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Primary ciliary dyskinesia - retinitis pigmentosa
1 OMIM reference -
1 associated gene
20 connected diseases
No signs/symptoms info
Disease Type of connection
Cone rod dystrophy
Achromatopsia
Primary ciliary dyskinesia
Retinitis pigmentosa
Leber congenital amaurosis
Cornelia de Lange syndrome
Meckel syndrome
Joubert syndrome with orofaciodigital defect
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Senior-Loken syndrome
17p13.3 microduplication syndrome
Amyotrophic lateral sclerosis
Distal 17p13.3 microdeletion syndrome
Distal hereditary motor neuropathy type 7
Jeune syndrome
Miller-Dieker syndrome
Perry syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RPGR Q92834312610
No signs/symptoms info available.