Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Abnormality of refraction (HP:0000539)help
..Starting node
..expand
Myopia (HP:0000545)help
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:
........expandCongenital myopia (HP:0008012) help
........expandHigh myopia (HP:0011003) help
........expandMild myopia (HP:0025573) help
........expandModerate myopia (HP:0031624) help
........expandAxial myopia (HP:0031730) help
........expandLatent myopia (HP:0500066) help

 Sister Nodes: 
..expandAnisometropia (HP:0012803) help
..expandAstigmatism (HP:0000483) help
..expandHypermetropia (HP:0000540) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000545HP:0000545Myopia0ABCC6 CL E G H368758Apo A-I deficiencyORPHA191457603234
HP:0000545HP:0000545Myopia0ABCC6 CL E G H368758Apo A-I deficiencyORPHA1113757603234
HP:0000545HP:0000545Myopia0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000545HP:0000545Myopia0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000545HP:0000545Myopia0ACOX1 CL E G H512971ORPHA1435119609751
HP:0000545HP:0000545Myopia0ACOX1 CL E G H512971ORPHA1388119609751
HP:0000545HP:0000545Myopia0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM175117109607511
HP:0000545HP:0000545Myopia0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM159917109607511
HP:0000545HP:0000545Myopia0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0000545HP:0000545Myopia0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0000545HP:0000545Myopia0ADAMTSL1 CL E G H92949521445ORPHA111214632609198
HP:0000545HP:0000545Myopia0ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000545HP:0000545Myopia0ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000545HP:0000545Myopia0AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM137726147615900
HP:0000545HP:0000545Myopia0AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM126526147615900
HP:0000545HP:0000545Myopia0AGK CL E G H557501369ORPHA123621869610345
HP:0000545HP:0000545Myopia0AGK CL E G H557501369ORPHA122021869610345
HP:0000545HP:0000545Myopia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0000545HP:0000545Myopia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0000545HP:0000545Myopia0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0000545HP:0000545Myopia0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0000545HP:0000545Myopia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0000545HP:0000545Myopia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0000545HP:0000545Myopia0ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0000545HP:0000545Myopia0ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0000545HP:0000545Myopia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000545HP:0000545Myopia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000545HP:0000545Myopia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000545HP:0000545Myopia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000545HP:0000545Myopia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000545HP:0000545Myopia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000545HP:0000545Myopia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000545HP:0000545Myopia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000545HP:0000545Myopia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0000545HP:0000545Myopia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0000545HP:0000545Myopia0B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000545HP:0000545Myopia0B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000545HP:0000545Myopia0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0000545HP:0000545Myopia0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0000545HP:0000545Myopia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000545HP:0000545Myopia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000545HP:0000545Myopia0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000545HP:0000545Myopia0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000545HP:0000545Myopia0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000545HP:0000545Myopia0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000545HP:0000545Myopia0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0000545HP:0000545Myopia0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0000545HP:0000545Myopia0BFSP2 CL E G H8419611597Cataract 12, multiple types611597C3808115OMIM11051041603212
HP:0000545HP:0000545Myopia0BFSP2 CL E G H8419611597Cataract 12, multiple types611597C3808115OMIM1991041603212
HP:0000545HP:0000545Myopia0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0000545HP:0000545Myopia0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0000545HP:0000545Myopia0BPTF CL E G H2186529962ORPHA11293581601819
HP:0000545HP:0000545Myopia0BPTF CL E G H2186529962ORPHA11393581601819
HP:0000545HP:0000545Myopia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0000545HP:0000545Myopia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0000545HP:0000545Myopia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000545HP:0000545Myopia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000545HP:0000545Myopia0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16801097164757
HP:0000545HP:0000545Myopia0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM16181097164757
HP:0000545HP:0000545Myopia0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM120829521615140
HP:0000545HP:0000545Myopia0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM119929521615140
HP:0000545HP:0000545Myopia0C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM127232614477
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778178333ORPHA18181393300110
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778178333ORPHA16581393300110
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM18181393300110
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM16581393300110
HP:0000545HP:0000545Myopia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0000545HP:0000545Myopia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0000545HP:0000545Myopia0CASK CL E G H8573163937ORPHA16331497300172
HP:0000545HP:0000545Myopia0CASK CL E G H8573163937ORPHA15831497300172
HP:0000545HP:0000545Myopia0CBS CL E G H875394ORPHA17921550613381
HP:0000545HP:0000545Myopia0CBS CL E G H875394ORPHA18561550613381
HP:0000545HP:0000545Myopia0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15421739603465
HP:0000545HP:0000545Myopia0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM15001739603465
HP:0000545HP:0000545Myopia0CHM CL E G H1121180ORPHA16201940300390
HP:0000545HP:0000545Myopia0CHM CL E G H1121180ORPHA15521940300390
HP:0000545HP:0000545Myopia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0000545HP:0000545Myopia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0000545HP:0000545Myopia0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0000545HP:0000545Myopia0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0000545HP:0000545Myopia0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12452037603959
HP:0000545HP:0000545Myopia0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12312037603959
HP:0000545HP:0000545Myopia0CLDN19 CL E G H1494612196Esophageal atresia coloboma talipesORPHA11232040610036
HP:0000545HP:0000545Myopia0CLDN19 CL E G H1494612196Esophageal atresia coloboma talipesORPHA11112040610036
HP:0000545HP:0000545Myopia0CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM11232040610036
HP:0000545HP:0000545Myopia0CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM11112040610036
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301560ORPHA110282186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H130190654ORPHA113392186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301250984ORPHA113392186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H130190654ORPHA110282186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301250984ORPHA110282186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301560ORPHA113392186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM113392186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM110282186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM113392186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM110282186120280
HP:0000545HP:0000545Myopia0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA19742187120290
HP:0000545HP:0000545Myopia0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA17052187120290
HP:0000545HP:0000545Myopia0COL18A1 CL E G H807811571ORPHA114972195120328
HP:0000545HP:0000545Myopia0COL18A1 CL E G H807811571ORPHA17612195120328
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280485ORPHA112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128093316ORPHA115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128093346ORPHA115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128090653ORPHA115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280166011ORPHA115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128093316ORPHA112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128093346ORPHA112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128090653ORPHA112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280166011ORPHA112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280485ORPHA115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM112132200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM115402200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM112132200120140
HP:0000545HP:0000545Myopia0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM113622204120070
HP:0000545HP:0000545Myopia0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM112032204120070
HP:0000545HP:0000545Myopia0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM113622204120070
HP:0000545HP:0000545Myopia0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM112032204120070
HP:0000545HP:0000545Myopia0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM115322206120131
HP:0000545HP:0000545Myopia0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM113862206120131
HP:0000545HP:0000545Myopia0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM114932207303630
HP:0000545HP:0000545Myopia0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM112872207303630
HP:0000545HP:0000545Myopia0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM122462209120215
HP:0000545HP:0000545Myopia0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM120772209120215
HP:0000545HP:0000545Myopia0COL9A1 CL E G H1297250984ORPHA17442217120210
HP:0000545HP:0000545Myopia0COL9A1 CL E G H1297250984ORPHA15942217120210
HP:0000545HP:0000545Myopia0COL9A2 CL E G H1298250984ORPHA14792218120260
HP:0000545HP:0000545Myopia0COL9A2 CL E G H1298250984ORPHA13362218120260
HP:0000545HP:0000545Myopia0COL9A3 CL E G H1299250984ORPHA17032219120270
HP:0000545HP:0000545Myopia0COL9A3 CL E G H1299250984ORPHA14642219120270
HP:0000545HP:0000545Myopia0CRYAA CL E G H14091377ORPHA11502388123580
HP:0000545HP:0000545Myopia0CRYAA CL E G H14091377ORPHA11412388123580
HP:0000545HP:0000545Myopia0CRYBA4 CL E G H14131377ORPHA11182396123631
HP:0000545HP:0000545Myopia0CRYBA4 CL E G H14131377ORPHA11142396123631
HP:0000545HP:0000545Myopia0CRYBB1 CL E G H14141377ORPHA1852397600929
HP:0000545HP:0000545Myopia0CRYBB1 CL E G H14141377ORPHA1822397600929
HP:0000545HP:0000545Myopia0CRYBB2 CL E G H14151377ORPHA11032398123620
HP:0000545HP:0000545Myopia0CRYBB2 CL E G H14151377ORPHA1972398123620
HP:0000545HP:0000545Myopia0CRYGC CL E G H14201377ORPHA1722410123680
HP:0000545HP:0000545Myopia0CRYGC CL E G H14201377ORPHA1672410123680
HP:0000545HP:0000545Myopia0CRYGD CL E G H14211377ORPHA1922411123690
HP:0000545HP:0000545Myopia0CRYGD CL E G H14211377ORPHA1862411123690
HP:0000545HP:0000545Myopia0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0000545HP:0000545Myopia0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0000545HP:0000545Myopia0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000545HP:0000545Myopia0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000545HP:0000545Myopia0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0000545HP:0000545Myopia0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0000545HP:0000545Myopia0DPYD CL E G H1806293948ORPHA13403012612779
HP:0000545HP:0000545Myopia0DPYD CL E G H1806293948ORPHA13383012612779
HP:0000545HP:0000545Myopia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0000545HP:0000545Myopia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0000545HP:0000545Myopia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0000545HP:0000545Myopia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0000545HP:0000545Myopia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM152528957616846
HP:0000545HP:0000545Myopia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM129428957616846
HP:0000545HP:0000545Myopia0ENPP1 CL E G H5167758Apo A-I deficiencyORPHA13703356173335
HP:0000545HP:0000545Myopia0ENPP1 CL E G H5167758Apo A-I deficiencyORPHA13863356173335
HP:0000545HP:0000545Myopia0EPHA2 CL E G H1969116600Cataract 6, multiple types116600C1861825OMIM12313386176946
HP:0000545HP:0000545Myopia0EPHA2 CL E G H1969116600Cataract 6, multiple types116600C1861825OMIM12223386176946
HP:0000545HP:0000545Myopia0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM115717097602238
HP:0000545HP:0000545Myopia0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM111517097602238
HP:0000545HP:0000545Myopia0FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM1104025568611360
HP:0000545HP:0000545Myopia0FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM179125568611360
HP:0000545HP:0000545Myopia0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM154573603134797
HP:0000545HP:0000545Myopia0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM149683603134797
HP:0000545HP:0000545Myopia0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM119783604612570
HP:0000545HP:0000545Myopia0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM118383604612570
HP:0000545HP:0000545Myopia0FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0000545HP:0000545Myopia0FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0000545HP:0000545Myopia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM114418625614505
HP:0000545HP:0000545Myopia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM111818625614505
HP:0000545HP:0000545Myopia0FKRP CL E G H79147588ORPHA157217997606596
HP:0000545HP:0000545Myopia0FKRP CL E G H79147588ORPHA167117997606596
HP:0000545HP:0000545Myopia0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM167117997606596
HP:0000545HP:0000545Myopia0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM157217997606596
HP:0000545HP:0000545Myopia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM167117997606596
HP:0000545HP:0000545Myopia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM157217997606596
HP:0000545HP:0000545Myopia0FKTN CL E G H2218588ORPHA15993622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218588ORPHA16793622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16793622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15993622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218272VACTERL hydrocephalyORPHA15993622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218272VACTERL hydrocephalyORPHA16793622607440
HP:0000545HP:0000545Myopia0FLII CL E G H2314819ORPHA11553750600362
HP:0000545HP:0000545Myopia0FLII CL E G H2314819ORPHA11583750600362
HP:0000545HP:0000545Myopia0GJA1 CL E G H26972710Hm syndromeORPHA11914274121014
HP:0000545HP:0000545Myopia0GJA1 CL E G H26972710Hm syndromeORPHA11694274121014
HP:0000545HP:0000545Myopia0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11914274121014
HP:0000545HP:0000545Myopia0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11694274121014
HP:0000545HP:0000545Myopia0GJA8 CL E G H27031377ORPHA13914281600897
HP:0000545HP:0000545Myopia0GJA8 CL E G H27031377ORPHA13764281600897
HP:0000545HP:0000545Myopia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM122117494608803
HP:0000545HP:0000545Myopia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM117417494608803
HP:0000545HP:0000545Myopia0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12394329138492
HP:0000545HP:0000545Myopia0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM11574329138492
HP:0000545HP:0000545Myopia0GMPPB CL E G H29925588ORPHA120322932615320
HP:0000545HP:0000545Myopia0GMPPB CL E G H29925588ORPHA123422932615320
HP:0000545HP:0000545Myopia0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM150623026607838
HP:0000545HP:0000545Myopia0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM143823026607838
HP:0000545HP:0000545Myopia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0000545HP:0000545Myopia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0000545HP:0000545Myopia0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM168131371614515
HP:0000545HP:0000545Myopia0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM132031371614515
HP:0000545HP:0000545Myopia0GRM6 CL E G H2916257270Congenital stationary night blindness, type 1B257270C1850362OMIM15744598604096
HP:0000545HP:0000545Myopia0GRM6 CL E G H2916257270Congenital stationary night blindness, type 1B257270C1850362OMIM14434598604096
HP:0000545HP:0000545Myopia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0000545HP:0000545Myopia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0000545HP:0000545Myopia0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0000545HP:0000545Myopia0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0000545HP:0000545Myopia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000545HP:0000545Myopia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000545HP:0000545Myopia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM128713315300269
HP:0000545HP:0000545Myopia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM126913315300269
HP:0000545HP:0000545Myopia0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0000545HP:0000545Myopia0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0000545HP:0000545Myopia0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0000545HP:0000545Myopia0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0000545HP:0000545Myopia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM171818873606951
HP:0000545HP:0000545Myopia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM147618873606951
HP:0000545HP:0000545Myopia0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM139113556606045
HP:0000545HP:0000545Myopia0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM131713556606045
HP:0000545HP:0000545Myopia0IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000545HP:0000545Myopia0IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000545HP:0000545Myopia0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0000545HP:0000545Myopia0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0000545HP:0000545Myopia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM12776250603305
HP:0000545HP:0000545Myopia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM11776250603305
HP:0000545HP:0000545Myopia0KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM167119698607604
HP:0000545HP:0000545Myopia0KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM155219698607604
HP:0000545HP:0000545Myopia0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM110718039605393
HP:0000545HP:0000545Myopia0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM110018039605393
HP:0000545HP:0000545Myopia0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM150911114314690
HP:0000545HP:0000545Myopia0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM148111114314690
HP:0000545HP:0000545Myopia0KIF11 CL E G H38322526ORPHA14986388148760
HP:0000545HP:0000545Myopia0KIF11 CL E G H38322526ORPHA14056388148760
HP:0000545HP:0000545Myopia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA19747132159555
HP:0000545HP:0000545Myopia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA16737132159555
HP:0000545HP:0000545Myopia0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM13416407190070
HP:0000545HP:0000545Myopia0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM13316407190070
HP:0000545HP:0000545Myopia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13416407190070
HP:0000545HP:0000545Myopia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13316407190070
HP:0000545HP:0000545Myopia0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM16266481150320
HP:0000545HP:0000545Myopia0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM14716481150320
HP:0000545HP:0000545Myopia0LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM16006487150325
HP:0000545HP:0000545Myopia0LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM14706487150325
HP:0000545HP:0000545Myopia0LARGE1 CL E G H9215588ORPHA15166511603590
HP:0000545HP:0000545Myopia0LARGE1 CL E G H9215588ORPHA15976511603590
HP:0000545HP:0000545Myopia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15976511603590
HP:0000545HP:0000545Myopia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15166511603590
HP:0000545HP:0000545Myopia0LRIT3 CL E G H345193615058Congenital stationary night blindness, type 1F615058C3554399OMIM128924783615004
HP:0000545HP:0000545Myopia0LRIT3 CL E G H345193615058Congenital stationary night blindness, type 1F615058C3554399OMIM122724783615004
HP:0000545HP:0000545Myopia0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA116276694600073
HP:0000545HP:0000545Myopia0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA19666694600073
HP:0000545HP:0000545Myopia0LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM16196715602091
HP:0000545HP:0000545Myopia0LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM14026715602091
HP:0000545HP:0000545Myopia0LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM16196715602091
HP:0000545HP:0000545Myopia0LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM14026715602091
HP:0000545HP:0000545Myopia0MAF CL E G H40941377ORPHA12786776177075
HP:0000545HP:0000545Myopia0MAF CL E G H40941377ORPHA12476776177075
HP:0000545HP:0000545Myopia0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0000545HP:0000545Myopia0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0000545HP:0000545Myopia0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13366840176872
HP:0000545HP:0000545Myopia0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13066840176872
HP:0000545HP:0000545Myopia0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13366840176872
HP:0000545HP:0000545Myopia0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM13066840176872
HP:0000545HP:0000545Myopia0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM15156842601263
HP:0000545HP:0000545Myopia0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM14526842601263
HP:0000545HP:0000545Myopia0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15156842601263
HP:0000545HP:0000545Myopia0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA14526842601263
HP:0000545HP:0000545Myopia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM199320444611472
HP:0000545HP:0000545Myopia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM187820444611472
HP:0000545HP:0000545Myopia0MYO5A CL E G H464433445ORPHA12297602160777
HP:0000545HP:0000545Myopia0MYO5A CL E G H464433445ORPHA12227602160777
HP:0000545HP:0000545Myopia0MYO7A CL E G H4647231178ORPHA125167606276903
HP:0000545HP:0000545Myopia0MYO7A CL E G H4647231178ORPHA122237606276903
HP:0000545HP:0000545Myopia0MYOC CL E G H4653137750Primary open angle glaucoma juvenile onset 1137750C1842028OMIM11607610601652
HP:0000545HP:0000545Myopia0MYOC CL E G H4653137750Primary open angle glaucoma juvenile onset 1137750C1842028OMIM11317610601652
HP:0000545HP:0000545Myopia0NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM118320372300403
HP:0000545HP:0000545Myopia0NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM117720372300403
HP:0000545HP:0000545Myopia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1106928862608667
HP:0000545HP:0000545Myopia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1100328862608667
HP:0000545HP:0000545Myopia0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0000545HP:0000545Myopia0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0000545HP:0000545Myopia0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM11937871300084
HP:0000545HP:0000545Myopia0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM11887871300084
HP:0000545HP:0000545Myopia0NSD1 CL E G H64324228415ORPHA1124014234606681
HP:0000545HP:0000545Myopia0NSD1 CL E G H64324228415ORPHA1115414234606681
HP:0000545HP:0000545Myopia0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM11488022600417
HP:0000545HP:0000545Myopia0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM11388022600417
HP:0000545HP:0000545Myopia0NYX CL E G H60506310500Congenital stationary night blindness, type 1A310500C3495587OMIM13808082300278
HP:0000545HP:0000545Myopia0NYX CL E G H60506310500Congenital stationary night blindness, type 1A310500C3495587OMIM13178082300278
HP:0000545HP:0000545Myopia0OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM14328091613349
HP:0000545HP:0000545Myopia0OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM13658091613349
HP:0000545HP:0000545Myopia0OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM18518101611409
HP:0000545HP:0000545Myopia0OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM16628101611409
HP:0000545HP:0000545Myopia0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM12719936300822
HP:0000545HP:0000545Myopia0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM12649936300822
HP:0000545HP:0000545Myopia0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM12604206300821
HP:0000545HP:0000545Myopia0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM12554206300821
HP:0000545HP:0000545Myopia0OPTN CL E G H10133137760Primary open angle glaucoma137760C0339573OMIM128817142602432
HP:0000545HP:0000545Myopia0OPTN CL E G H10133137760Primary open angle glaucoma137760C0339573OMIM124017142602432
HP:0000545HP:0000545Myopia0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM124530032607492
HP:0000545HP:0000545Myopia0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM121930032607492
HP:0000545HP:0000545Myopia0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129823794610423
HP:0000545HP:0000545Myopia0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM115423794610423
HP:0000545HP:0000545Myopia0PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA12508616167409
HP:0000545HP:0000545Myopia0PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA11948616167409
HP:0000545HP:0000545Myopia0PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000545HP:0000545Myopia0PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000545HP:0000545Myopia0PDZD7 CL E G H79955231178ORPHA160726257612971
HP:0000545HP:0000545Myopia0PDZD7 CL E G H79955231178ORPHA143326257612971
HP:0000545HP:0000545Myopia0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM16138975171834
HP:0000545HP:0000545Myopia0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM15448975171834
HP:0000545HP:0000545Myopia0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM13078979171833
HP:0000545HP:0000545Myopia0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM12628979171833
HP:0000545HP:0000545Myopia0PLOD1 CL E G H53511900ORPHA16619081153454
HP:0000545HP:0000545Myopia0PLOD1 CL E G H53511900ORPHA15859081153454
HP:0000545HP:0000545Myopia0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM16619081153454
HP:0000545HP:0000545Myopia0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM15859081153454
HP:0000545HP:0000545Myopia0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM12259083603066
HP:0000545HP:0000545Myopia0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM11239083603066
HP:0000545HP:0000545Myopia0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM139718801614787
HP:0000545HP:0000545Myopia0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM138118801614787
HP:0000545HP:0000545Myopia0POLR3A CL E G H11128447896ORPHA165430074614258
HP:0000545HP:0000545Myopia0POLR3A CL E G H11128447896ORPHA148430074614258
HP:0000545HP:0000545Myopia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0000545HP:0000545Myopia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0000545HP:0000545Myopia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0000545HP:0000545Myopia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0000545HP:0000545Myopia0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM132630348614366
HP:0000545HP:0000545Myopia0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM129730348614366
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624588ORPHA166219139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624588ORPHA179719139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM179719139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM166219139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM179719139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM166219139606822
HP:0000545HP:0000545Myopia0POMT1 CL E G H10585588ORPHA16099202607423
HP:0000545HP:0000545Myopia0POMT1 CL E G H10585588ORPHA16869202607423
HP:0000545HP:0000545Myopia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16869202607423
HP:0000545HP:0000545Myopia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16099202607423
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954588ORPHA160419743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954588ORPHA169119743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM169119743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM160419743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM169119743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM160419743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM169119743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM160419743607439
HP:0000545HP:0000545Myopia0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM12039312601646
HP:0000545HP:0000545Myopia0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM11359312601646
HP:0000545HP:0000545Myopia0PRDM5 CL E G H11107614170Brittle cornea syndrome 2614170C3280011OMIM12169349614161
HP:0000545HP:0000545Myopia0PRDM5 CL E G H11107614170Brittle cornea syndrome 2614170C3280011OMIM11979349614161
HP:0000545HP:0000545Myopia0PRIMPOL CL E G H201973615420Myopia 22, autosomal dominant615420C3809464OMIM110726575615421
HP:0000545HP:0000545Myopia0PSMD12 CL E G H5718529962ORPHA1469557604450
HP:0000545HP:0000545Myopia0PSMD12 CL E G H5718529962ORPHA1479557604450
HP:0000545HP:0000545Myopia0PTEN CL E G H57282969ORPHA124169588601728
HP:0000545HP:0000545Myopia0PTEN CL E G H57282969ORPHA122469588601728
HP:0000545HP:0000545Myopia0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM124169588601728
HP:0000545HP:0000545Myopia0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM122469588601728
HP:0000545HP:0000545Myopia0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM16299644176876
HP:0000545HP:0000545Myopia0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM15659644176876
HP:0000545HP:0000545Myopia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12549811606462
HP:0000545HP:0000545Myopia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12399811606462
HP:0000545HP:0000545Myopia0RAI1 CL E G H10743819ORPHA15159834607642
HP:0000545HP:0000545Myopia0RAI1 CL E G H10743819ORPHA18069834607642
HP:0000545HP:0000545Myopia0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM132749949603780
HP:0000545HP:0000545Myopia0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM127519949603780
HP:0000545HP:0000545Myopia0RMRP CL E G H6023175ORPHA160910031157660
HP:0000545HP:0000545Myopia0RMRP CL E G H6023175ORPHA149810031157660
HP:0000545HP:0000545Myopia0RP1 CL E G H6101180100Retinitis pigmentosa 1180100C0220701OMIM194010263603937
HP:0000545HP:0000545Myopia0RP1 CL E G H6101180100Retinitis pigmentosa 1180100C0220701OMIM169110263603937
HP:0000545HP:0000545Myopia0RP2 CL E G H6102312600Retinitis pigmentosa 2312600C2681923OMIM141010274300757
HP:0000545HP:0000545Myopia0RP2 CL E G H6102312600Retinitis pigmentosa 2312600C2681923OMIM134810274300757
HP:0000545HP:0000545Myopia0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM184710295312610
HP:0000545HP:0000545Myopia0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM180210295312610
HP:0000545HP:0000545Myopia0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM125910298312173
HP:0000545HP:0000545Myopia0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM125410298312173
HP:0000545HP:0000545Myopia0SCO2 CL E G H9997608908Myopia 6608908C1837148OMIM144510604604272
HP:0000545HP:0000545Myopia0SCO2 CL E G H9997608908Myopia 6608908C1837148OMIM137010604604272
HP:0000545HP:0000545Myopia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA149225566615743
HP:0000545HP:0000545Myopia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA141825566615743
HP:0000545HP:0000545Myopia0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM149225566615743
HP:0000545HP:0000545Myopia0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM141825566615743
HP:0000545HP:0000545Myopia0SLC25A4 CL E G H2911369ORPHA126110990103220
HP:0000545HP:0000545Myopia0SLC25A4 CL E G H2911369ORPHA125410990103220
HP:0000545HP:0000545Myopia0SLC39A5 CL E G H283375615946Myopia 24, autosomal dominant615946C4014762OMIM12620502608730
HP:0000545HP:0000545Myopia0SLC39A5 CL E G H283375615946Myopia 24, autosomal dominant615946C4014762OMIM12220502608730
HP:0000545HP:0000545Myopia0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM159211102606622
HP:0000545HP:0000545Myopia0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM149111102606622
HP:0000545HP:0000545Myopia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA169011111300040
HP:0000545HP:0000545Myopia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA163511111300040
HP:0000545HP:0000545Myopia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13222468606062
HP:0000545HP:0000545Myopia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13112468606062
HP:0000545HP:0000545Myopia0SOX5 CL E G H6660313892ORPHA118211201604975
HP:0000545HP:0000545Myopia0SOX5 CL E G H6660313892ORPHA117111201604975
HP:0000545HP:0000545Myopia0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM118211201604975
HP:0000545HP:0000545Myopia0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM117111201604975
HP:0000545HP:0000545Myopia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA181211634602272
HP:0000545HP:0000545Myopia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA175611634602272
HP:0000545HP:0000545Myopia0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM181211634602272
HP:0000545HP:0000545Myopia0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM175611634602272
HP:0000545HP:0000545Myopia0TEAD1 CL E G H7003108985Sveinsson chorioretinal atrophy108985C1862382OMIM110611714189967
HP:0000545HP:0000545Myopia0TEAD1 CL E G H7003108985Sveinsson chorioretinal atrophy108985C1862382OMIM17511714189967
HP:0000545HP:0000545Myopia0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM114211742107580
HP:0000545HP:0000545Myopia0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM113211742107580
HP:0000545HP:0000545Myopia0THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM18328369615403
HP:0000545HP:0000545Myopia0THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM18128369615403
HP:0000545HP:0000545Myopia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM121111817300356
HP:0000545HP:0000545Myopia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM120111817300356
HP:0000545HP:0000545Myopia0TMEM94 CL E G H9772618316618316618316OMIM15328983618163
HP:0000545HP:0000545Myopia0TMEM94 CL E G H9772618316618316618316OMIM14628983618163
HP:0000545HP:0000545Myopia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0000545HP:0000545Myopia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0000545HP:0000545Myopia0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM15920286617840
HP:0000545HP:0000545Myopia0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM15420286617840
HP:0000545HP:0000545Myopia0TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM145317341612907
HP:0000545HP:0000545Myopia0TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM135317341612907
HP:0000545HP:0000545Myopia0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM110267146603576
HP:0000545HP:0000545Myopia0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM18277146603576
HP:0000545HP:0000545Myopia0TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM129012406601197
HP:0000545HP:0000545Myopia0TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM120012406601197
HP:0000545HP:0000545Myopia0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM140712423602280
HP:0000545HP:0000545Myopia0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM131112423602280
HP:0000545HP:0000545Myopia0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA19920670607556
HP:0000545HP:0000545Myopia0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA19220670607556
HP:0000545HP:0000545Myopia0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM135812442606933
HP:0000545HP:0000545Myopia0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM125912442606933
HP:0000545HP:0000545Myopia0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM194812496601623
HP:0000545HP:0000545Myopia0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM189712496601623
HP:0000545HP:0000545Myopia0UBE3B CL E G H899102707ORPHA17713478608047
HP:0000545HP:0000545Myopia0UBE3B CL E G H899102707ORPHA16913478608047
HP:0000545HP:0000545Myopia0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM17713478608047
HP:0000545HP:0000545Myopia0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM16913478608047
HP:0000545HP:0000545Myopia0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0000545HP:0000545Myopia0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0000545HP:0000545Myopia0USH2A CL E G H7399231178ORPHA1482812601608400
HP:0000545HP:0000545Myopia0USH2A CL E G H7399231178ORPHA1406112601608400
HP:0000545HP:0000545Myopia0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM151412632300072
HP:0000545HP:0000545Myopia0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM149312632300072
HP:0000545HP:0000545Myopia0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM112651192150
HP:0000545HP:0000545Myopia0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM111112464118661
HP:0000545HP:0000545Myopia0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM17832464118661
HP:0000545HP:0000545Myopia0VPS13B CL E G H157680193ORPHA131822183607817
HP:0000545HP:0000545Myopia0VPS13B CL E G H157680193ORPHA126112183607817
HP:0000545HP:0000545Myopia0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM131822183607817
HP:0000545HP:0000545Myopia0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM126112183607817
HP:0000545HP:0000545Myopia0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM118817327615049
HP:0000545HP:0000545Myopia0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM117617327615049
HP:0000545HP:0000545Myopia0WDR19 CL E G H57728614376Asphyxiating thoracic dystrophy 5614376C3280598OMIM164218340608151
HP:0000545HP:0000545Myopia0WDR19 CL E G H57728614376Asphyxiating thoracic dystrophy 5614376C3280598OMIM147718340608151
HP:0000545HP:0000545Myopia0WHRN CL E G H25861231178ORPHA162516361607928
HP:0000545HP:0000545Myopia0WHRN CL E G H25861231178ORPHA150016361607928
HP:0000545HP:0000545Myopia0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM19212843607472
HP:0000545HP:0000545Myopia0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM18612843607472
HP:0000545HP:0000545Myopia0ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM131920041616454
HP:0000545HP:0000545Myopia0ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM121920041616454
HP:0000545HP:0000545Myopia0ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM1119023216612078
HP:0000545HP:0000545Myopia0ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM191623216612078
HP:0000545HP:0025573Mild myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA191457603234
HP:0000545HP:0011003High myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA191457603234
HP:0000545HP:0500066Latent myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA1113757603234
HP:0000545HP:0031624Moderate myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA1113757603234
HP:0000545HP:0031730Axial myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA1113757603234
HP:0000545HP:0500066Latent myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA191457603234
HP:0000545HP:0031624Moderate myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA191457603234
HP:0000545HP:0031730Axial myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA191457603234
HP:0000545HP:0025573Mild myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA1113757603234
HP:0000545HP:0011003High myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA1113757603234
HP:0000545HP:0025573Mild myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000545HP:0011003High myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000545HP:0025573Mild myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000545HP:0011003High myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000545HP:0500066Latent myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000545HP:0031624Moderate myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000545HP:0031730Axial myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0000545HP:0500066Latent myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000545HP:0031624Moderate myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000545HP:0031730Axial myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0000545HP:0011003High myopia1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000545HP:0025573Mild myopia1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000545HP:0011003High myopia1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000545HP:0025573Mild myopia1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000545HP:0031730Axial myopia1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000545HP:0500066Latent myopia1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000545HP:0031624Moderate myopia1ACOX1 CL E G H512971ORPHA1435119609751
HP:0000545HP:0031730Axial myopia1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000545HP:0500066Latent myopia1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000545HP:0031624Moderate myopia1ACOX1 CL E G H512971ORPHA1388119609751
HP:0000545HP:0500066Latent myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM175117109607511
HP:0000545HP:0031624Moderate myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM175117109607511
HP:0000545HP:0031730Axial myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM175117109607511
HP:0000545HP:0500066Latent myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM159917109607511
HP:0000545HP:0031624Moderate myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM159917109607511
HP:0000545HP:0031730Axial myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM159917109607511
HP:0000545HP:0011003High myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM175117109607511
HP:0000545HP:0025573Mild myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM175117109607511
HP:0000545HP:0011003High myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM159917109607511
HP:0000545HP:0025573Mild myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM159917109607511
HP:0000545HP:0011003High myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0000545HP:0025573Mild myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0000545HP:0011003High myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0000545HP:0025573Mild myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0000545HP:0031730Axial myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0000545HP:0500066Latent myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0000545HP:0031624Moderate myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0000545HP:0031730Axial myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0000545HP:0500066Latent myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0000545HP:0031624Moderate myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0000545HP:0031730Axial myopia1ADAMTSL1 CL E G H92949521445ORPHA111214632609198
HP:0000545HP:0031624Moderate myopia1ADAMTSL1 CL E G H92949521445ORPHA111214632609198
HP:0000545HP:0025573Mild myopia1ADAMTSL1 CL E G H92949521445ORPHA111214632609198
HP:0000545HP:0500066Latent myopia1ADAMTSL1 CL E G H92949521445ORPHA111214632609198
HP:0000545HP:0011003High myopia1ADAMTSL1 CL E G H92949521445ORPHA111214632609198
HP:0000545HP:0011003High myopia1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000545HP:0025573Mild myopia1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000545HP:0011003High myopia1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000545HP:0025573Mild myopia1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000545HP:0031730Axial myopia1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000545HP:0500066Latent myopia1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000545HP:0031624Moderate myopia1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000545HP:0500066Latent myopia1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000545HP:0031624Moderate myopia1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000545HP:0031730Axial myopia1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000545HP:0031624Moderate myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM137726147615900
HP:0000545HP:0031730Axial myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM137726147615900
HP:0000545HP:0500066Latent myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM137726147615900
HP:0000545HP:0031624Moderate myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM126526147615900
HP:0000545HP:0031730Axial myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM126526147615900
HP:0000545HP:0500066Latent myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM126526147615900
HP:0000545HP:0025573Mild myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM137726147615900
HP:0000545HP:0011003High myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM137726147615900
HP:0000545HP:0025573Mild myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM126526147615900
HP:0000545HP:0011003High myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM126526147615900
HP:0000545HP:0025573Mild myopia1AGK CL E G H557501369ORPHA123621869610345
HP:0000545HP:0011003High myopia1AGK CL E G H557501369ORPHA123621869610345
HP:0000545HP:0011003High myopia1AGK CL E G H557501369ORPHA122021869610345
HP:0000545HP:0025573Mild myopia1AGK CL E G H557501369ORPHA122021869610345
HP:0000545HP:0031624Moderate myopia1AGK CL E G H557501369ORPHA123621869610345
HP:0000545HP:0031730Axial myopia1AGK CL E G H557501369ORPHA123621869610345
HP:0000545HP:0500066Latent myopia1AGK CL E G H557501369ORPHA123621869610345
HP:0000545HP:0031624Moderate myopia1AGK CL E G H557501369ORPHA122021869610345
HP:0000545HP:0031730Axial myopia1AGK CL E G H557501369ORPHA122021869610345
HP:0000545HP:0500066Latent myopia1AGK CL E G H557501369ORPHA122021869610345
HP:0000545HP:0011003High myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0000545HP:0025573Mild myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0000545HP:0011003High myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0000545HP:0025573Mild myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0000545HP:0500066Latent myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0000545HP:0031624Moderate myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0000545HP:0031730Axial myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM123621869610345
HP:0000545HP:0500066Latent myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0000545HP:0031624Moderate myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0000545HP:0031730Axial myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM122021869610345
HP:0000545HP:0031730Axial myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0000545HP:0500066Latent myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0000545HP:0031624Moderate myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0000545HP:0031730Axial myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0000545HP:0500066Latent myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0000545HP:0031624Moderate myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0000545HP:0011003High myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0000545HP:0025573Mild myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1417391164730
HP:0000545HP:0011003High myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0000545HP:0025573Mild myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1380391164730
HP:0000545HP:0011003High myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0000545HP:0025573Mild myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0000545HP:0011003High myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0000545HP:0025573Mild myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0000545HP:0031730Axial myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0000545HP:0500066Latent myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0000545HP:0031624Moderate myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0000545HP:0031730Axial myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0000545HP:0500066Latent myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0000545HP:0031624Moderate myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0000545HP:0025573Mild myopia1ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0000545HP:0011003High myopia1ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0000545HP:0500066Latent myopia1ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0000545HP:0031624Moderate myopia1ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0000545HP:0031730Axial myopia1ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0000545HP:0031624Moderate myopia1ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0000545HP:0031730Axial myopia1ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0000545HP:0500066Latent myopia1ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0000545HP:0025573Mild myopia1ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0000545HP:0011003High myopia1ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0000545HP:0031624Moderate myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000545HP:0031730Axial myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000545HP:0500066Latent myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000545HP:0031624Moderate myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000545HP:0031730Axial myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000545HP:0500066Latent myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000545HP:0011003High myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000545HP:0025573Mild myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0000545HP:0011003High myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000545HP:0025573Mild myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0000545HP:0031730Axial myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000545HP:0500066Latent myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000545HP:0031624Moderate myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000545HP:0031730Axial myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000545HP:0500066Latent myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000545HP:0031624Moderate myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000545HP:0011003High myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000545HP:0025573Mild myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM195818040614556
HP:0000545HP:0011003High myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000545HP:0025573Mild myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM186618040614556
HP:0000545HP:0031730Axial myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000545HP:0500066Latent myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000545HP:0031624Moderate myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000545HP:0011003High myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000545HP:0025573Mild myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000545HP:0011003High myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000545HP:0025573Mild myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM129818318612990
HP:0000545HP:0031730Axial myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000545HP:0500066Latent myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000545HP:0031624Moderate myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM138818318612990
HP:0000545HP:0500066Latent myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000545HP:0031624Moderate myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000545HP:0031730Axial myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000545HP:0500066Latent myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000545HP:0031624Moderate myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000545HP:0031730Axial myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000545HP:0011003High myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000545HP:0025573Mild myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0000545HP:0011003High myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000545HP:0025573Mild myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0000545HP:0025573Mild myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0000545HP:0011003High myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0000545HP:0025573Mild myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0000545HP:0011003High myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0000545HP:0500066Latent myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0000545HP:0031624Moderate myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0000545HP:0031730Axial myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM145818481611716
HP:0000545HP:0500066Latent myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0000545HP:0031624Moderate myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0000545HP:0031730Axial myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM141718481611716
HP:0000545HP:0011003High myopia1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000545HP:0025573Mild myopia1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000545HP:0031730Axial myopia1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000545HP:0500066Latent myopia1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000545HP:0031624Moderate myopia1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000545HP:0031730Axial myopia1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000545HP:0500066Latent myopia1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000545HP:0031624Moderate myopia1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0000545HP:0011003High myopia1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000545HP:0025573Mild myopia1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0000545HP:0500066Latent myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0000545HP:0031624Moderate myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0000545HP:0031730Axial myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0000545HP:0500066Latent myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0000545HP:0031624Moderate myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0000545HP:0031730Axial myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0000545HP:0025573Mild myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0000545HP:0011003High myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0000545HP:0025573Mild myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0000545HP:0011003High myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0000545HP:0031730Axial myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000545HP:0500066Latent myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000545HP:0031624Moderate myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000545HP:0011003High myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000545HP:0025573Mild myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000545HP:0011003High myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000545HP:0025573Mild myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000545HP:0031624Moderate myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000545HP:0031730Axial myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000545HP:0500066Latent myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000545HP:0031730Axial myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000545HP:0500066Latent myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000545HP:0031624Moderate myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000545HP:0011003High myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000545HP:0025573Mild myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000545HP:0011003High myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000545HP:0025573Mild myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000545HP:0031730Axial myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000545HP:0500066Latent myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000545HP:0031624Moderate myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000545HP:0011003High myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000545HP:0025573Mild myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000545HP:0011003High myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000545HP:0025573Mild myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000545HP:0031730Axial myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000545HP:0500066Latent myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000545HP:0031624Moderate myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0000545HP:0031730Axial myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000545HP:0500066Latent myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000545HP:0031624Moderate myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0000545HP:0031624Moderate myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0000545HP:0031730Axial myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0000545HP:0500066Latent myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0000545HP:0031624Moderate myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0000545HP:0031730Axial myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0000545HP:0500066Latent myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0000545HP:0025573Mild myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0000545HP:0011003High myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM119713222606558
HP:0000545HP:0025573Mild myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0000545HP:0011003High myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM111813222606558
HP:0000545HP:0031730Axial myopia1BFSP2 CL E G H8419611597Cataract 12, multiple types611597C3808115OMIM1991041603212
HP:0000545HP:0500066Latent myopia1