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auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Disease Summary
Associated Targets ()
Mondo Description The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities.
Mondo Term and Equivalent IDs
MONDO:0019178: auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities 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:77300
UMLS:CN205748
MONDO:0019178
High level summary of knowledge for a disease, including descriptions and datasource references.