{
    "disease_id": "DOID:0070289",
    "recommended_name": {
        "id": "DOID:0070289",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070289",
        "name": "primary autosomal recessive microcephaly 16",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070289",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070289",
            "name": "MCPH16",
            "description": ""
        },
        {
            "id": "MONDO:0014730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014730",
            "name": "microcephaly 16, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014730",
            "name": "MCPH16",
            "description": ""
        },
        {
            "id": "MONDO:0014730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014730",
            "name": "microcephaly 16, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014730",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014730",
            "name": "microcephaly 16, primary, autosomal recessive; MCPH16",
            "description": ""
        },
        {
            "id": "MIM:616681",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616681",
            "name": "Microcephaly 16, primary, autosomal recessive",
            "description": "Microcephaly 16, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070289"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070289",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070289",
            "categories": []
        },
        {
            "id": "MONDO:0014730",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014730",
            "categories": []
        },
        {
            "id": "MIM:616681",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616681",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P1H6-1",
            "uniprot_ac": "Q6P1H6",
            "uniprot_id": "ANKL2_MOUSE",
            "refseq_ac": "NP_001240743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and LEM domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and LEM domain-containing protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and LEM domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ankle2",
                    "type": "recommended"
                },
                {
                    "name": "1110001J12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ankle2",
                    "type": "synonym"
                },
                {
                    "name": "D5Ertd585e",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0692",
                    "type": "synonym"
                },
                {
                    "name": "Lem4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P1H6-1",
            "evidence": [
                {
                    "id": "0070289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86XL3-1",
            "uniprot_ac": "Q86XL3",
            "uniprot_id": "ANKL2_HUMAN",
            "refseq_ac": "NP_055929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and LEM domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain containing 7",
                    "type": "synonym"
                },
                {
                    "name": "LEM domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "LEM-domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and LEM domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANKLE2",
                    "type": "recommended"
                },
                {
                    "name": "ANKLE2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0692",
                    "type": "synonym"
                },
                {
                    "name": "LEM4",
                    "type": "synonym"
                },
                {
                    "name": "LEMD7",
                    "type": "synonym"
                },
                {
                    "name": "Lem4",
                    "type": "synonym"
                },
                {
                    "name": "MCPH16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86XL3-1",
            "evidence": [
                {
                    "id": "616681",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616681"
                },
                {
                    "id": "0070289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TP65-1",
            "uniprot_ac": "Q7TP65",
            "uniprot_id": "ANKL2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and LEM domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Liver regeneration-related protein LRRG057",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ankle2",
                    "type": "recommended"
                },
                {
                    "name": "Ab2-034",
                    "type": "synonym"
                },
                {
                    "name": "Lem4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TP65-1",
            "evidence": [
                {
                    "id": "0070289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070289"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MQX9-1",
            "uniprot_ac": "Q8MQX9",
            "uniprot_id": "ANKL2_DROME",
            "refseq_ac": "NP_001285375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and LEM domain-containing protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "ANKLE2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Ankle2, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Ankle2-PG",
                    "type": "synonym"
                },
                {
                    "name": "CG8465-PG",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and LEM domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0222",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0222",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ankle2",
                    "type": "recommended"
                },
                {
                    "name": "Ankle-2",
                    "type": "synonym"
                },
                {
                    "name": "Ankle2",
                    "type": "synonym"
                },
                {
                    "name": "CG8465",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8465",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.175",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.177",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.179",
                    "type": "synonym"
                },
                {
                    "name": "dAnkle2",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0222",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0316",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MQX9-1",
            "evidence": [
                {
                    "id": "0070289",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070289"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070289"
}