TIMM8A TMEM94 TRAPPC11 TRIT1 TRNT1 TRPM1 TTC8 TUB TULP1 TWIST2 TYR UBE3A UBE3B UCHL1 USH2A USP9X VARS VCAN VPS13B WAC WDR19 WDR35 WHRN XYLT2 YME1L1 ZNF408 ZNF469 ZNF644 ZSWIM6

Diseases (283) :758 177850 2971 86818 613195 225410 521445 231178 617023 1369 212350 201 744 615109 219150 816 261250 2067 617164 135900 97297 605039 496790 617183 219200 847 588 615181 93359 271640 261540 904 209900 618092 611597 614077 139471 607932 529962 115150 1340 163950 79241 218340 617406 178333 300476 300600 251450 163937 394 236200 140952 617063 180 614961 601776 248250 2196 248190 560 90654 250984 154780 604841 3450 1571 287 93346 94068 166011 485 93316 90653 132450 156550 183900 184250 108300 609508 607595 104200 203780 301050 130000 300887 1377 115900 397715 616538 819 617052 293948 617561 300148 1764 616875 116600 617763 609053 2462 154700 121050 300179 614557 613153 236670 253800 272 2710 257850 608804 614619 252605 617810 54 614565 257270 617988 464282 616756 5 199 300882 176270 800 255800 182250 1515 218330 73272 118450 135500 610356 618109 300534 2526 152950 615278 615960 614199 235 617168 615058 2143 251750 614819 615547 615280 156200 2273 604757 33445 137750 614800 300952 122470 300967 955 613224 228415 320396 613162 310500 258870 203200 303700 137760 615009 618067 1475 85167 615108 269880 1900 225400 612394 616364 616494 447896 607694 614381 613151 613157 253280 613155 613150 613156 616355 614170 615420 2969 158350 218600 175 180100 312600 304020 300998 608908 615761 261197 171829 182212 1496 3342 615946 242900 610759 500150 313892 616803 300966 79500 248000 2896 610954 108985 113620 46627 613680 304700 618316 369847 615356 617873 616959 613216 616188 613843 920 203100 105830 2707 244450 615491 300968 617802 143200 193 216550 616708 614376 85194 617302 616468 229200 603671 1827 3449 277600 225200 2834 357074 215 262300 440354 267750 614134 614284 615789 210370 614457 607598 284979 616914 608328 616482 617024 617662 611174 222448 615431 614292 617238 90354 615374 217335 221200 309583 220500 613464 614167

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

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