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amelocerebrohypohidrotic syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0009185

Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. [ Orphanet:1946 ]

Synonyms: amelocerebrohypohidrotic syndrome epilepsy-dementia-amelogenesis imperfecta syndrome Kohlschutter-Tonz syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:226750 (Orphanet:1946/e)
  • DOID:0111668 (MONDO:equivalentTo)
  • Orphanet:1946 (OMIM:226750)
  • GARD:3128 (Orphanet:1946)
  • SCTID:109478007 (MONDO:equivalentTo)
  • UMLS:C0406740 (Orphanet:1946)
  • MESH:C537213 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_1946

http://identifiers.org/mesh/C537213

https://omim.org/entry/226750

http://purl.obolibrary.org/obo/DOID_0111668

http://linkedlifedata.com/resource/umls/id/C0406740

http://identifiers.org/snomedct/109478007

has related synonym

KTZS

Kohlschutter Tonz syndrome

epilepsy, dementia, and amelogenesis imperfecta

Kohlschutter syndrome

epilepsy and Yellow teeth

epilepsy dementia amelogenesis imperfecta

KOHLSCHUTTER-Tonz syndrome

id

MONDO:0009185

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009185

Term relations