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Kleefstra syndrome 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0027407

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3. [ DOID:0070075 ]

Synonyms: Kleefstra syndrome 1

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:724207001 (MONDO:equivalentTo)
  • NCIT:C129976 (MONDO:equivalentTo)
  • MESH:C563043 (MONDO:equivalentTo)
  • DOID:0070075 (MONDO:equivalentObsolete)
  • DOID:0060352 (MONDO:equivalentTo)
  • MEDGEN:208639 (MONDO:equivalentTo)
  • OMIM:610253 (MONDO:equivalentTo)
  • UMLS:C0795833 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, nord_rare

exactMatch

http://linkedlifedata.com/resource/umls/id/C0795833

http://identifiers.org/mesh/C563043

http://identifiers.org/snomedct/724207001

http://identifiers.org/medgen/208639

http://purl.obolibrary.org/obo/NCIT_C129976

https://omim.org/entry/610253

http://purl.obolibrary.org/obo/DOID_0060352

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015802

has broad synonym

chromosome 9q34.3 deletion syndrome

9q-syndrome

Kleefstra syndrome

KLEFS1

id

MONDO:0027407

Term relations

Subclass of: