Brushfield spots

Symptom Information:

Symptom ID: HPO:0001088
Synonyms:
Iris brushfield spots [HPO:0001088]
Brushfield spots (finding) [Orphanet:4220]
Brushfield spots [Orphanet:4220]
Brushfield spots [OMIM:Brushfield spots]
Iris Brushfield spots [OMIM:Iris Brushfield spots]
Quality:
Cross references:
Orphanet:4220 "Brushfield spots" [Orphanet:4220]
OMIM: "Brushfield spots" [OMIM:Brushfield spots]
OMIM: "Iris Brushfield spots" [OMIM:Iris Brushfield spots]
UMLS:C1303007 "Brushfield spots" [Orphanet:4220]
Is a (Direct Parents):
Orphanet Abnormality of the eye
HPO         Abnormal iris pigmentation
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 uvea(HPO:0000553)
                   Abnormality of the iris(HPO:0000525)
                      Abnormal iris pigmentation(HPO:0008034)
                         Brushfield spots(HPO:0001088)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the iris(HPO:0000525)
                      Abnormal iris pigmentation(HPO:0008034)
                         Brushfield spots(HPO:0001088)
MedDRA:
Database Frequency: 8 / 7739
Resource:

All diseases associated with this symptom:

ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Down syndrome (Orphanet:870)
Edinburgh malformation syndrome (Orphanet:1895)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Zellweger syndrome (Orphanet:912)