Hypoplasia of the iris

Symptom Information:

Symptom ID: HPO:0007676
Synonyms:
Hypoplastic iris [HPO:0007676]
Iris hypoplasia [HPO:0007676]
Iris hypoplasia [Orphanet:4160]
Aniridia [Orphanet:4160]
Hypoplasia of iris (disorder) [Orphanet:4160]
Congenital aniridia (disorder) [Orphanet:4160]
Hypoplasia of iris [Orphanet:4160]
Hypoplasia of the iris [OMIM:Hypoplasia of the iris]
Hypoplastic iris [OMIM:Hypoplastic iris]
Iris hypoplasia [OMIM:Iris hypoplasia]
Aniridia/iris hypoplasia [Orphanet:4160]
Hypoplastic iris [Orphanet:4160]
Iris atrophy [MedDRA:10022948]
Degeneration of pupillary margin [MedDRA:10022948]
Degenerations of iris and ciliary body [MedDRA:10022948]
Essential or progressive iris atrophy [MedDRA:10022948]
Miotic cysts of pupillary margin [MedDRA:10022948]
Other iris atrophy [MedDRA:10022948]
Pigmentary iris degeneration [MedDRA:10022948]
Iris degeneration [MedDRA:10022948]
Hypoplastic iris [MedDRA:10022948]
Aniridia [MedDRA:10002532]
Anirida [MedDRA:10002532]
Aniridia (3%) [OMIM:Aniridia (3%)]
Hypoplastic irides [OMIM:Hypoplastic irides]
Iris hypoplasia (reported in 1 family) [OMIM:Iris hypoplasia (reported in 1 family)]
Quality:
Cross references:
HPO:0008053 "Aplasia/Hypoplasia of the iris" [Orphanet:4160]
HPO:0001089 "Iris atrophy" [Orphanet:4160]
HPO:0007990 "Hypoplastic iris stroma" [Orphanet:4160]
HPO:0000526 "Aniridia" [Orphanet:4160]
Orphanet:4160 "Aniridia/iris hypoplasia" [Orphanet:4160]
OMIM: "Hypoplasia of the iris" [OMIM:Hypoplasia of the iris]
OMIM: "Hypoplastic iris" [OMIM:Hypoplastic iris]
OMIM: "Iris hypoplasia" [OMIM:Iris hypoplasia]
OMIM: "Aniridia (3%)" [OMIM:Aniridia (3%)]
OMIM: "Hypoplastic irides" [OMIM:Hypoplastic irides]
OMIM: "Iris hypoplasia (reported in 1 family)" [OMIM:Iris hypoplasia (reported in 1 family)]
UMLS:C0344539 "Hypoplasia of iris" [Orphanet:4160]
UMLS:C0003076 "Aniridia" [Orphanet:4160]
Is a (Direct Parents):
HPO         Aplasia/Hypoplasia of the iris
Orphanet Aniridia
MedDRA Iris and ciliary body structural change, deposit and degeneration
Orphanet Abnormality of the eye
MedDRA Iris and choroid disorders congenital
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)
                         Hypoplasia of the iris(HPO:0007676)
                   Abnormality of the iris(HPO:0000525)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Aplasia/Hypoplasia affecting the uvea(HPO:0008055)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
                   Aplasia/Hypoplasia affecting the anterior segment of the eye(HPO:0008062)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the iris(HPO:0000525)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
                   Aplasia/Hypoplasia affecting the anterior segment of the eye(HPO:0008062)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
MedDRA:
Eye disorders(MedDRA:10015919)
    Anterior eye structural change, deposit and degeneration(MedDRA:10002693)
       Iris and ciliary body structural change, deposit and degeneration(MedDRA:10022952)
          Hypoplasia of the iris(HPO:0007676)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Iris and choroid disorders congenital(MedDRA:10022946)
          Hypoplasia of the iris(HPO:0007676)
Database Frequency: 22 / 7739
Resource:

All diseases associated with this symptom:

AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Axenfeld-Rieger syndrome (Orphanet:782)
COCKAYNE SYNDROME B (OMIM:133540)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Cockayne syndrome (Orphanet:191)
Combined immunodeficiency due to STIM1 deficiency (Orphanet:317430)
Donnai-Barrow syndrome (Orphanet:2143)
Dubowitz syndrome (Orphanet:235)
Dwarfism - intellectual deficit - eye abnormality (Orphanet:2650)
EDICT syndrome (Orphanet:293936)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
Familial vascular leukoencephalopathy (Orphanet:36383)
Focal dermal hypoplasia (Orphanet:2092)
Galloway-Mowat syndrome (Orphanet:2065)
IRIS HYPOPLASIA WITH GLAUCOMA (OMIM:308500)
Marfan syndrome type 1 (Orphanet:284963)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Norrie disease (Orphanet:649)
Pierson syndrome (Orphanet:2670)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)