loading...| Preferred Name | Occipital horn syndrome | |
| Synonyms |
Ehlers-Danlos syndrome, occipital horn type (formerly) EDS IX Ehlers-Danlos syndrome, occipital horn type Cutis laxa X-linked Cutis Laxa, X-Linked |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537860 |
|
| altLabel |
Ehlers-Danlos syndrome, occipital horn type (formerly) EDS IX Ehlers-Danlos syndrome, occipital horn type Cutis laxa X-linked Cutis Laxa, X-Linked |
|
| cui |
C0268353 |
|
| HM |
D003483 D004535 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
18 |
|
| MMR |
20190624 |
|
| notation |
C537860 |
|
| prefLabel |
Occipital horn syndrome |
|
| SC |
3 |
|
| Scope Statement |
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 |
|
| TERMUI |
T801147 T744002 T000961949 T000961950 T743999 T744001 |
|
| TH |
OMIM (2013) NLM (2019) ORD (2010) |
|
| tui |
T019 |