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acrodermatitis enteropathica

^ http://purl.obolibrary.org/obo/MONDO_0008713

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. [ Orphanet:37 ]

Term info

database cross reference
  • GARD:0005723 (MONDO:equivalentTo)
  • SCTID:37702000 (MONDO:equivalentTo)
  • OMIM:201100 (Orphanet:37/e)
  • NCIT:C128802 (MONDO:equivalentTo)
  • MESH:C538178 (MONDO:equivalentTo)
  • GARD:0006343 (MONDO:equivalentTo)
  • UMLS:C0221036 (Orphanet:37)
  • ICD9:686.8 (MONDO:relatedTo)
  • Orphanet:37 (OMIM:201100)
  • DOID:0050605 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
AEZ [ Orphanet:37 MONDO:Lexical OMIM:201100 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5682

definition

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050605, http://identifiers.org/snomedct/37702000, http://linkedlifedata.com/resource/umls/id/C0221036, http://purl.obolibrary.org/obo/Orphanet_37, http://identifiers.org/mesh/C538178, http://purl.obolibrary.org/obo/NCIT_C128802, https://omim.org/entry/201100

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005093, http://purl.obolibrary.org/obo/MONDO_0005020

has alternative id

MONDO:0023070

has exact synonym

acrodermatitis enteropathica, zinc deficiency type, AEZ, inherited zinc deficiency, acrodermatitis enteropathica

has related synonym

acrodermatitis enteropathica, zinc-deficiency type, Danbolt-Cross syndrome, ae, acrodermatitis enteropathica zinc deficiency type, Brandt syndrome, enteropathica

id

MONDO:0008713

seeAlso

https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica, https://rarediseases.info.nih.gov/diseases/6343/enteropathica