{
    "disease_id": "DOID:0112151",
    "recommended_name": {
        "id": "DOID:0112151",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112151",
        "name": "corpus callosum agenesis-abnormal genitalia syndrome",
        "description": "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112151",
            "name": "Proud-Levine-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112151",
            "name": "ACC with abnormal genitalia",
            "description": ""
        },
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112151",
            "name": "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112151",
            "name": "corpus callosum agenesis with abnormal genitalia",
            "description": ""
        },
        {
            "id": "DOID:0112151",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112151",
            "name": "Proud syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "corpus callosum agenesis-abnormal genitalia syndrome",
            "description": "Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed."
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "ACC-abnormal genitalia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "Proud syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "Proud-Levine-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum",
            "description": ""
        },
        {
            "id": "MONDO:0010224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "name": "Proud Levine Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MIM:300004",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300004",
            "name": "Agenesis of the corpus callosum, with abnormal genitalia",
            "description": "Agenesis of the corpus callosum, with abnormal genitalia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112151"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112151",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112151",
            "categories": []
        },
        {
            "id": "MONDO:0010224",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010224",
            "categories": []
        },
        {
            "id": "MIM:300004",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300004",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A0G2KXF6",
            "uniprot_id": "A0A0G2KXF6_DANRE",
            "refseq_ac": "XP_002667096",
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                    "common_name": "Zebrafish",
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                }
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                    "type": "synonym"
                },
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                    "name": "aristaless-related homeobox protein",
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                    "type": "recommended"
                },
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                },
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                },
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                    "name": "arx",
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                },
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            ],
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        },
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Homeobox protein ARX",
                    "type": "recommended"
                },
                {
                    "name": "Aristaless-related homeobox",
                    "type": "synonym"
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                    "name": "homeobox protein ARX",
                    "type": "synonym"
                }
            ],
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                    "name": "Arx",
                    "type": "recommended"
                },
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                    "name": "Arx1",
                    "type": "synonym"
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                    "type": "synonym"
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        },
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            "uniprot_ac": "Q96QS3",
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            "species": [
                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Homeobox protein ARX",
                    "type": "recommended"
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                    "name": "aristaless-related homeobox, X-linked",
                    "type": "synonym"
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                {
                    "name": "cancer/testis antigen 121",
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                    "name": "homeobox protein ARX",
                    "type": "synonym"
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                    "type": "recommended"
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                },
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                    "name": "CT121",
                    "type": "synonym"
                },
                {
                    "name": "EIEE1",
                    "type": "synonym"
                },
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                    "name": "ISSX",
                    "type": "synonym"
                },
                {
                    "name": "MRX29",
                    "type": "synonym"
                },
                {
                    "name": "MRX32",
                    "type": "synonym"
                },
                {
                    "name": "MRX33",
                    "type": "synonym"
                },
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                    "name": "MRX36",
                    "type": "synonym"
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                    "name": "MRX38",
                    "type": "synonym"
                },
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                    "name": "MRX43",
                    "type": "synonym"
                },
                {
                    "name": "MRX54",
                    "type": "synonym"
                },
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                    "name": "MRX76",
                    "type": "synonym"
                },
                {
                    "name": "MRX87",
                    "type": "synonym"
                },
                {
                    "name": "MRXS1",
                    "type": "synonym"
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                    "id": "0112151",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0112151"
                }
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            "uniprot_ac": "Q04116",
            "uniprot_id": "YHP1_YEAST",
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            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
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                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
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            ],
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                {
                    "name": "Homeobox protein YHP1",
                    "type": "recommended"
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            "species": [
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                    "name": "Rattus norvegicus",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112151"
}