| Metadata | |
|---|---|
| ID | DOID:0070804 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070804 Copy |
| Name | lung-brain developmental disorder |
| 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. https://pubmed.ncbi.nlm.nih.gov/42259295/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621645 |
| Subsets |
DO_rare_slim |
| Synonyms |
LBDD [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |