Visualize Submit Comment
Metadata
ID DOID:0111897
Name Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Definition A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22.
https://pubmed.ncbi.nlm.nih.gov/24942156/, https://pubmed.ncbi.nlm.nih.gov/11424144/
Xrefs

MIM:300946

Synonyms

DBA14 [EXACT]

Parent Relationships

is_a Diamond-Blackfan anemia

is_a X-linked recessive disease

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

Add an item to the term tracker