{
    "disease_id": "DOID:0081444",
    "recommended_name": {
        "id": "DOID:0081444",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081444",
        "name": "neurodevelopmental disorder with poor growth and behavioral abnormalities",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0859377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859377",
            "name": "neurodevelopmental disorder with poor growth and behavioral abnormalities",
            "description": ""
        },
        {
            "id": "MIM:620242",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620242",
            "name": "Neurodevelopmental disorder with poor growth and behavioral abnormalities",
            "description": "Neurodevelopmental disorder with poor growth and behavioral abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081444"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081444",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081444",
            "categories": []
        },
        {
            "id": "MONDO:0859377",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859377",
            "categories": []
        },
        {
            "id": "MIM:620242",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620242",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O70228-1",
            "uniprot_ac": "O70228",
            "uniprot_id": "ATP9A_MOUSE",
            "refseq_ac": "NP_056546",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable phospholipid-transporting ATPase IIA",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 9A, class II",
                    "type": "synonym"
                },
                {
                    "name": "ATPase 9A, p type",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class II type 9A",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class 2",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IIA isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IIA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp9a",
                    "type": "recommended"
                },
                {
                    "name": "Atp9a",
                    "type": "synonym"
                },
                {
                    "name": "IIa",
                    "type": "synonym"
                }
            ],
            "record_id": "O70228-1",
            "evidence": [
                {
                    "id": "0081444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75110-1",
            "uniprot_ac": "O75110",
            "uniprot_id": "ATP9A_HUMAN",
            "refseq_ac": "NP_006036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable phospholipid-transporting ATPase IIA",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase class II type 9A",
                    "type": "synonym"
                },
                {
                    "name": "ATPase phospholipid transporting 9A (putative)",
                    "type": "synonym"
                },
                {
                    "name": "ATPase type IV, phospholipid-transporting (P-type),(putative)",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class II, type 9A",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IIA",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IIA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP9A",
                    "type": "recommended"
                },
                {
                    "name": "ATP9A",
                    "type": "synonym"
                },
                {
                    "name": "ATPIIA",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0611",
                    "type": "synonym"
                },
                {
                    "name": "NEDGBA",
                    "type": "synonym"
                }
            ],
            "record_id": "O75110-1",
            "evidence": [
                {
                    "id": "620242",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620242"
                },
                {
                    "id": "0081444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40527-1",
            "uniprot_ac": "P40527",
            "uniprot_id": "ATC7_YEAST",
            "refseq_ac": "NP_012216",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase NEO1",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "aminophospholipid-translocating P4-type ATPase NEO1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEO1",
                    "type": "recommended"
                },
                {
                    "name": "NEO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40527-1",
            "evidence": [
                {
                    "id": "0081444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A913-1",
            "uniprot_ac": "A0A8I6A913",
            "uniprot_id": "A0A8I6A913_RAT",
            "refseq_ac": "NP_114453",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase phospholipid transporting 9A (putative)",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, class II, type 9A",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IIA isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable phospholipid-transporting ATPase IIA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp9a",
                    "type": "recommended"
                },
                {
                    "name": "Atp9a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A913-1",
            "evidence": [
                {
                    "id": "0081444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VK06-1",
            "uniprot_ac": "Q9VK06",
            "uniprot_id": "Q9VK06_DROME",
            "refseq_ac": "NP_609634",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "CG31729-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG6263",
                    "type": "recommended"
                },
                {
                    "name": "DmCG31729",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG31729",
                    "type": "recommended"
                },
                {
                    "name": "P4-ATPase",
                    "type": "recommended"
                },
                {
                    "name": "CG16823",
                    "type": "synonym"
                },
                {
                    "name": "CG31729",
                    "type": "synonym"
                },
                {
                    "name": "CG6263",
                    "type": "synonym"
                },
                {
                    "name": "DmCG31729",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31729",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31729",
                    "type": "synonym"
                },
                {
                    "name": "P4-ATPase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VK06-1",
            "evidence": [
                {
                    "id": "0081444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081444"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081444"
}