{
    "disease_id": "DOID:0081206",
    "recommended_name": {
        "id": "DOID:0081206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081206",
        "name": "autosomal recessive intellectual developmental disorder 41",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014289",
            "name": "macrocephaly-developmental delay syndrome",
            "description": "Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally."
        },
        {
            "id": "MONDO:0014289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014289",
            "name": "intellectual disability, autosomal recessive type 41",
            "description": ""
        },
        {
            "id": "MONDO:0014289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014289",
            "name": "mental retardation, autosomal recessive type 41",
            "description": ""
        },
        {
            "id": "MONDO:0014289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014289",
            "name": "MRT41",
            "description": ""
        },
        {
            "id": "MONDO:0014289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014289",
            "name": "intellectual disability, autosomal recessive 41",
            "description": ""
        },
        {
            "id": "MONDO:0014289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014289",
            "name": "mental retardation, autosomal recessive 41",
            "description": ""
        },
        {
            "id": "MIM:615637",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615637",
            "name": "Intellectual developmental disorder, autosomal recessive 41",
            "description": "Intellectual developmental disorder, autosomal recessive 41"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081206"
    ],
    "unlinked_id_list": []
}