| Metadata | |
|---|---|
| ID | DOID:0111272 |
| Name | occipital horn syndrome |
| Definition | A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. https://www.ncbi.nlm.nih.gov/pubmed/7842019, https://www.ncbi.nlm.nih.gov/pubmed/7887410 |
| Xrefs |
SNOMEDCT_US_2023_03_01:59399004 |
| Subsets |
DO_rare_slim |
| Synonyms |
EDS IX [EXACT] Ehlers-Danlos syndrome type 9 [EXACT] Ehlers-Danlos syndrome type IX [EXACT] X-linked cutis laxa [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |