MeSH Browser

MeSH Supplementary: Occipital horn syndrome
Unique ID: C537860
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537860
Entry Term(s): Cutis Laxa, X-Linked; Cutis laxa X-linked; EDS IX; Ehlers-Danlos syndrome, occipital horn type; Ehlers-Danlos syndrome, occipital horn type (formerly)
Registry Number: 0
Heading Mapped to: *Cutis Laxa; *Ehlers-Danlos Syndrome
Frequency: 18
Note: A rare X-linked recessive connective tissue disorder characterized by hyperelastic and bruisable skin, HERNIAS, bladder diverticula, hyperextensible joints, varicosities, and multiple skeletal abnormalities. The disorder is sometimes accompanied by mild neurologic impairment, and bony abnormalities of the OCCIPITAL BONE are a common feature. Mutations in the ATP7A gene have been identified. OMIM: 304150
Date of Entry: 2010/08/25
Revision Date: 2019/06/24

Concept UI: M0532321
Registry Number: 0
Terms: Occipital horn syndrome Preferred Term
Term UI T743999
Date02/24/2009
LexicalTag NON
ThesaurusID; Cutis Laxa, X-Linked
Term UI T801147
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Cutis laxa X-linked
Term UI T744001
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Ehlers-Danlos syndrome, occipital horn type
Term UI T000961950
Date06/24/2019
LexicalTag NON
ThesaurusID NLM (2019); Ehlers-Danlos syndrome, occipital horn type (formerly)
Term UI T744002
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); EDS IX
Term UI T000961949
Date06/24/2019
LexicalTag NON
ThesaurusID NLM (2019)

Occipital horn syndrome MeSH Supplementary Concept Data 2023