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Seckel syndrome 1

^ http://purl.obolibrary.org/obo/MONDO_0008869

Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • UMLS:CN033164 (MONDO:ncbi_mim2gene_medline)
  • DOID:0070007 (MONDO:equivalentTo)
  • OMIM:210600 (MONDO:equivalentTo)
  • UMLS:C1837590 (MONDO:equivalentTo)
abbreviation
SCKL1 [ DOID:0070007 MONDO:Lexical OMIM:210600 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

definition

Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene.

exactMatch

https://omim.org/entry/210600, http://purl.obolibrary.org/obo/DOID_0070007, http://linkedlifedata.com/resource/umls/id/CN033164, http://linkedlifedata.com/resource/umls/id/C1837590

has exact synonym

Seckel syndrome type 1, ATR Seckel syndrome, SCKL1, microcephalic primordial dwarfism I, Seckel syndrome 1, Seckel syndrome 3, Seckel syndrome caused by mutation in ATR

has related synonym

Bird-headed dwarfism, Seckel-type dwarfism, Sckl, nanocephalic dwarfism, microcephalic primordial dwarfism 1

id

MONDO:0008869

Term relations

Subclass of: