Aplasia/Hypoplasia of the iris

Symptom Information:

Symptom ID: HPO:0008053
Synonyms:
Iris hypoplasia [Orphanet:4160]
Hypoplasia of iris (disorder) [Orphanet:4160]
Hypoplasia of iris [Orphanet:4160]
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:0001089 "Iris atrophy" [Orphanet:4160]
HPO:0007676 "Hypoplasia of the iris" [Orphanet:4160]
HPO:0007990 "Hypoplastic iris stroma" [Orphanet:4160]
Orphanet:4160 "Aniridia/iris hypoplasia" [Orphanet:4160]
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):
Orphanet Abnormality of the eye
MedDRA Iris and ciliary body structural change, deposit and degeneration
HPO         Aplasia/Hypoplasia affecting the anterior segment of the eye
Orphanet Aniridia
HPO         Abnormality of the iris
HPO         Aplasia/Hypoplasia affecting the uvea
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)
                   Aplasia/Hypoplasia affecting the anterior segment of the eye(HPO:0008062)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                   Abnormality of the iris(HPO:0000525)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the iris(HPO:0000525)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                   Aplasia/Hypoplasia affecting the uvea(HPO:0008055)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Aplasia/Hypoplasia affecting the uvea(HPO:0008055)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
                   Aplasia/Hypoplasia affecting the anterior segment of the eye(HPO:0008062)
                      Aplasia/Hypoplasia of the iris(HPO:0008053)
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)
          Aplasia/Hypoplasia of the iris(HPO:0008053)
Database Frequency: 38 / 7739
Resource:

All diseases associated with this symptom:

3q29 microduplication (Orphanet:251038)
Aniridia (Orphanet:77)
Aniridia - absent patella (Orphanet:1069)
Aniridia - cerebellar ataxia - intellectual deficit (Orphanet:1065)
Aniridia - ptosis - intellectual deficit - familial obesity (Orphanet:1067)
Aniridia - renal agenesis - psychomotor retardation (Orphanet:1064)
Aniridia-intellectual deficit syndrome (Orphanet:1068)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Axenfeld-Rieger syndrome (Orphanet:782)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Coats disease (Orphanet:190)
Combined immunodeficiency due to CRAC channel dysfunction (Orphanet:169090)
Congenital rubella syndrome (Orphanet:290)
Deafness - onychodystrophy (Orphanet:3231)
Distal monosomy 6p (Orphanet:96125)
Duane retraction syndrome (Orphanet:233)
Familial cutaneous collagenoma (Orphanet:53296)
Familial vascular leukoencephalopathy (Orphanet:36383)
Fanconi anemia (Orphanet:84)
Focal dermal hypoplasia (Orphanet:2092)
GMS syndrome (Orphanet:2090)
Isolated aniridia (Orphanet:250923)
Ito hypomelanosis (Orphanet:435)
Meckel syndrome (Orphanet:564)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Nephroblastoma (Orphanet:654)
Norrie disease (Orphanet:649)
Oculodentodigital dysplasia (Orphanet:2710)
PHACE syndrome (Orphanet:42775)
Robinow-like syndrome (Orphanet:3105)
SHORT syndrome (Orphanet:3163)
Split hand-split foot malformation (Orphanet:2440)
Trisomy 12p (Orphanet:1699)
Trisomy 13 (Orphanet:3378)
WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
WAGR syndrome (Orphanet:893)
Williams syndrome (Orphanet:904)
Yunis-Varon syndrome (Orphanet:3472)