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Metadata
DOID DOID:1206
Name Rett syndrome
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.
http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm, http://www.ninds.nih.gov/disorders/rett/detail_rett.htm, https://medlineplus.gov/ency/article/001536.htm
Xrefs

CSP2005:4001-0114

GARD:5696

ICD10CM:F84.2

MESH:D015518

NCI:C75488

OMIM:312750

OMIM:613454

SNOMEDCT_US_2018_03_01:68618008

UMLS_CUI:C0035372

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

cerebroatrophic hyperammonemia [EXACT]

Rett's disorder [EXACT]

Relationships

is_a pervasive developmental disorder

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