Human Phenotype Ontology 
Grandparent Node:
expand
Aplasia/Hypoplasia of the iris (HP:0008053)help
Parent Node:
expand
Hypoplasia of the iris (HP:0007676)help
..Starting node
..expand
Hypoplastic iris stroma (HP:0007990)help
Term ID: 7990
Name: Hypoplastic iris stroma
Synonym: Hypoplastic iris stoma; Iris stromal hypoplasia; Underdeveloped iris stroma
Definition: Underdevelopment of the stroma of iris.
Comments:
Reference: HP:0007990
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplasia of the iris dilator muscle (HP:0008345) help
..expandRieger anomaly (HP:0000558) 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:0007990HP:0007990Hypoplastic iris stroma0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0007990HP:0007990Hypoplastic iris stroma0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0007990HP:0007990Hypoplastic iris stroma0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0007990HP:0007990Hypoplastic iris stroma0MITF CL E G H42867105OMIM:193510Waardenburg syndrome, type 2A.91
HP:0007990HP:0007990Hypoplastic iris stroma0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0007990HP:0007990Hypoplastic iris stroma0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040282 - Frequent194
HP:0007990HP:0007990Hypoplastic iris stroma0PITX2 CL E G H53089005OMIM:137600ANTERIOR SEGMENT DYSGENESIS 4; ASGD451
HP:0007990HP:0007990Hypoplastic iris stroma0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86


Genes (8) :CHN1 FOXC1 MAFB MITF PAX3 PAX6 PITX2 SALL4

Diseases (6) :ORPHA:233 OMIM:601631 OMIM:193510 OMIM:193500 ORPHA:2334 OMIM:137600
 

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