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Ontology Browser

Term:
autosomal recessive dyskeratosis congenita 1 (DOID:0070015)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
autosomal recessive dyskeratosis congenita 1  
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of NOLA3 on chromosome 15q14. (DO)
autosomal recessive dyskeratosis congenita 2  
autosomal recessive dyskeratosis congenita 3  
autosomal recessive dyskeratosis congenita 4  
autosomal recessive dyskeratosis congenita 5  
autosomal recessive dyskeratosis congenita 6  
Autosomal Recessive Dyskeratosis Congenita 7  

Synonyms
Exact Synonyms: DKCB1
Primary IDs: OMIM:224230
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17507419

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.