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Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis

Disease ID: disease_node_15307

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Dbxref	MIM:300946
Subclassof	DOID_0080012, DOID_1339
Data Source	DOID
Synonyms	DBA14
Doid Label	Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Doid Description	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.
Has Material Basis In	GENO_0000149
Disease Node Id	disease_node_15307
Doid Id	DOID_0111897
Label	Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis

Outgoing r'ship SUBCLASS_OF to/from Anemia, Diamond-Blackfan(ID:disease_node_11027) (Disease)
Outgoing r'ship SUBCLASS_OF to/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)

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