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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ankyloblepharon filiforme-imperforate anus syndrome
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Accession:EFO:MONDO:0015201 term browser browse the term
Definition: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.
Synonyms:exact_synonym: Aughton-Hufnagle syndrome
 related_synonym: ankyloblepharon filiforme adnatum-imperforate anus syndrome
 alt_id: MONDO:0015201
 xref: GARD:697;   MEDGEN:1666000;   ORDO:1074;   UMLS:C4751231

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            ankyloblepharon filiforme-imperforate anus syndrome 0
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  experimental factor 0
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          disorder of development or morphogenesis 0
            developmental defect during embryogenesis 0
              ankyloblepharon filiforme-imperforate anus syndrome 0
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