Central heterochromia

Symptom Information:

Symptom ID: HPO:0007818
Synonyms:
Ring iris heterochromia [HPO:0007818]
Heterochromia iridis [Orphanet:4200]
Heterochromic iris (finding) [Orphanet:4200]
Ring iris heterochromia [OMIM:Ring iris heterochromia]
Heterochromia/mixed colouring of iris [Orphanet:4200]
Heterochromia iridis [MedDRA:10066799]
Sectoral heterochromia iridis [MedDRA:10066799]
Heterochromia iridis (complete or partial) [OMIM:Heterochromia iridis (complete or partial)]
Quality:
Cross references:
HPO:0001100 "Heterochromia iridis" [Orphanet:4200]
Orphanet:4200 "Heterochromia/mixed colouring of iris" [Orphanet:4200]
OMIM: "Ring iris heterochromia" [OMIM:Ring iris heterochromia]
OMIM: "Heterochromia iridis (complete or partial)" [OMIM:Heterochromia iridis (complete or partial)]
UMLS:C0423318 "Heterochromia iridis" [Orphanet:4200]
Is a (Direct Parents):
MedDRA Iris and choroid disorders congenital
HPO         Heterochromia iridis
Orphanet Abnormality of the eye
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 iris(HPO:0000525)
                      Abnormal iris pigmentation(HPO:0008034)
                         Heterochromia iridis(HPO:0001100)
                            Central heterochromia(HPO:0007818)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the iris(HPO:0000525)
                      Abnormal iris pigmentation(HPO:0008034)
                         Heterochromia iridis(HPO:0001100)
                            Central heterochromia(HPO:0007818)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Iris and choroid disorders congenital(MedDRA:10022946)
          Central heterochromia(HPO:0007818)
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Waardenburg syndrome type 3 (Orphanet:896)