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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000545HP:0000545Myopia0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent415
HP:0000545HP:0000545Myopia0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0000545HP:0000545Myopia0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0000545HP:0000545Myopia0ACSL4 CL E G H21823571ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040283 - Occasional19
HP:0000545HP:0000545Myopia0ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndrome63
HP:0000545HP:0000545Myopia0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0000545HP:0000545Myopia0ADAMTS17 CL E G H17069117109OMIM:613195Weill-Marchesani syndrome 4.214
HP:0000545HP:0000545Myopia0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000545HP:0000545Myopia0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000545HP:0000545Myopia0ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillae84
HP:0000545HP:0000545Myopia0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040282 - Frequent530
HP:0000545HP:0000545Myopia0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000545HP:0000545Myopia0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000545HP:0000545Myopia0AGBL5 CL E G H6050926147OMIM:617023Retinitis pigmentosa 75.2
HP:0000545HP:0000545Myopia0AGK CL E G H5575021869ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040282 - Frequent82
HP:0000545HP:0000545Myopia0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0000545HP:0000545Myopia0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0000545HP:0000545Myopia0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0000545HP:0000545Myopia0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0000545HP:0000545Myopia0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000545HP:0000545Myopia0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0000545HP:0000545Myopia0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040282 - Frequent87
HP:0000545HP:0000545Myopia0AMMECR1 CL E G H9949467ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040283 - Occasional2
HP:0000545HP:0000545Myopia0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000545HP:0000545Myopia0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040283 - Occasional8
HP:0000545HP:0000545Myopia0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0000545HP:0000545Myopia0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000545HP:0000545Myopia0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0000545HP:0000545Myopia0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional88
HP:0000545HP:0000545Myopia0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional219
HP:0000545HP:0000545Myopia0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000545HP:0000545Myopia0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional25
HP:0000545HP:0000545Myopia0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0000545HP:0000545Myopia0ARR3 CL E G H407710OMIM:301010MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP261
HP:0000545HP:0000545Myopia0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000545HP:0000545Myopia0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0000545HP:0000545Myopia0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0000545HP:0000545Myopia0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000545HP:0000545Myopia0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0000545HP:0000545Myopia0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040282 - Frequent10
HP:0000545HP:0000545Myopia0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic type140
HP:0000545HP:0000545Myopia0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0000545HP:0000545Myopia0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0000545HP:0000545Myopia0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic type3
HP:0000545HP:0000545Myopia0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0000545HP:0000545Myopia0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic type2
HP:0000545HP:0000545Myopia0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0000545HP:0000545Myopia0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent43
HP:0000545HP:0000545Myopia0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0000545HP:0000545Myopia0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0000545HP:0000545Myopia0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0000545HP:0000545Myopia0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000545HP:0000545Myopia0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000545HP:0000545Myopia0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000545HP:0000545Myopia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0000545HP:0000545Myopia0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000545HP:0000545Myopia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0BFSP2 CL E G H84191041OMIM:611597Cataract, autosomal dominant, multiple types 1.27
HP:0000545HP:0000545Myopia0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000545HP:0000545Myopia0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0000545HP:0000545Myopia0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0000545HP:0000545Myopia0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000545HP:0000545Myopia0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000545HP:0000545Myopia0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000545HP:0000545Myopia0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000545HP:0000545Myopia0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1.276
HP:0000545HP:0000545Myopia0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000545HP:0000545Myopia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000545HP:0000545Myopia0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent94
HP:0000545HP:0000545Myopia0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease.58
HP:0000545HP:0000545Myopia0CACNA1F CL E G H7781393ORPHA:178333Åland Islands eye diseaseHP:0040281 - Very frequent58
HP:0000545HP:0000545Myopia0CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 358
HP:0000545HP:0000545Myopia0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent58
HP:0000545HP:0000545Myopia0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent129
HP:0000545HP:0000545Myopia0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0000545HP:0000545Myopia0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000545HP:0000545Myopia0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.HP:0003584 - Late onset85
HP:0000545HP:0000545Myopia0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0000545HP:0000545Myopia0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040282 - Frequent242
HP:0000545HP:0000545Myopia0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency242
HP:0000545HP:0000545Myopia0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0000545HP:0000545Myopia0CCNQ CL E G H9200228434ORPHA:140952Syndactyly-telecanthus-anogenital and renal malformations syndromeHP:0040283 - Occasional7
HP:0000545HP:0000545Myopia0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0000545HP:0000545Myopia0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000545HP:0000545Myopia0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21.
HP:0000545HP:0000545Myopia0CHM CL E G H11211940ORPHA:180ChoroideremiaHP:0040281 - Very frequent47
HP:0000545HP:0000545Myopia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0000545HP:0000545Myopia0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000545HP:0000545Myopia0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0000545HP:0000545Myopia0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0000545HP:0000545Myopia0CLDN19 CL E G H1494612040ORPHA:2196Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvementHP:0040281 - Very frequent42
HP:0000545HP:0000545Myopia0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement.42
HP:0000545HP:0000545Myopia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040282 - Frequent82
HP:0000545HP:0000545Myopia0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040282 - Frequent194
HP:0000545HP:0000545Myopia0CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3194
HP:0000545HP:0000545Myopia0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0000545HP:0000545Myopia0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent215
HP:0000545HP:0000545Myopia0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040281 - Very frequent215
HP:0000545HP:0000545Myopia0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000545HP:0000545Myopia0COL11A1 CL E G H13012186ORPHA:90654Stickler syndrome type 2HP:0040281 - Very frequent215
HP:0000545HP:0000545Myopia0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000545HP:0000545Myopia0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0000545HP:0000545Myopia0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0000545HP:0000545Myopia0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040281 - Very frequent177
HP:0000545HP:0000545Myopia0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000545HP:0000545Myopia0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0000545HP:0000545Myopia0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040283 - Occasional284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200OMIM:132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness.284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040282 - Frequent284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040282 - Frequent284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndromeHP:0040282 - Frequent284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1HP:0040281 - Very frequent284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0000545HP:0000545Myopia0COL2A1 CL E G H12802200OMIM:609508STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR284
HP:0000545HP:0000545Myopia0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0000545HP:0000545Myopia0COL4A3 CL E G H12852204OMIM:104200Alport syndrome, autosomal dominant.161
HP:0000545HP:0000545Myopia0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0000545HP:0000545Myopia0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0000545HP:0000545Myopia0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0000545HP:0000545Myopia0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0000545HP:0000545Myopia0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0000545HP:0000545Myopia0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I.660
HP:0000545HP:0000545Myopia0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000545HP:0000545Myopia0COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0000545HP:0000545Myopia0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000545HP:0000545Myopia0COL9A2 CL E G H12982218OMIM:614284Stickler syndrome, type V110
HP:0000545HP:0000545Myopia0COL9A3 CL E G H12992219OMIM:620022137
HP:0000545HP:0000545Myopia0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent137
HP:0000545HP:0000545Myopia0COX7B CL E G H13492291OMIM:300887Linear skin defects with multiple congenital anomalies 2HP:0040283 - Occasional6
HP:0000545HP:0000545Myopia0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0000545HP:0000545Myopia0CPSF1 CL E G H298942324OMIM:618827MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000545HP:0000545Myopia0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0000545HP:0000545Myopia0CRYAA CL E G H14092388ORPHA:1377Cataract-microcornea syndromeHP:0040282 - Frequent33
HP:0000545HP:0000545Myopia0CRYBA2 CL E G H14122395OMIM:115900Cataract 42HP:0040283 - Occasional
HP:0000545HP:0000545Myopia0CRYBA4 CL E G H14132396ORPHA:1377Cataract-microcornea syndromeHP:0040282 - Frequent10
HP:0000545HP:0000545Myopia0CRYBB1 CL E G H14142397ORPHA:1377Cataract-microcornea syndromeHP:0040282 - Frequent18
HP:0000545HP:0000545Myopia0CRYBB2 CL E G H14152398ORPHA:1377Cataract-microcornea syndromeHP:0040282 - Frequent13
HP:0000545HP:0000545Myopia0CRYGC CL E G H14202410ORPHA:1377Cataract-microcornea syndromeHP:0040282 - Frequent11
HP:0000545HP:0000545Myopia0CRYGD CL E G H14212411ORPHA:1377Cataract-microcornea syndromeHP:0040282 - Frequent29
HP:0000545HP:0000545Myopia0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0000545HP:0000545Myopia0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0000545HP:0000545Myopia0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucoma101
HP:0000545HP:0000545Myopia0CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy126
HP:0000545HP:0000545Myopia0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0000545HP:0000545Myopia0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0000545HP:0000545Myopia0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0000545HP:0000545Myopia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000545HP:0000545Myopia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0DOHH CL E G H8347528662OMIM:620066
HP:0000545HP:0000545Myopia0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0DPH5 CL E G H5161124270OMIM:620070
HP:0000545HP:0000545Myopia0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040281 - Very frequent144
HP:0000545HP:0000545Myopia0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000545HP:0000545Myopia0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0000545HP:0000545Myopia0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000545HP:0000545Myopia0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000545HP:0000545Myopia0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000545HP:0000545Myopia0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucoma54
HP:0000545HP:0000545Myopia0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 21
HP:0000545HP:0000545Myopia0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0000545HP:0000545Myopia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000545HP:0000545Myopia0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation62
HP:0000545HP:0000545Myopia0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040283 - Occasional133
HP:0000545HP:0000545Myopia0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000545HP:0000545Myopia0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040283 - Occasional5
HP:0000545HP:0000545Myopia0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040282 - Frequent151
HP:0000545HP:0000545Myopia0EPHA2 CL E G H19693386OMIM:116600Cataract, posterior polar, 1 ctpa cataract, congenital total, included.87
HP:0000545HP:0000545Myopia0ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 212
HP:0000545HP:0000545Myopia0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000545HP:0000545Myopia0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000545HP:0000545Myopia0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0000545HP:0000545Myopia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000545HP:0000545Myopia0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0000545HP:0000545Myopia0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000545HP:0000545Myopia0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000545HP:0000545Myopia0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0000545HP:0000545Myopia0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0000545HP:0000545Myopia0FBN1 CL E G H22003603OMIM:184900STIFF SKIN SYNDROME; SSKS1361
HP:0000545HP:0000545Myopia0FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndrome1361
HP:0000545HP:0000545Myopia0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000545HP:0000545Myopia0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital.655
HP:0000545HP:0000545Myopia0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000545HP:0000545Myopia0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0000545HP:0000545Myopia0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0000545HP:0000545Myopia0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2HP:0040281 - Very frequent13
HP:0000545HP:0000545Myopia0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040282 - Frequent13
HP:0000545HP:0000545Myopia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0000545HP:0000545Myopia0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0000545HP:0000545Myopia0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent157
HP:0000545HP:0000545Myopia0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000545HP:0000545Myopia0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0000545HP:0000545Myopia0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040282 - Frequent184
HP:0000545HP:0000545Myopia0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent184
HP:0000545HP:0000545Myopia0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000545HP:0000545Myopia0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0000545HP:0000545Myopia0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0000545HP:0000545Myopia0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000545HP:0000545Myopia0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0000545HP:0000545Myopia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0000545HP:0000545Myopia0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0000545HP:0000545Myopia0GJA8 CL E G H27034281ORPHA:1377Cataract-microcornea syndromeHP:0040282 - Frequent34
HP:0000545HP:0000545Myopia0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0000545HP:0000545Myopia0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000545HP:0000545Myopia0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000545HP:0000545Myopia0GLRB CL E G H27434329OMIM:614619Hyperekplexia 2.46
HP:0000545HP:0000545Myopia0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0000545HP:0000545Myopia0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0000545HP:0000545Myopia0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent34
HP:0000545HP:0000545Myopia0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent39
HP:0000545HP:0000545Myopia0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040282 - Frequent19
HP:0000545HP:0000545Myopia0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent5
HP:0000545HP:0000545Myopia0GNB3 CL E G H27844400OMIM:617024Night blindness, congenital stationary, type 1H5
HP:0000545HP:0000545Myopia0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0000545HP:0000545Myopia0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000545HP:0000545Myopia0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0000545HP:0000545Myopia0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040283 - Occasional64
HP:0000545HP:0000545Myopia0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent124
HP:0000545HP:0000545Myopia0GPR179 CL E G H44043531371OMIM:614565Night blindness, congenital stationary, type 1E.124
HP:0000545HP:0000545Myopia0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent4
HP:0000545HP:0000545Myopia0GRK1 CL E G H601110013ORPHA:75382Oguchi diseaseHP:0040283 - Occasional4
HP:0000545HP:0000545Myopia0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent63
HP:0000545HP:0000545Myopia0GRM6 CL E G H29164598OMIM:257270Night blindness, congenital stationary, type 1B.63
HP:0000545HP:0000545Myopia0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000545HP:0000545Myopia0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000545HP:0000545Myopia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000545HP:0000545Myopia0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia
HP:0000545HP:0000545Myopia0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000545HP:0000545Myopia0H4C5 CL E G H83674790OMIM:619950
HP:0000545HP:0000545Myopia0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizuresHP:0040283 - Occasional10
HP:0000545HP:0000545Myopia0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0000545HP:0000545Myopia0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional99
HP:0000545HP:0000545Myopia0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0000545HP:0000545Myopia0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000545HP:0000545Myopia0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0000545HP:0000545Myopia0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0000545HP:0000545Myopia0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000545HP:0000545Myopia0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000545HP:0000545Myopia0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000545HP:0000545Myopia0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome
HP:0000545HP:0000545Myopia0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000545HP:0000545Myopia0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000545HP:0000545Myopia0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0000545HP:0000545Myopia0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000545HP:0000545Myopia0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0000545HP:0000545Myopia0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0000545HP:0000545Myopia0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000545HP:0000545Myopia0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0000545HP:0000545Myopia0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0000545HP:0000545Myopia0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0000545HP:0000545Myopia0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000545HP:0000545Myopia0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000545HP:0000545Myopia0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0000545HP:0000545Myopia0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0000545HP:0000545Myopia0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000545HP:0000545Myopia0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000545HP:0000545Myopia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000545HP:0000545Myopia0KCNE5 CL E G H236306241ORPHA:86818Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeHP:0040283 - Occasional5
HP:0000545HP:0000545Myopia0KCNH1 CL E G H37566250OMIM:135500Zimmermann-Laband syndrome 1.13
HP:0000545HP:0000545Myopia0KCNV2 CL E G H16952219698OMIM:610356Retinal cone dystrophy 3B.73
HP:0000545HP:0000545Myopia0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000545HP:0000545Myopia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000545HP:0000545Myopia0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0000545HP:0000545Myopia0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationHP:0040283 - Occasional46
HP:0000545HP:0000545Myopia0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040282 - Frequent46
HP:0000545HP:0000545Myopia0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000545HP:0000545Myopia0KRAS CL E G H38456407OMIM:615278Cardiofaciocutaneous syndrome 2196
HP:0000545HP:0000545Myopia0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040282 - Frequent35
HP:0000545HP:0000545Myopia0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0000545HP:0000545Myopia0LAMB2 CL E G H39136487OMIM:614199Nephrotic syndrome, type 5, with or without ocular abnormalities92
HP:0000545HP:0000545Myopia0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000545HP:0000545Myopia0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0000545HP:0000545Myopia0LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent136
HP:0000545HP:0000545Myopia0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000545HP:0000545Myopia0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0000545HP:0000545Myopia0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0000545HP:0000545Myopia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0LOC111365204 CL E G H111365204OMIM:600790Chorioretinal atrophy, progressive bifocal.
HP:0000545HP:0000545Myopia0LOX CL E G H40156664OMIM:617168Aortic aneurysm, familial thoracic 10HP:0040283 - Occasional6
HP:0000545HP:0000545Myopia0LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent4
HP:0000545HP:0000545Myopia0LOXL3 CL E G H8469513869OMIM:619781MYOPIA 28, AUTOSOMAL RECESSIVE; MYP284
HP:0000545HP:0000545Myopia0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0000545HP:0000545Myopia0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent54
HP:0000545HP:0000545Myopia0LRIT3 CL E G H34519324783OMIM:615058Night blindness, congenital stationary, type 1F.54
HP:0000545HP:0000545Myopia0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0000545HP:0000545Myopia0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000545HP:0000545Myopia0LRPAP1 CL E G H40436701OMIM:615431Myopia 23, autosomal recessive4
HP:0000545HP:0000545Myopia0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000545HP:0000545Myopia0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.123
HP:0000545HP:0000545Myopia0LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndrome123
HP:0000545HP:0000545Myopia0LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3.123
HP:0000545HP:0000545Myopia0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000545HP:0000545Myopia0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0000545HP:0000545Myopia0MAF CL E G H40946776ORPHA:1377Cataract-microcornea syndromeHP:0040282 - Frequent21
HP:0000545HP:0000545Myopia0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000545HP:0000545Myopia0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000545HP:0000545Myopia0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000545HP:0000545Myopia0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0000545HP:0000545Myopia0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0000545HP:0000545Myopia0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000545HP:0000545Myopia0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1.134
HP:0000545HP:0000545Myopia0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000545HP:0000545Myopia0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4.178
HP:0000545HP:0000545Myopia0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000545HP:0000545Myopia0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000545HP:0000545Myopia0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0000545HP:0000545Myopia0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000545HP:0000545Myopia0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000545HP:0000545Myopia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000545HP:0000545Myopia0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000545HP:0000545Myopia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000545HP:0000545Myopia0MSX2 CL E G H44887392OMIM:604757Craniosynostosis 2HP:0040283 - Occasional45
HP:0000545HP:0000545Myopia0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0000545HP:0000545Myopia0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040282 - Frequent35
HP:0000545HP:0000545Myopia0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040282 - Frequent516
HP:0000545HP:0000545Myopia0MYOC CL E G H46537610OMIM:137750Glaucoma 1, open angle, A.47
HP:0000545HP:0000545Myopia0MYOC CL E G H46537610ORPHA:98977Juvenile glaucoma47
HP:0000545HP:0000545Myopia0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomalyHP:0040283 - Occasional25
HP:0000545HP:0000545Myopia0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000545HP:0000545Myopia0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0000545HP:0000545Myopia0NDUFB11 CL E G H5453920372OMIM:300952Linear skin defects with multiple congenital anomalies 3.3
HP:0000545HP:0000545Myopia0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0000545HP:0000545Myopia0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040282 - Frequent40
HP:0000545HP:0000545Myopia0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000545HP:0000545Myopia0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000545HP:0000545Myopia0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000545HP:0000545Myopia0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000545HP:0000545Myopia0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0000545HP:0000545Myopia0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000545HP:0000545Myopia0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000545HP:0000545Myopia0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000545HP:0000545Myopia0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0000545HP:0000545Myopia0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040284 - Very rare37
HP:0000545HP:0000545Myopia0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000545HP:0000545Myopia0NSD1 CL E G H6432414234ORPHA:2284155q35 microduplication syndromeHP:0040282 - Frequent544
HP:0000545HP:0000545Myopia0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000545HP:0000545Myopia0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0000545HP:0000545Myopia0NT5C2 CL E G H229788022ORPHA:320396Autosomal recessive spastic paraplegia type 45HP:0040283 - Occasional15
HP:0000545HP:0000545Myopia0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive.15
HP:0000545HP:0000545Myopia0NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent42
HP:0000545HP:0000545Myopia0NYX CL E G H605068082OMIM:310500Night blindness, congenital stationary, type 1A.42
HP:0000545HP:0000545Myopia0OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retinaHP:0040281 - Very frequent94
HP:0000545HP:0000545Myopia0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency.94
HP:0000545HP:0000545Myopia0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0000545HP:0000545Myopia0OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0000545HP:0000545Myopia0OPN1LW CL E G H59569936OMIM:303700Blue cone monochromacy.7
HP:0000545HP:0000545Myopia0OPN1MW CL E G H26524206OMIM:303700Blue cone monochromacy.5
HP:0000545HP:0000545Myopia0OPTN CL E G H1013317142OMIM:137760Glaucoma, primary open angle.62
HP:0000545HP:0000545Myopia0P3H2 CL E G H5521419317OMIM:614292Myopia, high, with cataract and vitreoretinal degeneration5
HP:0000545HP:0000545Myopia0P4HA2 CL E G H89748547OMIM:617238Myopia 25, autosomal dominant3
HP:0000545HP:0000545Myopia0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0000545HP:0000545Myopia0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome.24
HP:0000545HP:0000545Myopia0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000545HP:0000545Myopia0PAK2 CL E G H50628591OMIM:618458
HP:0000545HP:0000545Myopia0PAK2 CL E G H50628591ORPHA:1571Knobloch syndromeHP:0040281 - Very frequent
HP:0000545HP:0000545Myopia0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000545HP:0000545Myopia0PAX2 CL E G H50768616ORPHA:1475Renal coloboma syndromeHP:0040282 - Frequent39
HP:0000545HP:0000545Myopia0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent126
HP:0000545HP:0000545Myopia0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040282 - Frequent80
HP:0000545HP:0000545Myopia0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040282 - Frequent14
HP:0000545HP:0000545Myopia0PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A14
HP:0000545HP:0000545Myopia0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040282 - Frequent40
HP:0000545HP:0000545Myopia0PDZD8 CL E G H11898726974OMIM:620021
HP:0000545HP:0000545Myopia0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0000545HP:0000545Myopia0PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0000545HP:0000545Myopia0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0000545HP:0000545Myopia0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000545HP:0000545Myopia0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000545HP:0000545Myopia0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0000545HP:0000545Myopia0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0000545HP:0000545Myopia0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0000545HP:0000545Myopia0POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0000545HP:0000545Myopia0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040283 - Occasional35
HP:0000545HP:0000545Myopia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000545HP:0000545Myopia0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 11HP:0040283 - Occasional38
HP:0000545HP:0000545Myopia0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0000545HP:0000545Myopia0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0000545HP:0000545Myopia0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000545HP:0000545Myopia0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0000545HP:0000545Myopia0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent180
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3.180
HP:0000545HP:0000545Myopia0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0000545HP:0000545Myopia0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0000545HP:0000545Myopia0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0000545HP:0000545Myopia0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0000545HP:0000545Myopia0POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent213
HP:0000545HP:0000545Myopia0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000545HP:0000545Myopia0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1HP:0040283 - Occasional213
HP:0000545HP:0000545Myopia0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0000545HP:0000545Myopia0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0000545HP:0000545Myopia0POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent221
HP:0000545HP:0000545Myopia0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000545HP:0000545Myopia0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0000545HP:0000545Myopia0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0000545HP:0000545Myopia0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000545HP:0000545Myopia0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0000545HP:0000545Myopia0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndrome58
HP:0000545HP:0000545Myopia0PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2.58
HP:0000545HP:0000545Myopia0PRIMPOL CL E G H20197326575OMIM:615420Myopia 22, autosomal dominant.1
HP:0000545HP:0000545Myopia0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000545HP:0000545Myopia0PRPS1 CL E G H56319462ORPHA:411543Severe phosphoribosylpyrophosphate synthetase superactivityHP:0040284 - Very rare49
HP:0000545HP:0000545Myopia0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000545HP:0000545Myopia0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0000545HP:0000545Myopia0PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0000545HP:0000545Myopia0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0000545HP:0000545Myopia0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000545HP:0000545Myopia0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040281 - Very frequent948
HP:0000545HP:0000545Myopia0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1.291
HP:0000545HP:0000545Myopia0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000545HP:0000545Myopia0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000545HP:0000545Myopia0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000545HP:0000545Myopia0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000545HP:0000545Myopia0RAB28 CL E G H93649768OMIM:615374Cone-Rod dystrophy 186
HP:0000545HP:0000545Myopia0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000545HP:0000545Myopia0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0000545HP:0000545Myopia0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0000545HP:0000545Myopia0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000545HP:0000545Myopia0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000545HP:0000545Myopia0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent107
HP:0000545HP:0000545Myopia0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000545HP:0000545Myopia0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000545HP:0000545Myopia0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0000545HP:0000545Myopia0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040282 - Frequent37
HP:0000545HP:0000545Myopia0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000545HP:0000545Myopia0RP1 CL E G H610110263OMIM:180100Retinitis pigmentosa 1.111
HP:0000545HP:0000545Myopia0RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked.45
HP:0000545HP:0000545Myopia0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0000545HP:0000545Myopia0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040282 - Frequent200
HP:0000545HP:0000545Myopia0RPGR CL E G H610310295OMIM:304020Cone-rod dystrophy, X-linked, 1200
HP:0000545HP:0000545Myopia0RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000545HP:0000545Myopia0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000545HP:0000545Myopia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000545HP:0000545Myopia0SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent32
HP:0000545HP:0000545Myopia0SAG CL E G H629510521ORPHA:75382Oguchi diseaseHP:0040283 - Occasional32
HP:0000545HP:0000545Myopia0SCO2 CL E G H999710604OMIM:608908Myopia 6.40
HP:0000545HP:0000545Myopia0SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0000545HP:0000545Myopia0SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0000545HP:0000545Myopia0SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0000545HP:0000545Myopia0SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0000545HP:0000545Myopia0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000545HP:0000545Myopia0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000545HP:0000545Myopia0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000545HP:0000545Myopia0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000545HP:0000545Myopia0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000545HP:0000545Myopia0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0000545HP:0000545Myopia0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0000545HP:0000545Myopia0SLC12A6 CL E G H999010914ORPHA:1496Corpus callosum agenesis-neuronopathy syndromeHP:0040283 - Occasional163
HP:0000545HP:0000545Myopia0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent66
HP:0000545HP:0000545Myopia0SLC25A4 CL E G H29110990ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040282 - Frequent68
HP:0000545HP:0000545Myopia0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0000545HP:0000545Myopia0SLC39A5 CL E G H28337520502OMIM:615946Myopia 24, autosomal dominant.2
HP:0000545HP:0000545Myopia0SLITRK6 CL E G H8418923503OMIM:221200Deafness and myopia.4
HP:0000545HP:0000545Myopia0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional617
HP:0000545HP:0000545Myopia0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0000545HP:0000545Myopia0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional87
HP:0000545HP:0000545Myopia0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional47
HP:0000545HP:0000545Myopia0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000545HP:0000545Myopia0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000545HP:0000545Myopia0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000545HP:0000545Myopia0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0000545HP:0000545Myopia0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000545HP:0000545Myopia0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000545HP:0000545Myopia0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000545HP:0000545Myopia0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0000545HP:0000545Myopia0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000545HP:0000545Myopia0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000545HP:0000545Myopia0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0000545HP:0000545Myopia0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional14
HP:0000545HP:0000545Myopia0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0000545HP:0000545Myopia0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndrome.11
HP:0000545HP:0000545Myopia0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000545HP:0000545Myopia0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0000545HP:0000545Myopia0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000545HP:0000545Myopia0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000545HP:0000545Myopia0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0000545HP:0000545Myopia0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0000545HP:0000545Myopia0TBC1D7 CL E G H5125621066OMIM:248000Macrocephaly/megalencephaly syndrome, autosomal recessiveHP:0040283 - Occasional4
HP:0000545HP:0000545Myopia0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000545HP:0000545Myopia0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000545HP:0000545Myopia0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0000545HP:0000545Myopia0TEAD1 CL E G H700311714OMIM:108985Sveinsson chorioretinal atrophy.1
HP:0000545HP:0000545Myopia0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000545HP:0000545Myopia0TFAP2B CL E G H702111743ORPHA:46627Char syndromeHP:0040283 - Occasional104
HP:0000545HP:0000545Myopia0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000545HP:0000545Myopia0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type I58
HP:0000545HP:0000545Myopia0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000545HP:0000545Myopia0THOC6 CL E G H7922828369OMIM:613680Beaulieu-Boycott-Innes syndrome.1
HP:0000545HP:0000545Myopia0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome.15
HP:0000545HP:0000545Myopia0TKFC CL E G H2600724552ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeHP:0040282 - Frequent
HP:0000545HP:0000545Myopia0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0000545HP:0000545Myopia0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0000545HP:0000545Myopia0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000545HP:0000545Myopia0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000545HP:0000545Myopia0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040283 - Occasional27
HP:0000545HP:0000545Myopia0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0000545HP:0000545Myopia0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0000545HP:0000545Myopia0TRNT1 CL E G H5109517341OMIM:616959Retinitis pigmentosa and erythrocytic microcytosis28
HP:0000545HP:0000545Myopia0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040281 - Very frequent104
HP:0000545HP:0000545Myopia0TRPM1 CL E G H43087146OMIM:613216NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C104
HP:0000545HP:0000545Myopia0TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0000545HP:0000545Myopia0TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 5141
HP:0000545HP:0000545Myopia0TTLL5 CL E G H2309319963OMIM:615860Cone-Rod dystrophy 199
HP:0000545HP:0000545Myopia0TUB CL E G H727512406OMIM:616188Retinal dystrophy and obesity.1
HP:0000545HP:0000545Myopia0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0000545HP:0000545Myopia0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040282 - Frequent7
HP:0000545HP:0000545Myopia0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0000545HP:0000545Myopia0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0000545HP:0000545Myopia0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome.13
HP:0000545HP:0000545Myopia0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000545HP:0000545Myopia0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0000545HP:0000545Myopia0USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000545HP:0000545Myopia0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2HP:0040282 - Frequent777
HP:0000545HP:0000545Myopia0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000545HP:0000545Myopia0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000545HP:0000545Myopia0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000545HP:0000545Myopia0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0000545HP:0000545Myopia0VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy.180
HP:0000545HP:0000545Myopia0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0000545HP:0000545Myopia0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0000545HP:0000545Myopia0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000545HP:0000545Myopia0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000545HP:0000545Myopia0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0000545HP:0000545Myopia0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0000545HP:0000545Myopia0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0000545HP:0000545Myopia0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0000545HP:0000545Myopia0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000545HP:0000545Myopia0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0000545HP:0000545Myopia0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2HP:0040282 - Frequent155
HP:0000545HP:0000545Myopia0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040283 - Occasional14
HP:0000545HP:0000545Myopia0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040283 - Occasional5
HP:0000545HP:0000545Myopia0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0000545HP:0000545Myopia0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0000545HP:0000545Myopia0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0000545HP:0000545Myopia0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000545HP:0000545Myopia0ZNF408 CL E G H7979720041OMIM:616468Exudative vitreoretinopathy 6.14
HP:0000545HP:0000545Myopia0ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0000545HP:0000545Myopia0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0000545HP:0000545Myopia0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndrome397
HP:0000545HP:0000545Myopia0ZNF644 CL E G H8414629222OMIM:614167Myopia 21, autosomal dominant5
HP:0000545HP:0000545Myopia0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosisHP:0040283 - Occasional5
HP:0000545HP:0000545Myopia0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040283 - Occasional5
HP:0000545HP:0500066Latent myopia1 CL E G H
HP:0000545HP:0031730Axial myopia1 CL E G H
HP:0000545HP:0011003High myopia1ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent63
HP:0000545HP:0011003High myopia1ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0000545HP:0011003High myopia1ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillaeHP:0040283 - Occasional84
HP:0000545HP:0025573Mild myopia1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0000545HP:0011003High myopia1ARR3 CL E G H407710OMIM:301010MYOPIA 26, X-LINKED, FEMALE-LIMITED; MYP261
HP:0000545HP:0011003High myopia1ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000545HP:0011003High myopia1ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040283 - Occasional145
HP:0000545HP:0011003High myopia1ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0000545HP:0011003High myopia1ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000545HP:0011003High myopia1ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0000545HP:0011003High myopia1ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0000545HP:0011003High myopia1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0000545HP:0011003High myopia1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000545HP:0011003High myopia1CNGB3 CL E G H547142153OMIM:262300Achromatopsia 3.194
HP:0000545HP:0011003High myopia1COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0000545HP:0025573Mild myopia1COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040284 - Very rare222
HP:0000545HP:0011003High myopia1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0000545HP:0011003High myopia1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040281 - Very frequent284
HP:0000545HP:0011003High myopia1COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0000545HP:0011003High myopia1COL9A2 CL E G H12982218OMIM:614284Stickler syndrome, type V.110
HP:0000545HP:0031624Moderate myopia1COL9A3 CL E G H12992219OMIM:620022137
HP:0000545HP:0011003High myopia1COL9A3 CL E G H12992219OMIM:620022137
HP:0000545HP:0011003High myopia1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0000545HP:0011003High myopia1CPSF1 CL E G H298942324OMIM:618827MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0000545HP:0011003High myopia1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0000545HP:0011003High myopia1CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040283 - Occasional101
HP:0000545HP:0011003High myopia1CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophyHP:0040283 - Occasional126
HP:0000545HP:0011003High myopia1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040283 - Occasional108
HP:0000545HP:0011003High myopia1DOHH CL E G H8347528662OMIM:620066
HP:0000545HP:0011003High myopia1DPH5 CL E G H5161124270OMIM:620070
HP:0000545HP:0011003High myopia1EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040283 - Occasional54
HP:0000545HP:0011003High myopia1EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0000545HP:0011003High myopia1ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardationHP:0040283 - Occasional62
HP:0000545HP:0011003High myopia1ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 2.12
HP:0000545HP:0011003High myopia1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000545HP:0011003High myopia1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0000545HP:0011003High myopia1FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent1361
HP:0000545HP:0011003High myopia1FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000545HP:0011003High myopia1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricansHP:0040283 - Occasional145
HP:0000545HP:0031624Moderate myopia1FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0000545HP:0011003High myopia1GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000545HP:0025573Mild myopia1GNB3 CL E G H27844400OMIM:617024Night blindness, congenital stationary, type 1H.5
HP:0000545HP:0011003High myopia1GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia.
HP:0000545HP:0031624Moderate myopia1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000545HP:0025573Mild myopia1H4C5 CL E G H83674790OMIM:619950
HP:0000545HP:0031624Moderate myopia1H4C5 CL E G H83674790OMIM:619950
HP:0000545HP:0011003High myopia1HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0000545HP:0011003High myopia1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000545HP:0011003High myopia1HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0000545HP:0011003High myopia1IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000545HP:0011003High myopia1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000545HP:0011003High myopia1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000545HP:0011003High myopia1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000545HP:0011003High myopia1LOXL3 CL E G H8469513869OMIM:619781MYOPIA 28, AUTOSOMAL RECESSIVE; MYP284
HP:0000545HP:0011003High myopia1LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000545HP:0011003High myopia1LRPAP1 CL E G H40436701OMIM:615431Myopia 23, autosomal recessive4
HP:0000545HP:0011003High myopia1LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndromeHP:0040281 - Very frequent123
HP:0000545HP:0011003High myopia1MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0000545HP:0011003High myopia1MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040283 - Occasional47
HP:0000545HP:0011003High myopia1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0000545HP:0011003High myopia1NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0000545HP:0011003High myopia1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000545HP:0011003High myopia1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000545HP:0011003High myopia1NYX CL E G H605068082OMIM:310500Night blindness, congenital stationary, type 1A.42
HP:0000545HP:0025573Mild myopia1OFD1 CL E G H84812567OMIM:300424Retinitis pigmentosa 23201
HP:0000545HP:0011003High myopia1P3H2 CL E G H5521419317OMIM:614292Myopia, high, with cataract and vitreoretinal degeneration.5
HP:0000545HP:0011003High myopia1P4HA2 CL E G H89748547OMIM:617238Myopia 25, autosomal dominant.3
HP:0000545HP:0011003High myopia1PAK2 CL E G H50628591OMIM:618458
HP:0000545HP:0011003High myopia1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0000545HP:0011003High myopia1PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A14
HP:0000545HP:0011003High myopia1POC1B CL E G H28280930836OMIM:615973Cone-Rod dystrophy 203
HP:0000545HP:0025573Mild myopia1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000545HP:0011003High myopia1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0000545HP:0011003High myopia1POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3180
HP:0000545HP:0011003High myopia1PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040281 - Very frequent58
HP:0000545HP:0011003High myopia1RAB28 CL E G H93649768OMIM:615374Cone-Rod dystrophy 18.6
HP:0000545HP:0011003High myopia1RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000545HP:0011003High myopia1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040283 - Occasional43
HP:0000545HP:0011003High myopia1RP2 CL E G H610210274OMIM:312600Retinitis pigmentosa 2, X-linked45
HP:0000545HP:0011003High myopia1RPGR CL E G H610310295OMIM:300029Retinitis pigmentosa 3200
HP:0000545HP:0011003High myopia1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000545HP:0011003High myopia1SCO2 CL E G H999710604OMIM:608908Myopia 640
HP:0000545HP:0011003High myopia1SLC39A5 CL E G H28337520502OMIM:615946Myopia 24, autosomal dominant2
HP:0000545HP:0011003High myopia1SLITRK6 CL E G H8418923503OMIM:221200Deafness and myopia.4
HP:0000545HP:0011003High myopia1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000545HP:0011003High myopia1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040284 - Very rare19
HP:0000545HP:0011003High myopia1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome.271
HP:0000545HP:0011003High myopia1TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040283 - Occasional58
HP:0000545HP:0011003High myopia1TTC8 CL E G H12301620087OMIM:613464Retinitis pigmentosa 51.41
HP:0000545HP:0011003High myopia1TTLL5 CL E G H2309319963OMIM:615860Cone-Rod dystrophy 199
HP:0000545HP:0011003High myopia1VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000545HP:0011003High myopia1ZNF408 CL E G H7979720041OMIM:616469Retinitis pigmentosa 7214
HP:0000545HP:0011003High myopia1ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040281 - Very frequent397
HP:0000545HP:0011003High myopia1ZNF644 CL E G H8414629222OMIM:614167Myopia 21, autosomal dominant.5


Genes (416) :ABCC6 ACOX1 ACSL4 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTSL1 ADAMTSL4 ADGRV1 AEBP1 AFF4 AGBL5 AGK AHDC1 AKT1 ALDH18A1 ALDH3A2 AMMECR1 ANKRD11 ANTXR1 AP1B1 AP3D1 APC2 ARCN1 ARID1A ARID1B ARID2 ARL6 ARR3 ASPH ASXL1 ATAD3A ATF6 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX B3GALNT2 B3GALT6 B3GLCT B4GALT1 BAP1 BAZ1B BBS1 BCL11B BCL7B BFSP2 BICRA BLOC1S3 BMP4 BPTF BRAF BRD4 BUD23 C12ORF57 CABP4 CACNA1F CACNA2D4 CAMK2G CAMTA1 CANT1 CARS1 CASK CBS CCDC28B CCNQ CDC45 CDK8 CFAP418 CHM CHMP1A CHST14 CLDN16 CLDN19 CLIP2 CNGA3 CNGB3 COL11A1 COL11A2 COL12A1 COL18A1 COL1A2 COL25A1 COL2A1 COL4A1 COL4A3 COL4A4 COL4A5 COL4A6 COL5A1 COL9A1 COL9A2 COL9A3 COX7B CPSF1 CRIPT CRYAA CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTNNB1 CYP1B1 CYP4V2 DAG1 DEAF1 DNAJC21 DNAJC30 DOHH DPF2 DPH5 DPYD DSE DYRK1A EED EFEMP1 EFL1 EIF2S3 EIF4H ELN ELOVL4 ELP1 EMC1 ENPP1 EPHA2 ERBB3 ERCC2 ERCC3 EXOSC2 EXOSC5 FANCI FBN1 FBN2 FBXW11 FGFR2 FGFR3 FKBP14 FKBP6 FKRP FKTN FLII FLNA FN1 GJA1 GJA8 GJC2 GLE1 GLRA2 GLRB GMPPB GNAT1 GNAT2 GNB3 GNPTG GPAA1 GPR143 GPR179 GRK1 GRM6 GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GZF1 H4C3 H4C5 HACE1 HADHA HCCS HDAC8 HERC1 HERC2 HNRNPK HS6ST2 HSPG2 HTT HUWE1 IFIH1 IFT122 IFT43 IFT52 IGF1 IPO8 IPW IQSEC2 IRX5 JAG1 KAT5 KAT6A KCNE5 KCNH1 KCNV2 KDM5B KDM5C KIAA0586 KIF11 KLLN KRAS LAMA1 LAMB2 LARGE1 LCA5 LIG4 LIMK1 LOC111365204 LOX LOXL3 LRAT LRIT3 LRP2 LRPAP1 LRRC32 LTBP2 MADD MAF MAGEL2 MAN2B1 MAP2K1 MAP2K2 MBD5 MBTPS2 MC1R MED12L MED13L METTL27 MKRN3 MKRN3-AS1 MLXIPL MPLKIP MSX2 MYO1H MYO5A MYO7A MYOC NBAS NCF1 NDP NDUFB11 NFIX NIPBL NMNAT1 NONO NOTCH2 NPAP1 NPR3 NR2F1 NRAS NSD1 NSUN2 NT5C2 NYX OAT OCA2 OFD1 OPN1LW OPN1MW OPTN P3H2 P4HA2 P4HTM PACS1 PACS2 PAK2 PAX2 PDE6B PDE6C PDE6H PDZD7 PDZD8 PIGT PIK3CA PIK3R1 PLOD1 PLOD3 PMM2 POC1B POGZ POLR1C POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 PPP1R21 PPP2R5D PRDM5 PRIMPOL PRPS1 PRR12 PSMD12 PTEN PTPN11 PUF60 PURA PWAR1 PWRN1 RAB28 RAD21 RAI1 RBM10 RECQL4 RERE RFC2 RHO RHOA RIN2 RMRP RNF113A RP1 RP2 RPE65 RPGR RPL10 SAG SCO2 SDHB SDHC SDHD SEC23B SETBP1 SETD2 SETD5 SHOC2 SKI SLC12A6 SLC24A1 SLC25A4 SLC2A10 SLC39A5 SLITRK6 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMS SNORD115-1 SNORD116-1 SNRPN SON SOX10 SOX11 SOX4 SOX5 SOX9 SPATA7 SRCAP STX1A TAF1 TARS1 TBC1D24 TBC1D7 TBL2 TCF20 TCF4 TEAD1 TFAP2A TFAP2B TFE3 TGFBI THG1L THOC6 TIMM8A TKFC TLK2 TMEM270 TMEM63A TMEM94 TNPO2 TRAPPC11 TRIT1 TRNT1 TRPM1 TSPAN7 TTC8 TTLL5 TUB TULP1 TWIST2 TYR UBE3A UBE3B UCHL1 USF3 USH2A USP7 USP9X VARS1 VCAN VPS13B VPS37D VPS50 WAC WDR19 WDR26 WDR35 WHRN XYLT1 XYLT2 YME1L1 ZEB2 ZFHX4 ZNF408 ZNF469 ZNF644 ZSWIM6

Diseases (408) :ORPHA:758 OMIM:177850 ORPHA:2971 ORPHA:86818 ORPHA:3449 OMIM:277600 OMIM:613195 OMIM:225410 ORPHA:521445 OMIM:225200 ORPHA:231178 ORPHA:536532 ORPHA:444077 OMIM:617023 ORPHA:1369 OMIM:212350 ORPHA:412069 ORPHA:201 OMIM:615109 ORPHA:744 OMIM:219150 ORPHA:816 ORPHA:261250 ORPHA:2067 OMIM:242150 ORPHA:54 ORPHA:821 OMIM:617164 ORPHA:1465 OMIM:135900 OMIM:209900 OMIM:301010 OMIM:601552 ORPHA:97297 OMIM:605039 OMIM:617183 ORPHA:496790 ORPHA:49382 ORPHA:357074 OMIM:219200 ORPHA:2834 ORPHA:79500 ORPHA:847 ORPHA:588 OMIM:615181 ORPHA:536467 OMIM:271640 OMIM:261540 ORPHA:79332 OMIM:619762 ORPHA:904 OMIM:618092 OMIM:611597 OMIM:619325 OMIM:614077 ORPHA:139471 OMIM:607932 ORPHA:529962 ORPHA:1340 OMIM:115150 OMIM:163950 ORPHA:199 OMIM:218340 ORPHA:215 OMIM:300600 ORPHA:178333 OMIM:300476 OMIM:618522 OMIM:614756 OMIM:251450 ORPHA:33364 ORPHA:163937 ORPHA:394 OMIM:236200 ORPHA:140952 OMIM:617063 OMIM:618748 OMIM:617406 ORPHA:180 OMIM:614961 OMIM:601776 ORPHA:2953 OMIM:248250 ORPHA:2196 OMIM:248190 OMIM:262300 ORPHA:440354 ORPHA:250984 ORPHA:560 OMIM:154780 ORPHA:90654 OMIM:604841 ORPHA:1427 ORPHA:536516 ORPHA:1571 OMIM:267750 ORPHA:230851 ORPHA:91411 ORPHA:93296 OMIM:132450 OMIM:156550 ORPHA:485 ORPHA:166011 ORPHA:93346 OMIM:184250 ORPHA:94068 OMIM:183900 ORPHA:93315 ORPHA:93316 ORPHA:1856 ORPHA:90653 OMIM:108300 OMIM:609508 OMIM:175780 OMIM:104200 OMIM:203780 OMIM:301050 ORPHA:1018 OMIM:130000 OMIM:614134 OMIM:614284 OMIM:620022 OMIM:300887 OMIM:309801 OMIM:618827 OMIM:615789 ORPHA:1377 OMIM:115900 ORPHA:397715 ORPHA:404473 ORPHA:98977 OMIM:210370 ORPHA:370997 OMIM:616538 ORPHA:819 OMIM:617052 OMIM:620066 OMIM:620070 ORPHA:293948 ORPHA:1675 ORPHA:268261 ORPHA:464311 OMIM:617561 OMIM:617941 OMIM:300148 OMIM:614457 ORPHA:1764 OMIM:616875 ORPHA:480898 OMIM:116600 OMIM:607598 OMIM:617763 OMIM:619576 OMIM:609053 OMIM:616914 OMIM:154700 ORPHA:284979 ORPHA:2462 OMIM:184900 OMIM:608328 OMIM:121050 OMIM:618914 OMIM:101200 OMIM:616482 OMIM:614557 ORPHA:300179 ORPHA:370959 ORPHA:370968 OMIM:236670 OMIM:613153 ORPHA:272 OMIM:253800 ORPHA:555877 ORPHA:2710 OMIM:257850 OMIM:608804 OMIM:611890 OMIM:301076 OMIM:614619 OMIM:617024 OMIM:252605 OMIM:617810 ORPHA:529665 OMIM:614565 ORPHA:75382 OMIM:257270 OMIM:617988 OMIM:617662 OMIM:619758 OMIM:619950 OMIM:616756 ORPHA:464282 ORPHA:5 OMIM:300882 ORPHA:457359 OMIM:176270 ORPHA:352665 ORPHA:453504 OMIM:301025 ORPHA:800 OMIM:255800 OMIM:617435 OMIM:309590 OMIM:182250 ORPHA:1515 OMIM:218330 ORPHA:73272 OMIM:619472 OMIM:611174 OMIM:118450 OMIM:619103 OMIM:616268 OMIM:135500 OMIM:610356 OMIM:618109 OMIM:300534 OMIM:152950 ORPHA:2526 OMIM:615278 ORPHA:370022 OMIM:615960 OMIM:614199 OMIM:609049 ORPHA:364055 ORPHA:235 OMIM:600790 OMIM:617168 OMIM:619781 OMIM:615058 ORPHA:2143 OMIM:222448 OMIM:615431 OMIM:619074 OMIM:251750 OMIM:614819 OMIM:619004 OMIM:610202 ORPHA:398069 OMIM:615547 ORPHA:309288 ORPHA:309282 OMIM:615280 OMIM:156200 ORPHA:2273 OMIM:203200 OMIM:618872 ORPHA:369891 OMIM:604757 OMIM:619482 ORPHA:33445 OMIM:137750 OMIM:614800 OMIM:305390 OMIM:300952 ORPHA:447980 OMIM:602535 OMIM:122470 OMIM:619260 ORPHA:466791 OMIM:300967 ORPHA:955 OMIM:619543 ORPHA:401777 OMIM:613224 ORPHA:228415 ORPHA:320396 OMIM:613162 OMIM:310500 ORPHA:414 OMIM:258870 OMIM:300424 OMIM:303700 OMIM:137760 OMIM:614292 OMIM:617238 OMIM:618493 OMIM:615009 OMIM:618067 OMIM:618458 OMIM:120330 ORPHA:1475 OMIM:610024 OMIM:620021 ORPHA:369837 OMIM:615108 OMIM:269880 OMIM:225400 ORPHA:1900 OMIM:612394 ORPHA:79318 OMIM:615973 ORPHA:468678 OMIM:616364 OMIM:616494 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:614381 OMIM:253280 OMIM:613151 OMIM:613157 OMIM:613155 OMIM:613150 OMIM:613156 OMIM:619383 OMIM:616355 ORPHA:90354 OMIM:614170 OMIM:615420 OMIM:300661 ORPHA:411543 OMIM:619539 OMIM:158350 ORPHA:2969 ORPHA:508498 ORPHA:438216 OMIM:615374 ORPHA:2886 OMIM:218600 ORPHA:494344 OMIM:618727 OMIM:613075 ORPHA:217335 ORPHA:175 OMIM:180100 OMIM:312600 OMIM:304020 OMIM:300029 OMIM:300998 ORPHA:459070 OMIM:608908 OMIM:616078 ORPHA:404440 OMIM:615761 OMIM:607721 OMIM:182212 ORPHA:1496 ORPHA:3342 OMIM:615946 OMIM:221200 OMIM:242900 OMIM:610759 OMIM:309583 ORPHA:3063 OMIM:105830 ORPHA:177907 ORPHA:500150 OMIM:609136 ORPHA:313892 OMIM:616803 OMIM:114290 OMIM:619595 OMIM:300966 OMIM:220500 OMIM:248000 OMIM:618430 OMIM:610954 ORPHA:2896 OMIM:108985 OMIM:113620 ORPHA:46627 OMIM:301066 ORPHA:98964 OMIM:618800 OMIM:613680 OMIM:304700 OMIM:618050 OMIM:618688 OMIM:618316 OMIM:619556 ORPHA:369847 OMIM:615356 OMIM:617873 OMIM:616959 OMIM:613216 OMIM:300210 OMIM:613464 OMIM:615860 OMIM:616188 OMIM:613843 ORPHA:920 OMIM:203100 OMIM:244450 ORPHA:2707 OMIM:615491 ORPHA:500055 OMIM:300968 ORPHA:480880 OMIM:617802 OMIM:143200 OMIM:216550 ORPHA:193 OMIM:619685 OMIM:616708 ORPHA:284169 OMIM:614376 ORPHA:513456 ORPHA:370930 ORPHA:85194 OMIM:617302 ORPHA:261552 ORPHA:261537 OMIM:616468 OMIM:616469 OMIM:229200 OMIM:614167 OMIM:603671 ORPHA:1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.