Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye morphology (HP:0012372)help
Parent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
..expand
Aplasia/Hypoplasia affecting the eye (HP:0008056)help
Term ID: 8056
Name: Aplasia/Hypoplasia affecting the eye
Synonym: Absent/small eye; Absent/underdeveloped eye
Definition:
Comments:
Reference: HP:0008056
Genes and Diseases:
 
       Child Nodes:
........expandAnophthalmia (HP:0000528) help
................... HP:0011478 True anophthalmia
........expandMicrophthalmia (HP:0000568) help
................... HP:0007633 Bilateral microphthalmos
................... HP:0011480 Unilateral microphthalmos
........expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
................... HP:0007774 Hypoplasia of the ciliary body
................... HP:0008053 Aplasia/Hypoplasia of the iris
........expandAplasia/Hypoplasia affecting the fundus (HP:0008057) help
................... HP:0008058 Aplasia/Hypoplasia of the optic nerve
................... HP:0008061 Aplasia/Hypoplasia of the retina
........expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
................... HP:0007779 Anterior segment of eye aplasia
................... HP:0008053 Aplasia/Hypoplasia of the iris
................... HP:0008063 Aplasia/Hypoplasia of the lens

 Sister Nodes: 
..expandAbnormal anterior eye segment morphology (HP:0004328) help
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal sclera morphology (HP:0000591) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandAbnormality of the vasculature of the eye (HP:0008047) help
..expandPhthisis bulbi (HP:0000667) help
..expandSpontaneous rupture of the globe (HP:0010727) 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:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ABCA4 CL E G H2434ORPHA:827Stargardt disease826
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ABCB6 CL E G H1005847OMIM:614497Microphthalmia, isolated, with coloboma 720
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALDH1A2 CL E G H885415472OMIM:620025
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALDH1A3 CL E G H220409ORPHA:35612Nanophthalmos10
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency35
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 35
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome132
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsy
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BDNF CL E G H6271033ORPHA:893WAGR syndrome5
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BEST1 CL E G H743912703ORPHA:35612Nanophthalmos182
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformation2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CACNA1C CL E G H7751390OMIM:620029572
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease58
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CACNA1F CL E G H7781393ORPHA:178333Ă…land Islands eye disease58
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CDC42BPB CL E G H95781738OMIM:619841
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndrome200
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CEP85L CL E G H38711921638ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsy227
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CNGB3 CL E G H547142153ORPHA:827Stargardt disease194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CRB1 CL E G H234182343ORPHA:35612Nanophthalmos156
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types33
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 2157
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DDHD2 CL E G H2325929106ORPHA:320380Autosomal recessive spastic paraplegia type 5429
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DLX5 CL E G H17492918ORPHA:2440Isolated split hand-split foot malformation3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DLX6 CL E G H17502919ORPHA:2440Isolated split hand-split foot malformation
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DNMT3A CL E G H17882978OMIM:615879Tatton-Brown-Rahman syndrome44
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 218
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency144
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ELOVL4 CL E G H678514415ORPHA:827Stargardt disease62
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0EPS15L1 CL E G H5851324634ORPHA:2440Isolated split hand-split foot malformation
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC1 CL E G H20673433ORPHA:1466COFS syndrome20
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC2 CL E G H20683434ORPHA:1466COFS syndrome106
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC5 CL E G H20733437ORPHA:1466COFS syndrome83
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC6 CL E G H20743438ORPHA:1466COFS syndrome199
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ERF CL E G H20773444OMIM:600775Craniosynostosis 412
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndrome8
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 28
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FBXW4 CL E G H646810847ORPHA:2440Isolated split hand-split foot malformation37
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndrome172
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5157
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXC1 CL E G H22963800ORPHA:250923Isolated aniridia63
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXE3 CL E G H23013808ORPHA:83461Congenital primary aphakia23
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FREM1 CL E G H15832623399OMIM:248450Manitoba oculotrichoanal syndrome198
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FREM1 CL E G H15832623399ORPHA:2717Oculotrichoanal syndrome198
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FREM2 CL E G H34164025396OMIM:123570Cryptophthalmos, unilateral or bilateral, isolated263
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GDF3 CL E G H95734218OMIM:613704Microphthalmia, isolated 77
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GDF6 CL E G H3922554221OMIM:613094MICROPHTHALMIA, ISOLATED 4; MCOP464
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinism64
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndrome21
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia21
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 132
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome177
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KERA CL E G H110816309OMIM:217300Cornea plana 28
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndrome46
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KIF15 CL E G H5699217273OMIM:619981
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LDHD CL E G H19725719708OMIM:245450LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndrome43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome125
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma123
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LTBP2 CL E G H40536715OMIM:614819Weill-Marchesani syndrome 3123
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MACF1 CL E G H2349913664ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbs4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndrome132
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 526
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MFRP CL E G H8355218121ORPHA:35612Nanophthalmos26
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MFRP CL E G H8355218121OMIM:609549Nanophthalmos 226
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MIR184 CL E G H40696031555OMIM:614303Edict syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MITF CL E G H42867105OMIM:617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness91
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies29
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MTSS2 CL E G H9215425094OMIM:620086
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal disease35
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDE1 CL E G H5482017619ORPHA:2177Hydranencephaly96
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDP CL E G H46937678ORPHA:190Coats disease39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsy52
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndrome40
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NHS CL E G H48107820ORPHA:627Nance-Horan syndrome88
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 541
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OTX2 CL E G H50158522ORPHA:35612Nanophthalmos41
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620OMIM:136520Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620ORPHA:250923Isolated aniridia194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasia194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620OMIM:165550OPTIC NERVE HYPOPLASIA, BILATERAL194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620ORPHA:893WAGR syndrome194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome194
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome11
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PEX7 CL E G H51918860ORPHA:773Refsum disease72
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PHYH CL E G H52648940ORPHA:773Refsum disease45
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome77
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome162
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PIK3CD CL E G H52938977ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomalies9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types6
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 211
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PLXNA1 CL E G H53619099OMIM:619955
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndrome180
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMGNT2 CL E G H8489225902OMIM:614830MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 833
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndrome33
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1218
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndrome18
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndrome213
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndrome221
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0POU6F2 CL E G H1128121694ORPHA:654Nephroblastoma2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome13
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PRIM1 CL E G H55579369OMIM:620005
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndrome34
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PROM1 CL E G H88429454ORPHA:827Stargardt disease110
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PRPH2 CL E G H59619942ORPHA:827Stargardt disease159
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 611
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PRSS56 CL E G H64696039433ORPHA:35612Nanophthalmos11
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3665
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis22
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PTF1A CL E G H25629723734ORPHA:65288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome22
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RARB CL E G H59159865ORPHA:2470Matthew-Wood syndrome9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 129
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAX CL E G H3006218662OMIM:611038Microphthalmia, isolated 343
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RAX CL E G H3006218662ORPHA:35612Nanophthalmos43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 108
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0REST CL E G H59789966ORPHA:654Nephroblastoma7
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040283 - Occasional37
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndrome11
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndrome7
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5167
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsy1053
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SEM1 CL E G H797910845ORPHA:2440Isolated split hand-split foot malformation
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SIX6 CL E G H499010892ORPHA:35612Nanophthalmos20
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy20
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI12
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC24A5 CL E G H28365220611ORPHA:370097Oculocutaneous albinism type 612
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsy255
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 213
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsy29
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo type146
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome174
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome33
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SOX2 CL E G H665711195ORPHA:35612Nanophthalmos33
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SPECC1L CL E G H2338429022OMIM:600251Facial clefting, oblique, 16
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndrome71
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 971
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SYCE1 CL E G H9342628852OMIM:616947PREMATURE OVARIAN FAILURE 12; POF124
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsy108
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040283 - Occasional52
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 912
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 1482
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM98 CL E G H2602224529ORPHA:35612Nanophthalmos3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMEM98 CL E G H2602224529OMIM:615972Nanophthalmos 43
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TP63 CL E G H862615979ORPHA:2440Isolated split hand-split foot malformation140
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TRIM28 CL E G H1015516384ORPHA:654Nephroblastoma2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridia1
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TRIP13 CL E G H931912307ORPHA:654Nephroblastoma2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TUBA1A CL E G H784620766ORPHA:171680Lissencephaly due to TUBA1A mutation106
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TUBA8 CL E G H5180712410ORPHA:250972Polymicrogyria with optic nerve hypoplasia21
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 614
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbs14
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TUBGCP4 CL E G H2722916691OMIM:616335Microcephaly and chorioretinopathy, autosomal recessive, 314
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 161
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 115
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VSX2 CL E G H3389171975OMIM:610093MICROPHTHALMIA, ISOLATED 2; MCOP266
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0VSX2 CL E G H3389171975OMIM:610092MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB366
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndrome10
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WNT10B CL E G H748012775ORPHA:2440Isolated split hand-split foot malformation4
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive12
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WT1 CL E G H749012796ORPHA:654Nephroblastoma177
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WT1 CL E G H749012796ORPHA:893WAGR syndrome177
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome177
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndrome5
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0YAP1 CL E G H1041316262OMIM:120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability2
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0008056HP:0008056Aplasia/Hypoplasia affecting the eye0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ABCA4 CL E G H2434ORPHA:827Stargardt disease826
HP:0008056HP:0000568Microphthalmia1ABCB6 CL E G H1005847OMIM:614497Microphthalmia, isolated, with coloboma 7HP:0040283 - Occasional20
HP:0008056HP:0000568Microphthalmia1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1HP:0040283 - Occasional72
HP:0008056HP:0000568Microphthalmia1ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2HP:0040283 - Occasional123
HP:0008056HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye1ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 163
HP:0008056HP:0008055Aplasia/Hypoplasia affecting the uvea1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008056HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ALDH1A2 CL E G H885415472OMIM:620025
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0008056HP:0000528Anophthalmia1ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0008056HP:0000568Microphthalmia1ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 8.10
HP:0008056HP:0000568Microphthalmia1ALDH1A3 CL E G H220409ORPHA:35612NanophthalmosHP:0040281 - Very frequent10
HP:0008056HP:0000568Microphthalmia1ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0008056HP:0000568Microphthalmia1ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0008056HP:0000568Microphthalmia1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0008056HP:0000568Microphthalmia1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0008056HP:0000568Microphthalmia1ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0008056HP:0000568Microphthalmia1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0008056HP:0000568Microphthalmia1ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040282 - Frequent132
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0008056HP:0000568Microphthalmia1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0008056HP:0000568Microphthalmia1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent147
HP:0008056HP:0000568Microphthalmia1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0008056HP:0000568Microphthalmia1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0008056HP:0000568Microphthalmia1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0008056HP:0000568Microphthalmia1ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebsHP:0040283 - Occasional4
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0008056HP:0000568Microphthalmia1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0008056HP:0000568Microphthalmia1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0008056HP:0000568Microphthalmia1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0008056HP:0000568Microphthalmia1B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0008056HP:0008057Aplasia/Hypoplasia affecting the fundus1B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0008056HP:0000528Anophthalmia1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent43
HP:0008056HP:0000568Microphthalmia1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent43
HP:0008056HP:0000528Anophthalmia1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent17
HP:0008056HP:0000568Microphthalmia1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent17
HP:0008056HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye1B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0008056HP:0000568Microphthalmia1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0008056HP:0008055Aplasia/Hypoplasia affecting the uvea1B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0008056HP:0000528Anophthalmia1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0008056HP:0000528Anophthalmia1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0008056HP:0008055Aplasia/Hypoplasia affecting the uvea1B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0008056HP:0000568Microphthalmia1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0008056HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye1B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0008056HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008056HP:0008055Aplasia/Hypoplasia affecting the uvea1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008056HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008056HP:0008055Aplasia/Hypoplasia affecting the uvea1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008056HP:0000568Microphthalmia1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040281 - Very frequent101
HP:0008056HP:0000528Anophthalmia1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0008056HP:0000568Microphthalmia1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0008056HP:0000568Microphthalmia1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0008056HP:0000528Anophthalmia1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0008056HP:0000568Microphthalmia1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040281 - Very frequent101
HP:0008056HP:0008055Aplasia/Hypoplasia affecting the uvea1BDNF CL E G H6271033ORPHA:893WAGR syndrome5
HP:0008056HP:0008062Aplasia/Hypoplasia affecting the anterior segment of the eye1BDNF CL E G H6271033ORPHA:893WAGR syndrome5
HP:0008056HP:0000568Microphthalmia1BEST1 CL E G H743912703ORPHA:35612NanophthalmosHP:0040281 - Very frequent182
HP:0008056HP:0000568Microphthalmia1BEST1 CL E