{
    "disease_id": "DOID:0060958",
    "recommended_name": {
        "id": "DOID:0060958",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060958",
        "name": "orofaciodigital syndrome XIV",
        "description": "An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "name": "orofaciodigital syndrome type 14",
            "description": "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated."
        },
        {
            "id": "MONDO:0014413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "name": "C2CD3 orofaciodigital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "name": "OFD14",
            "description": ""
        },
        {
            "id": "MONDO:0014413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "name": "microcephaly-cerebral malformation-orofaciodigital syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "name": "oral-facial-digital syndrome type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "name": "orofaciodigital syndrome caused by mutation in C2CD3",
            "description": ""
        },
        {
            "id": "MONDO:0014413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "name": "orofaciodigital syndrome type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "name": "orofaciodigital syndrome XIV",
            "description": ""
        },
        {
            "id": "MIM:615948",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615948",
            "name": "Orofaciodigital syndrome 14",
            "description": "Orofaciodigital syndrome 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060958"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060958",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060958",
            "categories": []
        },
        {
            "id": "MONDO:0014413",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014413",
            "categories": []
        },
        {
            "id": "MIM:615948",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615948",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q52KB6-1",
            "uniprot_ac": "Q52KB6",
            "uniprot_id": "C2CD3_MOUSE",
            "refseq_ac": "NP_001017985",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "C2 domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "C2 domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein hearty",
                    "type": "synonym"
                },
                {
                    "name": "protein hearty",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C2cd3",
                    "type": "recommended"
                },
                {
                    "name": "C2cd3",
                    "type": "synonym"
                },
                {
                    "name": "Hty",
                    "type": "synonym"
                }
            ],
            "record_id": "Q52KB6-1",
            "evidence": [
                {
                    "id": "0060958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4AC94-5",
            "uniprot_ac": "Q4AC94",
            "uniprot_id": "C2CD3_HUMAN",
            "refseq_ac": "NP_001273506",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "C2 domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "C2 calcium dependent domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "C2 domain-containing protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "C2 domain-containing protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C2CD3",
                    "type": "recommended"
                },
                {
                    "name": "C2CD3",
                    "type": "synonym"
                },
                {
                    "name": "OFD14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4AC94-5",
            "evidence": [
                {
                    "id": "615948",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615948"
                },
                {
                    "id": "0060958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LBS4-1",
            "uniprot_ac": "A0ABK0LBS4",
            "uniprot_id": "A0ABK0LBS4_RAT",
            "refseq_ac": "XP_017444439",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "C2 domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "C2 domain-containing protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C2cd3",
                    "type": "recommended"
                },
                {
                    "name": "C2cd3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307366",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LBS4-1",
            "evidence": [
                {
                    "id": "0060958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPD7-1",
            "uniprot_ac": "Q9VPD7",
            "uniprot_id": "Q9VPD7_DROME",
            "refseq_ac": "NP_730546",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C2 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG32425-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG15869",
                    "type": "recommended"
                },
                {
                    "name": "CG5100",
                    "type": "recommended"
                },
                {
                    "name": "CG15869",
                    "type": "synonym"
                },
                {
                    "name": "CG32425",
                    "type": "synonym"
                },
                {
                    "name": "CG5100",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32425",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32425",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPD7-1",
            "evidence": [
                {
                    "id": "0060958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060958"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060958"
}