Rett Syndrome
Disease ID: disease_node_8346
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| Dbxref | GARD:5696, ICD10CM:F84.2, MESH:D015518, MIM:312750, MIM:613454, NCI:C75488, SNOMEDCT_US_2023_03_01:192583003, UMLS_CUI:C0035372 |
|---|---|
| Subclassof | DOID_0060040 |
| Data Source | DOID, MESH |
| Synonyms | Rett's disorder, cerebroatrophic hyperammonemia |
| Mesh Id | D015518 |
| Mesh Label | Rett Syndrome |
| Mesh Subclassof | D038901 |
| Doid Label | Rett syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_8346 |
| Doid Id | DOID_1206 |
| Label | Rett Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Pervasive Developmental Disorder(ID:disease_node_15892) (Disease)