{
    "disease_id": "DOID:0070058",
    "recommended_name": {
        "id": "DOID:0070058",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070058",
        "name": "Helsmoortel-Van Der Aa Syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13."
    },
    "synonyms": [
        {
            "id": "DOID:0070058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070058",
            "name": "HVDAS",
            "description": ""
        },
        {
            "id": "DOID:0070058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070058",
            "name": "MRD28",
            "description": ""
        },
        {
            "id": "DOID:0070058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070058",
            "name": "autosomal dominant mental retardation 28",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder",
            "description": "An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13."
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "ADNP Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "ADNP syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "HVDAS",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "Helsmoortel-Van der Aa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "autosomal dominant intellectual disability 28",
            "description": ""
        },
        {
            "id": "MONDO:0014379",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "name": "mental retardation, autosomal dominant 28",
            "description": ""
        },
        {
            "id": "MIM:615873",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615873",
            "name": "Helsmoortel-van der Aa syndrome",
            "description": "Helsmoortel-van der Aa syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070058"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070058",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070058",
            "categories": []
        },
        {
            "id": "MONDO:0014379",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014379",
            "categories": []
        },
        {
            "id": "MIM:615873",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615873",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QLG5-1",
            "uniprot_ac": "F1QLG5",
            "uniprot_id": "ADN1A_DANRE",
            "refseq_ac": "NP_001073484",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activity-dependent neuroprotective protein a",
                    "type": "recommended"
                },
                {
                    "name": "ADNP homeobox protein a",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotective protein a",
                    "type": "synonym"
                },
                {
                    "name": "adnp1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adnpa",
                    "type": "recommended"
                },
                {
                    "name": "adnp1a",
                    "type": "synonym"
                },
                {
                    "name": "adnpa",
                    "type": "synonym"
                },
                {
                    "name": "adnp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi35b06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:154063",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QLG5-1",
            "evidence": [
                {
                    "id": "0070058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3B615-1",
            "uniprot_ac": "A0A8M3B615",
            "uniprot_id": "A0A8M3B615_DANRE",
            "refseq_ac": "XP_009295051",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activity-dependent neuroprotector homeobox b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotector homeobox b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adnpb",
                    "type": "recommended"
                },
                {
                    "name": "adnp1b",
                    "type": "synonym"
                },
                {
                    "name": "adnpb",
                    "type": "synonym"
                },
                {
                    "name": "adnp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi72f04",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B615-1",
            "evidence": [
                {
                    "id": "0070058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z103-1",
            "uniprot_ac": "Q9Z103",
            "uniprot_id": "ADNP_MOUSE",
            "refseq_ac": "NP_001297015",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activity-dependent neuroprotector homeobox protein",
                    "type": "recommended"
                },
                {
                    "name": "Activity-dependent neuroprotective protein",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotector homeobox protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotector homeobox protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adnp",
                    "type": "recommended"
                },
                {
                    "name": "Adnp",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0784",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z103-1",
            "evidence": [
                {
                    "id": "0070058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2P0-1",
            "uniprot_ac": "Q9H2P0",
            "uniprot_id": "ADNP_HUMAN",
            "refseq_ac": "NP_001269460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activity-dependent neuroprotector homeobox protein",
                    "type": "recommended"
                },
                {
                    "name": "ADNP homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "Activity-dependent neuroprotective protein",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotective protein",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotector homeobox protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotector",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADNP",
                    "type": "recommended"
                },
                {
                    "name": "ADNP1",
                    "type": "synonym"
                },
                {
                    "name": "ADNP",
                    "type": "synonym"
                },
                {
                    "name": "HVDAS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0784",
                    "type": "synonym"
                },
                {
                    "name": "MRD28",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2P0-1",
            "evidence": [
                {
                    "id": "615873",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615873"
                },
                {
                    "id": "0070058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKL8-1",
            "uniprot_ac": "Q9JKL8",
            "uniprot_id": "ADNP_RAT",
            "refseq_ac": "NP_001416414",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activity-dependent neuroprotector homeobox protein",
                    "type": "recommended"
                },
                {
                    "name": "Activity-dependent neuroprotective protein",
                    "type": "synonym"
                },
                {
                    "name": "NAP peptide",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotective protein",
                    "type": "synonym"
                },
                {
                    "name": "activity-dependent neuroprotector homeobox protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adnp",
                    "type": "recommended"
                },
                {
                    "name": "Adnp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKL8-1",
            "evidence": [
                {
                    "id": "0070058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070058"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070058"
}