{
    "disease_id": "DOID:0060308",
    "recommended_name": {
        "id": "DOID:0060308",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060308",
        "name": "autosomal recessive intellectual developmental disorder",
        "description": "A intellectual disability characterized by an autosomal recessive inheritance pattern."
    },
    "synonyms": [
        {
            "id": "DOID:0060308",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060308",
            "name": "autosomal recessive non-syndromic mental retardation",
            "description": ""
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            "id": "DOID:0060308",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060308",
            "name": "autosomal recessive mental retardation",
            "description": ""
        },
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            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "intellectual disability, autosomal recessive 1",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene."
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "PRSS12 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "intellectual disability, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "intellectual disability, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "mental retardation, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "MRT1",
            "description": ""
        },
        {
            "id": "MONDO:0009580",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009580",
            "name": "mental retardation, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MIM:249500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/249500",
            "name": "Intellectual developmental disorder, autosomal recessive 1",
            "description": "Intellectual developmental disorder, autosomal recessive 1"
        }
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        {
            "id": "DOID:0051030",
            "label": "neurodevelopmental disorder with microcephaly, absent speech, and hypotonia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0051076",
            "label": "neurodevelopmental disorder with parkinsonism or other movement abnormalities",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060934",
            "label": "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060935",
            "label": "infantile hypotonia with psychomotor retardation and characteristic facies-3",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0060947",
            "label": "autosomal recessive intellectual developmental disorder 82",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061114",
            "label": "autosomal recessive intellectual developmental disorder 83",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061126",
            "label": "Brunet-Wagner neurodevelopmental syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061158",
            "label": "Kariminejad neurodevelopmental syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061252",
            "label": "neurodevelopmental disorder with hypotonia, epilepsy, and absent speech",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070421",
            "label": "neurodevelopmental disorder with spasticity and poor growth",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070423",
            "label": "early onset progressive encephalopathy with brain atrophy and thin corpus callosum",
            "link_status": true,
            "children": []
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            "id": "DOID:0070431",
            "label": "hyperphosphatasia with impaired intellectual development syndrome",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0070432",
                    "label": "hyperphosphatasia with impaired intellectual development syndrome 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070433",
                    "label": "hyperphosphatasia with impaired intellectual development syndrome 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070434",
                    "label": "hyperphosphatasia with impaired intellectual development syndrome 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0070435",
                    "label": "hyperphosphatasia with impaired intellectual development syndrome 3",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0070436",
                    "label": "hyperphosphatasia with impaired intellectual development syndrome 4",
                    "link_status": true,
                    "children": []
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                {
                    "id": "DOID:0070437",
                    "label": "hyperphosphatasia with impaired intellectual development syndrome 6",
                    "link_status": true,
                    "children": []
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        {
            "id": "DOID:0070443",
            "label": "neurodevelopmental disorder with cerebellar atrophy and motor dysfunction",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070444",
            "label": "neurodevelopmental disorder with language delay and seizures",
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            "children": []
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        {
            "id": "DOID:0070537",
            "label": "spastic tetraplegia, thin corpus callosum, and progressive microcephaly",
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            "id": "DOID:0070542",
            "label": "neurodevelopmental disorder with spastic paraplegia and microcephaly",
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            "children": []
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            "id": "DOID:0070696",
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            "children": []
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        {
            "id": "DOID:0070697",
            "label": "neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter",
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            "children": []
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        {
            "id": "DOID:0070712",
            "label": "developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070738",
            "label": "Al Kaissi syndrome",
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            "children": []
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            "id": "DOID:0070739",
            "label": "autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures",
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            "children": []
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        {
            "id": "DOID:0070740",
            "label": "cerebellar atrophy, developmental delay, and seizures",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070741",
            "label": "cerebellar atrophy with seizures and variable developmental delay",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070745",
            "label": "early-onset progressive encephalopathy with brain atrophy and spasticity",
            "link_status": true,
            "children": []
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        {
            "id": "DOID:0070751",
            "label": "mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070754",
            "label": "neurodevelopmental disorder with microcephaly, ataxia, and seizures",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070755",
            "label": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080239",
            "label": "autosomal recessive intellectual developmental disorder 61",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080765",
            "label": "autosomal recessive intellectual developmental disorder 72",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081097",
            "label": "Rafiq syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081098",
            "label": "autosomal recessive intellectual developmental disorder 13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081099",
            "label": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081177",
            "label": "autosomal recessive intellectual developmental disorder 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081178",
            "label": "autosomal recessive intellectual developmental disorder 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081179",
            "label": "autosomal recessive intellectual developmental disorder 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081180",
            "label": "autosomal recessive intellectual developmental disorder 12",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081181",
            "label": "autosomal recessive intellectual developmental disorder 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081182",
            "label": "autosomal recessive intellectual developmental disorder 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081183",
            "label": "autosomal recessive intellectual developmental disorder 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081188",
            "label": "autosomal recessive intellectual developmental disorder 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081190",
            "label": "autosomal recessive intellectual developmental disorder 18",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081193",
            "label": "autosomal recessive intellectual developmental disorder 27",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081200",
            "label": "autosomal recessive intellectual developmental disorder 34",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081202",
            "label": "autosomal recessive intellectual developmental disorder 37",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081203",
            "label": "autosomal recessive intellectual developmental disorder 38",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081204",
            "label": "autosomal recessive intellectual developmental disorder 39",
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            "children": []
        },
        {
            "id": "DOID:0081205",
            "label": "autosomal recessive intellectual developmental disorder 40",
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            "children": []
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            "id": "DOID:0081206",
            "label": "autosomal recessive intellectual developmental disorder 41",
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            "id": "DOID:0081207",
            "label": "autosomal recessive intellectual developmental disorder 43",
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            "id": "DOID:0081208",
            "label": "autosomal recessive intellectual developmental disorder 44",
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            "id": "DOID:0081209",
            "label": "autosomal recessive intellectual developmental disorder 45",
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            "id": "DOID:0081210",
            "label": "autosomal recessive intellectual developmental disorder 46",
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            "id": "DOID:0081211",
            "label": "autosomal recessive intellectual developmental disorder 47",
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            "id": "DOID:0081212",
            "label": "autosomal recessive intellectual developmental disorder 48",
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            "children": []
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        {
            "id": "DOID:0081213",
            "label": "autosomal recessive intellectual developmental disorder 50",
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            "children": []
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            "id": "DOID:0081214",
            "label": "autosomal recessive intellectual developmental disorder 51",
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            "label": "autosomal recessive intellectual developmental disorder 74",
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            "label": "autosomal recessive intellectual developmental disorder 58",
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            "label": "autosomal recessive intellectual developmental disorder 59",
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            "id": "DOID:0081223",
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            "label": "autosomal recessive intellectual developmental disorder 65",
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            "label": "autosomal recessive intellectual developmental disorder 66",
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            "id": "DOID:0081228",
            "label": "autosomal recessive intellectual developmental disorder 67",
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            "id": "DOID:0081229",
            "label": "autosomal recessive intellectual developmental disorder 68",
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            "label": "autosomal recessive intellectual developmental disorder 70",
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            "id": "DOID:0081232",
            "label": "autosomal recessive intellectual developmental disorder 71",
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            "id": "DOID:0081233",
            "label": "autosomal recessive intellectual developmental disorder 73",
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            "id": "DOID:0081234",
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            "label": "autosomal recessive intellectual developmental disorder 77",
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            "id": "DOID:0081263",
            "label": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
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            "id": "DOID:0081265",
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            "id": "DOID:0081324",
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            "id": "DOID:0081387",
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            "id": "DOID:0081444",
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