{
    "disease_id": "DOID:0050812",
    "recommended_name": {
        "id": "DOID:0050812",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050812",
        "name": "spondyloepimetaphyseal dysplasia, Pakistani type",
        "description": "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."
    },
    "synonyms": [
        {
            "id": "DOID:0050812",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050812",
            "name": "spondyloepimetaphyseal dysplasia Pakistani type",
            "description": ""
        },
        {
            "id": "MONDO:0019666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019666",
            "name": "spondyloepimetaphyseal dysplasia, PAPSS2 type",
            "description": "A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."
        },
        {
            "id": "MONDO:0019666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019666",
            "name": "brachyolmia 4 with mild epiphyseal and metaphyseal changes",
            "description": ""
        },
        {
            "id": "MONDO:0019666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019666",
            "name": "spondyloepimetaphyseal dysplasia, Pakistani type",
            "description": ""
        },
        {
            "id": "MONDO:0019666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019666",
            "name": "BCYM4",
            "description": ""
        },
        {
            "id": "MONDO:0019666",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019666",
            "name": "brachyolmia type 4 with mild epiphyseal and metaphyseal changes",
            "description": ""
        },
        {
            "id": "MIM:612847",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612847",
            "name": "Brachyolmia type 4 with mild epiphyseal and metaphyseal changes",
            "description": "Brachyolmia type 4 with mild epiphyseal and metaphyseal changes"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050812"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050812",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050812",
            "categories": []
        },
        {
            "id": "MONDO:0019666",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019666",
            "categories": []
        },
        {
            "id": "MIM:612847",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612847",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O95340-1",
            "uniprot_ac": "O95340",
            "uniprot_id": "PAPS2_HUMAN",
            "refseq_ac": "NP_001015880",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2",
                    "type": "recommended"
                },
                {
                    "name": "3'-phosphoadenosine-5'-phosphosulfate synthase",
                    "type": "synonym"
                },
                {
                    "name": "3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "APS kinase",
                    "type": "synonym"
                },
                {
                    "name": "ATP sulfurylase/APS kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP sulfurylase/adenosine 5'-phosphosulfate kinase",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sulfurylase",
                    "type": "synonym"
                },
                {
                    "name": "Adenosine-5'-phosphosulfate 3'-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylylsulfate 3'-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "PAPS synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "PAPS synthetase 2",
                    "type": "synonym"
                },
                {
                    "name": "PAPSS 2",
                    "type": "synonym"
                },
                {
                    "name": "SAT",
                    "type": "synonym"
                },
                {
                    "name": "SK 2",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                },
                {
                    "name": "Sulfate adenylate transferase",
                    "type": "synonym"
                },
                {
                    "name": "Sulfurylase kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "adenylyl-sulfate kinase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "sulfate adenylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAPSS2",
                    "type": "recommended"
                },
                {
                    "name": "ATPSK2",
                    "type": "synonym"
                },
                {
                    "name": "BCYM4",
                    "type": "synonym"
                },
                {
                    "name": "PAPSS2",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                }
            ],
            "record_id": "O95340-1",
            "evidence": [
                {
                    "id": "9060",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/9060#disease"
                },
                {
                    "id": "612847",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612847"
                },
                {
                    "id": "0050812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88428-1",
            "uniprot_ac": "O88428",
            "uniprot_id": "PAPS2_MOUSE",
            "refseq_ac": "NP_035994",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2",
                    "type": "recommended"
                },
                {
                    "name": "3'-phosphoadenosine-5'-phosphosulfate synthase",
                    "type": "synonym"
                },
                {
                    "name": "APS kinase",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sulfurylase",
                    "type": "synonym"
                },
                {
                    "name": "Adenosine-5'-phosphosulfate 3'-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenylylsulfate 3'-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "PAPS synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "PAPSS 2",
                    "type": "synonym"
                },
                {
                    "name": "SAT",
                    "type": "synonym"
                },
                {
                    "name": "SK 2",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                },
                {
                    "name": "Sulfate adenylate transferase",
                    "type": "synonym"
                },
                {
                    "name": "Sulfurylase kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "brachymorphic",
                    "type": "synonym"
                },
                {
                    "name": "sulfurylase kinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Papss2",
                    "type": "recommended"
                },
                {
                    "name": "1810018P12Rik",
                    "type": "synonym"
                },
                {
                    "name": "AtpsU2",
                    "type": "synonym"
                },
                {
                    "name": "Atpsk2",
                    "type": "synonym"
                },
                {
                    "name": "Papss2",
                    "type": "synonym"
                },
                {
                    "name": "Sk2",
                    "type": "synonym"
                },
                {
                    "name": "bm",
                    "type": "synonym"
                }
            ],
            "record_id": "O88428-1",
            "evidence": [
                {
                    "id": "0050812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02196-1",
            "uniprot_ac": "Q02196",
            "uniprot_id": "KAPS_YEAST",
            "refseq_ac": "NP_012925",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylyl-sulfate kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.25",
                    "type": "synonym"
                },
                {
                    "name": "APS kinase",
                    "type": "synonym"
                },
                {
                    "name": "ATP adenosine-5'-phosphosulfate 3'-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Adenosine-5'-phosphosulfate kinase",
                    "type": "synonym"
                },
                {
                    "name": "adenylyl-sulfate kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MET14",
                    "type": "recommended"
                },
                {
                    "name": "MET14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02196-1",
            "evidence": [
                {
                    "id": "0050812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08536-1",
            "uniprot_ac": "P08536",
            "uniprot_id": "MET3_YEAST",
            "refseq_ac": "NP_012543",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sulfate adenylyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sulfurylase",
                    "type": "synonym"
                },
                {
                    "name": "Methionine-requiring protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SAT",
                    "type": "synonym"
                },
                {
                    "name": "Sulfate adenylate transferase",
                    "type": "synonym"
                },
                {
                    "name": "sulfate adenylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MET3",
                    "type": "recommended"
                },
                {
                    "name": "J1436",
                    "type": "synonym"
                },
                {
                    "name": "MET3",
                    "type": "synonym"
                }
            ],
            "record_id": "P08536-1",
            "evidence": [
                {
                    "id": "0050812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FL77-1",
            "uniprot_ac": "F7FL77",
            "uniprot_id": "F7FL77_RAT",
            "refseq_ac": "XP_006231336",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "3'-phosphoadenosine 5'-phosphosulfate synthase 2",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Papss2",
                    "type": "recommended"
                },
                {
                    "name": "Papss2",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FL77-1",
            "evidence": [
                {
                    "id": "0050812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050812"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQV1-1",
            "uniprot_ac": "Q8IQV1",
            "uniprot_id": "Q8IQV1_DROME",
            "refseq_ac": "NP_730460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.1.25",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.4",
                    "type": "synonym"
                },
                {
                    "name": "CG8363-PD",
                    "type": "synonym"
                },
                {
                    "name": "PAPS synthetase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "PAPs synthase",
                    "type": "synonym"
                },
                {
                    "name": "Papss-PD",
                    "type": "synonym"
                },
                {
                    "name": "paps synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Papss",
                    "type": "recommended"
                },
                {
                    "name": "CG8363",
                    "type": "synonym"
                },
                {
                    "name": "DmPAPSS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8363",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8363",
                    "type": "synonym"
                },
                {
                    "name": "PAPSS",
                    "type": "synonym"
                },
                {
                    "name": "PAPS",
                    "type": "synonym"
                },
                {
                    "name": "Papss",
                    "type": "synonym"
                },
                {
                    "name": "Paps",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDn",
                    "type": "synonym"
                },
                {
                    "name": "papss",
                    "type": "synonym"
                },
                {
                    "name": "paps",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQV1-1",
            "evidence": [
                {
                    "id": "0050812",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050812"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050812"
}