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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007676HP:0007676Hypoplasia of the iris0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0007676HP:0007676Hypoplasia of the iris0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0007676HP:0007676Hypoplasia of the iris0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0007676HP:0007676Hypoplasia of the iris0CPAMD8 CL E G H2715123228OMIM:617319Anterior segment dysgenesis 85
HP:0007676HP:0007676Hypoplasia of the iris0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0007676HP:0007676Hypoplasia of the iris0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0007676HP:0007676Hypoplasia of the iris0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0007676HP:0007676Hypoplasia of the iris0FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0007676HP:0007676Hypoplasia of the iris0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0007676HP:0007676Hypoplasia of the iris0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0007676HP:0007676Hypoplasia of the iris0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 363
HP:0007676HP:0007676Hypoplasia of the iris0FOXC1 CL E G H22963800OMIM:602482Axenfeld-rieger syndrome, type 3.63
HP:0007676HP:0007676Hypoplasia of the iris0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040282 - Frequent
HP:0007676HP:0007676Hypoplasia of the iris0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0007676HP:0007676Hypoplasia of the iris0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0007676HP:0007676Hypoplasia of the iris0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0007676HP:0007676Hypoplasia of the iris0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0007676HP:0007676Hypoplasia of the iris0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome.92
HP:0007676HP:0007676Hypoplasia of the iris0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0007676HP:0007676Hypoplasia of the iris0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndromeHP:0040283 - Occasional289
HP:0007676HP:0007676Hypoplasia of the iris0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0007676HP:0007676Hypoplasia of the iris0MIR184 CL E G H40696031555OMIM:614303Edict syndrome.1
HP:0007676HP:0007676Hypoplasia of the iris0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A91
HP:0007676HP:0007676Hypoplasia of the iris0NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0007676HP:0007676Hypoplasia of the iris0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0007676HP:0007676Hypoplasia of the iris0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0007676HP:0007676Hypoplasia of the iris0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0007676HP:0007676Hypoplasia of the iris0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0007676HP:0007676Hypoplasia of the iris0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0007676HP:0007676Hypoplasia of the iris0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0007676HP:0007676Hypoplasia of the iris0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040281 - Very frequent43
HP:0007676HP:0007676Hypoplasia of the iris0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0007676HP:0007676Hypoplasia of the iris0PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0007676HP:0007676Hypoplasia of the iris0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0007676HP:0007676Hypoplasia of the iris0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0007676HP:0007676Hypoplasia of the iris0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0007676HP:0007676Hypoplasia of the iris0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0007676HP:0007676Hypoplasia of the iris0STIM1 CL E G H678611386OMIM:612783Immunodeficiency 10.31
HP:0007676HP:0007676Hypoplasia of the iris0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0007676HP:0007676Hypoplasia of the iris0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0007676HP:0007676Hypoplasia of the iris0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0007676HP:0008345Hypoplasia of the iris dilator muscle1 CL E G H
HP:0007676HP:0000558Rieger anomaly1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0007676HP:0007990Hypoplastic iris stroma1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0007676HP:0000558Rieger anomaly1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0007676HP:0000558Rieger anomaly1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0007676HP:0000558Rieger anomaly1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0007676HP:0007990Hypoplastic iris stroma1FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0007676HP:0000558Rieger anomaly1FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0007676HP:0000558Rieger anomaly1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0007676HP:0000558Rieger anomaly1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0007676HP:0000558Rieger anomaly1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0007676HP:0007990Hypoplastic iris stroma1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0007676HP:0007990Hypoplastic iris stroma1MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0007676HP:0000558Rieger anomaly1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0007676HP:0007990Hypoplastic iris stroma1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0007676HP:0000558Rieger anomaly1PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0007676HP:0007990Hypoplastic iris stroma1PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040282 - Frequent194
HP:0007676HP:0000558Rieger anomaly1PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0007676HP:0007990Hypoplastic iris stroma1PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0007676HP:0000558Rieger anomaly1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0007676HP:0007990Hypoplastic iris stroma1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86


Genes (34) :ADAMTSL1 CHN1 COL4A1 CPAMD8 CPLX1 CTBP1 ERCC6 FBN1 FGFR1 FGFRL1 FOXC1 HHAT HS2ST1 IGF1R ITPR1 LAMB2 LETM1 LRP2 MAFB MIR184 MITF NDP NSD2 PAX3 PAX6 PIK3R1 PITX2 PORCN SALL4 SOX10 STIM1 VSX1 WDR73 WT1

Diseases (34) :ORPHA:521445 ORPHA:233 OMIM:175780 OMIM:617319 OMIM:194190 OMIM:133540 OMIM:154700 OMIM:613001 OMIM:601631 OMIM:602482 ORPHA:1422 OMIM:600092 OMIM:619194 OMIM:270450 OMIM:206700 OMIM:609049 OMIM:222448 OMIM:614303 OMIM:193510 OMIM:310600 ORPHA:649 OMIM:193500 OMIM:106210 OMIM:604229 ORPHA:2334 ORPHA:3163 OMIM:269880 OMIM:137600 OMIM:180500 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.