Human Phenotype Ontology 
Grandparent Node:
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Abnormality iris morphology (HP:0000525)help
Grandparent Node:
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Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)help
Grandparent Node:
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Aplasia/Hypoplasia affecting the uvea (HP:0008055)help
Parent Node:
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Aplasia/Hypoplasia of the iris (HP:0008053)help
..Starting node
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Hypoplasia of the iris (HP:0007676)help
Term ID: 7676
Name: Hypoplasia of the iris
Synonym: Hypoplastic iris; Iris hypoplasia; Underdeveloped iris
Definition: Congenital underdevelopment of the iris.
Comments:
Reference: HP:0007676
Genes and Diseases:
 
       Child Nodes:
........expandRieger anomaly (HP:0000558) help
........expandHypoplastic iris stroma (HP:0007990) help
........expandHypoplasia of the iris dilator muscle (HP:0008345) help

 Sister Nodes: 
..expandAniridia (HP:0000526) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007676HP:0007676Hypoplasia of the iris0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0007676HP:0007676Hypoplasia of the iris0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0007676HP:0007676Hypoplasia of the iris0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0007676HP:0007676Hypoplasia of the iris0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0007676HP:0007676Hypoplasia of the iris0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11392153800601090
HP:0007676HP:0007676Hypoplasia of the iris0HHAT CL E G H557331422Cohen Hayden syndromeORPHA144818270605743
HP:0007676HP:0007676Hypoplasia of the iris0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0007676HP:0007676Hypoplasia of the iris0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM11273686487150325
HP:0007676HP:0007676Hypoplasia of the iris0MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM141931555613146
HP:0007676HP:0007676Hypoplasia of the iris0NDP CL E G H4693649ORPHA11672077678300658
HP:0007676HP:0007676Hypoplasia of the iris0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0007676HP:0007676Hypoplasia of the iris0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1291568979171833
HP:0007676HP:0007676Hypoplasia of the iris0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11041369005601542
HP:0007676HP:0007676Hypoplasia of the iris0PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0007676HP:0007676Hypoplasia of the iris0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM115119211190602229
HP:0007676HP:0007676Hypoplasia of the iris0STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM12524211386605921
HP:0007676HP:0007676Hypoplasia of the iris0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
HP:0007676HP:0007676Hypoplasia of the iris1CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0007676HP:0007676Hypoplasia of the iris1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0007676HP:0007676Hypoplasia of the iris1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0007676HP:0007676Hypoplasia of the iris1FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0007676HP:0007676Hypoplasia of the iris1FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11392153800601090
HP:0007676HP:0007676Hypoplasia of the iris1HHAT CL E G H557331422Cohen Hayden syndromeORPHA144818270605743
HP:0007676HP:0007676Hypoplasia of the iris1ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0007676HP:0007676Hypoplasia of the iris1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM11273686487150325
HP:0007676HP:0007676Hypoplasia of the iris1MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM141931555613146
HP:0007676HP:0007676Hypoplasia of the iris1NDP CL E G H4693649ORPHA11672077678300658
HP:0007676HP:0007676Hypoplasia of the iris1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0007676HP:0007676Hypoplasia of the iris1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA1291568979171833
HP:0007676HP:0007676Hypoplasia of the iris1PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11041369005601542
HP:0007676HP:0007676Hypoplasia of the iris1PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0007676HP:0007676Hypoplasia of the iris1SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM115119211190602229
HP:0007676HP:0007676Hypoplasia of the iris1STIM1 CL E G H6786612783Immune dysfunction with T-cell inactivation due to calcium entry defect 2612783C2748557OMIM12524211386605921
HP:0007676HP:0007676Hypoplasia of the iris1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM1129525928616144
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007676HP:0007676Hypoplasia of the iris0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0007676HP:0007676Hypoplasia of the iris0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM0466006694600073
HP:0007676HP:0007676Hypoplasia of the iris1COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0007676HP:0007676Hypoplasia of the iris1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM0466006694600073


Genes (31) :ADAMTSL1 CHN1 COL25A1 COL4A1 CPAMD8 CPLX1 CTBP1 ERCC6 FBN1 FGFR1 FGFRL1 FOXC1 HHAT IGF1R ITPR1 LAMB2 LETM1 LRP2 MAFB MIR184 MITF NDP NSD2 PAX3 PIK3R1 PITX2 PORCN SOX10 STIM1 WDR73 WHCR

Diseases (28) :607595 617319 133540 154700 613001 602482 1422 206700 609049 222448 614303 649 310600 3163 180500 2092 611584 612783 251300 521445 233 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.