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syndromic orbital border hypoplasia - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:syndromic orbital border hypoplasia
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Accession:EFO:MONDO:0008138 term browser browse the term
Definition:Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.
Synonyms:exact_synonym: Orphanet:98606;   Urrets-Zavalia syndrome;   http://identifiers.org/medgen/318965;   http://identifiers.org/mesh/C563490;   http://identifiers.org/snomedct/717337001;   http://linkedlifedata.com/resource/umls/id/C1833795;   https://omim.org/entry/165600
 related_synonym: orbital margin, hypoplasia OF
 alt_id: MONDO:0008138
 xref: GARD:16858;   MEDGEN:318965;   MESH:C563490;   MIM:165600;   ORDO:98606;   SCTID:717337001;   UMLS:C1833795

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