| Metadata | |
|---|---|
| ID | DOID:1206 |
| Name | Rett syndrome |
| Definition | A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm, http://www.ninds.nih.gov/disorders/rett/detail_rett.htm, https://medlineplus.gov/ency/article/001536.htm |
| Xrefs |
SNOMEDCT_US_2023_03_01:192583003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
cerebroatrophic hyperammonemia [EXACT] Rett's disorder [EXACT] |
| Parent Relationships |