Human Phenotype Ontology 
Grandparent Node:
expandAbnormal anterior chamber morphology (HP:0000593)help
Parent Node:
expandOcular anterior segment dysgenesis (HP:0007700)help
..Starting node
..expandAxenfeld anomaly (HP:0001492)help
Term ID: 1492
Name: Axenfeld anomaly
Synonym:
Definition: Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.
Comments:
Reference: HP:0001492
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPeters anomaly (HP:0000659) 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:0001492HP:0001492Axenfeld anomaly0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0001492HP:0001492Axenfeld anomaly0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0001492HP:0001492Axenfeld anomaly0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2HP:0040283 - Occasional13
HP:0001492HP:0001492Axenfeld anomaly0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0001492HP:0001492Axenfeld anomaly0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362


Genes (4) :FOXC1 JAG1 SLC38A8 ZEB2

Diseases (5) :OMIM:601631 OMIM:118450 OMIM:609218 ORPHA:261552 ORPHA:261537
 

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