{
    "disease_id": "DOID:0080050",
    "recommended_name": {
        "id": "DOID:0080050",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080050",
        "name": "acromesomelic dysplasia, Maroteaux type",
        "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": [
        {
            "id": "DOID:0080050",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080050",
            "name": "acromesomelic dysplasia-1",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia 1, Maroteaux type",
            "description": "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type."
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia 1, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia, Maroteaux type",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "AMDM",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dwarfism Maroteux type",
            "description": ""
        },
        {
            "id": "MONDO:0011275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "name": "acromesomelic dysplasia Maroteaux type",
            "description": ""
        },
        {
            "id": "MIM:602875",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602875",
            "name": "Acromesomelic dysplasia 1",
            "description": "Acromesomelic dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080050"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080050",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080050",
            "categories": []
        },
        {
            "id": "MONDO:0011275",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011275",
            "categories": []
        },
        {
            "id": "MIM:602875",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602875",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B2U7-1",
            "uniprot_ac": "A0A8M3B2U7",
            "uniprot_id": "A0A8M3B2U7_DANRE",
            "refseq_ac": "XP_009300100",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "npr2",
                    "type": "recommended"
                },
                {
                    "name": "npr2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B2U7-1",
            "evidence": [
                {
                    "id": "0080050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VVW5-1",
            "uniprot_ac": "Q6VVW5",
            "uniprot_id": "ANPRB_MOUSE",
            "refseq_ac": "NP_776149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atrial natriuretic peptide receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "ANP-B",
                    "type": "synonym"
                },
                {
                    "name": "ANPR-B",
                    "type": "synonym"
                },
                {
                    "name": "Atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "NPR-B",
                    "type": "synonym"
                },
                {
                    "name": "Nppb receptor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-B",
                    "type": "synonym"
                },
                {
                    "name": "natriuretic peptide receptor B type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npr2",
                    "type": "recommended"
                },
                {
                    "name": "GC-B2",
                    "type": "synonym"
                },
                {
                    "name": "GC-B3",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "Npr2",
                    "type": "synonym"
                },
                {
                    "name": "cn",
                    "type": "synonym"
                },
                {
                    "name": "mNPR-B",
                    "type": "synonym"
                },
                {
                    "name": "pwe",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VVW5-1",
            "evidence": [
                {
                    "id": "0080050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20594-1",
            "uniprot_ac": "P20594",
            "uniprot_id": "ANPRB_HUMAN",
            "refseq_ac": "NP_003986",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atrial natriuretic peptide receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "ANP-B",
                    "type": "synonym"
                },
                {
                    "name": "ANPR-B",
                    "type": "synonym"
                },
                {
                    "name": "Atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "NPR-B",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide B-type receptor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase 2B",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPR2",
                    "type": "recommended"
                },
                {
                    "name": "AMDM",
                    "type": "synonym"
                },
                {
                    "name": "ANPRB",
                    "type": "synonym"
                },
                {
                    "name": "ANPb",
                    "type": "synonym"
                },
                {
                    "name": "ECDM",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "GCB",
                    "type": "synonym"
                },
                {
                    "name": "GUC2B",
                    "type": "synonym"
                },
                {
                    "name": "GUCY2B",
                    "type": "synonym"
                },
                {
                    "name": "NPR2",
                    "type": "synonym"
                },
                {
                    "name": "NPRBi",
                    "type": "synonym"
                },
                {
                    "name": "NPRB",
                    "type": "synonym"
                },
                {
                    "name": "SNSK",
                    "type": "synonym"
                }
            ],
            "record_id": "P20594-1",
            "evidence": [
                {
                    "id": "602875",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602875"
                },
                {
                    "id": "0080050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16067-1",
            "uniprot_ac": "P16067",
            "uniprot_id": "ANPRB_RAT",
            "refseq_ac": "NP_446290",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atrial natriuretic peptide receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "ANP-B",
                    "type": "synonym"
                },
                {
                    "name": "ANPR-B",
                    "type": "synonym"
                },
                {
                    "name": "ANPRB",
                    "type": "synonym"
                },
                {
                    "name": "Atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "NPR-B",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide B-type receptor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor B",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)",
                    "type": "synonym"
                },
                {
                    "name": "natriuretic peptide receptor-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npr2",
                    "type": "recommended"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "NPR-B",
                    "type": "synonym"
                },
                {
                    "name": "Npr2",
                    "type": "synonym"
                }
            ],
            "record_id": "P16067-1",
            "evidence": [
                {
                    "id": "0080050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF17-1",
            "uniprot_ac": "Q9VF17",
            "uniprot_id": "Q9VF17_DROME",
            "refseq_ac": "NP_001287342",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG31183-PB",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase at 89A",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG11846",
                    "type": "recommended"
                },
                {
                    "name": "CG11846",
                    "type": "synonym"
                },
                {
                    "name": "CG31183",
                    "type": "synonym"
                },
                {
                    "name": "CG4224",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31183",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31183",
                    "type": "synonym"
                },
                {
                    "name": "DrGC-2",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0038379",
                    "type": "synonym"
                },
                {
                    "name": "GYC",
                    "type": "synonym"
                },
                {
                    "name": "Gyc89A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF17-1",
            "evidence": [
                {
                    "id": "0080050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MLX0-1",
            "uniprot_ac": "Q8MLX0",
            "uniprot_id": "Q8MLX0_DROME",
            "refseq_ac": "NP_726013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG3216-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3216",
                    "type": "recommended"
                },
                {
                    "name": "CG3216",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3216",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3216",
                    "type": "synonym"
                },
                {
                    "name": "GYC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MLX0-1",
            "evidence": [
                {
                    "id": "0080050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080050"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080050"
}