Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality iris morphology (HP:0000525)help
Grandparent Node:
expand
Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)help
Grandparent Node:
expand
Aplasia/Hypoplasia affecting the uvea (HP:0008055)help
Parent Node:
expand
Aplasia/Hypoplasia of the iris (HP:0008053)help
..Starting node
..expand
Aniridia (HP:0000526)help
Term ID: 526
Name: Aniridia
Synonym: Absent iris
Definition: Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.
Comments:
Reference: HP:0000526
Genes and Diseases:
 
       Child Nodes:
........expandPartial aniridia (HP:0011498) help

 Sister Nodes: 
..expandHypoplasia of the iris (HP:0007676) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000526HP:0000526Aniridia0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM194124725615292
HP:0000526HP:0000526Aniridia0FOXC1 CL E G H2296250923ORPHA11392153800601090
HP:0000526HP:0000526Aniridia0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131863808601094
HP:0000526HP:0000526Aniridia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA1955016180147265
HP:0000526HP:0000526Aniridia0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0000526HP:0000526Aniridia0PAX6 CL E G H5080250923ORPHA15714968620607108
HP:0000526HP:0000526Aniridia0PAX6 CL E G H5080106210Aniridia 1106210C0344542OMIM15714968620607108
HP:0000526HP:0000526Aniridia0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA15714968620607108
HP:0000526HP:0000526Aniridia0PAX6 CL E G H5080194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome194072C0206115OMIM15714968620607108
HP:0000526HP:0000526Aniridia0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11041369005601542
HP:0000526HP:0000526Aniridia0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000526HP:0000526Aniridia0TRIM44 CL E G H54765250923ORPHA112619016612298
HP:0000526HP:0000526Aniridia0WT1 CL E G H7490106210Aniridia 1106210C0344542OMIM118463512796607102
HP:0000526HP:0000526Aniridia0WT1 CL E G H7490194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome194072C0206115OMIM118463512796607102
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000526HP:0000526Aniridia0BRCA2 CL E G H675654Ampola syndromeORPHA03025127061101600185
HP:0000526HP:0000526Aniridia0BTRC CL E G H89452440ORPHA06561144603482
HP:0000526HP:0000526Aniridia0CHN1 CL E G H1123233D ercole syndromeORPHA0111111943118423
HP:0000526HP:0000526Aniridia0COL25A1 CL E G H84570233D ercole syndromeORPHA044118603610004
HP:0000526HP:0000526Aniridia0DIS3L2 CL E G H129563654Ampola syndromeORPHA01488128648614184
HP:0000526HP:0000526Aniridia0DLX5 CL E G H17492440ORPHA011272918600028
HP:0000526HP:0000526Aniridia0DLX6 CL E G H17502440ORPHA04202919600030
HP:0000526HP:0000526Aniridia0EPS15L1 CL E G H585132440ORPHA011424634616826
HP:0000526HP:0000526Aniridia0FH CL E G H227129072ORPHA02168903700136850
HP:0000526HP:0000526Aniridia0GPC3 CL E G H2719654Ampola syndromeORPHA0985264451300037
HP:0000526HP:0000526Aniridia0H19 CL E G H283120654Ampola syndromeORPHA038494713103280
HP:0000526HP:0000526Aniridia0KIF1B CL E G H2309529072ORPHA01353216636605995
HP:0000526HP:0000526Aniridia0MAFB CL E G H9935233D ercole syndromeORPHA0251056408608968
HP:0000526HP:0000526Aniridia0MAX CL E G H414929072ORPHA0322076913154950
HP:0000526HP:0000526Aniridia0MDH2 CL E G H419129072ORPHA09676971154100
HP:0000526HP:0000526Aniridia0POU6F2 CL E G H11281654Ampola syndromeORPHA045221694609062
HP:0000526HP:0000526Aniridia0REST CL E G H5978654Ampola syndromeORPHA017909966600571
HP:0000526HP:0000526Aniridia0RET CL E G H597929072ORPHA043214969967164761
HP:0000526HP:0000526Aniridia0SDHA CL E G H638929072ORPHA091127910680600857
HP:0000526HP:0000526Aniridia0SDHAF2 CL E G H5494929072ORPHA0522026034613019
HP:0000526HP:0000526Aniridia0SDHB CL E G H639029072ORPHA027966710681185470
HP:0000526HP:0000526Aniridia0SDHC CL E G H639129072ORPHA06241510682602413
HP:0000526HP:0000526Aniridia0SDHD CL E G H639229072ORPHA017436110683602690
HP:0000526HP:0000526Aniridia0SEM1 CL E G H79792440ORPHA081810845601285
HP:0000526HP:0000526Aniridia0TMEM127 CL E G H5565429072ORPHA05244926038613403
HP:0000526HP:0000526Aniridia0TP63 CL E G H86262440ORPHA012828215979603273
HP:0000526HP:0000526Aniridia0TRIM28 CL E G H10155654Ampola syndromeORPHA031716384601742
HP:0000526HP:0000526Aniridia0TRIP13 CL E G H9319654Ampola syndromeORPHA0216212307604507
HP:0000526HP:0000526Aniridia0VHL CL E G H742829072ORPHA0617109712687608537
HP:0000526HP:0000526Aniridia0WNT10B CL E G H74802440ORPHA0203712775601906
HP:0000526HP:0000526Aniridia0WT1 CL E G H7490654Ampola syndromeORPHA018463512796607102


Genes (39) :BRCA2 BTRC CHN1 COL25A1 DIS3L2 DLX5 DLX6 EPS15L1 FAM111A FH FOXC1 FOXE3 GPC3 H19 ITPR1 KIF1B MAFB MAX MDH2 PAX6 PITX2 PORCN POU6F2 REST RET SDHA SDHAF2 SDHB SDHC SDHD SEM1 TMEM127 TP63 TRIM28 TRIM44 TRIP13 VHL WNT10B WT1

Diseases (13) :654 2440 233 602361 29072 250923 610256 1065 206700 106210 194072 180500 305600
 

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