Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
expand
Abnormal uvea morphology (HP:0000553)help
..Starting node
..expand
Abnormality iris morphology (HP:0000525)help
Term ID: 525
Name: Abnormality iris morphology
Synonym: Abnormality of the iris
Definition: An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.
Comments:
Reference: HP:0000525
Genes and Diseases:
 
       Child Nodes:
........expandIris coloboma (HP:0000612) help
........expandAbnormal pupil morphology (HP:0000615) help
................... HP:0000555 Leukocoria
................... HP:0009916 Anisocoria
................... HP:0009917 Persistent pupillary membrane
................... HP:0009918 Ectopia pupillae
................... HP:0011500 Polycoria
................... HP:0025309 Abnormal pupil shape
................... HP:0025492 Microcoria
........expandIris atrophy (HP:0001089) help
........expandIritis (HP:0001101) help
........expandAbnormal iris vasculature (HP:0007905) help
................... HP:0011497 Iris neovascularization
................... HP:0012635 Iris hypoperfusion
................... HP:0025319 Rubeosis iridis
........expandAbnormal iris pigmentation (HP:0008034) help
................... HP:0000635 Blue irides
................... HP:0001088 Brushfield spots
................... HP:0007730 Iris hypopigmentation
................... HP:0012634 Iris pigment dispersion
................... HP:0012775 Stellate iris
................... HP:0012805 Iris transillumination defect
................... HP:0200064 Asymmetry of iris pigmentation
........expandAplasia/Hypoplasia of the iris (HP:0008053) help
................... HP:0000526 Aniridia
................... HP:0007676 Hypoplasia of the iris
........expandLisch nodules (HP:0009737) help
........expandIris cyst (HP:0011523) help
........expandIris melanoma (HP:0011524) help
........expandIris nevus (HP:0011525) help
........expandUveal ectropion (HP:0025358) help
........expandIridodonesis (HP:0100693) help
........expandIris flocculi (HP:0500007) help

 Sister Nodes: 
..expandAbnormal choroid morphology (HP:0000610) help
..expandAbnormal ciliary body morphology (HP:0012776) help
..expandAplasia/Hypoplasia affecting the uvea (HP:0008055) help
..expandUveitis (HP:0000554) 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:0000525HP:0000525Abnormality iris morphology0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000525HP:0000525Abnormality iris morphology0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0000525HP:0000525Abnormality iris morphology0ACTA2 CL E G H59130OMIM:611788AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT694
HP:0000525HP:0000525Abnormality iris morphology0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent94
HP:0000525HP:0000525Abnormality iris morphology0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0000525HP:0000525Abnormality iris morphology0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000525HP:0000525Abnormality iris morphology0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0000525HP:0000525Abnormality iris morphology0ADAMTS17 CL E G H17069117109OMIM:613195Weill-Marchesani syndrome 4214
HP:0000525HP:0000525Abnormality iris morphology0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000525HP:0000525Abnormality iris morphology0ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillae84
HP:0000525HP:0000525Abnormality iris morphology0ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentis84
HP:0000525HP:0000525Abnormality iris morphology0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2530
HP:0000525HP:0000525Abnormality iris morphology0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000525HP:0000525Abnormality iris morphology0AHI1 CL E G H5480621575ORPHA:475Joubert syndrome175
HP:0000525HP:0000525Abnormality iris morphology0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defect175
HP:0000525HP:0000525Abnormality iris morphology0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000525HP:0000525Abnormality iris morphology0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDG46
HP:0000525HP:0000525Abnormality iris morphology0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000525HP:0000525Abnormality iris morphology0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id37
HP:0000525HP:0000525Abnormality iris morphology0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0000525HP:0000525Abnormality iris morphology0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0000525HP:0000525Abnormality iris morphology0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000525HP:0000525Abnormality iris morphology0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0000525HP:0000525Abnormality iris morphology0AP3D1 CL E G H8943568ORPHA:1000Ocular albinism with late-onset sensorineural deafness1
HP:0000525HP:0000525Abnormality iris morphology0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0000525HP:0000525Abnormality iris morphology0ARL13B CL E G H20089425419ORPHA:475Joubert syndrome62
HP:0000525HP:0000525Abnormality iris morphology0ARL3 CL E G H403694ORPHA:475Joubert syndrome1
HP:0000525HP:0000525Abnormality iris morphology0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0000525HP:0000525Abnormality iris morphology0ARMC9 CL E G H8021020730ORPHA:475Joubert syndrome
HP:0000525HP:0000525Abnormality iris morphology0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3
HP:0000525HP:0000525Abnormality iris morphology0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0000525HP:0000525Abnormality iris morphology0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000525HP:0000525Abnormality iris morphology0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000525HP:0000525Abnormality iris morphology0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0000525HP:0000525Abnormality iris morphology0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0000525HP:0000525Abnormality iris morphology0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0000525HP:0000525Abnormality iris morphology0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0000525HP:0000525Abnormality iris morphology0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0000525HP:0000525Abnormality iris morphology0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0000525HP:0000525Abnormality iris morphology0B9D1 CL E G H2707724123ORPHA:475Joubert syndrome28
HP:0000525HP:0000525Abnormality iris morphology0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0000525HP:0000525Abnormality iris morphology0B9D2 CL E G H8077628636ORPHA:475Joubert syndrome34
HP:0000525HP:0000525Abnormality iris morphology0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0000525HP:0000525Abnormality iris morphology0BAP1 CL E G H8314950ORPHA:39044Uveal melanoma184
HP:0000525HP:0000525Abnormality iris morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0000525HP:0000525Abnormality iris morphology0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000525HP:0000525Abnormality iris morphology0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000525HP:0000525Abnormality iris morphology0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0000525HP:0000525Abnormality iris morphology0BDNF CL E G H6271033ORPHA:893WAGR syndrome5
HP:0000525HP:0000525Abnormality iris morphology0BEST1 CL E G H743912703ORPHA:99000Adult-onset foveomacular vitelliform dystrophy182
HP:0000525HP:0000525Abnormality iris morphology0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0000525HP:0000525Abnormality iris morphology0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000525HP:0000525Abnormality iris morphology0BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 935
HP:0000525HP:0000525Abnormality iris morphology0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0000525HP:0000525Abnormality iris morphology0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0000525HP:0000525Abnormality iris morphology0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0000525HP:0000525Abnormality iris morphology0BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0000525HP:0000525Abnormality iris morphology0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0000525HP:0000525Abnormality iris morphology0BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformation2
HP:0000525HP:0000525Abnormality iris morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome13
HP:0000525HP:0000525Abnormality iris morphology0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0000525HP:0000525Abnormality iris morphology0C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0000525HP:0000525Abnormality iris morphology0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0000525HP:0000525Abnormality iris morphology0CBY1 CL E G H257761307ORPHA:475Joubert syndrome1
HP:0000525HP:0000525Abnormality iris morphology0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0000525HP:0000525Abnormality iris morphology0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defect247
HP:0000525HP:0000525Abnormality iris morphology0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0000525HP:0000525Abnormality iris morphology0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0000525HP:0000525Abnormality iris morphology0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1636
HP:0000525HP:0000525Abnormality iris morphology0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0000525HP:0000525Abnormality iris morphology0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0000525HP:0000525Abnormality iris morphology0CEP104 CL E G H973124866ORPHA:475Joubert syndrome5
HP:0000525HP:0000525Abnormality iris morphology0CEP120 CL E G H15324126690ORPHA:475Joubert syndrome7
HP:0000525HP:0000525Abnormality iris morphology0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defect7
HP:0000525HP:0000525Abnormality iris morphology0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defect342
HP:0000525HP:0000525Abnormality iris morphology0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0000525HP:0000525Abnormality iris morphology0CEP41 CL E G H9568112370ORPHA:475Joubert syndrome90
HP:0000525HP:0000525Abnormality iris morphology0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defect90
HP:0000525HP:0000525Abnormality iris morphology0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 39
HP:0000525HP:0000525Abnormality iris morphology0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000525HP:0000525Abnormality iris morphology0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000525HP:0000525Abnormality iris morphology0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0000525HP:0000525Abnormality iris morphology0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0000525HP:0000525Abnormality iris morphology0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 115
HP:0000525HP:0000525Abnormality iris morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 360
HP:0000525HP:0000525Abnormality iris morphology0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000525HP:0000525Abnormality iris morphology0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000525HP:0000525Abnormality iris morphology0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0000525HP:0000525Abnormality iris morphology0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0000525HP:0000525Abnormality iris morphology0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophy3
HP:0000525HP:0000525Abnormality iris morphology0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0000525HP:0000525Abnormality iris morphology0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0000525HP:0000525Abnormality iris morphology0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0000525HP:0000525Abnormality iris morphology0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndrome
HP:0000525HP:0000525Abnormality iris morphology0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000525HP:0000525Abnormality iris morphology0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0000525HP:0000525Abnormality iris morphology0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0000525HP:0000525Abnormality iris morphology0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types33
HP:0000525HP:0000525Abnormality iris morphology0CRYAA CL E G H14092388ORPHA:1377Cataract-microcornea syndrome33
HP:0000525HP:0000525Abnormality iris morphology0CRYBA4 CL E G H14132396ORPHA:1377Cataract-microcornea syndrome10
HP:0000525HP:0000525Abnormality iris morphology0CRYBB1 CL E G H14142397ORPHA:1377Cataract-microcornea syndrome18
HP:0000525HP:0000525Abnormality iris morphology0CRYBB2 CL E G H14152398ORPHA:1377Cataract-microcornea syndrome13
HP:0000525HP:0000525Abnormality iris morphology0CRYGC CL E G H14202410ORPHA:1377Cataract-microcornea syndrome11
HP:0000525HP:0000525Abnormality iris morphology0CRYGD CL E G H14212411ORPHA:1377Cataract-microcornea syndrome29
HP:0000525HP:0000525Abnormality iris morphology0CSPP1 CL E G H7984826193ORPHA:475Joubert syndrome57
HP:0000525HP:0000525Abnormality iris morphology0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0000525HP:0000525Abnormality iris morphology0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000525HP:0000525Abnormality iris morphology0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000525HP:0000525Abnormality iris morphology0CYP1B1 CL E G H15452597ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent101
HP:0000525HP:0000525Abnormality iris morphology0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanoma1
HP:0000525HP:0000525Abnormality iris morphology0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0000525HP:0000525Abnormality iris morphology0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0000525HP:0000525Abnormality iris morphology0DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000525HP:0000525Abnormality iris morphology0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000525HP:0000525Abnormality iris morphology0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000525HP:0000525Abnormality iris morphology0DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0000525HP:0000525Abnormality iris morphology0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0000525HP:0000525Abnormality iris morphology0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0000525HP:0000525Abnormality iris morphology0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0000525HP:0000525Abnormality iris morphology0DLX5 CL E G H17492918ORPHA:2440Isolated split hand-split foot malformation3
HP:0000525HP:0000525Abnormality iris morphology0DLX6 CL E G H17502919ORPHA:2440Isolated split hand-split foot malformation
HP:0000525HP:0000525Abnormality iris morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0DTNBP1 CL E G H8406217328OMIM:614076Hermansky-Pudlak syndrome 746
HP:0000525HP:0000525Abnormality iris morphology0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0000525HP:0000525Abnormality iris morphology0EDN3 CL E G H19083178OMIM:613265Waardenburg syndrome, type 4B67
HP:0000525HP:0000525Abnormality iris morphology0EDNRB CL E G H19103180ORPHA:895Waardenburg syndrome type 255
HP:0000525HP:0000525Abnormality iris morphology0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0000525HP:0000525Abnormality iris morphology0EFEMP1 CL E G H22023218ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent54
HP:0000525HP:0000525Abnormality iris morphology0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent172
HP:0000525HP:0000525Abnormality iris morphology0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000525HP:0000525Abnormality iris morphology0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000525HP:0000525Abnormality iris morphology0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomia133
HP:0000525HP:0000525Abnormality iris morphology0ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0000525HP:0000525Abnormality iris morphology0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0000525HP:0000525Abnormality iris morphology0EPS15L1 CL E G H5851324634ORPHA:2440Isolated split hand-split foot malformation
HP:0000525HP:0000525Abnormality iris morphology0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0000525HP:0000525Abnormality iris morphology0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0000525HP:0000525Abnormality iris morphology0ERF CL E G H20773444ORPHA:207Crouzon disease12
HP:0000525HP:0000525Abnormality iris morphology0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 133
HP:0000525HP:0000525Abnormality iris morphology0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0000525HP:0000525Abnormality iris morphology0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0000525HP:0000525Abnormality iris morphology0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0000525HP:0000525Abnormality iris morphology0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0000525HP:0000525Abnormality iris morphology0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0000525HP:0000525Abnormality iris morphology0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0000525HP:0000525Abnormality iris morphology0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0000525HP:0000525Abnormality iris morphology0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0000525HP:0000525Abnormality iris morphology0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0000525HP:0000525Abnormality iris morphology0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0000525HP:0000525Abnormality iris morphology0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0000525HP:0000525Abnormality iris morphology0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent1361
HP:0000525HP:0000525Abnormality iris morphology0FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentis1361
HP:0000525HP:0000525Abnormality iris morphology0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000525HP:0000525Abnormality iris morphology0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0000525HP:0000525Abnormality iris morphology0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0000525HP:0000525Abnormality iris morphology0FBXW4 CL E G H646810847ORPHA:2440Isolated split hand-split foot malformation37
HP:0000525HP:0000525Abnormality iris morphology0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0000525HP:0000525Abnormality iris morphology0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0000525HP:0000525Abnormality iris morphology0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0000525HP:0000525Abnormality iris morphology0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosis172
HP:0000525HP:0000525Abnormality iris morphology0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0000525HP:0000525Abnormality iris morphology0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0000525HP:0000525Abnormality iris morphology0FGFR2 CL E G H22633689ORPHA:207Crouzon disease175
HP:0000525HP:0000525Abnormality iris morphology0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000525HP:0000525Abnormality iris morphology0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0000525HP:0000525Abnormality iris morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0000525HP:0000525Abnormality iris morphology0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0000525HP:0000525Abnormality iris morphology0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0000525HP:0000525Abnormality iris morphology0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0000525HP:0000525Abnormality iris morphology0FLNA CL E G H23163754OMIM:300244Terminal osseous dysplasia493
HP:0000525HP:0000525Abnormality iris morphology0FLNA CL E G H23163754ORPHA:88630Terminal osseous dysplasia-pigmentary defects syndrome493
HP:0000525HP:0000525Abnormality iris morphology0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0000525HP:0000525Abnormality iris morphology0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0000525HP:0000525Abnormality iris morphology0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0000525HP:0000525Abnormality iris morphology0FOXC1 CL E G H22963800ORPHA:250923Isolated aniridia63
HP:0000525HP:0000525Abnormality iris morphology0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0000525HP:0000525Abnormality iris morphology0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent23
HP:0000525HP:0000525Abnormality iris morphology0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0000525HP:0000525Abnormality iris morphology0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000525HP:0000525Abnormality iris morphology0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0000525HP:0000525Abnormality iris morphology0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0000525HP:0000525Abnormality iris morphology0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0000525HP:0000525Abnormality iris morphology0GDF3 CL E G H95734218OMIM:613702Klippel-Feil syndrome 3, autosomal dominant7
HP:0000525HP:0000525Abnormality iris morphology0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0000525HP:0000525Abnormality iris morphology0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0000525HP:0000525Abnormality iris morphology0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0000525HP:0000525Abnormality iris morphology0GJA8 CL E G H27034281ORPHA:1377Cataract-microcornea syndrome34
HP:0000525HP:0000525Abnormality iris morphology0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0000525HP:0000525Abnormality iris morphology0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0000525HP:0000525Abnormality iris morphology0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0000525HP:0000525Abnormality iris morphology0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0000525HP:0000525Abnormality iris morphology0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenita16
HP:0000525HP:0000525Abnormality iris morphology0GNA11 CL E G H27674379ORPHA:39044Uveal melanoma16
HP:0000525HP:0000525Abnormality iris morphology0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0000525HP:0000525Abnormality iris morphology0GNAQ CL E G H27764390ORPHA:39044Uveal melanoma7
HP:0000525HP:0000525Abnormality iris morphology0GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0000525HP:0000525Abnormality iris morphology0GPR143 CL E G H493520145OMIM:300500Albinism, ocular, type I64
HP:0000525HP:0000525Abnormality iris morphology0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinism64
HP:0000525HP:0000525Abnormality iris morphology0GRHL2 CL E G H799772799OMIM:618031Corneal dystrophy, posterior polymorphous, 433
HP:0000525HP:0000525Abnormality iris morphology0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophy33
HP:0000525HP:0000525Abnormality iris morphology0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000525HP:0000525Abnormality iris morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000525HP:0000525Abnormality iris morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000525HP:0000525Abnormality iris morphology0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia
HP:0000525HP:0000525Abnormality iris morphology0H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0000525HP:0000525Abnormality iris morphology0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3
HP:0000525HP:0000525Abnormality iris morphology0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0000525HP:0000525Abnormality iris morphology0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0000525HP:0000525Abnormality iris morphology0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000525HP:0000525Abnormality iris morphology0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent
HP:0000525HP:0000525Abnormality iris morphology0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0000525HP:0000525Abnormality iris morphology0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0000525HP:0000525Abnormality iris morphology0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000525HP:0000525Abnormality iris morphology0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1121
HP:0000525HP:0000525Abnormality iris morphology0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0000525HP:0000525Abnormality iris morphology0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0000525HP:0000525Abnormality iris morphology0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0000525HP:0000525Abnormality iris morphology0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0000525HP:0000525Abnormality iris morphology0HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0000525HP:0000525Abnormality iris morphology0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000525HP:0000525Abnormality iris morphology0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0000525HP:0000525Abnormality iris morphology0HYLS1 CL E G H21984426558ORPHA:475Joubert syndrome31
HP:0000525HP:0000525Abnormality iris morphology0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome5
HP:0000525HP:0000525Abnormality iris morphology0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000525HP:0000525Abnormality iris morphology0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0000525HP:0000525Abnormality iris morphology0IMPG1 CL E G H36176055ORPHA:99000Adult-onset foveomacular vitelliform dystrophy4
HP:0000525HP:0000525Abnormality iris morphology0IMPG2 CL E G H5093918362ORPHA:99000Adult-onset foveomacular vitelliform dystrophy120
HP:0000525HP:0000525Abnormality iris morphology0INPP5E CL E G H5662321474ORPHA:475Joubert syndrome111
HP:0000525HP:0000525Abnormality iris morphology0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0000525HP:0000525Abnormality iris morphology0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defect111
HP:0000525HP:0000525Abnormality iris morphology0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000525HP:0000525Abnormality iris morphology0ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome177
HP:0000525HP:0000525Abnormality iris morphology0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0000525HP:0000525Abnormality iris morphology0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000525HP:0000525Abnormality iris morphology0KATNIP CL E G H2324729068ORPHA:475Joubert syndrome
HP:0000525HP:0000525Abnormality iris morphology0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0000525HP:0000525Abnormality iris morphology0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0000525HP:0000525Abnormality iris morphology0KIAA0586 CL E G H978619960ORPHA:475Joubert syndrome24
HP:0000525HP:0000525Abnormality iris morphology0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0000525HP:0000525Abnormality iris morphology0KIFBP CL E G H2612823419ORPHA:66629Goldberg-Shprintzen megacolon syndrome
HP:0000525HP:0000525Abnormality iris morphology0KIT CL E G H38156342OMIM:172800Piebald trait327
HP:0000525HP:0000525Abnormality iris morphology0KIT CL E G H38156342ORPHA:2884Piebaldism327
HP:0000525HP:0000525Abnormality iris morphology0KITLG CL E G H42546343OMIM:6199479
HP:0000525HP:0000525Abnormality iris morphology0KITLG CL E G H42546343ORPHA:895Waardenburg syndrome type 29
HP:0000525HP:0000525Abnormality iris morphology0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosis196
HP:0000525HP:0000525Abnormality iris morphology0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0000525HP:0000525Abnormality iris morphology0KRT25 CL E G H14718330839ORPHA:170Woolly hair2
HP:0000525HP:0000525Abnormality iris morphology0KRT71 CL E G H11280228927ORPHA:170Woolly hair1
HP:0000525HP:0000525Abnormality iris morphology0KRT74 CL E G H12139128929ORPHA:170Woolly hair5
HP:0000525HP:0000525Abnormality iris morphology0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000525HP:0000525Abnormality iris morphology0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0000525HP:0000525Abnormality iris morphology0LDHD CL E G H19725719708OMIM:245450LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0000525HP:0000525Abnormality iris morphology0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000525HP:0000525Abnormality iris morphology0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0000525HP:0000525Abnormality iris morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0LIPH CL E G H20087918483ORPHA:170Woolly hair12
HP:0000525HP:0000525Abnormality iris morphology0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0000525HP:0000525Abnormality iris morphology0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndrome165
HP:0000525HP:0000525Abnormality iris morphology0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent6
HP:0000525HP:0000525Abnormality iris morphology0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome3
HP:0000525HP:0000525Abnormality iris morphology0LPAR6 CL E G H1016115520ORPHA:170Woolly hair8
HP:0000525HP:0000525Abnormality iris morphology0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndrome289
HP:0000525HP:0000525Abnormality iris morphology0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000525HP:0000525Abnormality iris morphology0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome125
HP:0000525HP:0000525Abnormality iris morphology0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma123
HP:0000525HP:0000525Abnormality iris morphology0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0000525HP:0000525Abnormality iris morphology0LYST CL E G H11301968ORPHA:352723Attenuated Chédiak-Higashi syndrome239
HP:0000525HP:0000525Abnormality iris morphology0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0000525HP:0000525Abnormality iris morphology0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0000525HP:0000525Abnormality iris morphology0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0000525HP:0000525Abnormality iris morphology0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0000525HP:0000525Abnormality iris morphology0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0000525HP:0000525Abnormality iris morphology0MAF CL E G H40946776ORPHA:1377Cataract-microcornea syndrome21
HP:0000525HP:0000525Abnormality iris morphology0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0000525HP:0000525Abnormality iris morphology0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000525HP:0000525Abnormality iris morphology0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutation63
HP:0000525HP:0000525Abnormality iris morphology0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0000525HP:0000525Abnormality iris morphology0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0000525HP:0000525Abnormality iris morphology0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0000525HP:0000525Abnormality iris morphology0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000525HP:0000525Abnormality iris morphology0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent13
HP:0000525HP:0000525Abnormality iris morphology0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0000525HP:0000525Abnormality iris morphology0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0000525HP:0000525Abnormality iris morphology0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0000525HP:0000525Abnormality iris morphology0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0000525HP:0000525Abnormality iris morphology0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0000525HP:0000525Abnormality iris morphology0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000525HP:0000525Abnormality iris morphology0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000525HP:0000525Abnormality iris morphology0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent11
HP:0000525HP:0000525Abnormality iris morphology0MIR184 CL E G H40696031555OMIM:614303Edict syndrome1
HP:0000525HP:0000525Abnormality iris morphology0MIR204 CL E G H40698731582OMIM:616722Retinal dystrophy and iris coloboma with or without congenital cataract1
HP:0000525HP:0000525Abnormality iris morphology0MITF CL E G H42867105OMIM:103500Tietz syndrome91
HP:0000525HP:0000525Abnormality iris morphology0MITF CL E G H42867105ORPHA:895Waardenburg syndrome type 291
HP:0000525HP:0000525Abnormality iris morphology0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0000525HP:0000525Abnormality iris morphology0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000525HP:0000525Abnormality iris morphology0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000525HP:0000525Abnormality iris morphology0MKS1 CL E G H549037121ORPHA:475Joubert syndrome127
HP:0000525HP:0000525Abnormality iris morphology0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defect127
HP:0000525HP:0000525Abnormality iris morphology0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0000525HP:0000525Abnormality iris morphology0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0000525HP:0000525Abnormality iris morphology0MLPH CL E G H7908329643ORPHA:79478Griscelli syndrome type 37
HP:0000525HP:0000525Abnormality iris morphology0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000525HP:0000525Abnormality iris morphology0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000525HP:0000525Abnormality iris morphology0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum2
HP:0000525HP:0000525Abnormality iris morphology0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum64
HP:0000525HP:0000525Abnormality iris morphology0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0000525HP:0000525Abnormality iris morphology0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies29
HP:0000525HP:0000525Abnormality iris morphology0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1B134
HP:0000525HP:0000525Abnormality iris morphology0MSH6 CL E G H29567329OMIM:619097MISMATCH REPAIR CANCER SYNDROME 3; MMRCS32232
HP:0000525HP:0000525Abnormality iris morphology0MTSS2 CL E G H9215425094OMIM:620086
HP:0000525HP:0000525Abnormality iris morphology0MYH11 CL E G H46297569OMIM:132900Aortic aneurysm, familial thoracic 4418
HP:0000525HP:0000525Abnormality iris morphology0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent418
HP:0000525HP:0000525Abnormality iris morphology0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent326
HP:0000525HP:0000525Abnormality iris morphology0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 135
HP:0000525HP:0000525Abnormality iris morphology0MYO5A CL E G H46447602ORPHA:79478Griscelli syndrome type 335
HP:0000525HP:0000525Abnormality iris morphology0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1516
HP:0000525HP:0000525Abnormality iris morphology0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2516
HP:0000525HP:0000525Abnormality iris morphology0MYOC CL E G H46537610OMIM:137750Glaucoma 1, open angle, A47
HP:0000525HP:0000525Abnormality iris morphology0MYOC CL E G H46537610ORPHA:98977Juvenile glaucomaHP:0040282 - Frequent47
HP:0000525HP:0000525Abnormality iris morphology0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0000525HP:0000525Abnormality iris morphology0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0000525HP:0000525Abnormality iris morphology0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000525HP:0000525Abnormality iris morphology0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutation
HP:0000525HP:0000525Abnormality iris morphology0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000525HP:0000525Abnormality iris morphology0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000525HP:0000525Abnormality iris morphology0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000525HP:0000525Abnormality iris morphology0NDP CL E G H46937678ORPHA:190Coats disease39
HP:0000525HP:0000525Abnormality iris morphology0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0000525HP:0000525Abnormality iris morphology0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0000525HP:0000525Abnormality iris morphology0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000525HP:0000525Abnormality iris morphology0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0000525HP:0000525Abnormality iris morphology0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0000525HP:0000525Abnormality iris morphology0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0000525HP:0000525Abnormality iris morphology0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0000525HP:0000525Abnormality iris morphology0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0000525HP:0000525Abnormality iris morphology0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0000525HP:0000525Abnormality iris morphology0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0000525HP:0000525Abnormality iris morphology0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000525HP:0000525Abnormality iris morphology0NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0000525HP:0000525Abnormality iris morphology0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0000525HP:0000525Abnormality iris morphology0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0000525HP:0000525Abnormality iris morphology0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndrome144
HP:0000525HP:0000525Abnormality iris morphology0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000525HP:0000525Abnormality iris morphology0NPHP1 CL E G H48677905ORPHA:220497Joubert syndrome with renal defect85
HP:0000525HP:0000525Abnormality iris morphology0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0000525HP:0000525Abnormality iris morphology0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0000525HP:0000525Abnormality iris morphology0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000525HP:0000525Abnormality iris morphology0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0000525HP:0000525Abnormality iris morphology0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0000525HP:0000525Abnormality iris morphology0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0000525HP:0000525Abnormality iris morphology0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0000525HP:0000525Abnormality iris morphology0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0000525HP:0000525Abnormality iris morphology0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0000525HP:0000525Abnormality iris morphology0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0000525HP:0000525Abnormality iris morphology0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000525HP:0000525Abnormality iris morphology0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophy4
HP:0000525HP:0000525Abnormality iris morphology0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0000525HP:0000525Abnormality iris morphology0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0000525HP:0000525Abnormality iris morphology0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0000525HP:0000525Abnormality iris morphology0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0000525HP:0000525Abnormality iris morphology0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000525HP:0000525Abnormality iris morphology0PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome194
HP:0000525HP:0000525Abnormality iris morphology0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0000525HP:0000525Abnormality iris morphology0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0000525HP:0000525Abnormality iris morphology0PAX6 CL E G H50808620ORPHA:250923Isolated aniridia194
HP:0000525HP:0000525Abnormality iris morphology0PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasia194
HP:0000525HP:0000525Abnormality iris morphology0PAX6 CL E G H50808620ORPHA:893WAGR syndrome194
HP:0000525HP:0000525Abnormality iris morphology0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome194
HP:0000525HP:0000525Abnormality iris morphology0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1352
HP:0000525HP:0000525Abnormality iris morphology0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome11
HP:0000525HP:0000525Abnormality iris morphology0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance113
HP:0000525HP:0000525Abnormality iris morphology0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0000525HP:0000525Abnormality iris morphology0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0000525HP:0000525Abnormality iris morphology0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 240
HP:0000525HP:0000525Abnormality iris morphology0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0000525HP:0000525Abnormality iris morphology0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0000525HP:0000525Abnormality iris morphology0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0000525HP:0000525Abnormality iris morphology0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0000525HP:0000525Abnormality iris morphology0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0000525HP:0000525Abnormality iris morphology0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0000525HP:0000525Abnormality iris morphology0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0000525HP:0000525Abnormality iris morphology0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0000525HP:0000525Abnormality iris morphology0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0000525HP:0000525Abnormality iris morphology0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger)82
HP:0000525HP:0000525Abnormality iris morphology0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0000525HP:0000525Abnormality iris morphology0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0000525HP:0000525Abnormality iris morphology0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0000525HP:0000525Abnormality iris morphology0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0000525HP:0000525Abnormality iris morphology0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0000525HP:0000525Abnormality iris morphology0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0000525HP:0000525Abnormality iris morphology0PHOX2B CL E G H89299143ORPHA:2151Hirschsprung disease-ganglioneuroblastoma syndrome86
HP:0000525HP:0000525Abnormality iris morphology0PIBF1 CL E G H1046423352ORPHA:475Joubert syndrome4
HP:0000525HP:0000525Abnormality iris morphology0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0000525HP:0000525Abnormality iris morphology0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0000525HP:0000525Abnormality iris morphology0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0000525HP:0000525Abnormality iris morphology0PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0000525HP:0000525Abnormality iris morphology0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0000525HP:0000525Abnormality iris morphology0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0000525HP:0000525Abnormality iris morphology0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0000525HP:0000525Abnormality iris morphology0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndrome103
HP:0000525HP:0000525Abnormality iris morphology0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0000525HP:0000525Abnormality iris morphology0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0000525HP:0000525Abnormality iris morphology0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000525HP:0000525Abnormality iris morphology0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0000525HP:0000525Abnormality iris morphology0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0000525HP:0000525Abnormality iris morphology0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0000525HP:0000525Abnormality iris morphology0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0000525HP:0000525Abnormality iris morphology0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndrome180
HP:0000525HP:0000525Abnormality iris morphology0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndrome33
HP:0000525HP:0000525Abnormality iris morphology0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0000525HP:0000525Abnormality iris morphology0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndrome18
HP:0000525HP:0000525Abnormality iris morphology0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0000525HP:0000525Abnormality iris morphology0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndrome213
HP:0000525HP:0000525Abnormality iris morphology0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0000525HP:0000525Abnormality iris morphology0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000525HP:0000525Abnormality iris morphology0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndrome221
HP:0000525HP:0000525Abnormality iris morphology0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0000525HP:0000525Abnormality iris morphology0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0000525HP:0000525Abnormality iris morphology0POU6F2 CL E G H1128121694ORPHA:654Nephroblastoma2
HP:0000525HP:0000525Abnormality iris morphology0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0000525HP:0000525Abnormality iris morphology0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0000525HP:0000525Abnormality iris morphology0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0000525HP:0000525Abnormality iris morphology0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0000525HP:0000525Abnormality iris morphology0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent41
HP:0000525HP:0000525Abnormality iris morphology0PRPH2 CL E G H59619942ORPHA:99000Adult-onset foveomacular vitelliform dystrophy159
HP:0000525HP:0000525Abnormality iris morphology0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000525HP:0000525Abnormality iris morphology0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000525HP:0000525Abnormality iris morphology0PTCH1 CL E G H57279585ORPHA:377Gorlin syndrome665
HP:0000525HP:0000525Abnormality iris morphology0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0000525HP:0000525Abnormality iris morphology0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0000525HP:0000525Abnormality iris morphology0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000525HP:0000525Abnormality iris morphology0PTCH2 CL E G H86439586ORPHA:377Gorlin syndrome40
HP:0000525HP:0000525Abnormality iris morphology0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000525HP:0000525Abnormality iris morphology0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0000525HP:0000525Abnormality iris morphology0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0000525HP:0000525Abnormality iris morphology0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000525HP:0000525Abnormality iris morphology0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000525HP:0000525Abnormality iris morphology0RAB27A CL E G H58739766ORPHA:79477Griscelli syndrome type 267
HP:0000525HP:0000525Abnormality iris morphology0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0000525HP:0000525Abnormality iris morphology0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0000525HP:0000525Abnormality iris morphology0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0000525HP:0000525Abnormality iris morphology0RB1 CL E G H59259884OMIM:180200RETINOBLASTOMA365
HP:0000525HP:0000525Abnormality iris morphology0RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 108
HP:0000525HP:0000525Abnormality iris morphology0RBP4 CL E G H59509922OMIM:615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome8
HP:0000525HP:0000525Abnormality iris morphology0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0000525HP:0000525Abnormality iris morphology0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0000525HP:0000525Abnormality iris morphology0REST CL E G H59789966ORPHA:654Nephroblastoma7
HP:0000525HP:0000525Abnormality iris morphology0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0000525HP:0000525Abnormality iris morphology0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0000525HP:0000525Abnormality iris morphology0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000525HP:0000525Abnormality iris morphology0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0000525HP:0000525Abnormality iris morphology0ROR1 CL E G H491910256OMIM:617654Deafness, autosomal recessive 1081
HP:0000525HP:0000525Abnormality iris morphology0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0000525HP:0000525Abnormality iris morphology0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0000525HP:0000525Abnormality iris morphology0RPGRIP1L CL E G H2332229168ORPHA:220497Joubert syndrome with renal defect167
HP:0000525HP:0000525Abnormality iris morphology0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0000525HP:0000525Abnormality iris morphology0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0000525HP:0000525Abnormality iris morphology0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndrome
HP:0000525HP:0000525Abnormality iris morphology0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0000525HP:0000525Abnormality iris morphology0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000525HP:0000525Abnormality iris morphology0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0000525HP:0000525Abnormality iris morphology0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0000525HP:0000525Abnormality iris morphology0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0000525HP:0000525Abnormality iris morphology0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0000525HP:0000525Abnormality iris morphology0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0000525HP:0000525Abnormality iris morphology0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0000525HP:0000525Abnormality iris morphology0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0000525HP:0000525Abnormality iris morphology0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0000525HP:0000525Abnormality iris morphology0SEM1 CL E G H797910845ORPHA:2440Isolated split hand-split foot malformation
HP:0000525HP:0000525Abnormality iris morphology0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000525HP:0000525Abnormality iris morphology0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanoma19
HP:0000525HP:0000525Abnormality iris morphology0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0000525HP:0000525Abnormality iris morphology0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0000525HP:0000525Abnormality iris morphology0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0000525HP:0000525Abnormality iris morphology0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000525HP:0000525Abnormality iris morphology0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0000525HP:0000525Abnormality iris morphology0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0000525HP:0000525Abnormality iris morphology0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy20
HP:0000525HP:0000525Abnormality iris morphology0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0000525HP:0000525Abnormality iris morphology0SLC24A5 CL E G H28365220611ORPHA:370097Oculocutaneous albinism type 612
HP:0000525HP:0000525Abnormality iris morphology0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0000525HP:0000525Abnormality iris morphology0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0000525HP:0000525Abnormality iris morphology0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0000525HP:0000525Abnormality iris morphology0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0000525HP:0000525Abnormality iris morphology0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent7
HP:0000525HP:0000525Abnormality iris morphology0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent260
HP:0000525HP:0000525Abnormality iris morphology0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent504
HP:0000525HP:0000525Abnormality iris morphology0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome174
HP:0000525HP:0000525Abnormality iris morphology0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0000525HP:0000525Abnormality iris morphology0SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0000525HP:0000525Abnormality iris morphology0SNAI2 CL E G H659111094OMIM:172800Piebald trait19
HP:0000525HP:0000525Abnormality iris morphology0SNAI2 CL E G H659111094ORPHA:2884Piebaldism19
HP:0000525HP:0000525Abnormality iris morphology0SNAI2 CL E G H659111094ORPHA:895Waardenburg syndrome type 219
HP:0000525HP:0000525Abnormality iris morphology0SNAI2 CL E G H659111094OMIM:608890Waardenburg syndrome, type 2D19
HP:0000525HP:0000525Abnormality iris morphology0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000525HP:0000525Abnormality iris morphology0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000525HP:0000525Abnormality iris morphology0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0000525HP:0000525Abnormality iris morphology0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q1337
HP:0000525HP:0000525Abnormality iris morphology0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutation37
HP:0000525HP:0000525Abnormality iris morphology0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0000525HP:0000525Abnormality iris morphology0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0000525HP:0000525Abnormality iris morphology0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0000525HP:0000525Abnormality iris morphology0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000525HP:0000525Abnormality iris morphology0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000525HP:0000525Abnormality iris morphology0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0000525HP:0000525Abnormality iris morphology0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease61
HP:0000525HP:0000525Abnormality iris morphology0SOX10 CL E G H666311190ORPHA:895Waardenburg syndrome type 261
HP:0000525HP:0000525Abnormality iris morphology0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0000525HP:0000525Abnormality iris morphology0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C61
HP:0000525HP:0000525Abnormality iris morphology0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome33
HP:0000525HP:0000525Abnormality iris morphology0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0000525HP:0000525Abnormality iris morphology0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000525HP:0000525Abnormality iris morphology0SRD5A3 CL E G H7964425812OMIM:612713Kahrizi syndrome80
HP:0000525HP:0000525Abnormality iris morphology0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0000525HP:0000525Abnormality iris morphology0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 131
HP:0000525HP:0000525Abnormality iris morphology0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000525HP:0000525Abnormality iris morphology0SUFU CL E G H5168416466ORPHA:377Gorlin syndrome124
HP:0000525HP:0000525Abnormality iris morphology0SUFU CL E G H5168416466ORPHA:475Joubert syndrome124
HP:0000525HP:0000525Abnormality iris morphology0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0000525HP:0000525Abnormality iris morphology0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0000525HP:0000525Abnormality iris morphology0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000525HP:0000525Abnormality iris morphology0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndrome28
HP:0000525HP:0000525Abnormality iris morphology0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0000525HP:0000525Abnormality iris morphology0TCTN1 CL E G H7960026113ORPHA:475Joubert syndrome45
HP:0000525HP:0000525Abnormality iris morphology0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0000525HP:0000525Abnormality iris morphology0TCTN2 CL E G H7986725774ORPHA:475Joubert syndrome76
HP:0000525HP:0000525Abnormality iris morphology0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0000525HP:0000525Abnormality iris morphology0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0000525HP:0000525Abnormality iris morphology0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0000525HP:0000525Abnormality iris morphology0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 912
HP:0000525HP:0000525Abnormality iris morphology0TFAP2A CL E G H702011742ORPHA:1297Branchio-oculo-facial syndrome12
HP:0000525HP:0000525Abnormality iris morphology0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000525HP:0000525Abnormality iris morphology0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent162
HP:0000525HP:0000525Abnormality iris morphology0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent85
HP:0000525HP:0000525Abnormality iris morphology0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent239
HP:0000525HP:0000525Abnormality iris morphology0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040282 - Frequent253
HP:0000525HP:0000525Abnormality iris morphology0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0000525HP:0000525Abnormality iris morphology0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome60
HP:0000525HP:0000525Abnormality iris morphology0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0000525HP:0000525Abnormality iris morphology0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0000525HP:0000525Abnormality iris morphology0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defect39
HP:0000525HP:0000525Abnormality iris morphology0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defect45
HP:0000525HP:0000525Abnormality iris morphology0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0000525HP:0000525Abnormality iris morphology0TMEM218 CL E G H21985427344ORPHA:475Joubert syndrome
HP:0000525HP:0000525Abnormality iris morphology0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defect33
HP:0000525HP:0000525Abnormality iris morphology0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0000525HP:0000525Abnormality iris morphology0TMEM237 CL E G H6506214432ORPHA:475Joubert syndrome82
HP:0000525HP:0000525Abnormality iris morphology0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defect82
HP:0000525HP:0000525Abnormality iris morphology0TMEM237 CL E G H6506214432ORPHA:220497Joubert syndrome with renal defect82
HP:0000525HP:0000525Abnormality iris morphology0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0000525HP:0000525Abnormality iris morphology0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0TMEM67 CL E G H9114728396ORPHA:475Joubert syndrome166
HP:0000525HP:0000525Abnormality iris morphology0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0000525HP:0000525Abnormality iris morphology0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0000525HP:0000525Abnormality iris morphology0TMEM67 CL E G H9114728396OMIM:613550NEPHRONOPHTHISIS 11; NPHP11166
HP:0000525HP:0000525Abnormality iris morphology0TOGARAM1 CL E G H2311619959ORPHA:475Joubert syndrome
HP:0000525HP:0000525Abnormality iris morphology0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0000525HP:0000525Abnormality iris morphology0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0000525HP:0000525Abnormality iris morphology0TP63 CL E G H862615979ORPHA:2440Isolated split hand-split foot malformation140
HP:0000525HP:0000525Abnormality iris morphology0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0000525HP:0000525Abnormality iris morphology0TRIM28 CL E G H1015516384ORPHA:654Nephroblastoma2
HP:0000525HP:0000525Abnormality iris morphology0TRIM37 CL E G H45917523OMIM:253250Mulibrey nanism78
HP:0000525HP:0000525Abnormality iris morphology0TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridia1
HP:0000525HP:0000525Abnormality iris morphology0TRIP13 CL E G H931912307ORPHA:654Nephroblastoma2
HP:0000525HP:0000525Abnormality iris morphology0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3
HP:0000525HP:0000525Abnormality iris morphology0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0000525HP:0000525Abnormality iris morphology0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0000525HP:0000525Abnormality iris morphology0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0000525HP:0000525Abnormality iris morphology0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0000525HP:0000525Abnormality iris morphology0TYR CL E G H729912442ORPHA:895Waardenburg syndrome type 2146
HP:0000525HP:0000525Abnormality iris morphology0TYRP1 CL E G H730612450ORPHA:79433Oculocutaneous albinism type 362
HP:0000525HP:0000525Abnormality iris morphology0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0000525HP:0000525Abnormality iris morphology0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0000525HP:0000525Abnormality iris morphology0UBE3A CL E G H733712496ORPHA:411511Angelman syndrome due to a point mutation278
HP:0000525HP:0000525Abnormality iris morphology0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13278
HP:0000525HP:0000525Abnormality iris morphology0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion278
HP:0000525HP:0000525Abnormality iris morphology0UBE3A CL E G H733712496ORPHA:98795Angelman syndrome due to paternal uniparental disomy of chromosome 15278
HP:0000525HP:0000525Abnormality iris morphology0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0000525HP:0000525Abnormality iris morphology0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1173
HP:0000525HP:0000525Abnormality iris morphology0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 178
HP:0000525HP:0000525Abnormality iris morphology0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2777
HP:0000525HP:0000525Abnormality iris morphology0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0000525HP:0000525Abnormality iris morphology0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0000525HP:0000525Abnormality iris morphology0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000525HP:0000525Abnormality iris morphology0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0000525HP:0000525Abnormality iris morphology0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophy47
HP:0000525HP:0000525Abnormality iris morphology0VSX2 CL E G H3389171975OMIM:610092MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB366
HP:0000525HP:0000525Abnormality iris morphology0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0000525HP:0000525Abnormality iris morphology0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0000525HP:0000525Abnormality iris morphology0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2155
HP:0000525HP:0000525Abnormality iris morphology0WNT10B CL E G H748012775ORPHA:2440Isolated split hand-split foot malformation4
HP:0000525HP:0000525Abnormality iris morphology0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0000525HP:0000525Abnormality iris morphology0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000525HP:0000525Abnormality iris morphology0WT1 CL E G H749012796ORPHA:654Nephroblastoma177
HP:0000525HP:0000525Abnormality iris morphology0WT1 CL E G H749012796ORPHA:893WAGR syndrome177
HP:0000525HP:0000525Abnormality iris morphology0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome177
HP:0000525HP:0000525Abnormality iris morphology0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0000525HP:0000525Abnormality iris morphology0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndrome5
HP:0000525HP:0000525Abnormality iris morphology0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability2
HP:0000525HP:0000525Abnormality iris morphology0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophy8
HP:0000525HP:0000525Abnormality iris morphology0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000525HP:0000525Abnormality iris morphology0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0000525HP:0000525Abnormality iris morphology0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0000525HP:0000525Abnormality iris morphology0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0000525HP:0000525Abnormality iris morphology0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defect49
HP:0000525HP:0011525Iris nevus1 CL E G H
HP:0000525HP:0000615Abnormal pupil morphology1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000525HP:0000612Iris coloboma1AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0000525HP:0500007Iris flocculi1ACTA2 CL E G H59130OMIM:611788AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT694
HP:0000525HP:0000612Iris coloboma1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0000525HP:0008034Abnormal iris pigmentation1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0000525HP:0000612Iris coloboma1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0000525HP:0008034Abnormal iris pigmentation1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0000525HP:0000612Iris coloboma1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0000525HP:0100693Iridodonesis1ADAMTS17 CL E G H17069117109OMIM:613195Weill-Marchesani syndrome 4.214
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000525HP:0000615Abnormal pupil morphology1ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillae84
HP:0000525HP:0000615Abnormal pupil morphology1ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentis84
HP:0000525HP:0008034Abnormal iris pigmentation1ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2530
HP:0000525HP:0000612Iris coloboma1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0000525HP:0000612Iris coloboma1AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040283 - Occasional175
HP:0000525HP:0000612Iris coloboma1AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional175
HP:0000525HP:0008034Abnormal iris pigmentation1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000525HP:0000612Iris coloboma1ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0000525HP:0000612Iris coloboma1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000525HP:0000612Iris coloboma1ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000525HP:0000612Iris coloboma1ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000525HP:0000612Iris coloboma1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0000525HP:0008034Abnormal iris pigmentation1AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0000525HP:0008034Abnormal iris pigmentation1AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0000525HP:0008034Abnormal iris pigmentation1AP3D1 CL E G H8943568ORPHA:1000Ocular albinism with late-onset sensorineural deafness1
HP:0000525HP:0008034Abnormal iris pigmentation1AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0000525HP:0000615Abnormal pupil morphology1AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040281 - Very frequent1
HP:0000525HP:0000612Iris coloboma1ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040283 - Occasional62
HP:0000525HP:0000612Iris coloboma1ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000525HP:0000615Abnormal pupil morphology1ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenita1
HP:0000525HP:0000612Iris coloboma1ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040283 - Occasional
HP:0000525HP:0008034Abnormal iris pigmentation1ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3
HP:0000525HP:0001089Iris atrophy1ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.4
HP:0000525HP:0000615Abnormal pupil morphology1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000525HP:0000615Abnormal pupil morphology1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000525HP:0000612Iris coloboma1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessiveHP:0040283 - Occasional4
HP:0000525HP:0008034Abnormal iris pigmentation1ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0000525HP:0000612Iris coloboma1ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0000525HP:0000612Iris coloboma1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional43
HP:0000525HP:0000612Iris coloboma1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000525HP:0000612Iris coloboma1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000525HP:0000612Iris coloboma1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional17
HP:0000525HP:0000612Iris coloboma1B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040283 - Occasional28
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0000525HP:0000612Iris coloboma1B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040283 - Occasional34
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0000525HP:0011524Iris melanoma1BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040282 - Frequent184
HP:0000525HP:0008034Abnormal iris pigmentation1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000525HP:0008034Abnormal iris pigmentation1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000525HP:0000612Iris coloboma1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000525HP:0000612Iris coloboma1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0000525HP:0000612Iris coloboma1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000525HP:0000612Iris coloboma1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040281 - Very frequent5
HP:0000525HP:0008034Abnormal iris pigmentation1BEST1 CL E G H743912703ORPHA:99000Adult-onset foveomacular vitelliform dystrophy182
HP:0000525HP:0008034Abnormal iris pigmentation1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0000525HP:0008034Abnormal iris pigmentation1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000525HP:0008034Abnormal iris pigmentation1BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 935
HP:0000525HP:0000612Iris coloboma1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040282 - Frequent38
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformation2
HP:0000525HP:0008034Abnormal iris pigmentation1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000525HP:0000612Iris coloboma1C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0000525HP:0000612Iris coloboma1C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040281 - Very frequent13
HP:0000525HP:0001089Iris atrophy1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degenerationHP:0040283 - Occasional20
HP:0000525HP:0008034Abnormal iris pigmentation1C1QTNF5 CL E G H11490214344ORPHA:67042Late-onset retinal degeneration20
HP:0000525HP:0008034Abnormal iris pigmentation1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0000525HP:0000612Iris coloboma1CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040283 - Occasional1
HP:0000525HP:0000612Iris coloboma1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040282 - Frequent247
HP:0000525HP:0000612Iris coloboma1CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0000525HP:0000612Iris coloboma1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000525HP:0008034Abnormal iris pigmentation1CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1636
HP:0000525HP:0000612Iris coloboma1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0000525HP:0000612Iris coloboma1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000525HP:0000612Iris coloboma1CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040283 - Occasional5
HP:0000525HP:0000612Iris coloboma1CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040283 - Occasional7
HP:0000525HP:0000612Iris coloboma1CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional7
HP:0000525HP:0000612Iris coloboma1CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0000525HP:0000612Iris coloboma1CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040283 - Occasional90
HP:0000525HP:0000612Iris coloboma1CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040283 - Occasional90
HP:0000525HP:0008034Abnormal iris pigmentation1CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 39
HP:0000525HP:0000612Iris coloboma1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000525HP:0000612Iris coloboma1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0000525HP:0008034Abnormal iris pigmentation1CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0000525HP:0000615Abnormal pupil morphology1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000525HP:0000612Iris coloboma1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0000525HP:0008034Abnormal iris pigmentation1CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0000525HP:0100693Iridodonesis1CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA.9
HP:0000525HP:0008034Abnormal iris pigmentation1CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 115
HP:0000525HP:0008034Abnormal iris pigmentation1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000525HP:0008034Abnormal iris pigmentation1CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 360
HP:0000525HP:0000615Abnormal pupil morphology1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000525HP:0008034Abnormal iris pigmentation1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000525HP:0000615Abnormal pupil morphology1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0000525HP:0000615Abnormal pupil morphology1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0000525HP:0008053Aplasia/Hypoplasia of the iris1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0000525HP:0000612Iris coloboma1COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040283 - Occasional193
HP:0000525HP:0025358Uveal ectropion1COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional3
HP:0000525HP:0000615Abnormal pupil morphology1COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophy3
HP:0000525HP:0001089Iris atrophy1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0000525HP:0000612Iris coloboma1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0000525HP:0100693Iridodonesis1CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0000525