{
    "disease_id": "DOID:0070478",
    "recommended_name": {
        "id": "DOID:0070478",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070478",
        "name": "diphthamide deficiency syndrome 2",
        "description": "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070478",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070478",
            "name": "DEDSSH2",
            "description": ""
        },
        {
            "id": "DOID:0070478",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070478",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 2",
            "description": ""
        },
        {
            "id": "MONDO:0100217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100217",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 2",
            "description": "Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene."
        },
        {
            "id": "MONDO:0100217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100217",
            "name": "DEDSSH2",
            "description": ""
        },
        {
            "id": "MONDO:0100217",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100217",
            "name": "diphthamide deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:620062",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620062",
            "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2",
            "description": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070478"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070478",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070478",
            "categories": []
        },
        {
            "id": "MONDO:0100217",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100217",
            "categories": []
        },
        {
            "id": "MIM:620062",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620062",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A4QN59-1",
            "uniprot_ac": "A4QN59",
            "uniprot_id": "DPH2_DANRE",
            "refseq_ac": "NP_001082866",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dph2",
                    "type": "recommended"
                },
                {
                    "name": "dph2",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5058",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162269",
                    "type": "synonym"
                }
            ],
            "record_id": "A4QN59-1",
            "evidence": [
                {
                    "id": "0070478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CR25-1",
            "uniprot_ac": "Q9CR25",
            "uniprot_id": "DPH2_MOUSE",
            "refseq_ac": "NP_080620",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "DPH2-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "MmDph2",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase DPH2",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 2 homolog-like 2",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph2",
                    "type": "recommended"
                },
                {
                    "name": "9130020C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dph2l2",
                    "type": "synonym"
                },
                {
                    "name": "Dph2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR25-1",
            "evidence": [
                {
                    "id": "0070478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQC3-1",
            "uniprot_ac": "Q9BQC3",
            "uniprot_id": "DPH2_HUMAN",
            "refseq_ac": "NP_001034678",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "DPH2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DPH2-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 2 homolog-like 2",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "diptheria toxin resistance protein required for diphthamide biosynthesis-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPH2",
                    "type": "recommended"
                },
                {
                    "name": "DEDSSH2",
                    "type": "synonym"
                },
                {
                    "name": "DPH2L2",
                    "type": "synonym"
                },
                {
                    "name": "DPH2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQC3-1",
            "evidence": [
                {
                    "id": "620062",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620062"
                },
                {
                    "id": "0070478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32461-1",
            "uniprot_ac": "P32461",
            "uniprot_id": "DPH2_YEAST",
            "refseq_ac": "NP_012730",
            "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": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPH2",
                    "type": "recommended"
                },
                {
                    "name": "DPH2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32461-1",
            "evidence": [
                {
                    "id": "0070478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q568Y2-1",
            "uniprot_ac": "Q568Y2",
            "uniprot_id": "DPH2_RAT",
            "refseq_ac": "NP_001015007",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "DPH2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 2",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph2",
                    "type": "recommended"
                },
                {
                    "name": "Dph2l2",
                    "type": "synonym"
                },
                {
                    "name": "Dph2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q568Y2-1",
            "evidence": [
                {
                    "id": "0070478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47967-1",
            "uniprot_ac": "P47967",
            "uniprot_id": "LEG5_RAT",
            "refseq_ac": "NP_037108",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Galectin-5",
                    "type": "recommended"
                },
                {
                    "name": "Gal-5",
                    "type": "synonym"
                },
                {
                    "name": "RL-18",
                    "type": "synonym"
                },
                {
                    "name": "gal-5",
                    "type": "synonym"
                },
                {
                    "name": "galectin-5",
                    "type": "synonym"
                },
                {
                    "name": "lectin, galactose binding, soluble 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lgals5",
                    "type": "recommended"
                },
                {
                    "name": "Lgals5",
                    "type": "synonym"
                }
            ],
            "record_id": "P47967-1",
            "evidence": [
                {
                    "id": "0070478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070478"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFE9-1",
            "uniprot_ac": "Q9VFE9",
            "uniprot_id": "Q9VFE9_DROME",
            "refseq_ac": "NP_650402",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "CG7265-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dph2-PA",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph2",
                    "type": "recommended"
                },
                {
                    "name": "CG7265",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7265",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7265",
                    "type": "synonym"
                },
                {
                    "name": "Dph2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFE9-1",
            "evidence": [
                {
                    "id": "0070478",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070478"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070478"
}