{
    "disease_id": "DOID:0090032",
    "recommended_name": {
        "id": "DOID:0090032",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090032",
        "name": "Silverman-Handmaker type dyssegmental dysplasia",
        "description": "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "Silverman-Handmaker type dyssegmental dysplasia",
            "description": "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities."
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type",
            "description": ""
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "DDSH",
            "description": ""
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "dyssegmental dwarfism Silverman-Handmaker type",
            "description": ""
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "dyssegmental dysplasia Silverman-Handmaker type",
            "description": ""
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "dyssegmental dysplasia, Silverman-Handmaker type",
            "description": ""
        },
        {
            "id": "MIM:224410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224410",
            "name": "Dyssegmental dysplasia Silverman-Handmaker type",
            "description": "Dyssegmental dysplasia Silverman-Handmaker type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090032"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090032",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090032",
            "categories": []
        },
        {
            "id": "MONDO:0009140",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "categories": []
        },
        {
            "id": "MIM:224410",
            "database": "MIM",
            "url": "https://www.omim.org/entry/224410",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PWV8-1",
            "uniprot_ac": "A0A8M9PWV8",
            "uniprot_id": "A0A8M9PWV8_DANRE",
            "refseq_ac": "XP_021325650",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Basement membrane-specific heparan sulfate proteoglycan core protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "basement membrane-specific heparan sulfate proteoglycan core protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hspg2",
                    "type": "recommended"
                },
                {
                    "name": "hspg2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PWV8-1",
            "evidence": [
                {
                    "id": "0090032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05793-1",
            "uniprot_ac": "Q05793",
            "uniprot_id": "PGBM_MOUSE",
            "refseq_ac": "NP_032331",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Basement membrane-specific heparan sulfate proteoglycan core protein",
                    "type": "recommended"
                },
                {
                    "name": "HSPG",
                    "type": "synonym"
                },
                {
                    "name": "Perlecan",
                    "type": "synonym"
                },
                {
                    "name": "basement membrane-specific heparan sulfate proteoglycan core protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "basement membrane-specific heparan sulfate proteoglycan core protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspg2",
                    "type": "recommended"
                },
                {
                    "name": "HSPG",
                    "type": "synonym"
                },
                {
                    "name": "Hspg2",
                    "type": "synonym"
                },
                {
                    "name": "Pcn",
                    "type": "synonym"
                },
                {
                    "name": "Plc",
                    "type": "synonym"
                },
                {
                    "name": "per",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05793-1",
            "evidence": [
                {
                    "id": "0090032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98160-1",
            "uniprot_ac": "P98160",
            "uniprot_id": "PGBM_HUMAN",
            "refseq_ac": "NP_001278789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Basement membrane-specific heparan sulfate proteoglycan core protein",
                    "type": "recommended"
                },
                {
                    "name": "HSPG",
                    "type": "synonym"
                },
                {
                    "name": "PLC",
                    "type": "synonym"
                },
                {
                    "name": "Perlecan",
                    "type": "synonym"
                },
                {
                    "name": "basement membrane-specific heparan sulfate proteoglycan core protein isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "basement membrane-specific heparan sulfate proteoglycan core protein",
                    "type": "synonym"
                },
                {
                    "name": "endorepellin (domain V region)",
                    "type": "synonym"
                },
                {
                    "name": "perlecan proteoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSPG2",
                    "type": "recommended"
                },
                {
                    "name": "HSPG2",
                    "type": "synonym"
                },
                {
                    "name": "HSPG",
                    "type": "synonym"
                },
                {
                    "name": "PLC",
                    "type": "synonym"
                },
                {
                    "name": "PRCAN",
                    "type": "synonym"
                },
                {
                    "name": "SJA",
                    "type": "synonym"
                },
                {
                    "name": "SJS1",
                    "type": "synonym"
                },
                {
                    "name": "SJS",
                    "type": "synonym"
                }
            ],
            "record_id": "P98160-1",
            "evidence": [
                {
                    "id": "224410",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/224410"
                },
                {
                    "id": "0090032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ASH2-1",
            "uniprot_ac": "A0A8I6ASH2",
            "uniprot_id": "A0A8I6ASH2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Basement membrane-specific heparan sulfate proteoglycan core protein",
                    "type": "recommended"
                },
                {
                    "name": "Perlecan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hspg2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6ASH2-1",
            "evidence": [
                {
                    "id": "0090032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ACD4DAU3-1",
            "uniprot_ac": "A0ACD4DAU3",
            "uniprot_id": "A0ACD4DAU3_DROME",
            "refseq_ac": "NP_001401049",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33950-PBD",
                    "type": "synonym"
                },
                {
                    "name": "Terribly reduced optic lobes, isoform BD",
                    "type": "synonym"
                },
                {
                    "name": "Trol/perlecan",
                    "type": "synonym"
                },
                {
                    "name": "dPerlecan",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0019",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0021",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0023",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0181",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0211",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0271",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0374",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0412",
                    "type": "synonym"
                },
                {
                    "name": "mRNA-like ncRNA in embryogenesis 7",
                    "type": "synonym"
                },
                {
                    "name": "terribly reduced optic lobes, isoform BD",
                    "type": "synonym"
                },
                {
                    "name": "terribly reduced optic lobes",
                    "type": "synonym"
                },
                {
                    "name": "trol-PBD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trol",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GM02481",
                    "type": "synonym"
                },
                {
                    "name": "CG12497",
                    "type": "synonym"
                },
                {
                    "name": "CG33675",
                    "type": "synonym"
                },
                {
                    "name": "CG33950",
                    "type": "synonym"
                },
                {
                    "name": "CG7981",
                    "type": "synonym"
                },
                {
                    "name": "CT23996",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33950",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33950",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR25B3.10",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR25B3.11",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR25B3.1",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACR25B3.2",
                    "type": "synonym"
                },
                {
                    "name": "GC7891",
                    "type": "synonym"
                },
                {
                    "name": "MRE7",
                    "type": "synonym"
                },
                {
                    "name": "Pcan",
                    "type": "synonym"
                },
                {
                    "name": "Pcn",
                    "type": "synonym"
                },
                {
                    "name": "Perlecan",
                    "type": "synonym"
                },
                {
                    "name": "Perl",
                    "type": "synonym"
                },
                {
                    "name": "TROL",
                    "type": "synonym"
                },
                {
                    "name": "Trol-A",
                    "type": "synonym"
                },
                {
                    "name": "Trol-B",
                    "type": "synonym"
                },
                {
                    "name": "Troll",
                    "type": "synonym"
                },
                {
                    "name": "Trol",
                    "type": "synonym"
                },
                {
                    "name": "ZW-1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0153538.72",
                    "type": "synonym"
                },
                {
                    "name": "l(1)3Ac",
                    "type": "synonym"
                },
                {
                    "name": "l(1)9-96",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0019",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0021",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0023",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0181",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0211",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0271",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0374",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0412",
                    "type": "synonym"
                },
                {
                    "name": "l(1)VA51",
                    "type": "synonym"
                },
                {
                    "name": "l(1)trol",
                    "type": "synonym"
                },
                {
                    "name": "l(1)zw1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)zwl",
                    "type": "synonym"
                },
                {
                    "name": "pcan",
                    "type": "synonym"
                },
                {
                    "name": "troll",
                    "type": "synonym"
                },
                {
                    "name": "trol",
                    "type": "synonym"
                },
                {
                    "name": "zw-1",
                    "type": "synonym"
                },
                {
                    "name": "zw1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD4DAU3-1",
            "evidence": [
                {
                    "id": "0090032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090032"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090032"
}