{
    "disease_id": "DOID:0080698",
    "recommended_name": {
        "id": "DOID:0080698",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080698",
        "name": "Teebi hypertelorism syndrome 1",
        "description": "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0080698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080698",
            "name": "Opitz GBBB syndrome type II",
            "description": ""
        },
        {
            "id": "DOID:0080698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080698",
            "name": "SPECC1L-related hypertelorism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080698",
            "name": "Teebi hypertelorism syndrome-1",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "Teebi hypertelorism syndrome 1",
            "description": "A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes."
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "Teebi hypertelorism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "Teebi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "hypertelorism, Teebi type",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "Brachycephalofrontonasal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0800025",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "name": "craniofrontonasal dysplasia, Teebi type",
            "description": ""
        },
        {
            "id": "MIM:145420",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/145420",
            "name": "Teebi hypertelorism syndrome 1",
            "description": "Teebi hypertelorism syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080698"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080698",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080698",
            "categories": []
        },
        {
            "id": "MONDO:0800025",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800025",
            "categories": []
        },
        {
            "id": "MIM:145420",
            "database": "MIM",
            "url": "https://www.omim.org/entry/145420",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0080698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080698"
                }
            ]
        },
        {
            "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": "0080698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080698"
                }
            ]
        },
        {
            "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": "0080698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080698"
                }
            ]
        },
        {
            "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": "145420",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/145420"
                },
                {
                    "id": "0080698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080698"
                }
            ]
        },
        {
            "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": "0080698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080698"
                }
            ]
        },
        {
            "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": "0080698",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080698"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080698"
}