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hair defect with photosensitivity and intellectual disability syndrome
Disease Summary
Associated Targets ()
Mondo Description Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.
Mondo Term and Equivalent IDs
MONDO:0022316: hair defect with photosensitivity and intellectual disability 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.
SCTID:721007005
MONDO:0022316
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