Link to this page
Pediatric Terminology
Last uploaded:
January 25, 2013
Jump to:
| Id | http://www.owl-ontologies.com/Ontology1358660052.owl#Rett_Syndrome
http://www.owl-ontologies.com/Ontology1358660052.owl#Rett_Syndrome
|
|---|---|
| Preferred Name | Rett_Syndrome |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | Rett_Syndrome
|
|---|---|
| SYN | |
| Subset_Association2 | NICHD Neurological Development Terminology
|
| NCI_Definition | A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.
|
| prefixIRI | Rett_Syndrome
|
| ID | C75488
|
| NICHD_Definition | _
|
| subClassOf | |
| NCI_PT | Rett Syndrome
|
| type | |
| Subset_Association1 | NICHD Pediatric Terminology
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |