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| General Information | |||
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| Term | Hajdu-Cheney syndrome | ID (Ontology) | DOID:2736 (Human Disease) |
| Definition | A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. | ||
| Also Known As | "acroosteolysis with osteoporosis and changes in skull and mandible" ; "arthrodentoosteodysplasia" ; "Cheney syndrome" (for all, see Synonyms field below) | ||
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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 dominant disease__ connective tissue disease | |__bone disease________________| Hajdu-Cheney syndrome 1 rec. |
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| Is a |
autosomal dominant disease bone disease |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:508 MESH:D030981 MESH:D031845 MIM:102500 NCI:C35545 NCI:C84745 SNOMEDCT_US_2023_03_01:63122002 UMLS_CUI:C0917715 UMLS_CUI:C0917990 |
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