{
    "disease_id": "DOID:0060389",
    "recommended_name": {
        "id": "DOID:0060389",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060389",
        "name": "chromosome 10q23 deletion syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0012830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012830",
            "name": "chromosome 10q23 deletion syndrome",
            "description": "10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive."
        },
        {
            "id": "MONDO:0012830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012830",
            "name": "Del(10)(q22.3q23.3)",
            "description": ""
        },
        {
            "id": "MONDO:0012830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012830",
            "name": "deletion 10q22.3q23.3",
            "description": ""
        },
        {
            "id": "MONDO:0012830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012830",
            "name": "monosomy 10q22.3q23.3",
            "description": ""
        },
        {
            "id": "MONDO:0012830",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012830",
            "name": "10q22.3q23 microdeletion syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060389"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060389",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060389",
            "categories": []
        },
        {
            "id": "MONDO:0012830",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012830",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N2A7-1",
            "uniprot_ac": "A0A8M1N2A7",
            "uniprot_id": "A0A8M1N2A7_DANRE",
            "refseq_ac": "NP_001004585",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein serine/threonine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "alk3b",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type 1ab",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IA,b",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IAb precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmpr1ab",
                    "type": "recommended"
                },
                {
                    "name": "bmpr1ab",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe05b06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe06e10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92227",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N2A7-1",
            "evidence": [
                {
                    "id": "0060389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36895-1",
            "uniprot_ac": "P36895",
            "uniprot_id": "BMR1A_MOUSE",
            "refseq_ac": "NP_033888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1A receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2/BMP-4 receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "SKR5",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase receptor R5",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase receptor R5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr1a",
                    "type": "recommended"
                },
                {
                    "name": "1110037I22Rik",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "ALK3",
                    "type": "synonym"
                },
                {
                    "name": "Acvrlk3",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-IA",
                    "type": "synonym"
                },
                {
                    "name": "Bmpr1a",
                    "type": "synonym"
                },
                {
                    "name": "Bmpr",
                    "type": "synonym"
                },
                {
                    "name": "SKR5",
                    "type": "synonym"
                }
            ],
            "record_id": "P36895-1",
            "evidence": [
                {
                    "id": "0060389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060389"
                }
            ]
        },
        {
            "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": "612242",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36894-1",
            "uniprot_ac": "P36894",
            "uniprot_id": "BMR1A_HUMAN",
            "refseq_ac": "NP_004320",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1A receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "SKR5",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase receptor R5",
                    "type": "synonym"
                },
                {
                    "name": "activin A receptor, type II-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1A isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IA",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase receptor R5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMPR1A",
                    "type": "recommended"
                },
                {
                    "name": "10q23del",
                    "type": "synonym"
                },
                {
                    "name": "ACVRLK3",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "ALK3",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "BMPR1A",
                    "type": "synonym"
                },
                {
                    "name": "CD292",
                    "type": "synonym"
                },
                {
                    "name": "SKR5",
                    "type": "synonym"
                }
            ],
            "record_id": "P36894-1",
            "evidence": [
                {
                    "id": "612242",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612242"
                },
                {
                    "id": "0060389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q78EA7-1",
            "uniprot_ac": "Q78EA7",
            "uniprot_id": "BMR1A_RAT",
            "refseq_ac": "NP_110476",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1A receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 4 receptor",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 4 receptor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr1a",
                    "type": "recommended"
                },
                {
                    "name": "Bmpr1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q78EA7-1",
            "evidence": [
                {
                    "id": "0060389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMT1-1",
            "uniprot_ac": "Q9VMT1",
            "uniprot_id": "Q9VMT1_DROME",
            "refseq_ac": "NP_787990",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein serine/threonine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "Activin-A-receptor-25D",
                    "type": "synonym"
                },
                {
                    "name": "BMP receptor kinase 25D",
                    "type": "synonym"
                },
                {
                    "name": "CG14026-PC",
                    "type": "synonym"
                },
                {
                    "name": "DPP receptor",
                    "type": "synonym"
                },
                {
                    "name": "Thick-veins",
                    "type": "synonym"
                },
                {
                    "name": "Thick-vein",
                    "type": "synonym"
                },
                {
                    "name": "slater",
                    "type": "synonym"
                },
                {
                    "name": "thick veins",
                    "type": "synonym"
                },
                {
                    "name": "thickveins, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "thickveins",
                    "type": "synonym"
                },
                {
                    "name": "thickvein",
                    "type": "synonym"
                },
                {
                    "name": "tkv-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tkv",
                    "type": "recommended"
                },
                {
                    "name": "Atkv",
                    "type": "synonym"
                },
                {
                    "name": "Atr25D",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D1",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D2",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D",
                    "type": "synonym"
                },
                {
                    "name": "CG14026",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14026",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14026",
                    "type": "synonym"
                },
                {
                    "name": "Dtfr",
                    "type": "synonym"
                },
                {
                    "name": "STK-A",
                    "type": "synonym"
                },
                {
                    "name": "TKV1",
                    "type": "synonym"
                },
                {
                    "name": "TKV",
                    "type": "synonym"
                },
                {
                    "name": "TkvA",
                    "type": "synonym"
                },
                {
                    "name": "Tkv",
                    "type": "synonym"
                },
                {
                    "name": "dtfr",
                    "type": "synonym"
                },
                {
                    "name": "kv",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04415",
                    "type": "synonym"
                },
                {
                    "name": "l(2)25Da",
                    "type": "synonym"
                },
                {
                    "name": "str",
                    "type": "synonym"
                },
                {
                    "name": "thv",
                    "type": "synonym"
                },
                {
                    "name": "tkv1",
                    "type": "synonym"
                },
                {
                    "name": "tkva",
                    "type": "synonym"
                },
                {
                    "name": "tkv",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMT1-1",
            "evidence": [
                {
                    "id": "0060389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060389"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060389"
}