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short stature with microcephaly and distinctive facies
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description A disease characterized by dwarfism, microcephaly, and distinctive facial dysmorphism involving frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge.
Mondo Term and Equivalent IDs
MONDO:0014347: short stature with microcephaly and distinctive facies
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615789
UMLS:C4014339
MONDO:0014347
High level summary of knowledge for a disease, including descriptions and datasource references.