{
    "disease_id": "DOID:0070479",
    "recommended_name": {
        "id": "DOID:0070479",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070479",
        "name": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
        "description": "An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070479",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070479",
            "name": "NEDSFF",
            "description": ""
        },
        {
            "id": "MONDO:0859295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859295",
            "name": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
            "description": "A neurodevelopmental disorder in which the cause of the disease is a mutation in the DPH5 gene. It is characterized by craniofacial dysmorphology, profound neurodevelopmental delay, multisystem abnormalities, and miscarriages."
        },
        {
            "id": "MONDO:0859295",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859295",
            "name": "DPH5-related diphthamide-deficiency syndrome",
            "description": ""
        },
        {
            "id": "MIM:620070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620070",
            "name": "Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties",
            "description": "Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070479"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070479",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070479",
            "categories": []
        },
        {
            "id": "MONDO:0859295",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859295",
            "categories": []
        },
        {
            "id": "MIM:620070",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620070",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IU56-1",
            "uniprot_ac": "A0A0R4IU56",
            "uniprot_id": "A0A0R4IU56_DANRE",
            "refseq_ac": "NP_001007387",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "diphthine methyl ester synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.314",
                    "type": "synonym"
                },
                {
                    "name": "DPH5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "diphthine methyl ester synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dph5",
                    "type": "recommended"
                },
                {
                    "name": "dph5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101823",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IU56-1",
            "evidence": [
                {
                    "id": "0070479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CWQ0-1",
            "uniprot_ac": "Q9CWQ0",
            "uniprot_id": "DPH5_MOUSE",
            "refseq_ac": "NP_081469",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diphthine methyl ester synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.314",
                    "type": "synonym"
                },
                {
                    "name": "DPH5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diphthine methyl ester synthase",
                    "type": "synonym"
                },
                {
                    "name": "diphthine synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph5",
                    "type": "recommended"
                },
                {
                    "name": "2410012M04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dph5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CWQ0-1",
            "evidence": [
                {
                    "id": "0070479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2P9-1",
            "uniprot_ac": "Q9H2P9",
            "uniprot_id": "DPH5_HUMAN",
            "refseq_ac": "NP_001070862",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diphthine methyl ester synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.314",
                    "type": "synonym"
                },
                {
                    "name": "DPH5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide biosynthesis methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diphthine methyl ester synthase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "diphthine methyl ester synthase",
                    "type": "synonym"
                },
                {
                    "name": "diphthine synthase",
                    "type": "synonym"
                },
                {
                    "name": "protein x 0011",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPH5",
                    "type": "recommended"
                },
                {
                    "name": "AD-018",
                    "type": "synonym"
                },
                {
                    "name": "CGI-30",
                    "type": "synonym"
                },
                {
                    "name": "DPH5",
                    "type": "synonym"
                },
                {
                    "name": "HSPC143",
                    "type": "synonym"
                },
                {
                    "name": "NEDSFF",
                    "type": "synonym"
                },
                {
                    "name": "NPD015",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2P9-1",
            "evidence": [
                {
                    "id": "620070",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620070"
                },
                {
                    "id": "0070479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32469-1",
            "uniprot_ac": "P32469",
            "uniprot_id": "DPH5_YEAST",
            "refseq_ac": "NP_013273",
            "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": "Diphthine methyl ester synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.314",
                    "type": "synonym"
                },
                {
                    "name": "Diphthamide biosynthesis methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diphthine synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DPH5",
                    "type": "recommended"
                },
                {
                    "name": "DPH5",
                    "type": "synonym"
                },
                {
                    "name": "L9470.17",
                    "type": "synonym"
                }
            ],
            "record_id": "P32469-1",
            "evidence": [
                {
                    "id": "0070479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q569A7-1",
            "uniprot_ac": "Q569A7",
            "uniprot_id": "Q569A7_RAT",
            "refseq_ac": "NP_001017449",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "diphthine methyl ester synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.314",
                    "type": "synonym"
                },
                {
                    "name": "DPH5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "diphthine methyl ester synthase",
                    "type": "synonym"
                },
                {
                    "name": "diphthine synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph5",
                    "type": "recommended"
                },
                {
                    "name": "CGI-30",
                    "type": "synonym"
                },
                {
                    "name": "Dph5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307867",
                    "type": "synonym"
                }
            ],
            "record_id": "Q569A7-1",
            "evidence": [
                {
                    "id": "0070479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070479"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IN02-1",
            "uniprot_ac": "Q8IN02",
            "uniprot_id": "Q8IN02_DROME",
            "refseq_ac": "NP_524452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "diphthine methyl ester synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.314",
                    "type": "synonym"
                },
                {
                    "name": "CG31289-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dph5-PA",
                    "type": "synonym"
                },
                {
                    "name": "diphthamide methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dph5",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA.LD12153",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD12153",
                    "type": "synonym"
                },
                {
                    "name": "CG31289",
                    "type": "synonym"
                },
                {
                    "name": "CG5275",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31289",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31289",
                    "type": "synonym"
                },
                {
                    "name": "Dph5",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L4910",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IN02-1",
            "evidence": [
                {
                    "id": "0070479",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070479"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070479"
}