Hypoplastic iris stroma

Symptom Information:

Symptom ID: HPO:0007990
Synonyms:
Hypoplastic iris stoma [HPO:0007990]
Iris stromal hypoplasia [HPO:0007990]
Iris hypoplasia [Orphanet:4160]
Hypoplasia of iris (disorder) [Orphanet:4160]
Hypoplasia of iris [Orphanet:4160]
Hypoplastic iris stoma [OMIM:Hypoplastic iris stoma]
Hypoplastic iris stroma [OMIM:Hypoplastic iris stroma]
Iris stromal hypoplasia [OMIM:Iris stromal 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]
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:0007676 "Hypoplasia of the iris" [Orphanet:4160]
Orphanet:4160 "Aniridia/iris hypoplasia" [Orphanet:4160]
OMIM: "Hypoplastic iris stoma" [OMIM:Hypoplastic iris stoma]
OMIM: "Hypoplastic iris stroma" [OMIM:Hypoplastic iris stroma]
OMIM: "Iris stromal hypoplasia" [OMIM:Iris stromal hypoplasia]
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]
Is a (Direct Parents):
MedDRA Iris and ciliary body structural change, deposit and degeneration
Orphanet Aniridia
HPO         Hypoplasia of the iris
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)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Aplasia/Hypoplasia affecting the anterior segment of the eye(HPO:0008062)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
                            Hypoplastic iris stroma(HPO:0007990)
                   Aplasia/Hypoplasia affecting the uvea(HPO:0008055)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
                            Hypoplastic iris stroma(HPO:0007990)
                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)
                            Hypoplastic iris stroma(HPO:0007990)
                   Abnormality of the iris(HPO:0000525)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
                            Hypoplastic iris stroma(HPO:0007990)
                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)
                            Hypoplastic iris stroma(HPO:0007990)
                   Aplasia/Hypoplasia affecting the anterior segment of the eye(HPO:0008062)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                         Hypoplasia of the iris(HPO:0007676)
                            Hypoplastic iris stroma(HPO:0007990)
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)
          Hypoplastic iris stroma(HPO:0007990)
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

Axenfeld anomaly (Orphanet:98978)
Familial vascular leukoencephalopathy (Orphanet:36383)
IRIDOGONIODYSGENESIS, TYPE 1 (OMIM:601631)
IRIDOGONIODYSGENESIS, TYPE 2 (OMIM:137600)
Rieger anomaly (Orphanet:91483)
WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Waardenburg syndrome type 1 (Orphanet:894)
Waardenburg syndrome type 2 (Orphanet:895)