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Repository for lectin-assisted multimodality data
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MIRAGE
acromesomelic dysplasia, Maroteaux type
Summary
- Synonym
-
- acromesomelic dysplasia-1
- 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.
- Super Class
- acromesomelic dysplasia autosomal recessive disease spinal disease
External Links
- Disease Ontology
- DOID:0080050
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20594 | Atrial natriuretic peptide receptor 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6VVW5 | Atrial natriuretic peptide receptor 2 |
