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Chorioretinopathy, Birdshot type
1 OMIM reference -
1 associated gene
36 connected diseases
No signs/symptoms info
Disease Type of connection
Immunodeficiency by defective expression of HLA class 1
Precursor T-cell acute lymphoblastic leukemia
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Autosomal dominant beta2-microglobulinic amyloidosis
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Mantle cell lymphoma
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant hyper-IgE syndrome
Behavioral variant of frontotemporal dementia
Boomerang dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Muscle filaminopathy
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spondylocarpotarsal synostosis
Acrodysostosis with multiple hormone resistance
Carney complex
Combined deficiency of factor V and factor VIII
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
(no synonyms)

Classification (Orphanet):
- Rare eye disease

Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: normal
Type of inheritance: unknown
External references:
1 OMIM reference -
1 MeSH reference: C537630

Gene symbol UniProt reference OMIM reference
HLA-A P30443142800
No signs/symptoms info available.