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Miller-Dieker lissencephaly syndrome

^ http://purl.obolibrary.org/obo/DOID_0060469


A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. [ url:https://www.ncbi.nlm.nih.gov/pubmed/21239872 url:http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome url:https://en.wikipedia.org/wiki/Miller-Dieker_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/9473821 ]

Synonyms: Miller-Dieker syndrome, MDS

Term info

database cross reference
  • OMIM:247200
  • UMLS_CUI:C0265219
  • NCI:C124852
  • ICD10CM:Q93.88
  • SNOMEDCT_US_2018_03_01:43849007
  • MESH:D054221
  • ORDO:531
Subsets

DO_rare_slim, NCIthesaurus

created by

elvira

creation date

2015-11-17T16:22:00Z

has obo namespace

disease_ontology

id

DOID:0060469

Term relations

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