Infantile-Onset Multisystem Autoimmune Disease 1

Preferred Label : Infantile-Onset Multisystem Autoimmune Disease 1;

NCIt synonyms : ADMIO1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the STAT3 gene, encoding signal transducer and activator of transcription 3. It is characterized by variable features along a spectrum of autoimmune disorders affecting multiple organs. Common manifestations may include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis.;

NCI Metathesaurus CUI : CL583648;

Details

Origin ID

C157123;

UMLS CUI

C4014795;

Currated CISMeF NLP mapping
- Autoimmune disease, multisystem, infantile-onset, 1 [OMIM Phenotype]
- Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune disease, multisystem, infantile-onset, 1 [OMIM Phenotype]
- Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- STAT3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients