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| Term | craniolenticulosutural dysplasia | ID (Ontology) | DOID:0070307 (Human Disease) |
| Definition | A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. | ||
| Also Known As | "Boyadjiev-Jabs Syndrome" ; "cranio-lenticulo-sutural dysplasia, CLSD" | ||
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| DO.org | |||
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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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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| craniolenticulosutural dysplasia 1 rec. |
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| Is a |
autosomal recessive disease syndrome |
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External Crossreferences & Linkouts
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MESH:C564332 MIM:607812 ORDO:50814 SNOMEDCT_US_2023_03_01:725100001 UMLS_CUI:C1843042 |
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