OBO ID: DOID:1206
Term Name: Rett syndrome Search Ontology:
Synonyms:
  • cerebroatrophic hyperammonemia
  • Rett's disorder
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. (3)
References:
Ontology: Human Disease   (DOID:1206)
Relationships
is a type of:
OTHER Rett syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FOXG1 Rett syndrome, congenital variant 613454
MECP2 Rett syndrome, atypical 312750
Rett syndrome 312750
Rett syndrome, preserved speech variant 312750
PHENOTYPE No data available

CITATIONS (6)