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ankyloblepharon filiforme-imperforate anus syndrome
Disease Summary
Associated Targets ()
Mondo Description An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
Mondo Term and Equivalent IDs
MONDO:0015201: ankyloblepharon filiforme-imperforate anus syndrome
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:1074
UMLS:CN197555
MONDO:0015201
High level summary of knowledge for a disease, including descriptions and datasource references.