Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormality of globe size (HP:0100887)help
Parent Node:
expand
Aplasia/Hypoplasia affecting the eye (HP:0008056)help
..Starting node
..expand
Microphthalmia (HP:0000568)help
Term ID: 568
Name: Microphthalmia
Synonym: Abnormally small eyeball; Abnormally small globe of eye; Decreased size of eyeball; Decreased size of globe of eye; Microphthalmos; Nanophthalmos
Definition: A developmental anomaly characterized by abnormal smallness of one or both eyes.
Comments:
Reference: HP:0000568
Genes and Diseases:
 
       Child Nodes:
........expandBilateral microphthalmos (HP:0007633) help
........expandUnilateral microphthalmos (HP:0011480) help

 Sister Nodes: 
..expandAnophthalmia (HP:0000528) help
..expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
..expandAplasia/Hypoplasia affecting the fundus (HP:0008057) help
..expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000568HP:0000568Microphthalmia0ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM125133409600463
HP:0000568HP:0000568Microphthalmia0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM16697179603178
HP:0000568HP:0000568Microphthalmia0ALX1 CL E G H8092306542ORPHA15291494601527
HP:0000568HP:0000568Microphthalmia0ALX1 CL E G H8092613456Frontonasal dysplasia 3613456C3150706OMIM15291494601527
HP:0000568HP:0000568Microphthalmia0ALX3 CL E G H257391474ORPHA1835449606014
HP:0000568HP:0000568Microphthalmia0ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000568HP:0000568Microphthalmia0ALX4 CL E G H60529228390ORPHA127173450605420
HP:0000568HP:0000568Microphthalmia0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1719829216610911
HP:0000568HP:0000568Microphthalmia0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1719829216610911
HP:0000568HP:0000568Microphthalmia0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM192213907609875
HP:0000568HP:0000568Microphthalmia0B3GALNT2 CL E G H148789899ORPHA11618128596610194
HP:0000568HP:0000568Microphthalmia0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11618128596610194
HP:0000568HP:0000568Microphthalmia0B4GAT1 CL E G H11041899ORPHA177615685605517
HP:0000568HP:0000568Microphthalmia0B9D1 CL E G H27077564ORPHA11014624123614144
HP:0000568HP:0000568Microphthalmia0B9D2 CL E G H80776564ORPHA145928636611951
HP:0000568HP:0000568Microphthalmia0BCOR CL E G H54880568Aggressive fibromatosisORPHA15538420893300485
HP:0000568HP:0000568Microphthalmia0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA15538420893300485
HP:0000568HP:0000568Microphthalmia0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15538420893300485
HP:0000568HP:0000568Microphthalmia0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15538420893300485
HP:0000568HP:0000568Microphthalmia0BMP4 CL E G H652139471ORPHA148761071112262
HP:0000568HP:0000568Microphthalmia0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM148761071112262
HP:0000568HP:0000568Microphthalmia0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1282481421100113705
HP:0000568HP:0000568Microphthalmia0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120831148602452
HP:0000568HP:0000568Microphthalmia0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1292461149602860
HP:0000568HP:0000568Microphthalmia0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0000568HP:0000568Microphthalmia0CC2D2A CL E G H57545564ORPHA19648029253612013
HP:0000568HP:0000568Microphthalmia0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181341857600236
HP:0000568HP:0000568Microphthalmia0CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM197626690613446
HP:0000568HP:0000568Microphthalmia0CEP290 CL E G H80184564ORPHA131064529021610142
HP:0000568HP:0000568Microphthalmia0CEP55 CL E G H55165564ORPHA12311161610000
HP:0000568HP:0000568Microphthalmia0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA159630794607951
HP:0000568HP:0000568Microphthalmia0CHD7 CL E G H55636138ORPHA1884102520626608892
HP:0000568HP:0000568Microphthalmia0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884102520626608892
HP:0000568HP:0000568Microphthalmia0COL4A1 CL E G H1282899ORPHA11144282202120130
HP:0000568HP:0000568Microphthalmia0COX7B CL E G H13492556ORPHA151622291300885
HP:0000568HP:0000568Microphthalmia0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151622291300885
HP:0000568HP:0000568Microphthalmia0CSPP1 CL E G H79848564ORPHA12717326193611654
HP:0000568HP:0000568Microphthalmia0CTDP1 CL E G H915048431ORPHA112432498604927
HP:0000568HP:0000568Microphthalmia0DAG1 CL E G H1605899ORPHA1112622666128239
HP:0000568HP:0000568Microphthalmia0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1112622666128239
HP:0000568HP:0000568Microphthalmia0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119472910605185
HP:0000568HP:0000568Microphthalmia0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12220119189614194
HP:0000568HP:0000568Microphthalmia0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121722993611428
HP:0000568HP:0000568Microphthalmia0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242473012612779
HP:0000568HP:0000568Microphthalmia0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912323133300205
HP:0000568HP:0000568Microphthalmia0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA194828526614789
HP:0000568HP:0000568Microphthalmia0ERCC1 CL E G H20671466ORPHA18573433126380
HP:0000568HP:0000568Microphthalmia0ERCC2 CL E G H20681466ORPHA11081863434126340
HP:0000568HP:0000568Microphthalmia0ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM11081863434126340
HP:0000568HP:0000568Microphthalmia0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11081863434126340
HP:0000568HP:0000568Microphthalmia0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201003435133510
HP:0000568HP:0000568Microphthalmia0ERCC5 CL E G H20731466ORPHA1592273437133530
HP:0000568HP:0000568Microphthalmia0ERCC6 CL E G H20741466ORPHA11404183438609413
HP:0000568HP:0000568Microphthalmia0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404183438609413
HP:0000568HP:0000568Microphthalmia0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404183438609413
HP:0000568HP:0000568Microphthalmia0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13119027230609353
HP:0000568HP:0000568Microphthalmia0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM193824725615292
HP:0000568HP:0000568Microphthalmia0FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM193824725615292
HP:0000568HP:0000568Microphthalmia0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM168910043582607139
HP:0000568HP:0000568Microphthalmia0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1657643584613899
HP:0000568HP:0000568Microphthalmia0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1642993585613984
HP:0000568HP:0000568Microphthalmia0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1171433586613976
HP:0000568HP:0000568Microphthalmia0FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM14539325568611360
HP:0000568HP:0000568Microphthalmia0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653063688136350
HP:0000568HP:0000568Microphthalmia0FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA12653063688136350
HP:0000568HP:0000568Microphthalmia0FKRP CL E G H79147899ORPHA114134917997606596
HP:0000568HP:0000568Microphthalmia0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114134917997606596
HP:0000568HP:0000568Microphthalmia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114134917997606596
HP:0000568HP:0000568Microphthalmia0FKTN CL E G H2218899ORPHA1593703622607440
HP:0000568HP:0000568Microphthalmia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1593703622607440
HP:0000568HP:0000568Microphthalmia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1593703622607440
HP:0000568HP:0000568Microphthalmia0FOXE3 CL E G H230183461ORPHA131583808601094
HP:0000568HP:0000568Microphthalmia0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131583808601094
HP:0000568HP:0000568Microphthalmia0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241651092605597
HP:0000568HP:0000568Microphthalmia0FRAS1 CL E G H801442052ORPHA16151319185607830
HP:0000568HP:0000568Microphthalmia0FREM1 CL E G H158326248450Marles Greenberg Persaud syndrome248450C1855425OMIM13536023399608944
HP:0000568HP:0000568Microphthalmia0FREM2 CL E G H3416402052ORPHA12539225396608945
HP:0000568HP:0000568Microphthalmia0GDF3 CL E G H9573613704Microphthalmia, isolated 7613704C3150969OMIM16624218606522
HP:0000568HP:0000568Microphthalmia0GDF6 CL E G H392255613094Microphthalmia, isolated 4613094C2751307OMIM1211074221601147
HP:0000568HP:0000568Microphthalmia0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091074274121014
HP:0000568HP:0000568Microphthalmia0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091074274121014
HP:0000568HP:0000568Microphthalmia0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883184318165230
HP:0000568HP:0000568Microphthalmia0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12444464319165240
HP:0000568HP:0000568Microphthalmia0GRIP1 CL E G H234262052ORPHA11812618708604597
HP:0000568HP:0000568Microphthalmia0HCCS CL E G H30522556ORPHA1141984837300056
HP:0000568HP:0000568Microphthalmia0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1141984837300056
HP:0000568HP:0000568Microphthalmia0HDAC6 CL E G H10013163966ORPHA1319214064300272
HP:0000568HP:0000568Microphthalmia0HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM1319214064300272
HP:0000568HP:0000568Microphthalmia0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111825004300193
HP:0000568HP:0000568Microphthalmia0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM14655017142992
HP:0000568HP:0000568Microphthalmia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1342415173190020
HP:0000568HP:0000568Microphthalmia0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512825961300248
HP:0000568HP:0000568Microphthalmia0INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM1123129239610621
HP:0000568HP:0000568Microphthalmia0ISPD CL E G H729920899ORPHA137137276614631
HP:0000568HP:0000568Microphthalmia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM137137276614631
HP:0000568HP:0000568Microphthalmia0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701146388148760
HP:0000568HP:0000568Microphthalmia0KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM1167419181611279
HP:0000568HP:0000568Microphthalmia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1452656407190070
HP:0000568HP:0000568Microphthalmia0LARGE1 CL E G H9215899ORPHA1283466511603590
HP:0000568HP:0000568Microphthalmia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1283466511603590
HP:0000568HP:0000568Microphthalmia0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12212746697603506
HP:0000568HP:0000568Microphthalmia0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19386758604357
HP:0000568HP:0000568Microphthalmia0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14586891605789
HP:0000568HP:0000568Microphthalmia0MBTPS2 CL E G H5136085284ORPHA12620415455300294
HP:0000568HP:0000568Microphthalmia0MFRP CL E G H8355235612ORPHA13117118121606227
HP:0000568HP:0000568Microphthalmia0MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13117118121606227
HP:0000568HP:0000568Microphthalmia0MFRP CL E G H83552609549Nanophthalmos 2609549C1836006OMIM13117118121606227
HP:0000568HP:0000568Microphthalmia0MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM1611857105156845
HP:0000568HP:0000568Microphthalmia0MKS1 CL E G H54903564ORPHA1522737121609883
HP:0000568HP:0000568Microphthalmia0MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1522737121609883
HP:0000568HP:0000568Microphthalmia0NAA10 CL E G H8260568Aggressive fibromatosisORPHA11028118704300013
HP:0000568HP:0000568Microphthalmia0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11028118704300013
HP:0000568HP:0000568Microphthalmia0NDP CL E G H4693649ORPHA11672037678300658
HP:0000568HP:0000568Microphthalmia0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672037678300658
HP:0000568HP:0000568Microphthalmia0NDUFB11 CL E G H545392556ORPHA1616120372300403
HP:0000568HP:0000568Microphthalmia0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616120372300403
HP:0000568HP:0000568Microphthalmia0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523367820300457
HP:0000568HP:0000568Microphthalmia0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112413307881190198
HP:0000568HP:0000568Microphthalmia0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1141417989164790
HP:0000568HP:0000568Microphthalmia0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643218108300535
HP:0000568HP:0000568Microphthalmia0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174418028610107
HP:0000568HP:0000568Microphthalmia0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178738522600037
HP:0000568HP:0000568Microphthalmia0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM198858616167409
HP:0000568HP:0000568Microphthalmia0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714358620607108
HP:0000568HP:0000568Microphthalmia0PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11378788602676
HP:0000568HP:0000568Microphthalmia0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231228923606879
HP:0000568HP:0000568Microphthalmia0PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13231526270613629
HP:0000568HP:0000568Microphthalmia0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573388975171834
HP:0000568HP:0000568Microphthalmia0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM115299006602669
HP:0000568HP:0000568Microphthalmia0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM165311397605031
HP:0000568HP:0000568Microphthalmia0POMGNT1 CL E G H55624899ORPHA18940019139606822
HP:0000568HP:0000568Microphthalmia0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18940019139606822
HP:0000568HP:0000568Microphthalmia0POMGNT2 CL E G H84892899ORPHA1915125902614828
HP:0000568HP:0000568Microphthalmia0POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM1915125902614828
HP:0000568HP:0000568Microphthalmia0POMK CL E G H84197899ORPHA1812426267615247
HP:0000568HP:0000568Microphthalmia0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1812426267615247
HP:0000568HP:0000568Microphthalmia0POMT1 CL E G H10585899ORPHA1964449202607423
HP:0000568HP:0000568Microphthalmia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1964449202607423
HP:0000568HP:0000568Microphthalmia0POMT2 CL E G H29954899ORPHA17542519743607439
HP:0000568HP:0000568Microphthalmia0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17542519743607439
HP:0000568HP:0000568Microphthalmia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17542519743607439
HP:0000568HP:0000568Microphthalmia0PORCN CL E G H648402092EhrlichiosisORPHA112120417652300651
HP:0000568HP:0000568Microphthalmia0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112120417652300651
HP:0000568HP:0000568Microphthalmia0PRSS56 CL E G H64696035612ORPHA1245339433613858
HP:0000568HP:0000568Microphthalmia0PRSS56 CL E G H646960613517Microphthalmia, isolated 6613517C3150757OMIM1245339433613858
HP:0000568HP:0000568Microphthalmia0PTCH1 CL E G H572777301ORPHA152916889585601309
HP:0000568HP:0000568Microphthalmia0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152916889585601309
HP:0000568HP:0000568Microphthalmia0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112069586603673
HP:0000568HP:0000568Microphthalmia0RAB18 CL E G H229312510ORPHA1511414244602207
HP:0000568HP:0000568Microphthalmia0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1511414244602207
HP:0000568HP:0000568Microphthalmia0RAB3GAP1 CL E G H229302510ORPHA16716517063602536
HP:0000568HP:0000568Microphthalmia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16716517063602536
HP:0000568HP:0000568Microphthalmia0RAB3GAP2 CL E G H257822510ORPHA11623317168609275
HP:0000568HP:0000568Microphthalmia0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11623317168609275
HP:0000568HP:0000568Microphthalmia0RARB CL E G H59152470ORPHA16549865180220
HP:0000568HP:0000568Microphthalmia0RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM16549865180220
HP:0000568HP:0000568Microphthalmia0RAX CL E G H30062611038Microphthalmia, isolated 3611038C1970237OMIM11413018662601881
HP:0000568HP:0000568Microphthalmia0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA111139809884614041
HP:0000568HP:0000568Microphthalmia0RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161349891604124
HP:0000568HP:0000568Microphthalmia0RBP4 CL E G H5950616428Microphthalmia, isolated, with coloboma 10616428C4225330OMIM18329922180250
HP:0000568HP:0000568Microphthalmia0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110715724147183
HP:0000568HP:0000568Microphthalmia0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112215789949603780
HP:0000568HP:0000568Microphthalmia0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251509965605226
HP:0000568HP:0000568Microphthalmia0RPGRIP1 CL E G H57096564ORPHA114923713436605446
HP:0000568HP:0000568Microphthalmia0RPGRIP1L CL E G H23322564ORPHA15130329168610937
HP:0000568HP:0000568Microphthalmia0RPGRIP1L CL E G H23322611561Meckel syndrome type 5611561C1969052OMIM15130329168610937
HP:0000568HP:0000568Microphthalmia0RSPO2 CL E G H3404193301Lowry syndromeORPHA124028583610575
HP:0000568HP:0000568Microphthalmia0RXYLT1 CL E G H10329899ORPHA189113530605862
HP:0000568HP:0000568Microphthalmia0SEMA3E CL E G H9723138ORPHA1412210727608166
HP:0000568HP:0000568Microphthalmia0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1412210727608166
HP:0000568HP:0000568Microphthalmia0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122119910848600725
HP:0000568HP:0000568Microphthalmia0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11610719353607776
HP:0000568HP:0000568Microphthalmia0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1918810889603714
HP:0000568HP:0000568Microphthalmia0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM1114410892606326
HP:0000568HP:0000568Microphthalmia0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1114410892606326
HP:0000568HP:0000568Microphthalmia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000568HP:0000568Microphthalmia0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM112545529090614982
HP:0000568HP:0000568Microphthalmia0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112545529090614982
HP:0000568HP:0000568Microphthalmia0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000568HP:0000568Microphthalmia0SMO CL E G H66081553ORPHA176111119601500
HP:0000568HP:0000568Microphthalmia0SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM176111119601500
HP:0000568HP:0000568Microphthalmia0SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0000568HP:0000568Microphthalmia0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0000568HP:0000568Microphthalmia0SOX2 CL E G H665777298ORPHA11059611195184429
HP:0000568HP:0000568Microphthalmia0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM11059611195184429
HP:0000568HP:0000568Microphthalmia0STRA6 CL E G H642202470ORPHA13315730650610745
HP:0000568HP:0000568Microphthalmia0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14742616466607035
HP:0000568HP:0000568Microphthalmia0SYCE1 CL E G H93426616947Premature ovarian failure 12616947C4310782OMIM1316028852611486
HP:0000568HP:0000568Microphthalmia0TBC1D20 CL E G H1286372510ORPHA179816133611663
HP:0000568HP:0000568Microphthalmia0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM179816133611663
HP:0000568HP:0000568Microphthalmia0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12513329529608628
HP:0000568HP:0000568Microphthalmia0TBR1 CL E G H107161617ORPHA1186611590604616
HP:0000568HP:0000568Microphthalmia0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153711594604127
HP:0000568HP:0000568Microphthalmia0TCTN2 CL E G H79867564ORPHA11516625774613846
HP:0000568HP:0000568Microphthalmia0TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM11516625774613846
HP:0000568HP:0000568Microphthalmia0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317529944610083
HP:0000568HP:0000568Microphthalmia0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1447711742107580
HP:0000568HP:0000568Microphthalmia0TMEM107 CL E G H84314564ORPHA134328128616183
HP:0000568HP:0000568Microphthalmia0TMEM216 CL E G H51259564ORPHA188925018613277
HP:0000568HP:0000568Microphthalmia0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM188925018613277
HP:0000568HP:0000568Microphthalmia0TMEM231 CL E G H79583564ORPHA11913837234614949
HP:0000568HP:0000568Microphthalmia0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11114114432614423
HP:0000568HP:0000568Microphthalmia0TMEM67 CL E G H91147564ORPHA117427928396609884
HP:0000568HP:0000568Microphthalmia0TMEM98 CL E G H2602235612ORPHA161424529615949
HP:0000568HP:0000568Microphthalmia0TMEM98 CL E G H26022615972Nanophthalmos 4615972C4014848OMIM161424529615949
HP:0000568HP:0000568Microphthalmia0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1214812307604507
HP:0000568HP:0000568Microphthalmia0TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM165316691609610
HP:0000568HP:0000568Microphthalmia0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1729818127610053
HP:0000568HP:0000568Microphthalmia0VAX1 CL E G H11023614402Microphthalmia, syndromic 11614402C3553077OMIM144112660604294
HP:0000568HP:0000568Microphthalmia0VSX2 CL E G H338917610093Microphthalmia, isolated 2610093C1864720OMIM1131191975142993
HP:0000568HP:0000568Microphthalmia0VSX2 CL E G H338917610092Microphthalmia, isolated, with coloboma 3610092C1864721OMIM1131191975142993
HP:0000568HP:0000568Microphthalmia0WDPCP CL E G H51057564ORPHA1811128027613580
HP:0000568HP:0000568Microphthalmia0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129325928616144
HP:0000568HP:0000568Microphthalmia0WNT3 CL E G H74733301Lowry syndromeORPHA122912782165330
HP:0000568HP:0000568Microphthalmia0WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM122912782165330
HP:0000568HP:0000568Microphthalmia0XYLT2 CL E G H6413285194ORPHA1135515517608125
HP:0000568HP:0000568Microphthalmia0YAP1 CL E G H104131473Congenital articular rigidityORPHA1123516262606608
HP:0000568HP:0000568Microphthalmia1ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM125133409600463
HP:0000568HP:0000568Microphthalmia1ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM16697179603178
HP:0000568HP:0000568Microphthalmia1ALX1 CL E G H8092306542ORPHA15291494601527
HP:0000568HP:0000568Microphthalmia1ALX1 CL E G H8092613456Frontonasal dysplasia 3613456C3150706OMIM15291494601527
HP:0000568HP:0000568Microphthalmia1ALX3 CL E G H257391474ORPHA1835449606014
HP:0000568HP:0000568Microphthalmia1ALX3 CL E G H257136760Frontonasal dysplasia 1136760C1876203OMIM1835449606014
HP:0000568HP:0000568Microphthalmia1ALX4 CL E G H60529228390ORPHA127173450605420
HP:0000568HP:0000568Microphthalmia1ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1719829216610911
HP:0000568HP:0000568Microphthalmia1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA1719829216610911
HP:0000568HP:0000568Microphthalmia1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM192213907609875
HP:0000568HP:0000568Microphthalmia1B3GALNT2 CL E G H148789899ORPHA11618128596610194
HP:0000568HP:0000568Microphthalmia1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11618128596610194
HP:0000568HP:0000568Microphthalmia1B4GAT1 CL E G H11041899ORPHA177615685605517
HP:0000568HP:0000568Microphthalmia1B9D1 CL E G H27077564ORPHA11014624123614144
HP:0000568HP:0000568Microphthalmia1B9D2 CL E G H80776564ORPHA145928636611951
HP:0000568HP:0000568Microphthalmia1BCOR CL E G H54880568Aggressive fibromatosisORPHA15538420893300485
HP:0000568HP:0000568Microphthalmia1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA15538420893300485
HP:0000568HP:0000568Microphthalmia1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15538420893300485
HP:0000568HP:0000568Microphthalmia1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15538420893300485
HP:0000568HP:0000568Microphthalmia1BMP4 CL E G H652139471ORPHA148761071112262
HP:0000568HP:0000568Microphthalmia1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM148761071112262
HP:0000568HP:0000568Microphthalmia1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM1282481421100113705
HP:0000568HP:0000568Microphthalmia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120831148602452
HP:0000568HP:0000568Microphthalmia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1292461149602860
HP:0000568HP:0000568Microphthalmia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0000568HP:0000568Microphthalmia1CC2D2A CL E G H57545564ORPHA19648029253612013
HP:0000568HP:0000568Microphthalmia1CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181341857600236
HP:0000568HP:0000568Microphthalmia1CEP120 CL E G H153241616300Short-rib thoracic dysplasia 13 with or without polydactyly616300C4225378OMIM197626690613446
HP:0000568HP:0000568Microphthalmia1CEP290 CL E G H80184564ORPHA131064529021610142
HP:0000568HP:0000568Microphthalmia1CEP55 CL E G H55165564ORPHA12311161610000
HP:0000568HP:0000568Microphthalmia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA159630794607951
HP:0000568HP:0000568Microphthalmia1CHD7 CL E G H55636138ORPHA1884102520626608892
HP:0000568HP:0000568Microphthalmia1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884102520626608892
HP:0000568HP:0000568Microphthalmia1COL4A1 CL E G H1282899ORPHA11144282202120130
HP:0000568HP:0000568Microphthalmia1COX7B CL E G H13492556ORPHA151622291300885
HP:0000568HP:0000568Microphthalmia1COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151622291300885
HP:0000568HP:0000568Microphthalmia1CSPP1 CL E G H79848564ORPHA12717326193611654
HP:0000568HP:0000568Microphthalmia1CTDP1 CL E G H915048431ORPHA112432498604927
HP:0000568HP:0000568Microphthalmia1DAG1 CL E G H1605899ORPHA1112622666128239
HP:0000568HP:0000568Microphthalmia1DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM1112622666128239
HP:0000568HP:0000568Microphthalmia1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA119472910605185
HP:0000568HP:0000568Microphthalmia1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA12220119189614194
HP:0000568HP:0000568Microphthalmia1DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121722993611428
HP:0000568HP:0000568Microphthalmia1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242473012612779
HP:0000568HP:0000568Microphthalmia1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912323133300205
HP:0000568HP:0000568Microphthalmia1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA194828526614789
HP:0000568HP:0000568Microphthalmia1ERCC1 CL E G H20671466ORPHA18573433126380
HP:0000568HP:0000568Microphthalmia1ERCC2 CL E G H20681466ORPHA11081863434126340
HP:0000568HP:0000568Microphthalmia1ERCC2 CL E G H2068610756Cerebrooculofacioskeletal syndrome 2610756C1853102OMIM11081863434126340
HP:0000568HP:0000568Microphthalmia1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11081863434126340
HP:0000568HP:0000568Microphthalmia1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201003435133510
HP:0000568HP:0000568Microphthalmia1ERCC5 CL E G H20731466ORPHA1592273437133530
HP:0000568HP:0000568Microphthalmia1ERCC6 CL E G H20741466ORPHA11404183438609413
HP:0000568HP:0000568Microphthalmia1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404183438609413
HP:0000568HP:0000568Microphthalmia1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404183438609413
HP:0000568HP:0000568Microphthalmia1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13119027230609353
HP:0000568HP:0000568Microphthalmia1FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM193824725615292
HP:0000568HP:0000568Microphthalmia1FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM193824725615292
HP:0000568HP:0000568Microphthalmia1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM168910043582607139
HP:0000568HP:0000568Microphthalmia1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1657643584613899
HP:0000568HP:0000568Microphthalmia1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1642993585613984
HP:0000568HP:0000568Microphthalmia1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1171433586613976
HP:0000568HP:0000568Microphthalmia1FANCI CL E G H55215609053Fanconi anemia, complementation group I609053C1836861OMIM14539325568611360
HP:0000568HP:0000568Microphthalmia1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653063688136350
HP:0000568HP:0000568Microphthalmia1FGFR1 CL E G H22602117Encephalopathy recurrent of childhoodORPHA12653063688136350
HP:0000568HP:0000568Microphthalmia1FKRP CL E G H79147899ORPHA114134917997606596
HP:0000568HP:0000568Microphthalmia1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114134917997606596
HP:0000568HP:0000568Microphthalmia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114134917997606596
HP:0000568HP:0000568Microphthalmia1FKTN CL E G H2218899ORPHA1593703622607440
HP:0000568HP:0000568Microphthalmia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1593703622607440
HP:0000568HP:0000568Microphthalmia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1593703622607440
HP:0000568HP:0000568Microphthalmia1FOXE3 CL E G H230183461ORPHA131583808601094
HP:0000568HP:0000568Microphthalmia1FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131583808601094
HP:0000568HP:0000568Microphthalmia1FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241651092605597
HP:0000568HP:0000568Microphthalmia1FRAS1 CL E G H801442052ORPHA16151319185607830
HP:0000568HP:0000568Microphthalmia1FREM1 CL E G H158326248450Marles Greenberg Persaud syndrome248450C1855425OMIM13536023399608944
HP:0000568HP:0000568Microphthalmia1FREM2 CL E G H3416402052ORPHA12539225396608945
HP:0000568HP:0000568Microphthalmia1GDF3 CL E G H9573613704Microphthalmia, isolated 7613704C3150969OMIM16624218606522
HP:0000568HP:0000568Microphthalmia1GDF6 CL E G H392255613094Microphthalmia, isolated 4613094C2751307OMIM1211074221601147
HP:0000568HP:0000568Microphthalmia1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091074274121014
HP:0000568HP:0000568Microphthalmia1GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091074274121014
HP:0000568HP:0000568Microphthalmia1GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883184318165230
HP:0000568HP:0000568Microphthalmia1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12444464319165240
HP:0000568HP:0000568Microphthalmia1GRIP1 CL E G H234262052ORPHA11812618708604597
HP:0000568HP:0000568Microphthalmia1HCCS CL E G H30522556ORPHA1141984837300056
HP:0000568HP:0000568Microphthalmia1HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1141984837300056
HP:0000568HP:0000568Microphthalmia1HDAC6 CL E G H10013163966ORPHA1319214064300272
HP:0000568HP:0000568Microphthalmia1HDAC6 CL E G H10013300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia300863C3275476OMIM1319214064300272
HP:0000568HP:0000568Microphthalmia1HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111825004300193
HP:0000568HP:0000568Microphthalmia1HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM14655017142992
HP:0000568HP:0000568Microphthalmia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1342415173190020
HP:0000568HP:0000568Microphthalmia1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512825961300248
HP:0000568HP:0000568Microphthalmia1INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM1123129239610621
HP:0000568HP:0000568Microphthalmia1ISPD CL E G H729920899ORPHA137137276614631
HP:0000568HP:0000568Microphthalmia1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM137137276614631
HP:0000568HP:0000568Microphthalmia1KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701146388148760
HP:0000568HP:0000568Microphthalmia1KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM1167419181611279
HP:0000568HP:0000568Microphthalmia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1452656407190070
HP:0000568HP:0000568Microphthalmia1LARGE1 CL E G H9215899ORPHA1283466511603590
HP:0000568HP:0000568Microphthalmia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1283466511603590
HP:0000568HP:0000568Microphthalmia1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM12212746697603506
HP:0000568HP:0000568Microphthalmia1MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM19386758604357
HP:0000568HP:0000568Microphthalmia1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14586891605789
HP:0000568HP:0000568Microphthalmia1MBTPS2 CL E G H5136085284ORPHA12620415455300294
HP:0000568HP:0000568Microphthalmia1MFRP CL E G H8355235612ORPHA13117118121606227
HP:0000568HP:0000568Microphthalmia1MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13117118121606227
HP:0000568HP:0000568Microphthalmia1MFRP CL E G H83552609549Nanophthalmos 2609549C1836006OMIM13117118121606227
HP:0000568HP:0000568Microphthalmia1MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM1611857105156845
HP:0000568HP:0000568Microphthalmia1MKS1 CL E G H54903564ORPHA1522737121609883
HP:0000568HP:0000568Microphthalmia1MKS1 CL E G H54903249000Meckel syndrome type 1249000C3714506OMIM1522737121609883
HP:0000568HP:0000568Microphthalmia1NAA10 CL E G H8260568Aggressive fibromatosisORPHA11028118704300013
HP:0000568HP:0000568Microphthalmia1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11028118704300013
HP:0000568HP:0000568Microphthalmia1NDP CL E G H4693649ORPHA11672037678300658
HP:0000568HP:0000568Microphthalmia1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672037678300658
HP:0000568HP:0000568Microphthalmia1NDUFB11 CL E G H545392556ORPHA1616120372300403
HP:0000568HP:0000568Microphthalmia1NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616120372300403
HP:0000568HP:0000568Microphthalmia1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523367820300457
HP:0000568HP:0000568Microphthalmia1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA112413307881190198
HP:0000568HP:0000568Microphthalmia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1141417989164790
HP:0000568HP:0000568Microphthalmia1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643218108300535
HP:0000568HP:0000568Microphthalmia1OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174418028610107
HP:0000568HP:0000568Microphthalmia1OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178738522600037
HP:0000568HP:0000568Microphthalmia1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM198858616167409
HP:0000568HP:0000568Microphthalmia1PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714358620607108
HP:0000568HP:0000568Microphthalmia1PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM11378788602676
HP:0000568HP:0000568Microphthalmia1PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231228923606879
HP:0000568HP:0000568Microphthalmia1PIEZO2 CL E G H63895248700Marden-Walker syndrome248700C0796033OMIM13231526270613629
HP:0000568HP:0000568Microphthalmia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1573388975171834
HP:0000568HP:0000568Microphthalmia1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM115299006602669
HP:0000568HP:0000568Microphthalmia1PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM165311397605031
HP:0000568HP:0000568Microphthalmia1POMGNT1 CL E G H55624899ORPHA18940019139606822
HP:0000568HP:0000568Microphthalmia1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18940019139606822
HP:0000568HP:0000568Microphthalmia1POMGNT2 CL E G H84892899ORPHA1915125902614828
HP:0000568HP:0000568Microphthalmia1POMGNT2 CL E G H84892614830Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8614830C3553813OMIM1915125902614828
HP:0000568HP:0000568Microphthalmia1POMK CL E G H84197899ORPHA1812426267615247
HP:0000568HP:0000568Microphthalmia1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1812426267615247
HP:0000568HP:0000568Microphthalmia1POMT1 CL E G H10585899ORPHA1964449202607423
HP:0000568HP:0000568Microphthalmia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1964449202607423
HP:0000568HP:0000568Microphthalmia1POMT2 CL E G H29954899ORPHA17542519743607439
HP:0000568HP:0000568Microphthalmia1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17542519743607439
HP:0000568HP:0000568Microphthalmia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17542519743607439
HP:0000568HP:0000568Microphthalmia1PORCN CL E G H648402092EhrlichiosisORPHA112120417652300651
HP:0000568HP:0000568Microphthalmia1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112120417652300651
HP:0000568HP:0000568Microphthalmia1PRSS56 CL E G H64696035612ORPHA1245339433613858
HP:0000568HP:0000568Microphthalmia1PRSS56 CL E G H646960613517Microphthalmia, isolated 6613517C3150757OMIM1245339433613858
HP:0000568HP:0000568Microphthalmia1PTCH1 CL E G H572777301ORPHA152916889585601309
HP:0000568HP:0000568Microphthalmia1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152916889585601309
HP:0000568HP:0000568Microphthalmia1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112069586603673
HP:0000568HP:0000568Microphthalmia1RAB18 CL E G H229312510ORPHA1511414244602207
HP:0000568HP:0000568Microphthalmia1RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1511414244602207
HP:0000568HP:0000568Microphthalmia1RAB3GAP1 CL E G H229302510ORPHA16716517063602536
HP:0000568HP:0000568Microphthalmia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16716517063602536
HP:0000568HP:0000568Microphthalmia1RAB3GAP2 CL E G H257822510ORPHA11623317168609275
HP:0000568HP:0000568Microphthalmia1RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11623317168609275
HP:0000568HP:0000568Microphthalmia1RARB CL E G H59152470ORPHA16549865180220
HP:0000568HP:0000568Microphthalmia1RARB CL E G H5915615524Microphthalmia, syndromic 12615524C3809803OMIM16549865180220
HP:0000568HP:0000568Microphthalmia1RAX CL E G H30062611038Microphthalmia, isolated 3611038C1970237OMIM11413018662601881
HP:0000568HP:0000568Microphthalmia1RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA111139809884614041
HP:0000568HP:0000568Microphthalmia1RBBP8 CL E G H5932606744Seckel syndrome 2606744C1847572OMIM161349891604124
HP:0000568HP:0000568Microphthalmia1RBP4 CL E G H5950616428Microphthalmia, isolated, with coloboma 10616428C4225330OMIM18329922180250
HP:0000568HP:0000568Microphthalmia1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA110715724147183
HP:0000568HP:0000568Microphthalmia1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112215789949603780
HP:0000568HP:0000568Microphthalmia1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251509965605226
HP:0000568HP:0000568Microphthalmia1RPGRIP1 CL E G H57096564ORPHA114923713436605446
HP:0000568HP:0000568Microphthalmia1RPGRIP1L CL E G H23322564ORPHA15130329168610937
HP:0000568HP:0000568Microphthalmia1RPGRIP1L CL E G H23322611561Meckel syndrome type 5611561C1969052OMIM15130329168610937
HP:0000568HP:0000568Microphthalmia1RSPO2 CL E G H3404193301Lowry syndromeORPHA124028583610575
HP:0000568HP:0000568Microphthalmia1RXYLT1 CL E G H10329899ORPHA189113530605862
HP:0000568HP:0000568Microphthalmia1SEMA3E CL E G H9723138ORPHA1412210727608166
HP:0000568HP:0000568Microphthalmia1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1412210727608166
HP:0000568HP:0000568Microphthalmia1SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM122119910848600725
HP:0000568HP:0000568Microphthalmia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11610719353607776
HP:0000568HP:0000568Microphthalmia1SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1918810889603714
HP:0000568HP:0000568Microphthalmia1SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM1114410892606326
HP:0000568HP:0000568Microphthalmia1SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM1114410892606326
HP:0000568HP:0000568Microphthalmia1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000568HP:0000568Microphthalmia1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM112545529090614982
HP:0000568HP:0000568Microphthalmia1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112545529090614982
HP:0000568HP:0000568Microphthalmia1SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000568HP:0000568Microphthalmia1SMO CL E G H66081553ORPHA176111119601500
HP:0000568HP:0000568Microphthalmia1SMO CL E G H6608601707Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development601707C0795915OMIM176111119601500
HP:0000568HP:0000568Microphthalmia1SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0000568HP:0000568Microphthalmia1SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0000568HP:0000568Microphthalmia1SOX2 CL E G H665777298ORPHA11059611195184429
HP:0000568HP:0000568Microphthalmia1SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM11059611195184429
HP:0000568HP:0000568Microphthalmia1STRA6 CL E G H642202470ORPHA13315730650610745
HP:0000568HP:0000568Microphthalmia1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14742616466607035
HP:0000568HP:0000568Microphthalmia1SYCE1 CL E G H93426616947Premature ovarian failure 12616947C4310782OMIM1316028852611486
HP:0000568HP:0000568Microphthalmia1TBC1D20 CL E G H1286372510ORPHA179816133611663
HP:0000568HP:0000568Microphthalmia1TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM179816133611663
HP:0000568HP:0000568Microphthalmia1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12513329529608628
HP:0000568HP:0000568Microphthalmia1TBR1 CL E G H107161617ORPHA1186611590604616
HP:0000568HP:0000568Microphthalmia1TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153711594604127
HP:0000568HP:0000568Microphthalmia1TCTN2 CL E G H79867564ORPHA11516625774613846
HP:0000568HP:0000568Microphthalmia1TCTN2 CL E G H79867613885Meckel syndrome type 8613885C3836857OMIM11516625774613846
HP:0000568HP:0000568Microphthalmia1TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317529944610083
HP:0000568HP:0000568Microphthalmia1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1447711742107580
HP:0000568HP:0000568Microphthalmia1TMEM107 CL E G H84314564ORPHA134328128616183
HP:0000568HP:0000568Microphthalmia1TMEM216 CL E G H51259564ORPHA188925018613277
HP:0000568HP:0000568Microphthalmia1TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM188925018613277
HP:0000568HP:0000568Microphthalmia1TMEM231 CL E G H79583564ORPHA11913837234614949
HP:0000568HP:0000568Microphthalmia1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11114114432614423
HP:0000568HP:0000568Microphthalmia1TMEM67 CL E G H91147564ORPHA117427928396609884
HP:0000568HP:0000568Microphthalmia1TMEM98 CL E G H2602235612ORPHA161424529615949
HP:0000568HP:0000568Microphthalmia1TMEM98 CL E G H26022615972Nanophthalmos 4615972C4014848OMIM161424529615949
HP:0000568HP:0000568Microphthalmia1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1214812307604507
HP:0000568HP:0000568Microphthalmia1TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM165316691609610
HP:0000568HP:0000568Microphthalmia1TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1729818127610053
HP:0000568HP:0000568Microphthalmia1VAX1 CL E G H11023614402Microphthalmia, syndromic 11614402C3553077OMIM144112660604294
HP:0000568HP:0000568Microphthalmia1VSX2 CL E G H338917610093Microphthalmia, isolated 2610093C1864720OMIM1131191975142993
HP:0000568HP:0000568Microphthalmia1VSX2 CL E G H338917610092Microphthalmia, isolated, with coloboma 3610092C1864721OMIM1131191975142993
HP:0000568HP:0000568Microphthalmia1WDPCP CL E G H51057564ORPHA1811128027613580
HP:0000568HP:0000568Microphthalmia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129325928616144
HP:0000568HP:0000568Microphthalmia1WNT3 CL E G H74733301Lowry syndromeORPHA122912782165330
HP:0000568HP:0000568Microphthalmia1WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM122912782165330
HP:0000568HP:0000568Microphthalmia1XYLT2 CL E G H6413285194ORPHA1135515517608125
HP:0000568HP:0000568Microphthalmia1YAP1 CL E G H104131473Congenital articular rigidityORPHA1123516262606608
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000568HP:0000568Microphthalmia0ABCB6 CL E G H10058614497Microphthalmia, isolated, with coloboma 7614497C3281027OMIM0605347605452
HP:0000568HP:0000568Microphthalmia0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM065207132102630
HP:0000568HP:0000568Microphthalmia0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM048254144102560
HP:0000568HP:0000568Microphthalmia0ARVCF CL E G H421567ORPHA02462728602269
HP:0000568HP:0000568Microphthalmia0ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM0448757600582
HP:0000568HP:0000568Microphthalmia0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM031927212703607854
HP:0000568HP:0000568Microphthalmia0BRCA1 CL E G H67284ORPHA0282481421100113705
HP:0000568HP:0000568Microphthalmia0BRCA2 CL E G H67584ORPHA03025116741101600185
HP:0000568HP:0000568Microphthalmia0BRIP1 CL E G H8399084ORPHA0202252620473605882
HP:0000568HP:0000568Microphthalmia0BRIP1 CL E G H83990609054Fanconi anemia, complementation group J609054C1836860OMIM0202252620473605882
HP:0000568HP:0000568Microphthalmia0C12orf57 CL E G H1132461777ORPHA089729521615140
HP:0000568HP:0000568Microphthalmia0CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM031064529021610142
HP:0000568HP:0000568Microphthalmia0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144282202120130
HP:0000568HP:0000568Microphthalmia0COMT CL E G H1312567ORPHA0155412228116790
HP:0000568HP:0000568Microphthalmia0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM0271192388123580
HP:0000568HP:0000568Microphthalmia0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA084817748607861
HP:0000568HP:0000568Microphthalmia0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM02220119189614194
HP:0000568HP:0000568Microphthalmia0EBP CL E G H1068235173ORPHA0912323133300205
HP:0000568HP:0000568Microphthalmia0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM01081863434126340
HP:0000568HP:0000568Microphthalmia0ERCC4 CL E G H207284ORPHA0722413436133520
HP:0000568HP:0000568Microphthalmia0ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM0592273437133530
HP:0000568HP:0000568Microphthalmia0ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM0592273437133530
HP:0000568HP:0000568Microphthalmia0ESCO2 CL E G H1575703103ORPHA03119027230609353
HP:0000568HP:0000568Microphthalmia0FANCA CL E G H217584ORPHA068910043582607139
HP:0000568HP:0000568Microphthalmia0FANCB CL E G H218784ORPHA0213193583300515
HP:0000568HP:0000568Microphthalmia0FANCB CL E G H21873412ORPHA0213193583300515
HP:0000568HP:0000568Microphthalmia0FANCC CL E G H217684ORPHA0657643584613899
HP:0000568HP:0000568Microphthalmia0FANCD2 CL E G H217784ORPHA0642993585613984
HP:0000568HP:0000568Microphthalmia0FANCE CL E G H217884ORPHA0171433586613976
HP:0000568HP:0000568Microphthalmia0FANCF CL E G H218884ORPHA0161543587613897
HP:0000568HP:0000568Microphthalmia0FANCG CL E G H218984ORPHA0922343588602956
HP:0000568HP:0000568Microphthalmia0FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM0922343588602956
HP:0000568HP:0000568Microphthalmia0FANCI CL E G H5521584ORPHA04539325568611360
HP:0000568HP:0000568Microphthalmia0FANCL CL E G H5512084ORPHA02412820748608111
HP:0000568HP:0000568Microphthalmia0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02412820748608111
HP:0000568HP:0000568Microphthalmia0FANCM CL E G H5769784ORPHA05341123168609644
HP:0000568HP:0000568Microphthalmia0FGF3 CL E G H22482791ORPHA020353681164950
HP:0000568HP:0000568Microphthalmia0FREM1 CL E G H1583262717Holmes Borden syndromeORPHA03536023399608944
HP:0000568HP:0000568Microphthalmia0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02444464319165240
HP:0000568HP:0000568Microphthalmia0GP1BB CL E G H2812567ORPHA0533874440138720
HP:0000568HP:0000568Microphthalmia0HIRA CL E G H7290567ORPHA053834916600237
HP:0000568HP:0000568Microphthalmia0HYLS1 CL E G H2198442189ORPHA0213026558610693
HP:0000568HP:0000568Microphthalmia0HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM0213026558610693
HP:0000568HP:0000568Microphthalmia0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512825961300248
HP:0000568HP:0000568Microphthalmia0JMJD1C CL E G H221037567ORPHA02931412313604503
HP:0000568HP:0000568Microphthalmia0KIF11 CL E G H38322526ORPHA0701146388148760
HP:0000568HP:0000568Microphthalmia0KIF7 CL E G H3746542189ORPHA04531930497611254
HP:0000568HP:0000568Microphthalmia0LRP5 CL E G H40412788ORPHA02212746697603506
HP:0000568HP:0000568Microphthalmia0MAD2L2 CL E G H1045984ORPHA01536764604094
HP:0000568HP:0000568Microphthalmia0MAPRE2 CL E G H109822505ORPHA04586891605789
HP:0000568HP:0000568Microphthalmia0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM0194916002609188
HP:0000568HP:0000568Microphthalmia0NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM01672037678300658
HP:0000568HP:0000568Microphthalmia0NHS CL E G H4810627ORPHA0523367820300457
HP:0000568HP:0000568Microphthalmia0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643218108300535
HP:0000568HP:0000568Microphthalmia0PALB2 CL E G H7972884ORPHA0417286326144610355
HP:0000568HP:0000568Microphthalmia0PEX7 CL E G H5191773ORPHA0531688860601757
HP:0000568HP:0000568Microphthalmia0PHYH CL E G H5264773ORPHA037878940602026
HP:0000568HP:0000568Microphthalmia0PIGN CL E G H235562059ORPHA0343248967606097
HP:0000568HP:0000568Microphthalmia0POLR1C CL E G H9533861ORPHA0218020194610060
HP:0000568HP:0000568Microphthalmia0POLR1D CL E G H51082861ORPHA0266920422613715
HP:0000568HP:0000568Microphthalmia0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM0222119330300463
HP:0000568HP:0000568Microphthalmia0PXDN CL E G H7837269400Anterior segment dysgenesis 7269400C3151617OMIM01417814966605158
HP:0000568HP:0000568Microphthalmia0RAD51 CL E G H588884ORPHA016349817179617
HP:0000568HP:0000568Microphthalmia0RAD51C CL E G H588984ORPHA01319419820602774
HP:0000568HP:0000568Microphthalmia0RFWD3 CL E G H5515984ORPHA024625539614151
HP:0000568HP:0000568Microphthalmia0RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM016174496605706
HP:0000568HP:0000568Microphthalmia0RREB1 CL E G H6239567ORPHA01216810449602209
HP:0000568HP:0000568Microphthalmia0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08820510524602218
HP:0000568HP:0000568Microphthalmia0SALL4 CL E G H57167959ORPHA05715315924607343
HP:0000568HP:0000568Microphthalmia0SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM05715315924607343
HP:0000568HP:0000568Microphthalmia0SEC24C CL E G H9632567ORPHA02310705607185
HP:0000568HP:0000568Microphthalmia0SH2B1 CL E G H25970261197ORPHA01615030417608937
HP:0000568HP:0000568Microphthalmia0SHH CL E G H6469147250Single median maxillary incisor147250C1840235OMIM022119910848600725
HP:0000568HP:0000568Microphthalmia0SIN3A CL E G H2594294065ORPHA01610719353607776
HP:0000568HP:0000568Microphthalmia0SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM01810632434615585
HP:0000568HP:0000568Microphthalmia0SLX4 CL E G H8446484ORPHA07260223845613278
HP:0000568HP:0000568Microphthalmia0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM014710516770600993
HP:0000568HP:0000568Microphthalmia0TBX1 CL E G H6899567ORPHA08248611592602054
HP:0000568HP:0000568Microphthalmia0TCOF1 CL E G H6949861ORPHA033326411654606847
HP:0000568HP:0000568Microphthalmia0TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM088925018613277
HP:0000568HP:0000568Microphthalmia0TUBB CL E G H2030682505ORPHA083020778191130
HP:0000568HP:0000568Microphthalmia0TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083020778191130
HP:0000568HP:0000568Microphthalmia0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM083020778191130
HP:0000568HP:0000568Microphthalmia0UBE2T CL E G H2908984ORPHA071425009610538
HP:0000568HP:0000568Microphthalmia0UFD1 CL E G H7353567ORPHA0435212520601754
HP:0000568HP:0000568Microphthalmia0VPS13B CL E G H157680193ORPHA021311642183607817
HP:0000568HP:0000568Microphthalmia0XRCC2 CL E G H751684ORPHA02332412829600375
HP:0000568HP:0000568Microphthalmia0YAP1 CL E G H10413120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation120433C1852750OMIM0123516262606608
HP:0000568HP:0000568Microphthalmia1ABCB6 CL E G H10058614497Microphthalmia, isolated, with coloboma 7614497C3281027OMIM0605347605452
HP:0000568HP:0000568Microphthalmia1ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM065207132102630
HP:0000568HP:0000568Microphthalmia1ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM048254144102560
HP:0000568HP:0000568Microphthalmia1ARVCF CL E G H421567ORPHA02462728602269
HP:0000568HP:0000568Microphthalmia1ASPH CL E G H444601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs601552C1832167OMIM0448757600582
HP:0000568HP:0000568Microphthalmia1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM031927212703607854
HP:0000568HP:0000568Microphthalmia1BRCA1 CL E G H67284ORPHA0282481421100113705
HP:0000568HP:0000568Microphthalmia1BRCA2 CL E G H67584ORPHA03025116741101600185
HP:0000568HP:0000568Microphthalmia1BRIP1 CL E G H8399084ORPHA0202252620473605882
HP:0000568HP:0000568Microphthalmia1BRIP1 CL E G H83990609054Fanconi anemia, complementation group J609054C1836860OMIM0202252620473605882
HP:0000568HP:0000568Microphthalmia1C12orf57 CL E G H1132461777ORPHA089729521615140
HP:0000568HP:0000568Microphthalmia1CEP290 CL E G H80184611134Meckel syndrome type 4611134C1970161OMIM031064529021610142
HP:0000568HP:0000568Microphthalmia1COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144282202120130
HP:0000568HP:0000568Microphthalmia1COMT CL E G H1312567ORPHA0155412228116790
HP:0000568HP:0000568Microphthalmia1CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM0271192388123580
HP:0000568HP:0000568Microphthalmia1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA084817748607861
HP:0000568HP:0000568Microphthalmia1DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM02220119189614194
HP:0000568HP:0000568Microphthalmia1EBP CL E G H1068235173ORPHA0912323133300205
HP:0000568HP:0000568Microphthalmia1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM01081863434126340
HP:0000568HP:0000568Microphthalmia1ERCC4 CL E G H207284ORPHA0722413436133520
HP:0000568HP:0000568Microphthalmia1ERCC5 CL E G H2073616570Cerebrooculofacioskeletal syndrome 3616570C1851443OMIM0592273437133530
HP:0000568HP:0000568Microphthalmia1ERCC5 CL E G H2073278780Xeroderma pigmentosum, group G278780C0268141OMIM0592273437133530
HP:0000568HP:0000568Microphthalmia1ESCO2 CL E G H1575703103ORPHA03119027230609353
HP:0000568HP:0000568Microphthalmia1FANCA CL E G H217584ORPHA068910043582607139
HP:0000568HP:0000568Microphthalmia1FANCB CL E G H218784ORPHA0213193583300515
HP:0000568HP:0000568Microphthalmia1FANCB CL E G H21873412ORPHA0213193583300515
HP:0000568HP:0000568Microphthalmia1FANCC CL E G H217684ORPHA0657643584613899
HP:0000568HP:0000568Microphthalmia1FANCD2 CL E G H217784ORPHA0642993585613984
HP:0000568HP:0000568Microphthalmia1FANCE CL E G H217884ORPHA0171433586613976
HP:0000568HP:0000568Microphthalmia1FANCF CL E G H218884ORPHA0161543587613897
HP:0000568HP:0000568Microphthalmia1FANCG CL E G H218984ORPHA0922343588602956
HP:0000568HP:0000568Microphthalmia1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM0922343588602956
HP:0000568HP:0000568Microphthalmia1FANCI CL E G H5521584ORPHA04539325568611360
HP:0000568HP:0000568Microphthalmia1FANCL CL E G H5512084ORPHA02412820748608111
HP:0000568HP:0000568Microphthalmia1FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02412820748608111
HP:0000568HP:0000568Microphthalmia1FANCM CL E G H5769784ORPHA05341123168609644
HP:0000568HP:0000568Microphthalmia1FGF3 CL E G H22482791ORPHA020353681164950
HP:0000568HP:0000568Microphthalmia1FREM1 CL E G H1583262717Holmes Borden syndromeORPHA03536023399608944
HP:0000568HP:0000568Microphthalmia1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02444464319165240
HP:0000568HP:0000568Microphthalmia1GP1BB CL E G H2812567ORPHA0533874440138720
HP:0000568HP:0000568Microphthalmia1HIRA CL E G H7290567ORPHA053834916600237
HP:0000568HP:0000568Microphthalmia1HYLS1 CL E G H2198442189ORPHA0213026558610693
HP:0000568HP:0000568Microphthalmia1HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM0213026558610693
HP:0000568HP:0000568Microphthalmia1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512825961300248
HP:0000568HP:0000568Microphthalmia1JMJD1C CL E G H221037567ORPHA02931412313604503
HP:0000568HP:0000568Microphthalmia1KIF11 CL E G H38322526ORPHA0701146388148760
HP:0000568HP:0000568Microphthalmia1KIF7 CL E G H3746542189ORPHA04531930497611254
HP:0000568HP:0000568Microphthalmia1LRP5 CL E G H40412788ORPHA02212746697603506
HP:0000568HP:0000568Microphthalmia1MAD2L2 CL E G H1045984ORPHA01536764604094
HP:0000568HP:0000568Microphthalmia1MAPRE2 CL E G H109822505ORPHA04586891605789
HP:0000568HP:0000568Microphthalmia1MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM0194916002609188
HP:0000568HP:0000568Microphthalmia1NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM01672037678300658
HP:0000568HP:0000568Microphthalmia1NHS CL E G H4810627ORPHA0523367820300457
HP:0000568HP:0000568Microphthalmia1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643218108300535
HP:0000568HP:0000568Microphthalmia1PALB2 CL E G H7972884ORPHA0417286326144610355
HP:0000568HP:0000568Microphthalmia1PEX7 CL E G H5191773ORPHA0531688860601757
HP:0000568HP:0000568Microphthalmia1PHYH CL E G H5264773ORPHA037878940602026
HP:0000568HP:0000568Microphthalmia1PIGN CL E G H235562059ORPHA0343248967606097
HP:0000568HP:0000568Microphthalmia1POLR1C CL E G H9533861ORPHA0218020194610060
HP:0000568HP:0000568Microphthalmia1POLR1D CL E G H51082861ORPHA0266920422613715
HP:0000568HP:0000568Microphthalmia1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM0222119330300463
HP:0000568HP:0000568Microphthalmia1PXDN CL E G H7837269400Anterior segment dysgenesis 7269400C3151617OMIM01417814966605158
HP:0000568HP:0000568Microphthalmia1RAD51 CL E G H588884ORPHA016349817179617
HP:0000568HP:0000568Microphthalmia1RAD51C CL E G H588984ORPHA01319419820602774
HP:0000568HP:0000568Microphthalmia1RFWD3 CL E G H5515984ORPHA024625539614151
HP:0000568HP:0000568Microphthalmia1RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM016174496605706
HP:0000568HP:0000568Microphthalmia1RREB1 CL E G H6239567ORPHA01216810449602209
HP:0000568HP:0000568Microphthalmia1SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA08820510524602218
HP:0000568HP:0000568Microphthalmia1SALL4 CL E G H57167959ORPHA05715315924607343
HP:0000568HP:0000568Microphthalmia1SALL4 CL E G H57167607323Duane-radial ray syndrome607323C1623209OMIM05715315924607343
HP:0000568HP:0000568Microphthalmia1SEC24C CL E G H9632567ORPHA02310705607185
HP:0000568HP:0000568Microphthalmia1SH2B1 CL E G H25970261197ORPHA01615030417608937
HP:0000568HP:0000568Microphthalmia1SHH CL E G H6469147250Single median maxillary incisor147250C1840235OMIM022119910848600725
HP:0000568HP:0000568Microphthalmia1SIN3A CL E G H2594294065ORPHA01610719353607776
HP:0000568HP:0000568Microphthalmia1SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM01810632434615585
HP:0000568HP:0000568Microphthalmia1SLX4 CL E G H8446484ORPHA07260223845613278
HP:0000568HP:0000568Microphthalmia1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM014710516770600993
HP:0000568HP:0000568Microphthalmia1TBX1 CL E G H6899567ORPHA08248611592602054
HP:0000568HP:0000568Microphthalmia1TCOF1 CL E G H6949861ORPHA033326411654606847
HP:0000568HP:0000568Microphthalmia1TMEM216 CL E G H51259603194Meckel syndrome type 2603194C1864148OMIM088925018613277
HP:0000568HP:0000568Microphthalmia1TUBB CL E G H2030682505ORPHA083020778191130
HP:0000568HP:0000568Microphthalmia1TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM083020778191130
HP:0000568HP:0000568Microphthalmia1TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM083020778191130
HP:0000568HP:0000568Microphthalmia1UBE2T CL E G H2908984ORPHA071425009610538
HP:0000568HP:0000568Microphthalmia1UFD1 CL E G H7353567ORPHA0435212520601754
HP:0000568HP:0000568Microphthalmia1VPS13B CL E G H157680193ORPHA021311642183607817
HP:0000568HP:0000568Microphthalmia1XRCC2 CL E G H751684ORPHA02332412829600375
HP:0000568HP:0000568Microphthalmia1YAP1 CL E G H10413120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation120433C1852750OMIM0123516262606608


Genes (215) :ABCB6 ACTB ACTG1 ALDH1A3 ALDH6A1 ALX1 ALX3 ALX4 ARHGAP31 ARVCF ASPH ATOH7 B3GALNT2 B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C12ORF57 CC2D2A CENPF CEP120 CEP290 CEP55 CEP57 CHD7 COL4A1 COMT COX7B CRPPA CRYAA CSPP1 CTDP1 DACT1 DAG1 DLL4 DOCK6 DONSON DPYD EBP EOGT ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ESCO2 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FGF3 FGFR1 FIG4 FKRP FKTN FOXE3 FOXL2 FRAS1 FREM1 FREM2 GDF3 GDF6 GJA1 GLI2 GLI3 GP1BB GRIP1 HCCS HDAC6 HIRA HMGB3 HMX1 HRAS HYLS1 IKBKG INTU ISPD JMJD1C KIF11 KIF14 KIF7 KRAS LARGE1 LRP5 MAB21L2 MAD2L2 MAPRE2 MBTPS2 MFRP MITF MKS1 MPLKIP NAA10 NDP NDUFB11 NHS NOTCH1 NRAS OCRL OSGEP OTX2 PALB2 PAX2 PAX6 PDE6D PEX7 PHGDH PHYH PIEZO2 PIGN PIK3CA PITX3 PLK4 POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PRSS56 PTCH1 PTCH2 PUF60 PXDN RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RARB RAX RB1 RBBP8 RBP4 RBPJ RECQL4 RERE RFWD3 RIPK4 RPGRIP1 RPGRIP1L RREB1 RSPO2 RXYLT1 SALL1 SALL4 SEC24C SEMA3E SH2B1 SHH SIN3A SIX3 SIX6 SLC25A24 SLC38A8 SLX4 SMAD4 SMCHD1 SMG9 SMO SMOC1 SOX2 STRA6 SUFU SYCE1 TBC1D20 TBL1XR1 TBR1 TBX1 TBX15 TCOF1 TCTN2 TENM3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TRIP13 TUBB TUBGCP4 TUBGCP6 UBE2T UFD1 VAC14 VAX1 VPS13B VSX2 WDPCP WDR73 WNT3 XRCC2 XYLT2 YAP1

Diseases (215) :614497 243310 614583 615113 614105 306542 613456 391474 136760 228390 100300 974 567 601552 221900 899 615181 564 568 2712 309800 300166 193220 139471 607932 84 617883 609054 1052 1777 243605 616300 611134 138 214800 607595 2556 309801 614643 604219 48431 857 616538 614219 251230 274270 35173 302960 1466 610756 601675 278730 610651 616570 278780 214150 133540 3103 268300 602361 127000 227650 3412 227645 227646 600901 614082 609053 614083 2791 613001 2117 613153 236670 253800 83461 610256 110100 2052 2717 248450 613704 613094 164200 257850 610829 672 146510 163966 300863 300915 612109 2612 2189 236680 464 308300 617925 2526 152950 617914 2788 259770 615877 2505 616734 85284 35612 611040 609549 617306 249000 234050 649 310600 305390 627 302350 534 309000 617729 610125 120330 120200 615665 773 256520 248700 2059 602501 610623 616171 861 253280 614830 615249 613150 2092 305600 309500 613517 77301 109400 269400 2510 614222 600118 614225 2470 615524 611038 1587 606744 616428 268400 616975 263650 611561 3301 959 607323 261197 611638 147250 94065 613406 157170 212550 206900 612289 609218 139210 603457 2250 616920 1553 601707 1106 206920 77298 616947 615663 602342 1617 260660 613885 615145 113620 608091 603194 614424 615972 615771 156610 616335 251270 614402 193 610093 610092 251300 273395 85194 120433 1473 610758 93325 3472 219000 613703 137902 610828 508488 601186 154500
 

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