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BioAssay Ontology
Last uploaded:
March 20, 2025
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| 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].
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| Synonyms |
cerebroatrophic hyperammonemia
Rett's disorder
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label | Rett syndrome
|
|---|---|
| comment | OMIM mapping confirmed by DO. [SN].
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| prefLabel | Rett syndrome
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| has cross-reference |
UMLS_CUI:C0035372
OMIM:613454
MESH:D015518
SNOMEDCT_US_2020_03_01:192583003
OMIM:312750
ICD10CM:F84.2
GARD:5696
NCI:C75488
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| notation | DOID:1206
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| in_subset | |
| id | DOID:1206
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| has_obo_namespace | disease_ontology
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| textual 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.
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| subClassOf | |
| imported from | |
| type | |
| has exact synonym |
cerebroatrophic hyperammonemia
Rett's disorder
|
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