Axenfeld anomaly

Symptom Information:

Symptom ID: HPO:0001492
Synonyms:
Axenfeld anomaly [OMIM:Axenfeld anomaly]
Quality:
Cross references:
OMIM: "Axenfeld anomaly" [OMIM:Axenfeld anomaly]
Is a (Direct Parents):
HPO         Anterior segment dysgenesis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the anterior chamber(HPO:0000593)
                      Anterior segment dysgenesis(HPO:0007700)
                         Axenfeld anomaly(HPO:0001492)
MedDRA:
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Distal monosomy 6p (Orphanet:96125)
FOVEAL HYPOPLASIA 2 (OMIM:609218)
Mowat-Wilson syndrome (Orphanet:2152)
Ramon syndrome (Orphanet:3019)