Human Phenotype Ontology 
Grandparent Node:
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Abnormal uvea morphology (HP:0000553)help
Grandparent Node:
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Aplasia/Hypoplasia affecting the eye (HP:0008056)help
Parent Node:
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Abnormality iris morphology (HP:0000525)help
Parent Node:
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Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)help
Parent Node:
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Aplasia/Hypoplasia affecting the uvea (HP:0008055)help
..Starting node
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Aplasia/Hypoplasia of the iris (HP:0008053)help
Term ID: 8053
Name: Aplasia/Hypoplasia of the iris
Synonym: Absent/small iris; Absent/underdeveloped iris
Definition: Absence or underdevelopment of the iris.
Comments:
Reference: HP:0008053
Genes and Diseases:
 
       Child Nodes:
........expandAniridia (HP:0000526) help
................... HP:0011498 Partial aniridia
........expandHypoplasia of the iris (HP:0007676) help
................... HP:0000558 Rieger anomaly
................... HP:0007990 Hypoplastic iris stroma
................... HP:0008345 Hypoplasia of the iris dilator muscle

 Sister Nodes: 
..expandHypoplasia of the ciliary body (HP:0007774) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0B9D1 CL E G H27077564ORPHA11015824123614144
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0B9D2 CL E G H80776564ORPHA144028636611951
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0BDNF CL E G H627893ORPHA135431033113505
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0CEP290 CL E G H80184564ORPHA131088429021610142
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0CEP55 CL E G H55165564ORPHA12341161610000
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11392153800601090
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FOXE3 CL E G H230188632ORPHA131863808601094
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0MKS1 CL E G H54903564ORPHA1523347121609883
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0PAX6 CL E G H5080893ORPHA15714968620607108
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11041369005601542
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0PITX3 CL E G H530988632ORPHA115299006602669
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0TMEM107 CL E G H84314564ORPHA138128128616183
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0WDPCP CL E G H51057564ORPHA1817628027613580
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0WT1 CL E G H7490893ORPHA118463512796607102
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1B9D1 CL E G H27077564ORPHA11015824123614144
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1B9D2 CL E G H80776564ORPHA144028636611951
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1BDNF CL E G H627893ORPHA135431033113505
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1CEP290 CL E G H80184564ORPHA131088429021610142
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1CEP55 CL E G H55165564ORPHA12341161610000
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11392153800601090
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FOXE3 CL E G H230188632ORPHA131863808601094
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1MKS1 CL E G H54903564ORPHA1523347121609883
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H5080893ORPHA15714968620607108
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11041369005601542
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1PITX3 CL E G H530988632ORPHA115299006602669
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1TMEM107 CL E G H84314564ORPHA138128128616183
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1WDPCP CL E G H51057564ORPHA1817628027613580
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1WT1 CL E G H7490893ORPHA118463512796607102
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2B9D1 CL E G H27077564ORPHA11015824123614144
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2B9D2 CL E G H80776564ORPHA144028636611951
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2BDNF CL E G H627893ORPHA135431033113505
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2CEP290 CL E G H80184564ORPHA131088429021610142
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2CEP55 CL E G H55165564ORPHA12341161610000
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FOXC1 CL E G H2296782Arthrogryposis IUGR thoracic dystrophyORPHA11392153800601090
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FOXE3 CL E G H230188632ORPHA131863808601094
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2MKS1 CL E G H54903564ORPHA1523347121609883
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2PAX6 CL E G H5080893ORPHA15714968620607108
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2PITX2 CL E G H5308782Arthrogryposis IUGR thoracic dystrophyORPHA11041369005601542
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2PITX3 CL E G H530988632ORPHA115299006602669
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2TMEM107 CL E G H84314564ORPHA138128128616183
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2WDPCP CL E G H51057564ORPHA1817628027613580
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2WT1 CL E G H7490893ORPHA118463512796607102
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0ERCC4 CL E G H207284ORPHA0723483436133520
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCA CL E G H217584ORPHA068917063582607139
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCB CL E G H218784ORPHA0213523583300515
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCC CL E G H217684ORPHA0658823584613899
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCD2 CL E G H217784ORPHA0644293585613984
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCE CL E G H217884ORPHA0172013586613976
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCF CL E G H218884ORPHA0162023587613897
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCG CL E G H218984ORPHA0923253588602956
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCI CL E G H5521584ORPHA04552125568611360
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCL CL E G H5512084ORPHA02417620748608111
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0FANCM CL E G H5769784ORPHA05369723168609644
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0NDP CL E G H4693190ORPHA01672077678300658
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0PAX6 CL E G H5080137902ORPHA05714968620607108
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0RAD51 CL E G H588884ORPHA016369817179617
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0RAD51C CL E G H588984ORPHA013111309820602774
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0RFWD3 CL E G H5515984ORPHA024925539614151
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0SLX4 CL E G H8446484ORPHA07281823845613278
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0UBE2T CL E G H2908984ORPHA071825009610538
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris0XRCC2 CL E G H751684ORPHA02335812829600375
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1ERCC4 CL E G H207284ORPHA0723483436133520
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCA CL E G H217584ORPHA068917063582607139
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCB CL E G H218784ORPHA0213523583300515
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCC CL E G H217684ORPHA0658823584613899
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCD2 CL E G H217784ORPHA0644293585613984
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCE CL E G H217884ORPHA0172013586613976
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCF CL E G H218884ORPHA0162023587613897
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCG CL E G H218984ORPHA0923253588602956
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCI CL E G H5521584ORPHA04552125568611360
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCL CL E G H5512084ORPHA02417620748608111
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1FANCM CL E G H5769784ORPHA05369723168609644
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1NDP CL E G H4693190ORPHA01672077678300658
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1PAX6 CL E G H5080137902ORPHA05714968620607108
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1RAD51 CL E G H588884ORPHA016369817179617
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1RAD51C CL E G H588984ORPHA013111309820602774
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1RFWD3 CL E G H5515984ORPHA024925539614151
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1SLX4 CL E G H8446484ORPHA07281823845613278
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1UBE2T CL E G H2908984ORPHA071825009610538
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris1XRCC2 CL E G H751684ORPHA02335812829600375
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2BRCA1 CL E G H67284ORPHA02824114981100113705
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2BRCA2 CL E G H67584ORPHA03025127061101600185
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2BRIP1 CL E G H8399084ORPHA0202305020473605882
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2ERCC4 CL E G H207284ORPHA0723483436133520
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCA CL E G H217584ORPHA068917063582607139
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCB CL E G H218784ORPHA0213523583300515
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCC CL E G H217684ORPHA0658823584613899
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCD2 CL E G H217784ORPHA0644293585613984
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCE CL E G H217884ORPHA0172013586613976
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCF CL E G H218884ORPHA0162023587613897
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCG CL E G H218984ORPHA0923253588602956
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCI CL E G H5521584ORPHA04552125568611360
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCL CL E G H5512084ORPHA02417620748608111
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2FANCM CL E G H5769784ORPHA05369723168609644
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2MAD2L2 CL E G H1045984ORPHA01546764604094
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2NDP CL E G H4693190ORPHA01672077678300658
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2PALB2 CL E G H7972884ORPHA0417350326144610355
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2PAX6 CL E G H5080137902ORPHA05714968620607108
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2RAD51 CL E G H588884ORPHA016369817179617
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2RAD51C CL E G H588984ORPHA013111309820602774
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2RFWD3 CL E G H5515984ORPHA024925539614151
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2SLX4 CL E G H8446484ORPHA07281823845613278
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2UBE2T CL E G H2908984ORPHA071825009610538
HP:0008053HP:0008053Aplasia/Hypoplasia of the iris2XRCC2 CL E G H751684ORPHA02335812829600375


Genes (109) :ADAMTSL1 B9D1 B9D2 BAZ1B BDNF BRCA1 BRCA2 BRIP1 BTRC CC2D2A CEP290 CEP55 CHN1 CLIP2 COL25A1 COL4A1 CPAMD8 CPLX1 CSPP1 CTBP1 DIS3L2 DLX5 DLX6 ELN EPS15L1 ERCC4 ERCC6 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGFR1 FGFRL1 FH FOXC1 FOXE3 GPC3 GTF2I GTF2IRD1 H19 HHAT IGF1R ITPR1 KIF1B LAMB2 LETM1 LIMK1 LRP2 MAD2L2 MAFB MAX MDH2 MIR184 MITF MKS1 NDP NSD2 PALB2 PAX3 PAX6 PIK3R1 PITX2 PITX3 PORCN POU6F2 RAD51 RAD51C REST RET RFC2 RFWD3 RPGRIP1 RPGRIP1L SDHA SDHAF2 SDHB SDHC SDHD SEM1 SLX4 SOX10 STIM1 TBL2 TCTN2 TMEM107 TMEM127 TMEM216 TMEM231 TMEM67 TP63 TRIM28 TRIM44 TRIP13 UBE2T VHL WDPCP WDR73 WHCR WNT10B WT1 XRCC2

Diseases (46) :564 904 893 84 782 88632 190 137902 654 2440 233 607595 617319 133540 602361 154700 613001 29072 250923 602482 610256 1422 1065 206700 609049 222448 614303 649 310600 106210 194072 3163 180500 2092 305600 611584 612783 251300 521445 194190 601631 270450 193510 193500 269880 137600
 

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