FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term acromesomelic dysplasia, Maroteaux type ID (Ontology) DOID:0080050 (Human Disease)
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.
Also Known As "acromesomelic dysplasia-1"
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 Genes
 acromesomelic dysplasia, Maroteaux type       5
 for disease ribbon | acromesomelic dysplasia, Maroteaux type       5
 model of | acromesomelic dysplasia, Maroteaux type       5
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
bone disease                     |
 |__spinal disease_______________|
osteochondrodysplasia            |
 |__acromesomelic dysplasia______|
                                 acromesomelic dysplasia, Maroteaux type  5 rec.
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Is a autosomal recessive disease
spinal disease
acromesomelic dysplasia
Part of
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Synonyms
  • "acromesomelic dysplasia-1" EXACT
Secondary IDs
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GARD:507
MESH:C535661
MIM:602875
ORDO:40