{
    "disease_id": "DOID:0070738",
    "recommended_name": {
        "id": "DOID:0070738",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070738",
        "name": "Al Kaissi syndrome",
        "description": "An autosomal recessive intellectual developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability that has_material_basis_in homozygous mutation in the CDK10 gene on chromosome 16q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0044324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044324",
            "name": "Al Kaissi syndrome",
            "description": "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})."
        },
        {
            "id": "MONDO:0044324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044324",
            "name": "ALKAS",
            "description": ""
        },
        {
            "id": "MIM:617694",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617694",
            "name": "Al Kaissi syndrome",
            "description": "Al Kaissi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070738"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070738",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070738",
            "categories": []
        },
        {
            "id": "MONDO:0044324",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044324",
            "categories": []
        },
        {
            "id": "MIM:617694",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617694",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q15131-1",
            "uniprot_ac": "Q15131",
            "uniprot_id": "CDK10_HUMAN",
            "refseq_ac": "NP_001092003",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclin-dependent kinase 10",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.22",
                    "type": "synonym"
                },
                {
                    "name": "CDC2-related protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Cell division protein kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase PISSLRE",
                    "type": "synonym"
                },
                {
                    "name": "cell division protein kinase 10",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase (CDC2-like) 10",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase 10 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-dependent kinase related protein",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase PISSLRE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDK10",
                    "type": "recommended"
                },
                {
                    "name": "ALSAS",
                    "type": "synonym"
                },
                {
                    "name": "CDK10",
                    "type": "synonym"
                },
                {
                    "name": "PISSLRE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15131-1",
            "evidence": [
                {
                    "id": "617694",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617694"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070738"
}