Sarcoidosis, susceptibility to, 2

Preferred Label : Sarcoidosis, susceptibility to, 2;

Symbol : SS2;

CISMeF acronym : SS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the butyrophilin-like protein 2 gene (BTNL2, 606000.0001);

Laboratory abnormalities : Noncaseating granulomas on biopsy; Abnormalities of calcium metabolism;

Prefixed ID : #612387;

Details

Origin ID

612387;

UMLS CUI

C2676468;

Automatic exact mappings (from CISMeF team)
- BTNL2 wt Allele [NCIt concept]
Genes related to phenotype
- Butyrophilin-like protein 2 [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chest pain [HPO term]
- Clubbing [HPO term]
- Dyspnea [HPO term]
- Elevated bronchoalveolar lavage fluid lymphocyte proportion [HPO term]
- Emphysema [HPO term]
- Erythema nodosum [HPO term]
- Facial palsy [HPO term]
- Hemoptysis [HPO term]
- Hepatomegaly [HPO term]
- Hypoxemia [HPO term]
- Mediastinal lymphadenopathy [HPO term]
- Pleural effusion [HPO term]
- Pneumothorax [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary fibrosis [HPO term]
- Pulmonary infiltrates [HPO term]
- Restrictive ventilatory defect [HPO term]
- Splenomegaly [HPO term]
- Uveitis [HPO term]
ORDO concept(s)
- Sarcoidosis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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