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autosomal recessive amelia
Disease Summary
Associated Targets ()
Mondo Description Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.
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.
MESH:C563338
OMIM:601360
Orphanet:1027
SCTID:726735000
UMLS:C1832432
MONDO:0011054
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.