Terminology Service for NFDI4Health

Rett Syndrome

Go to external page http://purl.obolibrary.org/obo/NCIT_C75488


A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances. [ ]

Term info

Label

Rett Syndrome

Synonyms
  • Rett Syndrome
Subsets

NCIT_C90259, NCIT_C118168, NCIT_C97150, NCIT_C116977

Contributing Source

CTRP, NICHD

Display Name

Rett Syndrome

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C97179

Legacy Concept Name

Rett_Syndrome

NICHD Hierarchy Term

Rett Syndrome

Preferred Name

Rett Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0035372

code

C75488