{
    "disease_id": "DOID:0070408",
    "recommended_name": {
        "id": "DOID:0070408",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070408",
        "name": "Hengel-Maroofian-Schols syndrome",
        "description": "A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0859208",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859208",
            "name": "Hengel-Maroofian-Schols syndrome",
            "description": ""
        },
        {
            "id": "MIM:619641",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619641",
            "name": "Hengel-Maroofian-Schols syndrome",
            "description": "Hengel-Maroofian-Schols syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070408"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070408",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070408",
            "categories": []
        },
        {
            "id": "MONDO:0859208",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859208",
            "categories": []
        },
        {
            "id": "MIM:619641",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619641",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QPS4-1",
            "uniprot_ac": "A0A8M9QPS4",
            "uniprot_id": "A0A8M9QPS4_DANRE",
            "refseq_ac": "XP_021337035",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCAS3 microtubule associated cell migration factor",
                    "type": "recommended"
                },
                {
                    "name": "BCAS3 microtubule associated cell migration factor isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcas3",
                    "type": "recommended"
                },
                {
                    "name": "bcas3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63764",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QPS4-1",
            "evidence": [
                {
                    "id": "0070408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CCN5-1",
            "uniprot_ac": "Q8CCN5",
            "uniprot_id": "BCAS3_MOUSE",
            "refseq_ac": "NP_001160114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCAS3 microtubule associated cell migration factor",
                    "type": "recommended"
                },
                {
                    "name": "BCAS3 microtubule associated cell migration factor isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Breast carcinoma-amplified sequence 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "K20D4",
                    "type": "synonym"
                },
                {
                    "name": "Protein rudhira",
                    "type": "synonym"
                },
                {
                    "name": "breast carcinoma amplified sequence 3",
                    "type": "synonym"
                },
                {
                    "name": "breast carcinoma-amplified sequence 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein rudhira",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcas3",
                    "type": "recommended"
                },
                {
                    "name": "1500019F07Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610028P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bcas3",
                    "type": "synonym"
                },
                {
                    "name": "K20D4",
                    "type": "synonym"
                },
                {
                    "name": "Phaf2",
                    "type": "synonym"
                },
                {
                    "name": "rudhira",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CCN5-1",
            "evidence": [
                {
                    "id": "0070408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H6U6-1",
            "uniprot_ac": "Q9H6U6",
            "uniprot_id": "BCAS3_HUMAN",
            "refseq_ac": "NP_001092902",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCAS3 microtubule associated cell migration factor",
                    "type": "recommended"
                },
                {
                    "name": "BCAS3 microtubule associated cell migration factor isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "BCAS4/BCAS3 fusion",
                    "type": "synonym"
                },
                {
                    "name": "Breast carcinoma-amplified sequence 3",
                    "type": "synonym"
                },
                {
                    "name": "GAOB1",
                    "type": "synonym"
                },
                {
                    "name": "Rudhira",
                    "type": "synonym"
                },
                {
                    "name": "breast carcinoma amplified sequence 4/3 fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "breast carcinoma-amplified sequence 3",
                    "type": "synonym"
                },
                {
                    "name": "metastasis associated antigen of breast cancer",
                    "type": "synonym"
                },
                {
                    "name": "phagophore assembly factor 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Maab1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCAS3",
                    "type": "recommended"
                },
                {
                    "name": "BCAS3",
                    "type": "synonym"
                },
                {
                    "name": "GAOB1",
                    "type": "synonym"
                },
                {
                    "name": "HEMARS",
                    "type": "synonym"
                },
                {
                    "name": "MAAB",
                    "type": "synonym"
                },
                {
                    "name": "PHAF2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H6U6-1",
            "evidence": [
                {
                    "id": "619641",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619641"
                },
                {
                    "id": "0070408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A420-1",
            "uniprot_ac": "A0A8I6A420",
            "uniprot_id": "A0A8I6A420_RAT",
            "refseq_ac": "NP_001166901",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BCAS3 microtubule associated cell migration factor",
                    "type": "recommended"
                },
                {
                    "name": "BCAS3 microtubule associated cell migration factor",
                    "type": "synonym"
                },
                {
                    "name": "breast carcinoma amplified sequence 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcas3",
                    "type": "recommended"
                },
                {
                    "name": "Bcas3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1560788",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A420-1",
            "evidence": [
                {
                    "id": "0070408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8SY41-1",
            "uniprot_ac": "Q8SY41",
            "uniprot_id": "BCAS3_DROME",
            "refseq_ac": "NP_001245631",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Breast carcinoma-amplified sequence 3 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG43154-PD",
                    "type": "synonym"
                },
                {
                    "name": "DRudh",
                    "type": "synonym"
                },
                {
                    "name": "Protein rudhira",
                    "type": "synonym"
                },
                {
                    "name": "rudhira, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "rudhira-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rudhira",
                    "type": "recommended"
                },
                {
                    "name": "CG1905",
                    "type": "synonym"
                },
                {
                    "name": "CG32662",
                    "type": "synonym"
                },
                {
                    "name": "CG32663",
                    "type": "synonym"
                },
                {
                    "name": "CG43154",
                    "type": "synonym"
                },
                {
                    "name": "DRudh",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43154",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43154",
                    "type": "synonym"
                },
                {
                    "name": "Drudh",
                    "type": "synonym"
                },
                {
                    "name": "Rudh",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.41",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.41",
                    "type": "synonym"
                },
                {
                    "name": "rudhira",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8SY41-1",
            "evidence": [
                {
                    "id": "0070408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070408"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070408"
}