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Rett syndrome

^ http://purl.obolibrary.org/obo/DOID_1206


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. [ url:https://medlineplus.gov/ency/article/001536.htm url:http://www.ninds.nih.gov/disorders/rett/detail_rett.htm url:http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm ]

Synonyms: Rett's disorder, cerebroatrophic hyperammonemia

Term info

database cross reference
  • UMLS_CUI:C0035372
  • ICD10CM:F84.2
  • OMIM:613454
  • CSP2005:4001-0114
  • OMIM:312750
  • GARD:5696
  • NCI:C75488
  • MESH:D015518
  • SNOMEDCT_US_2018_03_01:68618008
Subsets

DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:1206

Term relations