Aniridia

Symptom Information:

Symptom ID: HPO:0000526
Synonyms:
Congenital aniridia (disorder) [Orphanet:4160]
Aniridia [Orphanet:4160]
Aniridia [OMIM:Aniridia]
Aniridia/iris hypoplasia [Orphanet:4160]
Aniridia [MedDRA:10002532]
Anirida [MedDRA:10002532]
Aniridia (3%) [OMIM:Aniridia (3%)]
Quality:
Cross references:
HPO:0001089 "Iris atrophy" [Orphanet:4160]
HPO:0007676 "Hypoplasia of the iris" [Orphanet:4160]
Orphanet:4160 "Aniridia/iris hypoplasia" [Orphanet:4160]
OMIM: "Aniridia" [OMIM:Aniridia]
OMIM: "Aniridia (3%)" [OMIM:Aniridia (3%)]
UMLS:C0003076 "Aniridia" [HPO:0000526]
UMLS:C0003076 "Aniridia" [Orphanet:4160]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the iris
MedDRA Iris and choroid disorders congenital
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 uvea(HPO:0000553)
                   Aplasia/Hypoplasia affecting the uvea(HPO:0008055)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Aniridia(HPO:0000526)
                   Abnormality of the iris(HPO:0000525)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Aniridia(HPO:0000526)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Aplasia/Hypoplasia affecting the uvea(HPO:0008055)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Aniridia(HPO:0000526)
                   Aplasia/Hypoplasia affecting the anterior segment of the eye(HPO:0008062)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Aniridia(HPO:0000526)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the iris(HPO:0000525)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Aniridia(HPO:0000526)
                   Aplasia/Hypoplasia affecting the anterior segment of the eye(HPO:0008062)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Aniridia(HPO:0000526)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Iris and choroid disorders congenital(MedDRA:10022946)
          Aniridia(HPO:0000526)
Database Frequency: 12 / 7739
Resource:

All diseases associated with this symptom:

ANIRIDIA, MICROCORNEA, AND SPONTANEOUSLY REABSORBED CATARACT (OMIM:106230)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Aniridia - absent patella (Orphanet:1069)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Axenfeld-Rieger syndrome (Orphanet:782)
Congenital primary aphakia (Orphanet:83461)
Focal dermal hypoplasia (Orphanet:2092)
Isolated aniridia (Orphanet:250923)
LACTIC ACIDURIA DUE TO D-LACTIC ACID (OMIM:245450)
Osteocraniostenosis (Orphanet:2763)
WAGR syndrome (Orphanet:893)
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATIONSYNDROME (OMIM:194072)