Search Ontology:
Human Disease
acromesomelic dysplasia, Maroteaux type
- Term ID
- DOID:0080050
- Synonyms
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- 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. (2)
- References
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- GARD:507
- MESH:C535661
- MIM:602875
- ORDO:40
- Ontology
- Human Disease ( DOID:0080050 )
- is a type of
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