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DO Term : Rett syndrome [DOID:1206] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • cerebroatrophic hyperammonemia,
  • OMIM:312750,
  • Rett's disorder,
  • GARD:5696,
  • NCI:C75488,
  • 312750,
  • ICD10CM:F84.2,
  • SNOMEDCT_US_2023_03_01:192583003,
  • MESH:D015518,
  • OMIM:613454,
  • 613454,
  • UMLS_CUI:C0035372
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents