{
    "disease_id": "DOID:0070294",
    "recommended_name": {
        "id": "DOID:0070294",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070294",
        "name": "primary autosomal recessive microcephaly 10",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070294",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070294",
            "name": "MCPH10",
            "description": ""
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "microcephalic primordial dwarfism due to ZNF335 deficiency",
            "description": "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur."
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "microcephalic primordial dwarfism, Walsh type",
            "description": ""
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "MCPH10",
            "description": ""
        },
        {
            "id": "MONDO:0014043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "name": "microcephaly 10, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:615095",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615095",
            "name": "Microcephaly 10, primary, autosomal recessive",
            "description": "Microcephaly 10, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070294"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070294",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070294",
            "categories": []
        },
        {
            "id": "MONDO:0014043",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014043",
            "categories": []
        },
        {
            "id": "MIM:615095",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615095",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BEI4-1",
            "uniprot_ac": "A0A8M2BEI4",
            "uniprot_id": "A0A8M2BEI4_DANRE",
            "refseq_ac": "XP_005167155",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 335 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 335 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "znf335",
                    "type": "recommended"
                },
                {
                    "name": "znf335",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BEI4-1",
            "evidence": [
                {
                    "id": "0070294",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070294"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A5K6-1",
            "uniprot_ac": "A2A5K6",
            "uniprot_id": "ZN335_MOUSE",
            "refseq_ac": "NP_950192",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 335",
                    "type": "recommended"
                },
                {
                    "name": "NIF-1",
                    "type": "synonym"
                },
                {
                    "name": "NRC-interacting factor 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 335",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp335",
                    "type": "recommended"
                },
                {
                    "name": "Znf335",
                    "type": "recommended"
                },
                {
                    "name": "1810045J01Rik",
                    "type": "synonym"
                },
                {
                    "name": "NIF-1",
                    "type": "synonym"
                },
                {
                    "name": "Nif1",
                    "type": "synonym"
                },
                {
                    "name": "Zfp335",
                    "type": "synonym"
                },
                {
                    "name": "Znf335",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A5K6-1",
            "evidence": [
                {
                    "id": "0070294",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070294"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4Z2-1",
            "uniprot_ac": "Q9H4Z2",
            "uniprot_id": "ZN335_HUMAN",
            "refseq_ac": "NP_071378",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 335",
                    "type": "recommended"
                },
                {
                    "name": "NIF-1",
                    "type": "synonym"
                },
                {
                    "name": "NRC-interacting factor 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 335",
                    "type": "synonym"
                },
                {
                    "name": "zinc-finger/leucine-zipper co-transducer NIF1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZNF335",
                    "type": "recommended"
                },
                {
                    "name": "MCPH10",
                    "type": "synonym"
                },
                {
                    "name": "NIF-1",
                    "type": "synonym"
                },
                {
                    "name": "NIF1",
                    "type": "synonym"
                },
                {
                    "name": "NIF2",
                    "type": "synonym"
                },
                {
                    "name": "ZNF335",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4Z2-1",
            "evidence": [
                {
                    "id": "615095",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615095"
                },
                {
                    "id": "0070294",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070294"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V893-1",
            "uniprot_ac": "G3V893",
            "uniprot_id": "ZN335_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 335",
                    "type": "recommended"
                },
                {
                    "name": "NIF-1",
                    "type": "synonym"
                },
                {
                    "name": "NRC-interacting factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp335",
                    "type": "recommended"
                },
                {
                    "name": "Znf335",
                    "type": "recommended"
                },
                {
                    "name": "Zfp335",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V893-1",
            "evidence": [
                {
                    "id": "0070294",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070294"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH18-1",
            "uniprot_ac": "Q9VH18",
            "uniprot_id": "Q9VH18_DROME",
            "refseq_ac": "NP_649983",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein weckle",
                    "type": "recommended"
                },
                {
                    "name": "CG6254-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG6254",
                    "type": "recommended"
                },
                {
                    "name": "CG6254",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6254",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6254",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH18-1",
            "evidence": [
                {
                    "id": "0070294",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070294"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W137-1",
            "uniprot_ac": "Q9W137",
            "uniprot_id": "Q9W137_DROME",
            "refseq_ac": "NP_611944",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C2H2-type domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4707-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cg4707",
                    "type": "recommended"
                },
                {
                    "name": "CG4707",
                    "type": "synonym"
                },
                {
                    "name": "Cg4707",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4707",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4707",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W137-1",
            "evidence": [
                {
                    "id": "0070294",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070294"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIS9-1",
            "uniprot_ac": "Q9VIS9",
            "uniprot_id": "Q9VIS9_DROME",
            "refseq_ac": "NP_609995",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein weckle",
                    "type": "recommended"
                },
                {
                    "name": "CG10366-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10366",
                    "type": "recommended"
                },
                {
                    "name": "CG10366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10366",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10366",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIS9-1",
            "evidence": [
                {
                    "id": "0070294",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070294"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070294"
}