Link to this page
Human Disease Ontology
Last uploaded:
March 3, 2025
Jump to:
| Id | http://purl.obolibrary.org/obo/DOID_1206
http://purl.obolibrary.org/obo/DOID_1206
|
|---|---|
| Preferred Name | Rett syndrome |
| Definitions |
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].
|
| Synonyms |
cerebroatrophic hyperammonemia
Rett's disorder
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label | Rett syndrome
|
| comment | OMIM mapping confirmed by DO. [SN].
|
| prefLabel | Rett syndrome
|
| database_cross_reference |
UMLS_CUI:C0035372
SNOMEDCT_US_2023_03_01:192583003
MESH:D015518
ICD10CM:F84.2
GARD:5696
MIM:312750
MIM:613454
NCI:C75488
See more
See less
|
| notation | DOID:1206
|
| in_subset | |
| id | DOID:1206
|
| has_obo_namespace | disease_ontology
|
| subClassOf | |
| type | |
| has exact synonym |
cerebroatrophic hyperammonemia
Rett's disorder
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |