{
    "disease_id": "DOID:0081203",
    "recommended_name": {
        "id": "DOID:0081203",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081203",
        "name": "autosomal recessive intellectual developmental disorder 38",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "name": "developmental delay with autism spectrum disorder and gait instability",
            "description": "Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior."
        },
        {
            "id": "MONDO:0014224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "name": "developmental delay with ASD and gait instability",
            "description": ""
        },
        {
            "id": "MONDO:0014224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "name": "intellectual developmental disorder, autosomal recessive 38",
            "description": ""
        },
        {
            "id": "MONDO:0014224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "name": "intellectual disability, autosomal recessive type 38",
            "description": ""
        },
        {
            "id": "MONDO:0014224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "name": "mental retardation, autosomal recessive type 38",
            "description": ""
        },
        {
            "id": "MONDO:0014224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "name": "MRT38",
            "description": ""
        },
        {
            "id": "MONDO:0014224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "name": "intellectual disability, autosomal recessive 38",
            "description": ""
        },
        {
            "id": "MONDO:0014224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "name": "mental retardation, autosomal recessive 38",
            "description": ""
        },
        {
            "id": "MIM:615516",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615516",
            "name": "Intellectual developmental disorder, autosomal recessive 38",
            "description": "Intellectual developmental disorder, autosomal recessive 38"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081203"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081203",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081203",
            "categories": []
        },
        {
            "id": "MONDO:0014224",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014224",
            "categories": []
        },
        {
            "id": "MIM:615516",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615516",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JVE2-1",
            "uniprot_ac": "A0AC58JVE2",
            "uniprot_id": "A0AC58JVE2_DANRE",
            "refseq_ac": "XP_073810441",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HERC2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HERC2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "HECT domain and RCC1-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HERC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "herc2",
                    "type": "recommended"
                },
                {
                    "name": "herc2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JVE2-1",
            "evidence": [
                {
                    "id": "0081203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4U2R1-1",
            "uniprot_ac": "Q4U2R1",
            "uniprot_id": "HERC2_MOUSE",
            "refseq_ac": "NP_034548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HERC2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HERC2",
                    "type": "synonym"
                },
                {
                    "name": "HECT domain and RCC1-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HERC2",
                    "type": "synonym"
                },
                {
                    "name": "hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase HERC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Herc2",
                    "type": "recommended"
                },
                {
                    "name": "D15F32S1h",
                    "type": "synonym"
                },
                {
                    "name": "D7H15F32S1",
                    "type": "synonym"
                },
                {
                    "name": "D7H15F37S1",
                    "type": "synonym"
                },
                {
                    "name": "Herc2",
                    "type": "synonym"
                },
                {
                    "name": "Jdf2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0393",
                    "type": "synonym"
                },
                {
                    "name": "Rjs",
                    "type": "synonym"
                },
                {
                    "name": "jdf2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0393",
                    "type": "synonym"
                },
                {
                    "name": "rjs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4U2R1-1",
            "evidence": [
                {
                    "id": "0081203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95714-1",
            "uniprot_ac": "O95714",
            "uniprot_id": "HERC2_HUMAN",
            "refseq_ac": "NP_004658",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HERC2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HERC2",
                    "type": "synonym"
                },
                {
                    "name": "HECT domain and RCC1-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HERC2",
                    "type": "synonym"
                },
                {
                    "name": "hect domain and RCC1-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "hect domain and RLD 2",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase HERC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HERC2",
                    "type": "recommended"
                },
                {
                    "name": "D15F37S1",
                    "type": "synonym"
                },
                {
                    "name": "HERC2",
                    "type": "synonym"
                },
                {
                    "name": "MRT38",
                    "type": "synonym"
                },
                {
                    "name": "SHEP1",
                    "type": "synonym"
                },
                {
                    "name": "jdf2",
                    "type": "synonym"
                },
                {
                    "name": "p528",
                    "type": "synonym"
                }
            ],
            "record_id": "O95714-1",
            "evidence": [
                {
                    "id": "615516",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615516"
                },
                {
                    "id": "0081203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JUC9-1",
            "uniprot_ac": "A0A0G2JUC9",
            "uniprot_id": "A0A0G2JUC9_RAT",
            "refseq_ac": "XP_006229362",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HERC2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HERC2",
                    "type": "synonym"
                },
                {
                    "name": "HECT domain and RCC1-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HERC2",
                    "type": "synonym"
                },
                {
                    "name": "hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2",
                    "type": "synonym"
                },
                {
                    "name": "hect domain and RLD 2",
                    "type": "synonym"
                },
                {
                    "name": "probable E3 ubiquitin-protein ligase HERC2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Herc2",
                    "type": "recommended"
                },
                {
                    "name": "Herc2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JUC9-1",
            "evidence": [
                {
                    "id": "0081203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR91-1",
            "uniprot_ac": "Q9VR91",
            "uniprot_id": "HERC2_DROME",
            "refseq_ac": "NP_608388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable E3 ubiquitin-protein ligase HERC2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "CG11734-PC",
                    "type": "synonym"
                },
                {
                    "name": "HECT and RLD domain containing protein 2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "HECT and RLD domain containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "HECT domain and RCC1-like domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HERC2",
                    "type": "synonym"
                },
                {
                    "name": "HERC2-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HERC2",
                    "type": "recommended"
                },
                {
                    "name": "AF189221.1",
                    "type": "synonym"
                },
                {
                    "name": "CG11734",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11734",
                    "type": "synonym"
                },
                {
                    "name": "HERC2",
                    "type": "synonym"
                },
                {
                    "name": "dHERC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR91-1",
            "evidence": [
                {
                    "id": "0081203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081203"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081203"
}