{
    "disease_id": "DOID:0060867",
    "recommended_name": {
        "id": "DOID:0060867",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060867",
        "name": "macrocephaly-autism syndrome",
        "description": "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060867",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060867",
            "name": "macrocephaly-intellectual disability-autism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011537",
            "name": "macrocephaly-autism syndrome",
            "description": "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23."
        },
        {
            "id": "MONDO:0011537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011537",
            "name": "macrocephaly-intellectual disability-autism syndrome",
            "description": ""
        },
        {
            "id": "MIM:605309",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605309",
            "name": "Macrocephaly/autism syndrome",
            "description": "Macrocephaly/autism syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060867"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060867",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060867",
            "categories": []
        },
        {
            "id": "MONDO:0011537",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011537",
            "categories": []
        },
        {
            "id": "MIM:605309",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605309",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PHN1-1",
            "uniprot_ac": "A0A8M1PHN1",
            "uniprot_id": "A0A8M1PHN1_DANRE",
            "refseq_ac": "NP_957002",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.67",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatase and tensin homolog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase and tensin homolog A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase and tensin-like protein A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptena",
                    "type": "recommended"
                },
                {
                    "name": "ptena",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc52g04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73086",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PHN1-1",
            "evidence": [
                {
                    "id": "0060867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08586-1",
            "uniprot_ac": "O08586",
            "uniprot_id": "PTEN_MOUSE",
            "refseq_ac": "NP_032986",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.67",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Mutated in multiple advanced cancers 1",
                    "type": "synonym"
                },
                {
                    "name": "PTENepsilon",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatase and tensin homolog",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial PTENalpha",
                    "type": "synonym"
                },
                {
                    "name": "mutated in multiple advanced cancers 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pten",
                    "type": "recommended"
                },
                {
                    "name": "2310035O07Rik",
                    "type": "synonym"
                },
                {
                    "name": "A130070J02Rik",
                    "type": "synonym"
                },
                {
                    "name": "B430203M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "MMAC1",
                    "type": "synonym"
                },
                {
                    "name": "Mmac1",
                    "type": "synonym"
                },
                {
                    "name": "PTENbeta",
                    "type": "synonym"
                },
                {
                    "name": "Pten",
                    "type": "synonym"
                },
                {
                    "name": "TEP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O08586-1",
            "evidence": [
                {
                    "id": "0060867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60484-1",
            "uniprot_ac": "P60484",
            "uniprot_id": "PTEN_HUMAN",
            "refseq_ac": "NP_000305",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.67",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "MMAC1 phosphatase and tensin homolog deleted on chromosome 10",
                    "type": "synonym"
                },
                {
                    "name": "Mutated in multiple advanced cancers 1",
                    "type": "synonym"
                },
                {
                    "name": "PTEN variant PTEN-K267Rfs*9",
                    "type": "synonym"
                },
                {
                    "name": "PTEN variant PTEN-L247*",
                    "type": "synonym"
                },
                {
                    "name": "PTEN variant PTEN-R234Afs*11",
                    "type": "synonym"
                },
                {
                    "name": "PTENepsilon",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatase and tensin homolog",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial PTENalpha",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial phosphatase and tensin protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "mutated in multiple advanced cancers 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase and tensin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN isoform PTEN",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTEN",
                    "type": "recommended"
                },
                {
                    "name": "10q23del",
                    "type": "synonym"
                },
                {
                    "name": "BZS",
                    "type": "synonym"
                },
                {
                    "name": "CWS1",
                    "type": "synonym"
                },
                {
                    "name": "DEC",
                    "type": "synonym"
                },
                {
                    "name": "GLM2",
                    "type": "synonym"
                },
                {
                    "name": "MHAM",
                    "type": "synonym"
                },
                {
                    "name": "MMAC1",
                    "type": "synonym"
                },
                {
                    "name": "PTEN1",
                    "type": "synonym"
                },
                {
                    "name": "PTENbeta",
                    "type": "synonym"
                },
                {
                    "name": "PTENgama",
                    "type": "synonym"
                },
                {
                    "name": "PTEN",
                    "type": "synonym"
                },
                {
                    "name": "TEP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P60484-1",
            "evidence": [
                {
                    "id": "605309",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605309"
                },
                {
                    "id": "0060867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53916-1",
            "uniprot_ac": "P53916",
            "uniprot_id": "TEP1_YEAST",
            "refseq_ac": "NP_014271",
            "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": "Probable phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TEP1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.67",
                    "type": "synonym"
                },
                {
                    "name": "putative phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TEP1",
                    "type": "recommended"
                },
                {
                    "name": "N1220",
                    "type": "synonym"
                },
                {
                    "name": "N1872",
                    "type": "synonym"
                },
                {
                    "name": "TEP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53916-1",
            "evidence": [
                {
                    "id": "0060867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060867"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54857-1",
            "uniprot_ac": "O54857",
            "uniprot_id": "PTEN_RAT",
            "refseq_ac": "NP_113794",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.-",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.67",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatase and tensin homolog",
                    "type": "synonym"
                },
                {
                    "name": "inositol polyphosphate 3-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "mutated in multiple advanced cancers 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase and tensin homolog deleted on chromosome ten",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine phosphatase and tensin-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pten",
                    "type": "recommended"
                },
                {
                    "name": "MMAC1",
                    "type": "synonym"
                },
                {
                    "name": "Mmac",
                    "type": "synonym"
                },
                {
                    "name": "Pten",
                    "type": "synonym"
                },
                {
                    "name": "TEP1",
                    "type": "synonym"
                },
                {
                    "name": "rCG_47874",
                    "type": "synonym"
                }
            ],
            "record_id": "O54857-1",
            "evidence": [
                {
                    "id": "0060867",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060867"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060867"
}