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DO Term : acromesomelic dysplasia, Maroteaux type [DOID:0080050] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
MESH:C535661,
ORDO:40,
acromesomelic dysplasia-1,
602875,
GARD:507,
OMIM:602875

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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