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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

GARD:4017

MESH:C537860

OMIM:304150

ORDO:198

SNOMEDCT_US_2020_09_01:59399004

UMLS_CUI:C0268353

Synonyms

EDS IX [EXACT]

Ehlers-Danlos syndrome type 9 [EXACT]

Ehlers-Danlos syndrome type IX [EXACT]

X-linked cutis laxa [EXACT]

Parent Relationships

is_a metal metabolism disorder

is_a X-linked recessive disease

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