{
    "disease_id": "DOID:0070729",
    "recommended_name": {
        "id": "DOID:0070729",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070729",
        "name": "spermatogenic failure 100",
        "description": "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia resulting from multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH12 gene on chromosome 3p14."
    },
    "synonyms": [
        {
            "id": "DOID:0070729",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070729",
            "name": "SPGF100",
            "description": ""
        },
        {
            "id": "MONDO:0978302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0978302",
            "name": "spermatogenic failure 100",
            "description": ""
        },
        {
            "id": "MIM:621209",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621209",
            "name": "Spermatogenic failure 100",
            "description": "Spermatogenic failure 100"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070729"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070729",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070729",
            "categories": []
        },
        {
            "id": "MONDO:0978302",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0978302",
            "categories": []
        },
        {
            "id": "MIM:621209",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621209",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6ZR08-1",
            "uniprot_ac": "Q6ZR08",
            "uniprot_id": "DYH12_HUMAN",
            "refseq_ac": "NP_940966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 12",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 12",
                    "type": "synonym"
                },
                {
                    "name": "Axonemal dynein heavy chain 12-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Axonemal dynein heavy chain 7-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 12",
                    "type": "synonym"
                },
                {
                    "name": "Dynein axonemal heavy chain 7-like",
                    "type": "synonym"
                },
                {
                    "name": "Dynein heavy chain domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 12",
                    "type": "synonym"
                },
                {
                    "name": "axonemal dynein heavy chain isotype3",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 12",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 12 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 12",
                    "type": "synonym"
                },
                {
                    "name": "dynein, heavy chain-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAH12",
                    "type": "recommended"
                },
                {
                    "name": "DHC3",
                    "type": "synonym"
                },
                {
                    "name": "DLP12",
                    "type": "synonym"
                },
                {
                    "name": "DLP3",
                    "type": "synonym"
                },
                {
                    "name": "DNAH12L",
                    "type": "synonym"
                },
                {
                    "name": "DNAH12",
                    "type": "synonym"
                },
                {
                    "name": "DNAH7L",
                    "type": "synonym"
                },
                {
                    "name": "DNAHC12",
                    "type": "synonym"
                },
                {
                    "name": "DNAHC3",
                    "type": "synonym"
                },
                {
                    "name": "DNHD2",
                    "type": "synonym"
                },
                {
                    "name": "HDHC3",
                    "type": "synonym"
                },
                {
                    "name": "HL-19",
                    "type": "synonym"
                },
                {
                    "name": "HL19",
                    "type": "synonym"
                },
                {
                    "name": "SPGF100",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZR08-1",
            "evidence": [
                {
                    "id": "621209",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070729"
}