Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of refraction (HP:0000539)help
..Starting node
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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 deficiencyORPHA138082157603234
HP:0000545HP:0000545Myopia0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0000545HP:0000545Myopia0ACOX1 CL E G H512971ORPHA126257119609751
HP:0000545HP:0000545Myopia0ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1848217109607511
HP:0000545HP:0000545Myopia0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112577218604539
HP:0000545HP:0000545Myopia0ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000545HP:0000545Myopia0ADGRV1 CL E G H84059231178ORPHA1249147917416602851
HP:0000545HP:0000545Myopia0AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM1911426147615900
HP:0000545HP:0000545Myopia0AGK CL E G H557501369ORPHA12718621869610345
HP:0000545HP:0000545Myopia0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0000545HP:0000545Myopia0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112269391164730
HP:0000545HP:0000545Myopia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000545HP:0000545Myopia0ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0000545HP:0000545Myopia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0000545HP:0000545Myopia0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000545HP:0000545Myopia0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000545HP:0000545Myopia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0000545HP:0000545Myopia0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0000545HP:0000545Myopia0B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000545HP:0000545Myopia0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000545HP:0000545Myopia0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0000545HP:0000545Myopia0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000545HP:0000545Myopia0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0000545HP:0000545Myopia0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM1126513222606558
HP:0000545HP:0000545Myopia0BFSP2 CL E G H8419611597Cataract 12, multiple types611597C3808115OMIM17641041603212
HP:0000545HP:0000545Myopia0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0000545HP:0000545Myopia0BPTF CL E G H2186529962ORPHA114803581601819
HP:0000545HP:0000545Myopia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000545HP:0000545Myopia0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000545HP:0000545Myopia0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000545HP:0000545Myopia0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0000545HP:0000545Myopia0C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM11711927232614477
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778178333ORPHA11854081393300110
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11854081393300110
HP:0000545HP:0000545Myopia0CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM11854081393300110
HP:0000545HP:0000545Myopia0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0000545HP:0000545Myopia0CASK CL E G H8573163937ORPHA11194461497300172
HP:0000545HP:0000545Myopia0CBS CL E G H875394ORPHA12146111550613381
HP:0000545HP:0000545Myopia0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0000545HP:0000545Myopia0CHM CL E G H1121180ORPHA12883481940300390
HP:0000545HP:0000545Myopia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0000545HP:0000545Myopia0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000545HP:0000545Myopia0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0000545HP:0000545Myopia0CLDN19 CL E G H1494612196Esophageal atresia coloboma talipesORPHA121962040610036
HP:0000545HP:0000545Myopia0CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM121962040610036
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000545HP:0000545Myopia0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000545HP:0000545Myopia0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA1594712187120290
HP:0000545HP:0000545Myopia0COL18A1 CL E G H807811571ORPHA1364472195120328
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128093316ORPHA15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280166011ORPHA15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0000545HP:0000545Myopia0COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM15707312200120140
HP:0000545HP:0000545Myopia0COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0000545HP:0000545Myopia0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12726132204120070
HP:0000545HP:0000545Myopia0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12336882206120131
HP:0000545HP:0000545Myopia0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0000545HP:0000545Myopia0COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0000545HP:0000545Myopia0COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000545HP:0000545Myopia0COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000545HP:0000545Myopia0COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000545HP:0000545Myopia0CRYAA CL E G H14091377ORPHA1271292388123580
HP:0000545HP:0000545Myopia0CRYBA4 CL E G H14131377ORPHA110842396123631
HP:0000545HP:0000545Myopia0CRYBB1 CL E G H14141377ORPHA120652397600929
HP:0000545HP:0000545Myopia0CRYBB2 CL E G H14151377ORPHA127532398123620
HP:0000545HP:0000545Myopia0CRYGC CL E G H14201377ORPHA128502410123680
HP:0000545HP:0000545Myopia0CRYGD CL E G H14211377ORPHA127732411123690
HP:0000545HP:0000545Myopia0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0000545HP:0000545Myopia0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000545HP:0000545Myopia0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0000545HP:0000545Myopia0DPYD CL E G H1806293948ORPHA11242853012612779
HP:0000545HP:0000545Myopia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000545HP:0000545Myopia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000545HP:0000545Myopia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0000545HP:0000545Myopia0ENPP1 CL E G H5167758Apo A-I deficiencyORPHA1772743356173335
HP:0000545HP:0000545Myopia0EPHA2 CL E G H1969116600Cataract 6, multiple types116600C1861825OMIM1221713386176946
HP:0000545HP:0000545Myopia0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000545HP:0000545Myopia0FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM14552125568611360
HP:0000545HP:0000545Myopia0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0000545HP:0000545Myopia0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0000545HP:0000545Myopia0FKBP14 CL E G H55033300179ORPHA168618625614505
HP:0000545HP:0000545Myopia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM168618625614505
HP:0000545HP:0000545Myopia0FKRP CL E G H79147588ORPHA114140217997606596
HP:0000545HP:0000545Myopia0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000545HP:0000545Myopia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000545HP:0000545Myopia0FKTN CL E G H2218588ORPHA1594503622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000545HP:0000545Myopia0FKTN CL E G H2218272VACTERL hydrocephalyORPHA1594503622607440
HP:0000545HP:0000545Myopia0FLII CL E G H2314819ORPHA121533750600362
HP:0000545HP:0000545Myopia0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000545HP:0000545Myopia0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000545HP:0000545Myopia0GJA8 CL E G H27031377ORPHA1633474281600897
HP:0000545HP:0000545Myopia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15713317494608803
HP:0000545HP:0000545Myopia0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM1191254329138492
HP:0000545HP:0000545Myopia0GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000545HP:0000545Myopia0GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0000545HP:0000545Myopia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM111774446603048
HP:0000545HP:0000545Myopia0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM11623131371614515
HP:0000545HP:0000545Myopia0GRM6 CL E G H2916257270Congenital stationary night blindness, type 1B257270C1850362OMIM1382264598604096
HP:0000545HP:0000545Myopia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0000545HP:0000545Myopia0HACE1 CL E G H57531464282ORPHA1136321033610876
HP:0000545HP:0000545Myopia0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0000545HP:0000545Myopia0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0000545HP:0000545Myopia0HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0000545HP:0000545Myopia0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0000545HP:0000545Myopia0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0000545HP:0000545Myopia0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0000545HP:0000545Myopia0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000545HP:0000545Myopia0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000545HP:0000545Myopia0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000545HP:0000545Myopia0KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM19439719698607604
HP:0000545HP:0000545Myopia0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1335818039605393
HP:0000545HP:0000545Myopia0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000545HP:0000545Myopia0KIF11 CL E G H38322526ORPHA1701726388148760
HP:0000545HP:0000545Myopia0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0000545HP:0000545Myopia0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000545HP:0000545Myopia0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000545HP:0000545Myopia0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM1433496481150320
HP:0000545HP:0000545Myopia0LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM11273686487150325
HP:0000545HP:0000545Myopia0LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0000545HP:0000545Myopia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000545HP:0000545Myopia0LRIT3 CL E G H345193615058Congenital stationary night blindness, type 1F615058C3554399OMIM1914524783615004
HP:0000545HP:0000545Myopia0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000545HP:0000545Myopia0LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1292996715602091
HP:0000545HP:0000545Myopia0LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0000545HP:0000545Myopia0MAF CL E G H40941377ORPHA1221726776177075
HP:0000545HP:0000545Myopia0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0000545HP:0000545Myopia0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000545HP:0000545Myopia0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0000545HP:0000545Myopia0MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0000545HP:0000545Myopia0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000545HP:0000545Myopia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000545HP:0000545Myopia0MYO5A CL E G H464433445ORPHA1121167602160777
HP:0000545HP:0000545Myopia0MYO7A CL E G H4647231178ORPHA152712577606276903
HP:0000545HP:0000545Myopia0MYOC CL E G H4653137750Primary open angle glaucoma juvenile onset 1137750C1842028OMIM11431037610601652
HP:0000545HP:0000545Myopia0NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM1616320372300403
HP:0000545HP:0000545Myopia0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0000545HP:0000545Myopia0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000545HP:0000545Myopia0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0000545HP:0000545Myopia0NSD1 CL E G H64324228415ORPHA152589614234606681
HP:0000545HP:0000545Myopia0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM181008022600417
HP:0000545HP:0000545Myopia0NYX CL E G H60506310500Congenital stationary night blindness, type 1A310500C3495587OMIM1912568082300278
HP:0000545HP:0000545Myopia0OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM1722178091613349
HP:0000545HP:0000545Myopia0OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM13165388101611409
HP:0000545HP:0000545Myopia0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0000545HP:0000545Myopia0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0000545HP:0000545Myopia0OPTN CL E G H10133137760Primary open angle glaucoma137760C0339573OMIM17215817142602432
HP:0000545HP:0000545Myopia0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000545HP:0000545Myopia0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000545HP:0000545Myopia0PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA198938616167409
HP:0000545HP:0000545Myopia0PCYT1A CL E G H513085167ORPHA1201438754123695
HP:0000545HP:0000545Myopia0PDZD7 CL E G H79955231178ORPHA11920526257612971
HP:0000545HP:0000545Myopia0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM1573798975171834
HP:0000545HP:0000545Myopia0PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000545HP:0000545Myopia0PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000545HP:0000545Myopia0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0000545HP:0000545Myopia0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000545HP:0000545Myopia0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000545HP:0000545Myopia0POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0000545HP:0000545Myopia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19230630074614258
HP:0000545HP:0000545Myopia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15812730348614366
HP:0000545HP:0000545Myopia0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM15812730348614366
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624588ORPHA18946119139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM18946119139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM18946119139606822
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000545HP:0000545Myopia0POMT1 CL E G H10585588ORPHA1965089202607423
HP:0000545HP:0000545Myopia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954588ORPHA17550219743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0000545HP:0000545Myopia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000545HP:0000545Myopia0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0000545HP:0000545Myopia0PRDM5 CL E G H11107614170Brittle cornea syndrome 2614170C3280011OMIM1131319349614161
HP:0000545HP:0000545Myopia0PRIMPOL CL E G H201973615420Myopia 22, autosomal dominant615420C3809464OMIM1210626575615421
HP:0000545HP:0000545Myopia0PSMD12 CL E G H5718529962ORPHA110359557604450
HP:0000545HP:0000545Myopia0PTEN CL E G H57282969ORPHA165820199588601728
HP:0000545HP:0000545Myopia0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM165820199588601728
HP:0000545HP:0000545Myopia0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0000545HP:0000545Myopia0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0000545HP:0000545Myopia0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000545HP:0000545Myopia0RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0000545HP:0000545Myopia0RMRP CL E G H6023175ORPHA112341110031157660
HP:0000545HP:0000545Myopia0RP1 CL E G H6101180100Retinitis pigmentosa 1180100C0220701OMIM119045810263603937
HP:0000545HP:0000545Myopia0RP2 CL E G H6102312600Retinitis pigmentosa 2312600C2681923OMIM112128910274300757
HP:0000545HP:0000545Myopia0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0000545HP:0000545Myopia0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0000545HP:0000545Myopia0SCO2 CL E G H9997608908Myopia 6608908C1837148OMIM13727510604604272
HP:0000545HP:0000545Myopia0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0000545HP:0000545Myopia0SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13823625566615743
HP:0000545HP:0000545Myopia0SLC25A4 CL E G H2911369ORPHA11723410990103220
HP:0000545HP:0000545Myopia0SLC39A5 CL E G H283375615946Myopia 24, autosomal dominant615946C4014762OMIM181920502608730
HP:0000545HP:0000545Myopia0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0000545HP:0000545Myopia0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0000545HP:0000545Myopia0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0000545HP:0000545Myopia0SOX5 CL E G H6660313892ORPHA12914611201604975
HP:0000545HP:0000545Myopia0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000545HP:0000545Myopia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0000545HP:0000545Myopia0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000545HP:0000545Myopia0TEAD1 CL E G H7003108985Sveinsson chorioretinal atrophy108985C1862382OMIM123311714189967
HP:0000545HP:0000545Myopia0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000545HP:0000545Myopia0THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM196728369615403
HP:0000545HP:0000545Myopia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0000545HP:0000545Myopia0TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0000545HP:0000545Myopia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11735125751614138
HP:0000545HP:0000545Myopia0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM162820286617840
HP:0000545HP:0000545Myopia0TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM12624817341612907
HP:0000545HP:0000545Myopia0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1845307146603576
HP:0000545HP:0000545Myopia0TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM139812406601197
HP:0000545HP:0000545Myopia0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17520812423602280
HP:0000545HP:0000545Myopia0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0000545HP:0000545Myopia0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144522612442606933
HP:0000545HP:0000545Myopia0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0000545HP:0000545Myopia0UBE3B CL E G H899102707ORPHA1255413478608047
HP:0000545HP:0000545Myopia0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000545HP:0000545Myopia0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM165912513191342
HP:0000545HP:0000545Myopia0USH2A CL E G H7399231178ORPHA11234235412601608400
HP:0000545HP:0000545Myopia0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000545HP:0000545Myopia0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM1812651192150
HP:0000545HP:0000545Myopia0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1244392464118661
HP:0000545HP:0000545Myopia0VPS13B CL E G H157680193ORPHA121316062183607817
HP:0000545HP:0000545Myopia0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000545HP:0000545Myopia0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000545HP:0000545Myopia0WDR19 CL E G H57728614376Asphyxiating thoracic dystrophy 5614376C3280598OMIM14529418340608151
HP:0000545HP:0000545Myopia0WHRN CL E G H25861231178ORPHA13234816361607928
HP:0000545HP:0000545Myopia0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM113612843607472
HP:0000545HP:0000545Myopia0ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM11411220041616454
HP:0000545HP:0000545Myopia0ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM16964123216612078
HP:0000545HP:0000545Myopia1ABCC6 CL E G H368758Apo A-I deficiencyORPHA138082157603234
HP:0000545HP:0000545Myopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0000545HP:0000545Myopia1ACOX1 CL E G H512971ORPHA126257119609751
HP:0000545HP:0000545Myopia1ADAMTS17 CL E G H170691613195Weill-Marchesani-like syndrome613195C2750787OMIM1848217109607511
HP:0000545HP:0000545Myopia1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112577218604539
HP:0000545HP:0000545Myopia1ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000545HP:0000545Myopia1ADGRV1 CL E G H84059231178ORPHA1249147917416602851
HP:0000545HP:0000545Myopia1AGBL5 CL E G H60509617023Retinitis pigmentosa 75617023C4310759OMIM1911426147615900
HP:0000545HP:0000545Myopia1AGK CL E G H557501369ORPHA12718621869610345
HP:0000545HP:0000545Myopia1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0000545HP:0000545Myopia1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112269391164730
HP:0000545HP:0000545Myopia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0000545HP:0000545Myopia1ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0000545HP:0000545Myopia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0000545HP:0000545Myopia1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000545HP:0000545Myopia1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000545HP:0000545Myopia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11718625567612316
HP:0000545HP:0000545Myopia1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0000545HP:0000545Myopia1B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0000545HP:0000545Myopia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000545HP:0000545Myopia1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM14023217978615291
HP:0000545HP:0000545Myopia1B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0000545HP:0000545Myopia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105309966209901
HP:0000545HP:0000545Myopia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM1126513222606558
HP:0000545HP:0000545Myopia1BFSP2 CL E G H8419611597Cataract 12, multiple types611597C3808115OMIM17641041603212
HP:0000545HP:0000545Myopia1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0000545HP:0000545Myopia1BPTF CL E G H2186529962ORPHA114803581601819
HP:0000545HP:0000545Myopia1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000545HP:0000545Myopia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA1684901097164757
HP:0000545HP:0000545Myopia1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684901097164757
HP:0000545HP:0000545Myopia1C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0000545HP:0000545Myopia1C8orf37 CL E G H157657617406Bardet-Biedl syndrome 21617406C4319932OMIM11711927232614477
HP:0000545HP:0000545Myopia1CACNA1F CL E G H778178333ORPHA11854081393300110
HP:0000545HP:0000545Myopia1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11854081393300110
HP:0000545HP:0000545Myopia1CACNA1F CL E G H778300600Ocular albinism, type II300600C0268505OMIM11854081393300110
HP:0000545HP:0000545Myopia1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0000545HP:0000545Myopia1CASK CL E G H8573163937ORPHA11194461497300172
HP:0000545HP:0000545Myopia1CBS CL E G H875394ORPHA12146111550613381
HP:0000545HP:0000545Myopia1CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0000545HP:0000545Myopia1CHM CL E G H1121180ORPHA12883481940300390
HP:0000545HP:0000545Myopia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0000545HP:0000545Myopia1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000545HP:0000545Myopia1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0000545HP:0000545Myopia1CLDN19 CL E G H1494612196Esophageal atresia coloboma talipesORPHA121962040610036
HP:0000545HP:0000545Myopia1CLDN19 CL E G H149461248190Hypomagnesemia 5, renal, with ocular involvement248190C1855466OMIM121962040610036
HP:0000545HP:0000545Myopia1COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000545HP:0000545Myopia1COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000545HP:0000545Myopia1COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000545HP:0000545Myopia1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000545HP:0000545Myopia1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000545HP:0000545Myopia1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA1594712187120290
HP:0000545HP:0000545Myopia1COL18A1 CL E G H807811571ORPHA1364472195120328
HP:0000545HP:0000545Myopia1COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H128093316ORPHA15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H1280166011ORPHA15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H1280132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness132450C1851536OMIM15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H1280184250Spondylometaphyseal dysplasia184250C0700635OMIM15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0000545HP:0000545Myopia1COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM15707312200120140
HP:0000545HP:0000545Myopia1COL4A3 CL E G H1285104200Alport syndrome, autosomal dominant104200C1567743OMIM12726132204120070
HP:0000545HP:0000545Myopia1COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12726132204120070
HP:0000545HP:0000545Myopia1COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12336882206120131
HP:0000545HP:0000545Myopia1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0000545HP:0000545Myopia1COL5A1 CL E G H1289130000Ehlers-Danlos syndrome, classic type130000C0268335OMIM115916302209120215
HP:0000545HP:0000545Myopia1COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000545HP:0000545Myopia1COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000545HP:0000545Myopia1COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000545HP:0000545Myopia1CRYAA CL E G H14091377ORPHA1271292388123580
HP:0000545HP:0000545Myopia1CRYBA4 CL E G H14131377ORPHA110842396123631
HP:0000545HP:0000545Myopia1CRYBB1 CL E G H14141377ORPHA120652397600929
HP:0000545HP:0000545Myopia1CRYBB2 CL E G H14151377ORPHA127532398123620
HP:0000545HP:0000545Myopia1CRYGC CL E G H14201377ORPHA128502410123680
HP:0000545HP:0000545Myopia1CRYGD CL E G H14211377ORPHA127732411123690
HP:0000545HP:0000545Myopia1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1113012666128239
HP:0000545HP:0000545Myopia1DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000545HP:0000545Myopia1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0000545HP:0000545Myopia1DPYD CL E G H1806293948ORPHA11242853012612779
HP:0000545HP:0000545Myopia1EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM19493188605984
HP:0000545HP:0000545Myopia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM151783267300161
HP:0000545HP:0000545Myopia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0000545HP:0000545Myopia1ENPP1 CL E G H5167758Apo A-I deficiencyORPHA1772743356173335
HP:0000545HP:0000545Myopia1EPHA2 CL E G H1969116600Cataract 6, multiple types116600C1861825OMIM1221713386176946
HP:0000545HP:0000545Myopia1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000545HP:0000545Myopia1FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM14552125568611360
HP:0000545HP:0000545Myopia1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0000545HP:0000545Myopia1FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0000545HP:0000545Myopia1FKBP14 CL E G H55033300179ORPHA168618625614505
HP:0000545HP:0000545Myopia1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM168618625614505
HP:0000545HP:0000545Myopia1FKRP CL E G H79147588ORPHA114140217997606596
HP:0000545HP:0000545Myopia1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000545HP:0000545Myopia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000545HP:0000545Myopia1FKTN CL E G H2218588ORPHA1594503622607440
HP:0000545HP:0000545Myopia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000545HP:0000545Myopia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000545HP:0000545Myopia1FKTN CL E G H2218272VACTERL hydrocephalyORPHA1594503622607440
HP:0000545HP:0000545Myopia1FLII CL E G H2314819ORPHA121533750600362
HP:0000545HP:0000545Myopia1GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000545HP:0000545Myopia1GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000545HP:0000545Myopia1GJA8 CL E G H27031377ORPHA1633474281600897
HP:0000545HP:0000545Myopia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15713317494608803
HP:0000545HP:0000545Myopia1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM1191254329138492
HP:0000545HP:0000545Myopia1GMPPB CL E G H29925588ORPHA14915122932615320
HP:0000545HP:0000545Myopia1GNPTG CL E G H84572252605Mucolipidosis III Gamma252605C1854896OMIM14927123026607838
HP:0000545HP:0000545Myopia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM111774446603048
HP:0000545HP:0000545Myopia1GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM11623131371614515
HP:0000545HP:0000545Myopia1GRM6 CL E G H2916257270Congenital stationary night blindness, type 1B257270C1850362OMIM1382264598604096
HP:0000545HP:0000545Myopia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM15214670607434
HP:0000545HP:0000545Myopia1HACE1 CL E G H57531464282ORPHA1136321033610876
HP:0000545HP:0000545Myopia1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0000545HP:0000545Myopia1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0000545HP:0000545Myopia1HSPG2 CL E G H3339800ORPHA1678625273142461
HP:0000545HP:0000545Myopia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0000545HP:0000545Myopia1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12828618873606951
HP:0000545HP:0000545Myopia1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM12319913556606045
HP:0000545HP:0000545Myopia1IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000545HP:0000545Myopia1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000545HP:0000545Myopia1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000545HP:0000545Myopia1KCNV2 CL E G H169522610356Retinal cone dystrophy 3B610356C1835897OMIM19439719698607604
HP:0000545HP:0000545Myopia1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM1335818039605393
HP:0000545HP:0000545Myopia1KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000545HP:0000545Myopia1KIF11 CL E G H38322526ORPHA1701726388148760
HP:0000545HP:0000545Myopia1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0000545HP:0000545Myopia1KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000545HP:0000545Myopia1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA1452746407190070
HP:0000545HP:0000545Myopia1LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM1433496481150320
HP:0000545HP:0000545Myopia1LAMB2 CL E G H3913614199Nephrotic syndrome, type 5, with or without ocular abnormalities614199C3280113OMIM11273686487150325
HP:0000545HP:0000545Myopia1LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0000545HP:0000545Myopia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000545HP:0000545Myopia1LRIT3 CL E G H345193615058Congenital stationary night blindness, type 1F615058C3554399OMIM1914524783615004
HP:0000545HP:0000545Myopia1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000545HP:0000545Myopia1LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM1292996715602091
HP:0000545HP:0000545Myopia1LTBP2 CL E G H4053614819Weill-Marchesani syndrome 3614819C3553785OMIM1292996715602091
HP:0000545HP:0000545Myopia1MAF CL E G H40941377ORPHA1221726776177075
HP:0000545HP:0000545Myopia1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM1204536814605283
HP:0000545HP:0000545Myopia1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA1232136840176872
HP:0000545HP:0000545Myopia1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232136840176872
HP:0000545HP:0000545Myopia1MAP2K2 CL E G H5605615280Cardiofaciocutaneous syndrome 4615280C3809007OMIM1353386842601263
HP:0000545HP:0000545Myopia1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA1353386842601263
HP:0000545HP:0000545Myopia1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000545HP:0000545Myopia1MYO5A CL E G H464433445ORPHA1121167602160777
HP:0000545HP:0000545Myopia1MYO7A CL E G H4647231178ORPHA152712577606276903
HP:0000545HP:0000545Myopia1MYOC CL E G H4653137750Primary open angle glaucoma juvenile onset 1137750C1842028OMIM11431037610601652
HP:0000545HP:0000545Myopia1NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM1616320372300403
HP:0000545HP:0000545Myopia1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0000545HP:0000545Myopia1NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000545HP:0000545Myopia1NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0000545HP:0000545Myopia1NSD1 CL E G H64324228415ORPHA152589614234606681
HP:0000545HP:0000545Myopia1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM181008022600417
HP:0000545HP:0000545Myopia1NYX CL E G H60506310500Congenital stationary night blindness, type 1A310500C3495587OMIM1912568082300278
HP:0000545HP:0000545Myopia1OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM1722178091613349
HP:0000545HP:0000545Myopia1OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM13165388101611409
HP:0000545HP:0000545Myopia1OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0000545HP:0000545Myopia1OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0000545HP:0000545Myopia1OPTN CL E G H10133137760Primary open angle glaucoma137760C0339573OMIM17215817142602432
HP:0000545HP:0000545Myopia1PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0000545HP:0000545Myopia1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000545HP:0000545Myopia1PAX2 CL E G H50761475Congenital bronchobiliary fistulaORPHA198938616167409
HP:0000545HP:0000545Myopia1PCYT1A CL E G H513085167ORPHA1201438754123695
HP:0000545HP:0000545Myopia1PDZD7 CL E G H79955231178ORPHA11920526257612971
HP:0000545HP:0000545Myopia1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM1573798975171834
HP:0000545HP:0000545Myopia1PIK3R1 CL E G H5295269880SHORT syndrome269880C0878684OMIM1291568979171833
HP:0000545HP:0000545Myopia1PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000545HP:0000545Myopia1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0000545HP:0000545Myopia1PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000545HP:0000545Myopia1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000545HP:0000545Myopia1POLR3A CL E G H11128447896ORPHA19230630074614258
HP:0000545HP:0000545Myopia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM19230630074614258
HP:0000545HP:0000545Myopia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM15812730348614366
HP:0000545HP:0000545Myopia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM15812730348614366
HP:0000545HP:0000545Myopia1POMGNT1 CL E G H55624588ORPHA18946119139606822
HP:0000545HP:0000545Myopia1POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM18946119139606822
HP:0000545HP:0000545Myopia1POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM18946119139606822
HP:0000545HP:0000545Myopia1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18946119139606822
HP:0000545HP:0000545Myopia1POMT1 CL E G H10585588ORPHA1965089202607423
HP:0000545HP:0000545Myopia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000545HP:0000545Myopia1POMT2 CL E G H29954588ORPHA17550219743607439
HP:0000545HP:0000545Myopia1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000545HP:0000545Myopia1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0000545HP:0000545Myopia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000545HP:0000545Myopia1PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0000545HP:0000545Myopia1PRDM5 CL E G H11107614170Brittle cornea syndrome 2614170C3280011OMIM1131319349614161
HP:0000545HP:0000545Myopia1PRIMPOL CL E G H201973615420Myopia 22, autosomal dominant615420C3809464OMIM1210626575615421
HP:0000545HP:0000545Myopia1PSMD12 CL E G H5718529962ORPHA110359557604450
HP:0000545HP:0000545Myopia1PTEN CL E G H57282969ORPHA165820199588601728
HP:0000545HP:0000545Myopia1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM165820199588601728
HP:0000545HP:0000545Myopia1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11434759644176876
HP:0000545HP:0000545Myopia1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0000545HP:0000545Myopia1RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000545HP:0000545Myopia1RECQL4 CL E G H9401218600Baller-Gerold syndrome218600C0265308OMIM112220289949603780
HP:0000545HP:0000545Myopia1RMRP CL E G H6023175ORPHA112341110031157660
HP:0000545HP:0000545Myopia1RP1 CL E G H6101180100Retinitis pigmentosa 1180100C0220701OMIM119045810263603937
HP:0000545HP:0000545Myopia1RP2 CL E G H6102312600Retinitis pigmentosa 2312600C2681923OMIM112128910274300757
HP:0000545HP:0000545Myopia1RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0000545HP:0000545Myopia1RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM1624210298312173
HP:0000545HP:0000545Myopia1SCO2 CL E G H9997608908Myopia 6608908C1837148OMIM13727510604604272
HP:0000545HP:0000545Myopia1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0000545HP:0000545Myopia1SETD5 CL E G H55209615761Mental retardation, autosomal dominant 23615761C3810406OMIM13823625566615743
HP:0000545HP:0000545Myopia1SLC25A4 CL E G H2911369ORPHA11723410990103220
HP:0000545HP:0000545Myopia1SLC39A5 CL E G H283375615946Myopia 24, autosomal dominant615946C4014762OMIM181920502608730
HP:0000545HP:0000545Myopia1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0000545HP:0000545Myopia1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0000545HP:0000545Myopia1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0000545HP:0000545Myopia1SOX5 CL E G H6660313892ORPHA12914611201604975
HP:0000545HP:0000545Myopia1SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000545HP:0000545Myopia1TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA114862411634602272
HP:0000545HP:0000545Myopia1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0000545HP:0000545Myopia1TEAD1 CL E G H7003108985Sveinsson chorioretinal atrophy108985C1862382OMIM123311714189967
HP:0000545HP:0000545Myopia1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000545HP:0000545Myopia1THOC6 CL E G H79228613680Beaulieu-Boycott-Innes syndrome613680C3150939OMIM196728369615403
HP:0000545HP:0000545Myopia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0000545HP:0000545Myopia1TMEM94 CL E G H9772618316618316618316OMIM132828983618163
HP:0000545HP:0000545Myopia1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11735125751614138
HP:0000545HP:0000545Myopia1TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM162820286617840
HP:0000545HP:0000545Myopia1TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM12624817341612907
HP:0000545HP:0000545Myopia1TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1845307146603576
HP:0000545HP:0000545Myopia1TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM139812406601197
HP:0000545HP:0000545Myopia1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17520812423602280
HP:0000545HP:0000545Myopia1TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0000545HP:0000545Myopia1TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144522612442606933
HP:0000545HP:0000545Myopia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0000545HP:0000545Myopia1UBE3B CL E G H899102707ORPHA1255413478608047
HP:0000545HP:0000545Myopia1UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000545HP:0000545Myopia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM165912513191342
HP:0000545HP:0000545Myopia1USH2A CL E G H7399231178ORPHA11234235412601608400
HP:0000545HP:0000545Myopia1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000545HP:0000545Myopia1VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM1812651192150
HP:0000545HP:0000545Myopia1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1244392464118661
HP:0000545HP:0000545Myopia1VPS13B CL E G H157680193ORPHA121316062183607817
HP:0000545HP:0000545Myopia1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0000545HP:0000545Myopia1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000545HP:0000545Myopia1WDR19 CL E G H57728614376Asphyxiating thoracic dystrophy 5614376C3280598OMIM14529418340608151
HP:0000545HP:0000545Myopia1WHRN CL E G H25861231178ORPHA13234816361607928
HP:0000545HP:0000545Myopia1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM113612843607472
HP:0000545HP:0000545Myopia1ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM11411220041616454
HP:0000545HP:0000545Myopia1ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM16964123216612078
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000545HP:0000545Myopia0ACSL4 CL E G H218286818ORPHA072093571300157
HP:0000545HP:0000545Myopia0AKT1 CL E G H207201ORPHA012269391164730
HP:0000545HP:0000545Myopia0AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012269391164730
HP:0000545HP:0000545Myopia0AMMECR1 CL E G H994986818ORPHA05181467300195
HP:0000545HP:0000545Myopia0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA013472121316611192
HP:0000545HP:0000545Myopia0ANTXR1 CL E G H841682067ORPHA0142421014606410
HP:0000545HP:0000545Myopia0ASXL1 CL E G H17102397297ORPHA04119918318612990
HP:0000545HP:0000545Myopia0ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0000545HP:0000545Myopia0ATRX CL E G H546847ORPHA0170663886300032
HP:0000545HP:0000545Myopia0B3GALT6 CL E G H12679293359ORPHA04023217978615291
HP:0000545HP:0000545Myopia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0000545HP:0000545Myopia0BMP4 CL E G H652139471ORPHA048891071112262
HP:0000545HP:0000545Myopia0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000545HP:0000545Myopia0BTD CL E G H68679241ORPHA02483711122609019
HP:0000545HP:0000545Myopia0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM02146111550613381
HP:0000545HP:0000545Myopia0CCNQ CL E G H92002140952ORPHA01122828434300708
HP:0000545HP:0000545Myopia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0000545HP:0000545Myopia0COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000545HP:0000545Myopia0COL2A1 CL E G H128094068ORPHA05707312200120140
HP:0000545HP:0000545Myopia0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000545HP:0000545Myopia0COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000545HP:0000545Myopia0COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000545HP:0000545Myopia0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0000545HP:0000545Myopia0CRYBA2 CL E G H1412115900Cataract, floriform115900C1861830OMIM02232395600836
HP:0000545HP:0000545Myopia0CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0000545HP:0000545Myopia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0000545HP:0000545Myopia0ELP1 CL E G H85181764ORPHA066605959603722
HP:0000545HP:0000545Myopia0FBN1 CL E G H22002462ORPHA0272142843603134797
HP:0000545HP:0000545Myopia0GPR143 CL E G H493554ORPHA018126120145300808
HP:0000545HP:0000545Myopia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0000545HP:0000545Myopia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0000545HP:0000545Myopia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM0136321033610876
HP:0000545HP:0000545Myopia0HADHA CL E G H30305ORPHA0713024801600890
HP:0000545HP:0000545Myopia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM064824868605837
HP:0000545HP:0000545Myopia0IFT122 CL E G H557641515ORPHA02319913556606045
HP:0000545HP:0000545Myopia0IFT43 CL E G H1127521515ORPHA076429669614068
HP:0000545HP:0000545Myopia0IFT52 CL E G H510981515ORPHA053415901617094
HP:0000545HP:0000545Myopia0IGF1 CL E G H347973272ORPHA0131675464147440
HP:0000545HP:0000545Myopia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03116109601491
HP:0000545HP:0000545Myopia0KCNE5 CL E G H2363086818ORPHA041736241300328
HP:0000545HP:0000545Myopia0KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0000545HP:0000545Myopia0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM0701726388148760
HP:0000545HP:0000545Myopia0KLHL7 CL E G H5597597297ORPHA01412715646611119
HP:0000545HP:0000545Myopia0KLLN CL E G H100144748201ORPHA0823837212612105
HP:0000545HP:0000545Myopia0LIG4 CL E G H3981235ORPHA0403176601601837
HP:0000545HP:0000545Myopia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0000545HP:0000545Myopia0LOX CL E G H4015617168Aortic aneurysm, familial thoracic 10617168C4284414OMIM09676664153455
HP:0000545HP:0000545Myopia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM0204536814605283
HP:0000545HP:0000545Myopia0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0000545HP:0000545Myopia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM0323317114603856
HP:0000545HP:0000545Myopia0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0000545HP:0000545Myopia0MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261057392123101
HP:0000545HP:0000545Myopia0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0000545HP:0000545Myopia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM023147675602117
HP:0000545HP:0000545Myopia0NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000545HP:0000545Myopia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03431190610922
HP:0000545HP:0000545Myopia0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM0141817989164790
HP:0000545HP:0000545Myopia0NSUN2 CL E G H54888235ORPHA0726025994610916
HP:0000545HP:0000545Myopia0NT5C2 CL E G H22978320396ORPHA081008022600417
HP:0000545HP:0000545Myopia0PIK3CA CL E G H5290201ORPHA0573798975171834
HP:0000545HP:0000545Myopia0POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0219220194610060
HP:0000545HP:0000545Myopia0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM0965089202607423
HP:0000545HP:0000545Myopia0PTEN CL E G H5728201ORPHA065820199588601728
HP:0000545HP:0000545Myopia0PTEN CL E G H5728744Aortic valves stenosis of the childORPHA065820199588601728
HP:0000545HP:0000545Myopia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031130089600161
HP:0000545HP:0000545Myopia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032233235611215
HP:0000545HP:0000545Myopia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0000545HP:0000545Myopia0SDHB CL E G H6390201ORPHA027966710681185470
HP:0000545HP:0000545Myopia0SDHC CL E G H6391201ORPHA06241510682602413
HP:0000545HP:0000545Myopia0SDHD CL E G H6392201ORPHA017436110683602690
HP:0000545HP:0000545Myopia0SEC23B CL E G H10483201ORPHA012614310702610512
HP:0000545HP:0000545Myopia0SH2B1 CL E G H25970261197ORPHA01616030417608937
HP:0000545HP:0000545Myopia0SIM1 CL E G H6492171829ORPHA05311610882603128
HP:0000545HP:0000545Myopia0SKI CL E G H64972462ORPHA02450210896164780
HP:0000545HP:0000545Myopia0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0000545HP:0000545Myopia0SLC12A6 CL E G H99901496Congenital mitral stenosisORPHA02038710914604878
HP:0000545HP:0000545Myopia0SLC2A10 CL E G H810313342ORPHA03533913444606145
HP:0000545HP:0000545Myopia0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM0282132468606062
HP:0000545HP:0000545Myopia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031333020609837
HP:0000545HP:0000545Myopia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM031433067605436
HP:0000545HP:0000545Myopia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM02538511164182279
HP:0000545HP:0000545Myopia0SON CL E G H6651500150ORPHA02822411183182465
HP:0000545HP:0000545Myopia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01724011535313650
HP:0000545HP:0000545Myopia0TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0000545HP:0000545Myopia0TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM024721066612655
HP:0000545HP:0000545Myopia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0000545HP:0000545Myopia0TFAP2B CL E G H702146627ORPHA0155711743601601
HP:0000545HP:0000545Myopia0TRAPPC11 CL E G H60684369847ORPHA01735125751614138
HP:0000545HP:0000545Myopia0WDR19 CL E G H577281515ORPHA04529418340608151
HP:0000545HP:0000545Myopia0WDR35 CL E G H575391515ORPHA03129229250613602
HP:0000545HP:0000545Myopia0XYLT2 CL E G H6413285194ORPHA0135715517608125
HP:0000545HP:0000545Myopia0ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM026229316615951
HP:0000545HP:0000545Myopia0ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA026229316615951
HP:0000545HP:0000545Myopia1ACSL4 CL E G H218286818ORPHA072093571300157
HP:0000545HP:0000545Myopia1AKT1 CL E G H207201ORPHA012269391164730
HP:0000545HP:0000545Myopia1AKT1 CL E G H207744Aortic valves stenosis of the childORPHA012269391164730
HP:0000545HP:0000545Myopia1AMMECR1 CL E G H994986818ORPHA05181467300195
HP:0000545HP:0000545Myopia1ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA013472121316611192
HP:0000545HP:0000545Myopia1ANTXR1 CL E G H841682067ORPHA0142421014606410
HP:0000545HP:0000545Myopia1ASXL1 CL E G H17102397297ORPHA04119918318612990
HP:0000545HP:0000545Myopia1ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0000545HP:0000545Myopia1ATRX CL E G H546847ORPHA0170663886300032
HP:0000545HP:0000545Myopia1B3GALT6 CL E G H12679293359ORPHA04023217978615291
HP:0000545HP:0000545Myopia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0000545HP:0000545Myopia1BMP4 CL E G H652139471ORPHA048891071112262
HP:0000545HP:0000545Myopia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000545HP:0000545Myopia1BTD CL E G H68679241ORPHA02483711122609019
HP:0000545HP:0000545Myopia1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM02146111550613381
HP:0000545HP:0000545Myopia1CCNQ CL E G H92002140952ORPHA01122828434300708
HP:0000545HP:0000545Myopia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0000545HP:0000545Myopia1COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000545HP:0000545Myopia1COL2A1 CL E G H128094068ORPHA05707312200120140
HP:0000545HP:0000545Myopia1COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000545HP:0000545Myopia1COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000545HP:0000545Myopia1COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000545HP:0000545Myopia1COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0000545HP:0000545Myopia1CRYBA2 CL E G H1412115900Cataract, floriform115900C1861830OMIM02232395600836
HP:0000545HP:0000545Myopia1CSPP1 CL E G H79848397715ORPHA02725726193611654
HP:0000545HP:0000545Myopia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0000545HP:0000545Myopia1ELP1 CL E G H85181764ORPHA066605959603722
HP:0000545HP:0000545Myopia1FBN1 CL E G H22002462ORPHA0272142843603134797
HP:0000545HP:0000545Myopia1GPR143 CL E G H493554ORPHA018126120145300808
HP:0000545HP:0000545Myopia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0000545HP:0000545Myopia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0000545HP:0000545Myopia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM0136321033610876
HP:0000545HP:0000545Myopia1HADHA CL E G H30305ORPHA0713024801600890
HP:0000545HP:0000545Myopia1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM064824868605837
HP:0000545HP:0000545Myopia1IFT122 CL E G H557641515ORPHA02319913556606045
HP:0000545HP:0000545Myopia1IFT43 CL E G H1127521515ORPHA076429669614068
HP:0000545HP:0000545Myopia1IFT52 CL E G H510981515ORPHA053415901617094
HP:0000545HP:0000545Myopia1IGF1 CL E G H347973272ORPHA0131675464147440
HP:0000545HP:0000545Myopia1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03116109601491
HP:0000545HP:0000545Myopia1KCNE5 CL E G H2363086818ORPHA041736241300328
HP:0000545HP:0000545Myopia1KIAA0586 CL E G H9786397715ORPHA03115519960610178
HP:0000545HP:0000545Myopia1KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM0701726388148760
HP:0000545HP:0000545Myopia1KLHL7 CL E G H5597597297ORPHA01412715646611119
HP:0000545HP:0000545Myopia1KLLN CL E G H100144748201ORPHA0823837212612105
HP:0000545HP:0000545Myopia1LIG4 CL E G H3981235ORPHA0403176601601837
HP:0000545HP:0000545Myopia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0000545HP:0000545Myopia1LOX CL E G H4015617168Aortic aneurysm, familial thoracic 10617168C4284414OMIM09676664153455
HP:0000545HP:0000545Myopia1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM0204536814605283
HP:0000545HP:0000545Myopia1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0000545HP:0000545Myopia1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM0323317114603856
HP:0000545HP:0000545Myopia1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0000545HP:0000545Myopia1MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261057392123101
HP:0000545HP:0000545Myopia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0000545HP:0000545Myopia1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM023147675602117
HP:0000545HP:0000545Myopia1NOTCH2 CL E G H4853955ORPHA0813947882600275
HP:0000545HP:0000545Myopia1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03431190610922
HP:0000545HP:0000545Myopia1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM0141817989164790
HP:0000545HP:0000545Myopia1NSUN2 CL E G H54888235ORPHA0726025994610916
HP:0000545HP:0000545Myopia1NT5C2 CL E G H22978320396ORPHA081008022600417
HP:0000545HP:0000545Myopia1PIK3CA CL E G H5290201ORPHA0573798975171834
HP:0000545HP:0000545Myopia1POLR1C CL E G H9533616494Leukodystrophy, hypomyelinating, 11616494C4225305OMIM0219220194610060
HP:0000545HP:0000545Myopia1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM0965089202607423
HP:0000545HP:0000545Myopia1PTEN CL E G H5728201ORPHA065820199588601728
HP:0000545HP:0000545Myopia1PTEN CL E G H5728744Aortic valves stenosis of the childORPHA065820199588601728
HP:0000545HP:0000545Myopia1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031130089600161
HP:0000545HP:0000545Myopia1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032233235611215
HP:0000545HP:0000545Myopia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0000545HP:0000545Myopia1SDHB CL E G H6390201ORPHA027966710681185470
HP:0000545HP:0000545Myopia1SDHC CL E G H6391201ORPHA06241510682602413
HP:0000545HP:0000545Myopia1SDHD CL E G H6392201ORPHA017436110683602690
HP:0000545HP:0000545Myopia1SEC23B CL E G H10483201ORPHA012614310702610512
HP:0000545HP:0000545Myopia1SH2B1 CL E G H25970261197ORPHA01616030417608937
HP:0000545HP:0000545Myopia1SIM1 CL E G H6492171829ORPHA05311610882603128
HP:0000545HP:0000545Myopia1SKI CL E G H64972462ORPHA02450210896164780
HP:0000545HP:0000545Myopia1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM02450210896164780
HP:0000545HP:0000545Myopia1SLC12A6 CL E G H99901496Congenital mitral stenosisORPHA02038710914604878
HP:0000545HP:0000545Myopia1SLC2A10 CL E G H810313342ORPHA03533913444606145
HP:0000545HP:0000545Myopia1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM0282132468606062
HP:0000545HP:0000545Myopia1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031333020609837
HP:0000545HP:0000545Myopia1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM031433067605436
HP:0000545HP:0000545Myopia1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM02538511164182279
HP:0000545HP:0000545Myopia1SON CL E G H6651500150ORPHA02822411183182465
HP:0000545HP:0000545Myopia1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM01724011535313650
HP:0000545HP:0000545Myopia1TBC1D24 CL E G H5746579500ORPHA05656429203613577
HP:0000545HP:0000545Myopia1TBC1D7 CL E G H51256248000Macrocephalus248000C2243051OMIM024721066612655
HP:0000545HP:0000545Myopia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0000545HP:0000545Myopia1TFAP2B CL E G H702146627ORPHA0155711743601601
HP:0000545HP:0000545Myopia1TRAPPC11 CL E G H60684369847ORPHA01735125751614138
HP:0000545HP:0000545Myopia1WDR19 CL E G H577281515ORPHA04529418340608151
HP:0000545HP:0000545Myopia1WDR35 CL E G H575391515ORPHA03129229250613602
HP:0000545HP:0000545Myopia1XYLT2 CL E G H6413285194ORPHA0135715517608125
HP:0000545HP:0000545Myopia1ZSWIM6 CL E G H57688603671Acromelic frontonasal dysostosis603671C1863616OMIM026229316615951
HP:0000545HP:0000545Myopia1ZSWIM6 CL E G H576881827DextrocardiaC0011813ORPHA026229316615951


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.