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| Term | desmosterolosis | ID (Ontology) | DOID:0070654 (Human Disease) |
| Definition | A lipid metabolism disorder characterized by multiple congenital anomalies, developmental delay, intellectual disability, and elevated levels of the cholesterol precursor desmosterol that has_material_basis_in homozygous or compound heterozygous mutation in the DHCR24 gene on chromosome 1p32. | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal recessive disease________ intellectual disability | |__syndromic intellectual disability__| inherited metabolic disorder | |__lipid metabolism disorder__________| desmosterolosis |
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| Is a |
autosomal recessive disease syndromic intellectual disability lipid metabolism disorder |
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External Crossreferences & Linkouts
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GARD:10283 ICD10CM:Q87.89 MESH:C566555 MIM:602398 ORDO:35107 SNOMEDCT_US_2025_05_01:709490002 UMLS_CUI:C1865596 |
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