Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormal uvea morphology (HP:0000553)help
Parent Node:
expand
Aplasia/Hypoplasia affecting the eye (HP:0008056)help
..Starting node
..expand
Aplasia/Hypoplasia affecting the uvea (HP:0008055)help
Term ID: 8055
Name: Aplasia/Hypoplasia affecting the uvea
Synonym: Absent/underdeveloped uvea
Definition: Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.
Comments:
Reference: HP:0008055
Genes and Diseases:
 
       Child Nodes:
........expandHypoplasia of the ciliary body (HP:0007774) help
........expandAplasia/Hypoplasia of the iris (HP:0008053) help
................... HP:0000526 Aniridia
................... HP:0007676 Hypoplasia of the iris

 Sister Nodes: 
..expandAnophthalmia (HP:0000528) help
..expandAplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062) help
..expandAplasia/Hypoplasia affecting the fundus (HP:0008057) help
..expandMicrophthalmia (HP:0000568) 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:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BDNF CL E G H6271033ORPHA:893WAGR syndrome5
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformation2
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0DLX5 CL E G H17492918ORPHA:2440Isolated split hand-split foot malformation3
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0DLX6 CL E G H17502919ORPHA:2440Isolated split hand-split foot malformation
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0EPS15L1 CL E G H5851324634ORPHA:2440Isolated split hand-split foot malformation
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FBXW4 CL E G H646810847ORPHA:2440Isolated split hand-split foot malformation37
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndrome63
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FOXC1 CL E G H22963800ORPHA:250923Isolated aniridia63
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome177
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0LDHD CL E G H19725719708OMIM:245450LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0MIR184 CL E G H40696031555OMIM:614303Edict syndrome1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0NDP CL E G H46937678ORPHA:190Coats disease39
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome194
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX6 CL E G H50808620ORPHA:250923Isolated aniridia194
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasia194
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX6 CL E G H50808620ORPHA:893WAGR syndrome194
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome194
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndrome51
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0POU6F2 CL E G H1128121694ORPHA:654Nephroblastoma2
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0REST CL E G H59789966ORPHA:654Nephroblastoma7
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SEM1 CL E G H797910845ORPHA:2440Isolated split hand-split foot malformation
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TP63 CL E G H862615979ORPHA:2440Isolated split hand-split foot malformation140
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TRIM28 CL E G H1015516384ORPHA:654Nephroblastoma2
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridia1
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TRIP13 CL E G H931912307ORPHA:654Nephroblastoma2
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0WNT10B CL E G H748012775ORPHA:2440Isolated split hand-split foot malformation4
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0WT1 CL E G H749012796ORPHA:654Nephroblastoma177
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0WT1 CL E G H749012796ORPHA:893WAGR syndrome177
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome177
HP:0008055HP:0008055Aplasia/Hypoplasia affecting the uvea0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040281 - Very frequent5
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BRCA2 CL E G H6751101ORPHA:654Nephroblastoma7642
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformation2
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1DIS3L2 CL E G H12956328648ORPHA:654Nephroblastoma164
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1DLX5 CL E G H17492918ORPHA:2440Isolated split hand-split foot malformation3
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1DLX6 CL E G H17502919ORPHA:2440Isolated split hand-split foot malformation
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1EPS15L1 CL E G H5851324634ORPHA:2440Isolated split hand-split foot malformation
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FBXW4 CL E G H646810847ORPHA:2440Isolated split hand-split foot malformation37
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FOXC1 CL E G H22963800ORPHA:782Axenfeld-Rieger syndromeHP:0040281 - Very frequent63
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 363
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FOXC1 CL E G H22963800ORPHA:250923Isolated aniridia63
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1GPC3 CL E G H27194451ORPHA:654Nephroblastoma73
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1H19 CL E G H2831204713ORPHA:654Nephroblastoma4
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome177
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008055HP:0007774Hypoplasia of the ciliary body1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.92
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1LDHD CL E G H19725719708OMIM:245450LACTIC ACIDURIA DUE TO D-LACTIC ACID
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1MIR184 CL E G H40696031555OMIM:614303Edict syndrome1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1NDP CL E G H46937678ORPHA:190Coats diseaseHP:0040283 - Occasional39
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndrome194
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H50808620ORPHA:250923Isolated aniridia194
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasiaHP:0040283 - Occasional194
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H50808620ORPHA:893WAGR syndromeHP:0040281 - Very frequent194
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome194
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PITX2 CL E G H53089005ORPHA:782Axenfeld-Rieger syndromeHP:0040281 - Very frequent51
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1POU6F2 CL E G H1128121694ORPHA:654Nephroblastoma2
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1REST CL E G H59789966ORPHA:654Nephroblastoma7
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SEM1 CL E G H797910845ORPHA:2440Isolated split hand-split foot malformation
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1STIM1 CL E G H678611386OMIM:612783Immunodeficiency 1031
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TP63 CL E G H862615979ORPHA:2440Isolated split hand-split foot malformation140
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TRIM28 CL E G H1015516384ORPHA:654Nephroblastoma2
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridia1
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TRIP13 CL E G H931912307ORPHA:654Nephroblastoma2
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1WNT10B CL E G H748012775ORPHA:2440Isolated split hand-split foot malformation4
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1WT1 CL E G H749012796ORPHA:654Nephroblastoma177
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1WT1 CL E G H749012796ORPHA:893WAGR syndromeHP:0040281 - Very frequent177
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome177
HP:0008055HP:0008053Aplasia/Hypoplasia of the iris1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0008055HP:0007676Hypoplasia of the iris2ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0008055HP:0000526Aniridia2BRCA2 CL E G H6751101ORPHA:654NephroblastomaHP:0040283 - Occasional7642
HP:0008055HP:0000526Aniridia2BTRC CL E G H89451144ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional2
HP:0008055HP:0000526Aniridia2CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0008055HP:0007676Hypoplasia of the iris2CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0008055HP:0007676Hypoplasia of the iris2COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0008055HP:0007676Hypoplasia of the iris2CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0008055HP:0007676Hypoplasia of the iris2CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008055HP:0007676Hypoplasia of the iris2CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008055HP:0000526Aniridia2DIS3L2 CL E G H12956328648ORPHA:654NephroblastomaHP:0040283 - Occasional164
HP:0008055HP:0000526Aniridia2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare
HP:0008055HP:0000526Aniridia2DLX5 CL E G H17492918ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional3
HP:0008055HP:0000526Aniridia2DLX6 CL E G H17502919ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional
HP:0008055HP:0000526Aniridia2ELP4 CL E G H266101171OMIM:617141Aniridia 2.4
HP:0008055HP:0000526Aniridia2EPS15L1 CL E G H5851324634ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional
HP:0008055HP:0007676Hypoplasia of the iris2ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0008055HP:0000526Aniridia2FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0008055HP:0007676Hypoplasia of the iris2FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0008055HP:0000526Aniridia2FBXW4 CL E G H646810847ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional37
HP:0008055HP:0007676Hypoplasia of the iris2FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0008055HP:0007676Hypoplasia of the iris2FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008055HP:0000526Aniridia2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare301
HP:0008055HP:0007676Hypoplasia of the iris2FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0008055HP:0007676Hypoplasia of the iris2FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0008055HP:0000526Aniridia2FOXC1 CL E G H22963800ORPHA:250923Isolated aniridiaHP:0040281 - Very frequent63
HP:0008055HP:0000526Aniridia2FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0008055HP:0000526Aniridia2GPC3 CL E G H27194451ORPHA:654NephroblastomaHP:0040283 - Occasional73
HP:0008055HP:0000526Aniridia2H19 CL E G H2831204713ORPHA:654NephroblastomaHP:0040283 - Occasional4
HP:0008055HP:0007676Hypoplasia of the iris2HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040282 - Frequent
HP:0008055HP:0007676Hypoplasia of the iris2HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0008055HP:0007676Hypoplasia of the iris2HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008055HP:0007676Hypoplasia of the iris2IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0008055HP:0000526Aniridia2ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent177
HP:0008055HP:0000526Aniridia2ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0008055HP:0007676Hypoplasia of the iris2ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0008055HP:0000526Aniridia2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare202
HP:0008055HP:0007676Hypoplasia of the iris2LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.92
HP:0008055HP:0000526Aniridia2LDHD CL E G H19725719708OMIM:245450LACTIC ACIDURIA DUE TO D-LACTIC ACID.
HP:0008055HP:0007676Hypoplasia of the iris2LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008055HP:0007676Hypoplasia of the iris2LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndromeHP:0040283 - Occasional289
HP:0008055HP:0000526Aniridia2MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0008055HP:0007676Hypoplasia of the iris2MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0008055HP:0000526Aniridia2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare84
HP:0008055HP:0000526Aniridia2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare4
HP:0008055HP:0007676Hypoplasia of the iris2MIR184 CL E G H40696031555OMIM:614303Edict syndrome.1
HP:0008055HP:0007676Hypoplasia of the iris2MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0008055HP:0007676Hypoplasia of the iris2NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0008055HP:0007676Hypoplasia of the iris2NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0008055HP:0000526Aniridia2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare1952
HP:0008055HP:0007676Hypoplasia of the iris2NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008055HP:0007676Hypoplasia of the iris2PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0008055HP:0007676Hypoplasia of the iris2PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008055HP:0000526Aniridia2PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008055HP:0000526Aniridia2PAX6 CL E G H50808620ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent194
HP:0008055HP:0007676Hypoplasia of the iris2PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0008055HP:0007676Hypoplasia of the iris2PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0008055HP:0000526Aniridia2PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040283 - Occasional194
HP:0008055HP:0000526Aniridia2PAX6 CL E G H50808620ORPHA:250923Isolated aniridiaHP:0040281 - Very frequent194
HP:0008055HP:0000526Aniridia2PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040281 - Very frequent194
HP:0008055HP:0007676Hypoplasia of the iris2PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0008055HP:0007676Hypoplasia of the iris2PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040281 - Very frequent43
HP:0008055HP:0007676Hypoplasia of the iris2PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0008055HP:0007676Hypoplasia of the iris2PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0008055HP:0000526Aniridia2PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0008055HP:0000526Aniridia2PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0008055HP:0007676Hypoplasia of the iris2PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0008055HP:0000526Aniridia2POU6F2 CL E G H1128121694ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0008055HP:0000526Aniridia2REST CL E G H59789966ORPHA:654NephroblastomaHP:0040283 - Occasional7
HP:0008055HP:0000526Aniridia2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare572
HP:0008055HP:0000526Aniridia2SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0008055HP:0007676Hypoplasia of the iris2SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0008055HP:0000526Aniridia2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare304
HP:0008055HP:0000526Aniridia2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare55
HP:0008055HP:0000526Aniridia2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare237
HP:0008055HP:0000526Aniridia2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare147
HP:0008055HP:0000526Aniridia2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare129
HP:0008055HP:0000526Aniridia2SEM1 CL E G H797910845ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional
HP:0008055HP:0000526Aniridia2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare
HP:0008055HP:0007676Hypoplasia of the iris2SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0008055HP:0007676Hypoplasia of the iris2STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0008055HP:0000526Aniridia2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare131
HP:0008055HP:0000526Aniridia2TP63 CL E G H862615979ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional140
HP:0008055HP:0000526Aniridia2TRIM28 CL E G H1015516384ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0008055HP:0000526Aniridia2TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridiaHP:0040281 - Very frequent1
HP:0008055HP:0000526Aniridia2TRIP13 CL E G H931912307ORPHA:654NephroblastomaHP:0040283 - Occasional2
HP:0008055HP:0000526Aniridia2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040284 - Very rare490
HP:0008055HP:0007676Hypoplasia of the iris2VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0008055HP:0007676Hypoplasia of the iris2WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0008055HP:0000526Aniridia2WNT10B CL E G H748012775ORPHA:2440Isolated split hand-split foot malformationHP:0040283 - Occasional4
HP:0008055HP:0007676Hypoplasia of the iris2WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008055HP:0000526Aniridia2WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008055HP:0000526Aniridia2WT1 CL E G H749012796ORPHA:654NephroblastomaHP:0040283 - Occasional177
HP:0008055HP:0000526Aniridia2WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040281 - Very frequent177
HP:0008055HP:0008345Hypoplasia of the iris dilator muscle3 CL E G H
HP:0008055HP:0000558Rieger anomaly3ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0008055HP:0007990Hypoplastic iris stroma3CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0008055HP:0000558Rieger anomaly3CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0008055HP:0000558Rieger anomaly3CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008055HP:0000558Rieger anomaly3FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0008055HP:0007990Hypoplastic iris stroma3FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0008055HP:0000558Rieger anomaly3FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0008055HP:0000558Rieger anomaly3IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0008055HP:0000558Rieger anomaly3LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008055HP:0000558Rieger anomaly3LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0008055HP:0007990Hypoplastic iris stroma3MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0008055HP:0007990Hypoplastic iris stroma3MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0008055HP:0000558Rieger anomaly3NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0008055HP:0007990Hypoplastic iris stroma3PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0008055HP:0000558Rieger anomaly3PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0008055HP:0007990Hypoplastic iris stroma3PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040282 - Frequent194
HP:0008055HP:0000558Rieger anomaly3PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0008055HP:0007990Hypoplastic iris stroma3PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0008055HP:0000558Rieger anomaly3PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0008055HP:0007990Hypoplastic iris stroma3SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86


Genes (129) :ADAMTSL1 B9D1 B9D2 BAZ1B BCL7B BDNF BRCA1 BRCA2 BRIP1 BTRC BUD23 CC2D2A CEP290 CHN1 CLIP2 COL4A1 CPAMD8 CPLX1 CSPP1 CTBP1 DIS3L2 DLST DLX5 DLX6 DNAJC30 EIF4H ELN ELP4 EPS15L1 ERCC4 ERCC6 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW4 FGFR1 FGFRL1 FH FKBP6 FOXC1 FOXE3 GPC3 GTF2I GTF2IRD1 GTF2IRD2 H19 HHAT HS2ST1 IGF1R ITPR1 KIF1B LAMB2 LDHD LETM1 LIMK1 LRP2 MAD2L2 MAFB MAX MDH2 METTL27 MIR184 MITF MKS1 MLXIPL NCF1 NDP NF1 NSD2 PALB2 PAX3 PAX6 PIK3R1 PITX2 PORCN POU6F2 RAD51 RAD51C REST RET RFC2 RFWD3 RPGRIP1 RPGRIP1L SALL4 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SLC25A11 SLX4 SOX10 STIM1 STX1A TBL2 TCTN1 TCTN2 TCTN3 TMEM107 TMEM127 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TP63 TRIM28 TRIM44 TRIP13 TXNDC15 UBE2T VHL VPS37D VSX1 WDR73 WNT10B WT1 XRCC2

Diseases (52) :ORPHA:521445 ORPHA:564 ORPHA:904 ORPHA:893 ORPHA:84 ORPHA:654 ORPHA:2440 ORPHA:233 OMIM:175780 OMIM:617319 OMIM:194190 ORPHA:29072 OMIM:617141 OMIM:133540 OMIM:602361 OMIM:154700 OMIM:613001 OMIM:601631 ORPHA:782 OMIM:602482 ORPHA:250923 OMIM:610256 ORPHA:1422 OMIM:600092 OMIM:619194 OMIM:270450 ORPHA:1065 OMIM:206700 OMIM:609049 OMIM:245450 OMIM:222448 OMIM:614303 OMIM:193510 ORPHA:190 ORPHA:649 OMIM:310600 OMIM:193500 OMIM:106210 OMIM:604229 ORPHA:2334 ORPHA:137902 OMIM:194072 OMIM:269880 ORPHA:3163 OMIM:137600 OMIM:180500 OMIM:305600 ORPHA:2092 OMIM:611584 OMIM:612783 OMIM:614195 OMIM:251300
 

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