{
    "disease_id": "DOID:0050460",
    "recommended_name": {
        "id": "DOID:0050460",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050460",
        "name": "Wolf-Hirschhorn syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0050460",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050460",
            "name": "4p deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050460",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050460",
            "name": "PITT SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0050460",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050460",
            "name": "Pitt-Rogers-Danks Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050460",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050460",
            "name": "chromosome 4p16.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "Wolf-Hirschhorn syndrome",
            "description": "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia."
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "4p deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "4p- syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "Pitt syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "Pitt-Rogers-Danks syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "Wittwer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "Wolf-Hirschhorn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "Wolf-Hirschhorn syndrome, Isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "chromosome 4p16.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "distal deletion 4p",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "distal monosomy 4p",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "telomeric deletion 4p",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "4p syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "WHS",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "Wolf syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "chromosome 4p syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008684",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "name": "microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
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    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050460",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050460",
            "categories": []
        },
        {
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008684",
            "categories": []
        }
    ],
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                {
                    "name": "zgc:109969",
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                    "name": "Danio rerio",
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                }
            ],
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                    "name": "2.1.1.354",
                    "type": "synonym"
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                {
                    "name": "Histone-lysine N-methyltransferase NSD2",
                    "type": "synonym"
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                {
                    "name": "Wolf-Hirschhorn syndrome candidate 1",
                    "type": "synonym"
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                    "name": "wu:fi20c01",
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                    "id": "0050460",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
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        },
        {
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                    "name": "Mus musculus",
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                }
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                {
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                {
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                {
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                {
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                {
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                {
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            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQQ5-1",
            "uniprot_ac": "Q5PQQ5",
            "uniprot_id": "LETM2_RAT",
            "refseq_ac": "NP_001012158",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "LETM1 domain-containing protein LETM2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "LETM1 and EF-hand domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "LETM1 domain-containing protein LETM2, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "LETM1 domain-containing protein LETM2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Leucine zipper-EF-hand-containing transmembrane protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper-, EF-hand motif- containing transmembrane protein 2S",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper-, EF-hand motif- containing transmembrane protein 2",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper-EF-hand containing transmembrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Letm2",
                    "type": "recommended"
                },
                {
                    "name": "LETM2S",
                    "type": "synonym"
                },
                {
                    "name": "Letm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQQ5-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TQM3-1",
            "uniprot_ac": "Q7TQM3",
            "uniprot_id": "FGRL1_RAT",
            "refseq_ac": "NP_954545",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor-like 1",
                    "type": "recommended"
                },
                {
                    "name": "FGF receptor-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-L-iduronidase",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor-like 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgfrl1",
                    "type": "recommended"
                },
                {
                    "name": "Fgfr5",
                    "type": "synonym"
                },
                {
                    "name": "Fgfrl1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TQM3-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A9J4-1",
            "uniprot_ac": "D4A9J4",
            "uniprot_id": "D4A9J4_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": "Histone-lysine N-methyltransferase NSD2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.357",
                    "type": "synonym"
                },
                {
                    "name": "H3-K36-HMTase",
                    "type": "synonym"
                },
                {
                    "name": "Histone-lysine N-methyltransferase, H3 lysine-36 specific",
                    "type": "synonym"
                },
                {
                    "name": "Multiple myeloma SET domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor-binding SET domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsd2",
                    "type": "recommended"
                },
                {
                    "name": "Whsc1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A9J4-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01818-1",
            "uniprot_ac": "Q01818",
            "uniprot_id": "VMAT1_RAT",
            "refseq_ac": "NP_037284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromaffin granule amine transporter",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 18 member 1",
                    "type": "synonym"
                },
                {
                    "name": "VAT1",
                    "type": "synonym"
                },
                {
                    "name": "VMAT1",
                    "type": "synonym"
                },
                {
                    "name": "Vesicular amine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "chromaffin granule amine transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 (vesicular monoamine transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 (vesicular monoamine), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 18 member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family18 (vesicular monoamine) member 1 (chromaffin granule amine transporter)",
                    "type": "synonym"
                },
                {
                    "name": "vesicular amine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "vesicular monoamine transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc18a1",
                    "type": "recommended"
                },
                {
                    "name": "CGAT",
                    "type": "synonym"
                },
                {
                    "name": "Cgat",
                    "type": "synonym"
                },
                {
                    "name": "Slc18a1",
                    "type": "synonym"
                },
                {
                    "name": "VMAT-1",
                    "type": "synonym"
                },
                {
                    "name": "Vmat1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01818-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91927-1",
            "uniprot_ac": "P91927",
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            "refseq_ac": "NP_611922",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial proton/calcium exchanger protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4589-PB",
                    "type": "synonym"
                },
                {
                    "name": "LETM1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Letm1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Leucine zipper-EF-hand-containing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dLetm1",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) k10502",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper and EF-hand containing transmembrane protein 1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Letm1",
                    "type": "recommended"
                },
                {
                    "name": "B4D",
                    "type": "synonym"
                },
                {
                    "name": "CG4589",
                    "type": "synonym"
                },
                {
                    "name": "DmLETM1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4589",
                    "type": "synonym"
                },
                {
                    "name": "Letm1",
                    "type": "synonym"
                },
                {
                    "name": "anon-60Da",
                    "type": "synonym"
                },
                {
                    "name": "anon60Da",
                    "type": "synonym"
                },
                {
                    "name": "dLetm1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10502",
                    "type": "synonym"
                },
                {
                    "name": "letm1",
                    "type": "synonym"
                }
            ],
            "record_id": "P91927-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IN19-1",
            "uniprot_ac": "Q8IN19",
            "uniprot_id": "Q8IN19_DROME",
            "refseq_ac": "NP_001247231",
            "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-tyrosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG31431-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG13414",
                    "type": "recommended"
                },
                {
                    "name": "CG13414",
                    "type": "synonym"
                },
                {
                    "name": "CG31431",
                    "type": "synonym"
                },
                {
                    "name": "CT32770",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31431",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31431",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IN19-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MT36-1",
            "uniprot_ac": "Q8MT36",
            "uniprot_id": "NSD_DROME",
            "refseq_ac": "NP_733239",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor binding SET domain protein",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.357",
                    "type": "synonym"
                },
                {
                    "name": "CG4976-PA",
                    "type": "synonym"
                },
                {
                    "name": "Maternal-effect sterile 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mes-4",
                    "type": "synonym"
                },
                {
                    "name": "NSD-PA",
                    "type": "synonym"
                },
                {
                    "name": "Probable histone-lysine N-methyltransferase Mes-4",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor binding SET domain protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSD",
                    "type": "recommended"
                },
                {
                    "name": "CG4976",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4976",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4976",
                    "type": "synonym"
                },
                {
                    "name": "MES-4",
                    "type": "synonym"
                },
                {
                    "name": "Mes-4",
                    "type": "synonym"
                },
                {
                    "name": "NSD",
                    "type": "synonym"
                },
                {
                    "name": "dMES-4",
                    "type": "synonym"
                },
                {
                    "name": "dMes-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MT36-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95202-1",
            "uniprot_ac": "O95202",
            "uniprot_id": "LETM1_HUMAN",
            "refseq_ac": "NP_036450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial proton/calcium exchanger protein",
                    "type": "recommended"
                },
                {
                    "name": "Electroneutral mitochondrial K(+)/H(+)exchanger",
                    "type": "synonym"
                },
                {
                    "name": "KHE",
                    "type": "synonym"
                },
                {
                    "name": "LETM1 and EF-hand domain-containing protein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Leucine zipper-EF-hand-containing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mdm38 homolog",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral mitochondrial K(+)/H(+)exchanger",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper-EF-hand containing transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial proton/calcium exchanger protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial proton/calcium exchanger protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LETM1",
                    "type": "recommended"
                },
                {
                    "name": "CONDMIM",
                    "type": "synonym"
                },
                {
                    "name": "KHE",
                    "type": "synonym"
                },
                {
                    "name": "LETM1",
                    "type": "synonym"
                },
                {
                    "name": "Mdm38",
                    "type": "synonym"
                },
                {
                    "name": "SLC55A1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95202-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2VYF4-1",
            "uniprot_ac": "Q2VYF4",
            "uniprot_id": "LETM2_HUMAN",
            "refseq_ac": "NP_001186588",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "LETM1 domain-containing protein LETM2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "LETM1 and EF-hand domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "LETM1 domain-containing protein LETM2, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "LETM1 domain-containing protein LETM2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Leucine zipper-EF-hand-containing transmembrane protein 1-like",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper-EF-hand containing transmembrane protein 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper-EF-hand containing transmembrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LETM2",
                    "type": "recommended"
                },
                {
                    "name": "LETM2",
                    "type": "synonym"
                },
                {
                    "name": "SLC55A2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2VYF4-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N441-1",
            "uniprot_ac": "Q8N441",
            "uniprot_id": "FGRL1_HUMAN",
            "refseq_ac": "NP_001004356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor-like 1",
                    "type": "recommended"
                },
                {
                    "name": "FGF homologous factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-5",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast growth factor receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor-like 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGFRL1",
                    "type": "recommended"
                },
                {
                    "name": "FGFR-5",
                    "type": "synonym"
                },
                {
                    "name": "FGFR5",
                    "type": "synonym"
                },
                {
                    "name": "FGFRL1",
                    "type": "synonym"
                },
                {
                    "name": "FHFR",
                    "type": "synonym"
                },
                {
                    "name": "PRO943",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N441-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96028-1",
            "uniprot_ac": "O96028",
            "uniprot_id": "NSD2_HUMAN",
            "refseq_ac": "NP_001035889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase NSD2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.357",
                    "type": "synonym"
                },
                {
                    "name": "IL5 promoter REII region-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "MMSET",
                    "type": "synonym"
                },
                {
                    "name": "Multiple myeloma SET domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein trithorax-5",
                    "type": "synonym"
                },
                {
                    "name": "Wolf-Hirschhorn syndrome candidate 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Wolf-Hirschhorn syndrome candidate 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase NSD2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple myeloma SET domain containing protein type III",
                    "type": "synonym"
                },
                {
                    "name": "nuclear SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "probable histone-lysine N-methyltransferase NSD2",
                    "type": "synonym"
                },
                {
                    "name": "trithorax/ash1-related protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSD2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1090",
                    "type": "synonym"
                },
                {
                    "name": "KMT3F",
                    "type": "synonym"
                },
                {
                    "name": "KMT3G",
                    "type": "synonym"
                },
                {
                    "name": "MMSET",
                    "type": "synonym"
                },
                {
                    "name": "NSD2",
                    "type": "synonym"
                },
                {
                    "name": "RAUST",
                    "type": "synonym"
                },
                {
                    "name": "REIIBP",
                    "type": "synonym"
                },
                {
                    "name": "TRX5",
                    "type": "synonym"
                },
                {
                    "name": "WHSC1",
                    "type": "synonym"
                },
                {
                    "name": "WHS",
                    "type": "synonym"
                }
            ],
            "record_id": "O96028-1",
            "evidence": [
                {
                    "id": "0050460",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050460"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050460"
}