Yao syndrome - CISMeF

Preferred Label : Yao syndrome;

Symbol : YAOS;

CISMeF acronym : YAOS;

Type : Phenotype, molecular basis known;

Inheritance : Multifactorial;

Molecular basis : Susceptibility conferred by mutation in the nucleotide-binding oligomerization domain protein-2 gene (NOD2, 605956.0001);

Laboratory abnormalities : Elevated erythrocyte sedimentation rate (in some patients); Elevated C-reactive protein (in some patients);

Prefixed ID : #617321;

Details

Origin ID

617321;

UMLS CUI

C4310620;

Automatic exact mappings (from CISMeF team)
- Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder) [SNOMED CT concept]
Genes related to phenotype
- Nucleotide-binding oligomerization domain protein 2 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Asthma [HPO term]
- Chest pain [HPO term]
- Diarrhea [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Inflammatory abnormality of the skin [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Multifactorial inheritance [HPO term]
- Myalgia [HPO term]
- Nephrolithiasis [HPO term]
- Oral ulcer [HPO term]
- Pericarditis [HPO term]
- Pleuritis [HPO term]
- Recurrent fever [HPO term]
- Skin rash [HPO term]
- Ventricular hypertrophy [HPO term]
- Weight loss [HPO term]
- Xerostomia [HPO term]
Not associated HPO term(s)
- Uveitis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nucleotide binding oligomerization domain containing 2-associated autoinflammatory disease (disorder) [SNOMED CT concept]
- Yao syndrome [MedDRA Preferred Term]
- Yao syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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