{
    "disease_id": "DOID:0070716",
    "recommended_name": {
        "id": "DOID:0070716",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070716",
        "name": "progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia",
        "description": "A congenital nervous system abnormality characterized by severe to profound global developmental delay with inability to sit or walk independently, almost no cognitive development, poor visual fixation, and absent speech; progressive, severe microcephaly; and notable structural brain abnormalities apparent on brain imaging, including simplified gyral pattern, lissencephaly, partial or complete agenesis of the corpus callosum, enlarged ventricles, and cerebellar hypoplasia, that has_material_basis_in heterozygous mutation in the CRNKL1 gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070716",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070716",
            "name": "MGCH",
            "description": ""
        },
        {
            "id": "MONDO:0980935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980935",
            "name": "microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070716"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070716",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070716",
            "categories": []
        },
        {
            "id": "MONDO:0980935",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980935",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BZJ0-1",
            "uniprot_ac": "Q9BZJ0",
            "uniprot_id": "CRNL1_HUMAN",
            "refseq_ac": "NP_001265554",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Crooked neck-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Crn, crooked neck-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Crooked neck homolog",
                    "type": "synonym"
                },
                {
                    "name": "SYF3 pre-mRNA-splicing factor",
                    "type": "synonym"
                },
                {
                    "name": "crooked neck homolog",
                    "type": "synonym"
                },
                {
                    "name": "crooked neck pre-mRNA splicing factor-like 1",
                    "type": "synonym"
                },
                {
                    "name": "crooked neck-like 1",
                    "type": "synonym"
                },
                {
                    "name": "crooked neck-like protein 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "crooked neck-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hCrn",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRNKL1",
                    "type": "recommended"
                },
                {
                    "name": "CGI-201",
                    "type": "synonym"
                },
                {
                    "name": "CLF",
                    "type": "synonym"
                },
                {
                    "name": "CRNKL1",
                    "type": "synonym"
                },
                {
                    "name": "CRN",
                    "type": "synonym"
                },
                {
                    "name": "Clf1",
                    "type": "synonym"
                },
                {
                    "name": "HCRN",
                    "type": "synonym"
                },
                {
                    "name": "MGCH",
                    "type": "synonym"
                },
                {
                    "name": "MSTP021",
                    "type": "synonym"
                },
                {
                    "name": "SYF3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZJ0-1",
            "evidence": [
                {
                    "id": "621436",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621436"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070716"
}