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camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
Disease Summary
Associated Targets ()
Mondo Description Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
Mondo Term and Equivalent IDs
MONDO:0011262: camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
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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.
GARD:0000216
MESH:C535876
OMIM:602612
Orphanet:1323
SCTID:715986009
UMLS:C1865133
MONDO:0011262
High level summary of knowledge for a disease, including descriptions and datasource references.