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Disease Ontology Browser
lung-brain developmental disorder (DOID:0070804)
Alliance: disease page
Synonyms: LBDD
Alt IDs: OMIM:621645
Definition: A syndrome characterized by early-onset respiratory distress, chronic hypoxemia, diffuse parenchymal lung abnormalities on chest imaging, and developmental delay, with speech and language development more severely affected, that has_material_basis_in homozygous or compound heterozygous mutations in the TMEM63B gene on chromosome 6p21.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory