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Stimmler syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008743

Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. [ Orphanet:3199 ]

Term info

database cross reference
  • UMLS:C1859965 (OMIM:202900)
  • SCTID:733072002 (MONDO:equivalentTo)
  • OMIM:202900 (Orphanet:3199/e)
  • GARD:0005026 (MONDO:equivalentTo)
  • Orphanet:3199 (OMIM:202900)
  • MESH:C565968 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.

exactMatch

http://identifiers.org/snomedct/733072002, http://identifiers.org/mesh/C565968, http://linkedlifedata.com/resource/umls/id/C1859965, https://omim.org/entry/202900, http://purl.obolibrary.org/obo/Orphanet_3199

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Stimmler syndrome

has related synonym

Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus, ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus

id

MONDO:0008743