| Metadata | |
|---|---|
| ID | DOID:0080050 |
| Name | acromesomelic dysplasia, Maroteaux type |
| Definition | An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the NPR2 gene, which encodes natriuretic peptide receptor B, on chromosome 9p13. https://en.wikipedia.org/wiki/Acromesomelic_dysplasia, http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
acromesomelic dysplasia-1 [EXACT] |
| Parent Relationships |
is_a spinal disease |
| Subclass Logical Relationships |
disease has location some vertebral column disease has location some limb has material basis in some autosomal recessive inheritance |