{
    "disease_id": "DOID:0070421",
    "recommended_name": {
        "id": "DOID:0070421",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070421",
        "name": "neurodevelopmental disorder with spasticity and poor growth",
        "description": "An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070421",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070421",
            "name": "NEDSG",
            "description": ""
        },
        {
            "id": "MONDO:0060752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060752",
            "name": "neurodevelopmental disorder with spasticity and poor growth",
            "description": ""
        },
        {
            "id": "MONDO:0060752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060752",
            "name": "neurodevelopmental disorder with spasticity and poor growth",
            "description": ""
        },
        {
            "id": "MONDO:0060752",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060752",
            "name": "NEDSG",
            "description": ""
        },
        {
            "id": "MIM:618076",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618076",
            "name": "Neurodevelopmental disorder with spasticity and poor growth",
            "description": "Neurodevelopmental disorder with spasticity and poor growth"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070421"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070421",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070421",
            "categories": []
        },
        {
            "id": "MONDO:0060752",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060752",
            "categories": []
        },
        {
            "id": "MIM:618076",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618076",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DEN0-1",
            "uniprot_ac": "Q6DEN0",
            "uniprot_id": "UFC1_DANRE",
            "refseq_ac": "NP_001003650",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier-conjugating enzyme 1",
                    "type": "recommended"
                },
                {
                    "name": "Ufm1-conjugating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-fold modifier-conjugating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "ufm1-conjugating enzyme 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ufc1",
                    "type": "recommended"
                },
                {
                    "name": "dkey-71l1.2",
                    "type": "synonym"
                },
                {
                    "name": "ufc1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100800",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DEN0-1",
            "evidence": [
                {
                    "id": "0070421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CR09-1",
            "uniprot_ac": "Q9CR09",
            "uniprot_id": "UFC1_MOUSE",
            "refseq_ac": "NP_079664",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier-conjugating enzyme 1",
                    "type": "recommended"
                },
                {
                    "name": "Ufm1-conjugating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-fold modifier-conjugating enzyme 1 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufc1",
                    "type": "recommended"
                },
                {
                    "name": "1110021H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "ESTM29",
                    "type": "synonym"
                },
                {
                    "name": "Ufc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR09-1",
            "evidence": [
                {
                    "id": "0070421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3C8-1",
            "uniprot_ac": "Q9Y3C8",
            "uniprot_id": "UFC1_HUMAN",
            "refseq_ac": "NP_057490",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier-conjugating enzyme 1",
                    "type": "recommended"
                },
                {
                    "name": "Ufm1-conjugating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-fold modifier-conjugating enzyme 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UFC1",
                    "type": "recommended"
                },
                {
                    "name": "CGI-126",
                    "type": "synonym"
                },
                {
                    "name": "HSPC155",
                    "type": "synonym"
                },
                {
                    "name": "NEDSG",
                    "type": "synonym"
                },
                {
                    "name": "UFC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3C8-1",
            "evidence": [
                {
                    "id": "618076",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618076"
                },
                {
                    "id": "0070421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6BBI8-1",
            "uniprot_ac": "Q6BBI8",
            "uniprot_id": "UFC1_RAT",
            "refseq_ac": "NP_001003709",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier-conjugating enzyme 1",
                    "type": "recommended"
                },
                {
                    "name": "Ufm1-conjugating enzyme 1-",
                    "type": "synonym"
                },
                {
                    "name": "Ufm1-conjugating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-fold modifier-conjugating enzyme 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ufm1-conjugating enzyme 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufc1",
                    "type": "recommended"
                },
                {
                    "name": "Ufc1",
                    "type": "synonym"
                },
                {
                    "name": "ufc1-s",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6BBI8-1",
            "evidence": [
                {
                    "id": "0070421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7K1Z5-1",
            "uniprot_ac": "Q7K1Z5",
            "uniprot_id": "UFC1_DROME",
            "refseq_ac": "NP_611074",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-fold modifier-conjugating enzyme 1",
                    "type": "recommended"
                },
                {
                    "name": "CG8386-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-fold modifier conjugating enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Ufc1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ufm1-conjugating enzyme 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ufc1",
                    "type": "recommended"
                },
                {
                    "name": "CG8386",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8386",
                    "type": "synonym"
                },
                {
                    "name": "Ufc1",
                    "type": "synonym"
                },
                {
                    "name": "dUFC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7K1Z5-1",
            "evidence": [
                {
                    "id": "0070421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070421"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070421"
}