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Anosmia, isolated congenital, X-linked

MedGen UID:
1794322
Concept ID:
C5562112
Disease or Syndrome
Synonym: ANOSMIA, ISOLATED CONGENITAL, X-LINKED
 
Monarch Initiative: MONDO:0100469
OMIM®: 301700

Definition

X-linked form of anosmia, isolated congenital. [from MONDO]

Clinical features

From HPO
Anosmia
MedGen UID:
1950
Concept ID:
C0003126
Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
  • Abnormality of the nervous system

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Karstensen HG, Mang Y, Fark T, Hummel T, Tommerup N
Clin Genet 2015 Sep;88(3):293-6. Epub 2014 Oct 14 doi: 10.1111/cge.12491. PMID: 25156905

Prognosis

Alkelai A, Olender T, Dode C, Shushan S, Tatarskyy P, Furman-Haran E, Boyko V, Gross-Isseroff R, Halvorsen M, Greenbaum L, Milgrom R, Yamada K, Haneishi A, Blau I, Lancet D
Eur J Hum Genet 2017 Dec;25(12):1377-1387. Epub 2017 Nov 13 doi: 10.1038/s41431-017-0014-1. PMID: 29255181Free PMC Article

Clinical prediction guides

Alkelai A, Olender T, Dode C, Shushan S, Tatarskyy P, Furman-Haran E, Boyko V, Gross-Isseroff R, Halvorsen M, Greenbaum L, Milgrom R, Yamada K, Haneishi A, Blau I, Lancet D
Eur J Hum Genet 2017 Dec;25(12):1377-1387. Epub 2017 Nov 13 doi: 10.1038/s41431-017-0014-1. PMID: 29255181Free PMC Article

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