OBO ID: DOID:0081079
Term Name: ectodermal dysplasia and immunodeficiency 2 Search Ontology:
Synonyms:
Definition: An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. https://pubmed.ncbi.nlm.nih.gov/28597146/
References:
Ontology: Human Disease   ( DOID:0081079 )
Relationships
is a type of:
OTHER ectodermal dysplasia and immunodeficiency 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NFKBIA Ectodermal dysplasia and immunodeficiency 2 612132
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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