{
    "disease_id": "DOID:0111706",
    "recommended_name": {
        "id": "DOID:0111706",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111706",
        "name": "oblique facial clefting 1",
        "description": "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0111706",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111706",
            "name": "Tessier number 4 facial cleft",
            "description": ""
        },
        {
            "id": "MONDO:0010850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010850",
            "name": "Tessier number 4 facial cleft",
            "description": ""
        },
        {
            "id": "MONDO:0010850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010850",
            "name": "facial clefting, oblique, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010850",
            "name": "OBLFC1",
            "description": ""
        },
        {
            "id": "MONDO:0010850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010850",
            "name": "facial clefting, oblique, 1",
            "description": ""
        },
        {
            "id": "MIM:600251",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600251",
            "name": "Facial clefting, oblique, 1",
            "description": "Facial clefting, oblique, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111706"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111706",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111706",
            "categories": []
        },
        {
            "id": "MONDO:0010850",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010850",
            "categories": []
        },
        {
            "id": "MIM:600251",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600251",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PD49-1",
            "uniprot_ac": "A0A8M9PD49",
            "uniprot_id": "A0A8M9PD49_DANRE",
            "refseq_ac": "XP_021324703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytospin-A",
                    "type": "recommended"
                },
                {
                    "name": "cytospin-A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "specc1lb",
                    "type": "recommended"
                },
                {
                    "name": "specc1lb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PD49-1",
            "evidence": [
                {
                    "id": "0111706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2KN93-1",
            "uniprot_ac": "Q2KN93",
            "uniprot_id": "CYTSA_DANRE",
            "refseq_ac": "NP_001034905",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytospin-A",
                    "type": "recommended"
                },
                {
                    "name": "SPECC1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Sperm antigen with calponin homology and coiled-coil domains 1-like",
                    "type": "synonym"
                },
                {
                    "name": "cytospin A, genome duplicate a",
                    "type": "synonym"
                },
                {
                    "name": "cytospin-A-A",
                    "type": "synonym"
                },
                {
                    "name": "cytospin-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "specc1la",
                    "type": "recommended"
                },
                {
                    "name": "cytsaa",
                    "type": "synonym"
                },
                {
                    "name": "cytsa",
                    "type": "synonym"
                },
                {
                    "name": "im:7159316",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-118g10.1",
                    "type": "synonym"
                },
                {
                    "name": "specc1la",
                    "type": "synonym"
                },
                {
                    "name": "specc1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2KN93-1",
            "evidence": [
                {
                    "id": "0111706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2KN98-1",
            "uniprot_ac": "Q2KN98",
            "uniprot_id": "CYTSA_MOUSE",
            "refseq_ac": "NP_001139298",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytospin-A",
                    "type": "recommended"
                },
                {
                    "name": "SPECC1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Sperm antigen with calponin homology and coiled-coil domains 1-like",
                    "type": "synonym"
                },
                {
                    "name": "cytospin-A isoform a",
                    "type": "synonym"
                },
                {
                    "name": "cytospin-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Specc1l",
                    "type": "recommended"
                },
                {
                    "name": "4930470P14Rik",
                    "type": "synonym"
                },
                {
                    "name": "4932439K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "9530057A13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cytsa",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0376",
                    "type": "synonym"
                },
                {
                    "name": "Specc1l",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0376",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2KN98-1",
            "evidence": [
                {
                    "id": "0111706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q69YQ0-1",
            "uniprot_ac": "Q69YQ0",
            "uniprot_id": "CYTSA_HUMAN",
            "refseq_ac": "NP_001138940",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytospin-A",
                    "type": "recommended"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-22",
                    "type": "synonym"
                },
                {
                    "name": "SPECC1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Sperm antigen with calponin homology and coiled-coil domains 1-like",
                    "type": "synonym"
                },
                {
                    "name": "cytokinesis and spindle organization A",
                    "type": "synonym"
                },
                {
                    "name": "cytospin-A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytospin-A",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPECC1L",
                    "type": "recommended"
                },
                {
                    "name": "CYTSA",
                    "type": "synonym"
                },
                {
                    "name": "GBBB2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0376",
                    "type": "synonym"
                },
                {
                    "name": "OBLFC1",
                    "type": "synonym"
                },
                {
                    "name": "SPECC1L",
                    "type": "synonym"
                },
                {
                    "name": "TBHS1",
                    "type": "synonym"
                },
                {
                    "name": "TBHS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69YQ0-1",
            "evidence": [
                {
                    "id": "600251",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600251"
                },
                {
                    "id": "0111706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2KN99-1",
            "uniprot_ac": "Q2KN99",
            "uniprot_id": "CYTSA_RAT",
            "refseq_ac": "NP_001034544",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytospin-A",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S7, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "SPECC1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Sperm antigen with calponin homology and coiled-coil domains 1-like",
                    "type": "synonym"
                },
                {
                    "name": "cytospin-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Specc1l",
                    "type": "recommended"
                },
                {
                    "name": "Cytsa",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309570",
                    "type": "synonym"
                },
                {
                    "name": "Specc1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2KN99-1",
            "evidence": [
                {
                    "id": "0111706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111706"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KHX7-1",
            "uniprot_ac": "Q0KHX7",
            "uniprot_id": "Q0KHX7_DROME",
            "refseq_ac": "NP_001036254",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13366-PB",
                    "type": "synonym"
                },
                {
                    "name": "SPECC1L ortholog",
                    "type": "synonym"
                },
                {
                    "name": "SPECC1L-ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Split discs, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Split discs, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Split discs, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "spdi-PB",
                    "type": "synonym"
                },
                {
                    "name": "split discs, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spdi",
                    "type": "recommended"
                },
                {
                    "name": "AAD55419",
                    "type": "synonym"
                },
                {
                    "name": "CG13366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13366",
                    "type": "synonym"
                },
                {
                    "name": "EG:118B3.2",
                    "type": "synonym"
                },
                {
                    "name": "spdi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KHX7-1",
            "evidence": [
                {
                    "id": "0111706",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111706"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111706"
}