{
    "disease_id": "DOID:0080196",
    "recommended_name": {
        "id": "DOID:0080196",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080196",
        "name": "mandibulofacial dysostosis, Guion-Almeida type",
        "description": "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia."
    },
    "synonyms": [
        {
            "id": "DOID:0080196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080196",
            "name": "MFDM syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080196",
            "name": "mandibulofacial dysostosis with microcephaly",
            "description": ""
        },
        {
            "id": "DOID:0080196",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080196",
            "name": "mandibulofacial dysostosis-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "mandibulofacial dysostosis-microcephaly syndrome",
            "description": "Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability."
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "MFDM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "mandibulofacial dysostosis with microcephaly",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "mandibulofacial dysostosis, Guion-Almeida type",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "mandibulofacial dysostosis-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "MFDGA",
            "description": ""
        },
        {
            "id": "MONDO:0012516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "name": "MFDM",
            "description": ""
        },
        {
            "id": "MIM:610536",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610536",
            "name": "Mandibulofacial dysostosis with microcephaly",
            "description": "Mandibulofacial dysostosis with microcephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080196"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080196",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080196",
            "categories": []
        },
        {
            "id": "MONDO:0012516",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012516",
            "categories": []
        },
        {
            "id": "MIM:610536",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610536",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O08810-1",
            "uniprot_ac": "O08810",
            "uniprot_id": "U5S1_MOUSE",
            "refseq_ac": "NP_001103465",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "116 kDa U5 small nuclear ribonucleoprotein component",
                    "type": "recommended"
                },
                {
                    "name": "116 kDa U5 small nuclear ribonucleoprotein component isoform b",
                    "type": "synonym"
                },
                {
                    "name": "116 kDa U5 small nuclear ribonucleoprotein component",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor Tu GTP-binding domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "U5 small nuclear ribonucleoprotein 116 kDa",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific protein, 116 kDa",
                    "type": "synonym"
                },
                {
                    "name": "U5-116 kDa",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu GTP-binding domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eftud2",
                    "type": "recommended"
                },
                {
                    "name": "116kDa",
                    "type": "synonym"
                },
                {
                    "name": "Eftud2",
                    "type": "synonym"
                },
                {
                    "name": "Snrp116",
                    "type": "synonym"
                },
                {
                    "name": "U5-116kD",
                    "type": "synonym"
                }
            ],
            "record_id": "O08810-1",
            "evidence": [
                {
                    "id": "0080196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15029-1",
            "uniprot_ac": "Q15029",
            "uniprot_id": "U5S1_HUMAN",
            "refseq_ac": "NP_001136077",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "116 kDa U5 small nuclear ribonucleoprotein component",
                    "type": "recommended"
                },
                {
                    "name": "116 kDa U5 small nuclear ribonucleoprotein component isoform b",
                    "type": "synonym"
                },
                {
                    "name": "116 kDa U5 small nuclear ribonucleoprotein component",
                    "type": "synonym"
                },
                {
                    "name": "Elongation factor Tu GTP-binding domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SNU114 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific protein, 116 kDa",
                    "type": "synonym"
                },
                {
                    "name": "U5-116 kDa",
                    "type": "synonym"
                },
                {
                    "name": "elongation factor Tu GTP-binding domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "hSNU114",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EFTUD2",
                    "type": "recommended"
                },
                {
                    "name": "EFTUD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0031",
                    "type": "synonym"
                },
                {
                    "name": "MFDGA",
                    "type": "synonym"
                },
                {
                    "name": "MFDM",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP116",
                    "type": "synonym"
                },
                {
                    "name": "SNRP116",
                    "type": "synonym"
                },
                {
                    "name": "Snrp116",
                    "type": "synonym"
                },
                {
                    "name": "Snu114",
                    "type": "synonym"
                },
                {
                    "name": "U5-116KD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15029-1",
            "evidence": [
                {
                    "id": "610536",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610536"
                },
                {
                    "id": "0080196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36048-1",
            "uniprot_ac": "P36048",
            "uniprot_id": "SN114_YEAST",
            "refseq_ac": "NP_012748",
            "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": "Pre-mRNA-splicing factor SNU114",
                    "type": "recommended"
                },
                {
                    "name": "114 kDa U5 small nuclear ribonucleoprotein component",
                    "type": "synonym"
                },
                {
                    "name": "Growth inhibitory protein 10",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP GTPase SNU114",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNU114",
                    "type": "recommended"
                },
                {
                    "name": "GIN10",
                    "type": "synonym"
                },
                {
                    "name": "SNU114",
                    "type": "synonym"
                },
                {
                    "name": "YKL637",
                    "type": "synonym"
                }
            ],
            "record_id": "P36048-1",
            "evidence": [
                {
                    "id": "0080196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LM66-1",
            "uniprot_ac": "F1LM66",
            "uniprot_id": "F1LM66_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "116 kDa U5 small nuclear ribonucleoprotein component",
                    "type": "recommended"
                },
                {
                    "name": "U5 snRNP-specific protein, 116 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eftud2",
                    "type": "recommended"
                }
            ],
            "record_id": "F1LM66-1",
            "evidence": [
                {
                    "id": "0080196",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080196"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAX8-1",
            "uniprot_ac": "Q9VAX8",
            "uniprot_id": "Q9VAX8_DROME",
            "refseq_ac": "NP_651605",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "116 kDa U5 small nuclear ribonucleoprotein component",
                    "type": "recommended"
                },
                {
                    "name": "CG4849-PA",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific protein, 116 kDa",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4849",
                    "type": "recommended"
                },
                {
                    "name": "CG4849",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4849",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4849",
                    "type": "synonym"
                },
                {
                    "name": "EFTUD2",
                    "type": "synonym"
                },
                {
                    "name": "Snu114",
                    "type": "synonym"
                },
                {
                    "name": "eEF2",
                    "type": "synonym"
                },
                {
                    "name": "eftud2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAX8-1",
            "evidence": [
                {
                    "id": "0080196",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080196"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080196"
}