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AREDYLD syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008812

AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. [ Orphanet:1133 ]

Term info

database cross reference
  • SCTID:237610008 (MONDO:equivalentTo)
  • Orphanet:1133 (OMIM:207780)
  • OMIM:207780 (Orphanet:1133/e)
  • ICD9:753.3 (MONDO:relatedTo)
  • UMLS:C0342280 (Orphanet:1133/e)
  • GARD:0008509 (MONDO:equivalentTo)
  • MESH:C537427 (Orphanet:1133/e)
Subsets

ordo_malformation_syndrome

abbreviation
AREDYLD [ OMIM:207780 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5723

definition

AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0342280, http://identifiers.org/snomedct/237610008, http://purl.obolibrary.org/obo/Orphanet_1133, https://omim.org/entry/207780, http://identifiers.org/mesh/C537427

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005015

has exact synonym

acrorenal defect-ectodermal dysplasia-diabetes syndrome

has related synonym

acral renal ectodermal dysplasia lipoatrophic diabetes, AREDYLD, acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes

id

MONDO:0008812

Term relations