{
    "disease_id": "DOID:0070476",
    "recommended_name": {
        "id": "DOID:0070476",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070476",
        "name": "diphthamide deficiency syndrome",
        "description": "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2)."
    },
    "synonyms": [
        {
            "id": "DOID:0070476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070476",
            "name": "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070476",
            "name": "DEDSSH",
            "description": ""
        },
        {
            "id": "DOID:0070476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070476",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1",
            "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 DPH1 gene."
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "developmental delay-short stature-dysmorphic features-sparse hair syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "DEDSSH1",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "developmental delay with short stature, dysmorphic features, and sparse hair 1",
            "description": ""
        },
        {
            "id": "MONDO:0800438",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "name": "diphtamide deficiency syndrome",
            "description": ""
        },
        {
            "id": "MIM:616901",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616901",
            "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 1",
            "description": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070477",
            "label": "diphthamide deficiency syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070478",
            "label": "diphthamide deficiency syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070479",
            "label": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070476",
        "DOID:0070479",
        "DOID:0070477",
        "DOID:0070478"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070476",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070476",
            "categories": []
        },
        {
            "id": "MONDO:0800438",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800438",
            "categories": []
        },
        {
            "id": "MIM:616901",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616901",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q567W6-1",
            "uniprot_ac": "Q567W6",
            "uniprot_id": "DPH1_DANRE",
            "refseq_ac": "NP_001017861",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dph1",
                    "type": "recommended"
                },
                {
                    "name": "dph1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110702",
                    "type": "synonym"
                }
            ],
            "record_id": "Q567W6-1",
            "evidence": [
                {
                    "id": "0070476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A4QN59-1",
            "uniprot_ac": "A4QN59",
            "uniprot_id": "DPH2_DANRE",
            "refseq_ac": "NP_001082866",
            "glycoprotein": "no",
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                {
                    "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": "0070476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5NCQ5-1",
            "uniprot_ac": "Q5NCQ5",
            "uniprot_id": "DPH1_MOUSE",
            "refseq_ac": "NP_652762",
            "glycoprotein": "no",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "DPH1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DPH2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ovarian cancer-associated gene 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 2 homolog-like 1",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "mmDph1",
                    "type": "synonym"
                },
                {
                    "name": "ovarian cancer-associated gene 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph1",
                    "type": "recommended"
                },
                {
                    "name": "2310011M22Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930488F09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dph1",
                    "type": "synonym"
                },
                {
                    "name": "Dph2l1",
                    "type": "synonym"
                },
                {
                    "name": "Ovca1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5NCQ5-1",
            "evidence": [
                {
                    "id": "0070476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070476"
                }
            ]
        },
        {
            "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": "0070476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZG8-4",
            "uniprot_ac": "Q9BZG8",
            "uniprot_id": "DPH1_HUMAN",
            "refseq_ac": "NP_001333505",
            "glycoprotein": "no",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "DPH-like 1",
                    "type": "synonym"
                },
                {
                    "name": "DPH1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "DPH2-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ovarian cancer-associated gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "candidate tumor suppressor in ovarian cancer 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis protein 2 homolog-like 1",
                    "type": "synonym"
                },
                {
                    "name": "diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "ovarian cancer-associated gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "ovarian tumor suppressor candidate 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPH1",
                    "type": "recommended"
                },
                {
                    "name": "DEDSSH",
                    "type": "synonym"
                },
                {
                    "name": "DPH1",
                    "type": "synonym"
                },
                {
                    "name": "DPH2L1",
                    "type": "synonym"
                },
                {
                    "name": "DPH2L",
                    "type": "synonym"
                },
                {
                    "name": "OVCA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZG8-4",
            "evidence": [
                {
                    "id": "616901",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616901"
                },
                {
                    "id": "0070476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40487-1",
            "uniprot_ac": "P40487",
            "uniprot_id": "DPH1_YEAST",
            "refseq_ac": "NP_012163",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "2-(3-amino-3-carboxypropyl)histidine synthase",
                    "type": "synonym"
                },
                {
                    "name": "2.5.1.108",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPH1",
                    "type": "recommended"
                },
                {
                    "name": "DPH1",
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                }
            ],
            "record_id": "P40487-1",
            "evidence": [
                {
                    "id": "0070476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32461-1",
            "uniprot_ac": "P32461",
            "uniprot_id": "DPH2_YEAST",
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            "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",
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                {
                    "id": "0070476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070476"
                }
            ]
        },
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            "uniprot_canonical_ac": "A0A0G2K269-1",
            "uniprot_ac": "A0A0G2K269",
            "uniprot_id": "A0A0G2K269_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": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.5.1.108",
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                },
                {
                    "name": "Diphthamide biosynthesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Diphtheria toxin resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ovarian cancer-associated gene 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2K269-1",
            "evidence": [
                {
                    "id": "0070476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070476"
                }
            ]
        },
        {
            "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"
                }
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    "association_flag": "1000",
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}