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        "disease_id": "DOID:0111527",
        "recommended_name": "spinal muscular atrophy with progressive myoclonic epilepsy",
        "synonyms": [
            {
                "id": "DOID:0111527",
                "name": "Jankovic-Rivera syndrome"
            },
            {
                "id": "DOID:0111527",
                "name": "SMA-PME"
            },
            {
                "id": "DOID:0111527",
                "name": "SMAPME"
            },
            {
                "id": "DOID:0111527",
                "name": "hereditary myoclonus-progressive distal muscular atrophy syndrome"
            },
            {
                "id": "MONDO:0008045",
                "name": "spinal muscular atrophy-progressive myoclonic epilepsy syndrome"
            },
            {
                "id": "MONDO:0008045",
                "name": "Jankovic-Rivera syndrome"
            },
            {
                "id": "MONDO:0008045",
                "name": "hereditary myoclonus-progressive distal muscular atrophy syndrome"
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            {
                "id": "MONDO:0008045",
                "name": "Jankovic Rivera syndrome"
            },
            {
                "id": "MONDO:0008045",
                "name": "SMAPME"
            },
            {
                "id": "MONDO:0008045",
                "name": "hereditary myoclonus and progressive distal muscular atrophy"
            },
            {
                "id": "MONDO:0008045",
                "name": "myoclonus hereditary progressive distal muscular atrophy"
            },
            {
                "id": "MONDO:0008045",
                "name": "spinal muscular atrophy with progressive myoclonic epilepsy"
            },
            {
                "id": "MIM:159950",
                "name": "Spinal muscular atrophy with progressive myoclonic epilepsy"
            }
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    {
        "record_id": "doid.0111528",
        "disease_id": "DOID:0111528",
        "recommended_name": "Naegeli-Franceschetti-Jadassohn syndrome",
        "synonyms": [
            {
                "id": "DOID:0111528",
                "name": "NFJ syndrome"
            },
            {
                "id": "DOID:0111528",
                "name": "Naegeli syndrome"
            },
            {
                "id": "MONDO:0008059",
                "name": "Naegeli-Franceschetti-Jadassohn syndrome"
            },
            {
                "id": "MONDO:0008059",
                "name": "NFJ syndrome"
            },
            {
                "id": "MONDO:0008059",
                "name": "Naegeli syndrome"
            },
            {
                "id": "MONDO:0008059",
                "name": "Naegeli-Franceschetti-Jadassohn syndrome"
            },
            {
                "id": "MONDO:0008059",
                "name": "NFJS"
            },
            {
                "id": "MONDO:0008059",
                "name": "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy"
            },
            {
                "id": "MIM:161000",
                "name": "Naegeli-Franceschetti-Jadassohn syndrome"
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        "record_type": "disease",
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        "disease_id": "DOID:0111529",
        "recommended_name": "familial multiple nevi flammei",
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            {
                "id": "DOID:0111529",
                "name": "CMC"
            },
            {
                "id": "DOID:0111529",
                "name": "congenital capillary malformations"
            },
            {
                "id": "DOID:0111529",
                "name": "familial multiple port-wine stains"
            },
            {
                "id": "MONDO:0008094",
                "name": "familial multiple nevi flammei"
            },
            {
                "id": "MONDO:0008094",
                "name": "Nevus flammeus"
            },
            {
                "id": "MONDO:0008094",
                "name": "Salmon patch Nevus"
            },
            {
                "id": "MONDO:0008094",
                "name": "capillary malformations, congenital, 1, somatic, mosaic"
            },
            {
                "id": "MONDO:0008094",
                "name": "familial multiple port-wine stains"
            },
            {
                "id": "MONDO:0008094",
                "name": "port wine Nevus"
            },
            {
                "id": "MONDO:0008094",
                "name": "port wine birthmark"
            },
            {
                "id": "MONDO:0008094",
                "name": "port wine stain"
            },
            {
                "id": "MONDO:0008094",
                "name": "port wine stain of skin"
            },
            {
                "id": "MONDO:0008094",
                "name": "port wine stain of the skin"
            },
            {
                "id": "MONDO:0008094",
                "name": "port wine type hemangioma"
            },
            {
                "id": "MONDO:0008094",
                "name": "port-wine stain of skin"
            },
            {
                "id": "MONDO:0008094",
                "name": "CMC"
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            {
                "id": "MONDO:0008094",
                "name": "capillary malformations, congenital"
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            {
                "id": "MONDO:0008094",
                "name": "port-wine stain familial multiple"
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            {
                "id": "MIM:163000",
                "name": "Capillary malformations, congenital"
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        "disease_id": "DOID:0111530",
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            {
                "id": "DOID:0111530",
                "name": "JNP"
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            {
                "id": "DOID:0111530",
                "name": "Jadassohn nevus phakomatosis"
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            {
                "id": "DOID:0111530",
                "name": "SFM syndrome"
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            {
                "id": "DOID:0111530",
                "name": "Schimmelpenning Feuerstein Mims syndrome"
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            {
                "id": "DOID:0111530",
                "name": "Schimmelpenning syndrome"
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            {
                "id": "DOID:0111530",
                "name": "Solomon syndrome"
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                "id": "DOID:0111530",
                "name": "nevus sebaceus of Jadassohn"
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            {
                "id": "DOID:0111530",
                "name": "nevus sebaceus syndrome"
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            {
                "id": "DOID:0111530",
                "name": "organoid nevus phakomatosis"
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                "id": "DOID:0111530",
                "name": "organoid nevus syndrome"
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            {
                "id": "MONDO:0008097",
                "name": "linear nevus sebaceous syndrome"
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                "id": "MONDO:0008097",
                "name": "Nevus Sebaceus Syndrome"
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            {
                "id": "MONDO:0008097",
                "name": "Nevus sebaceous of Jadassohn"
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                "id": "MONDO:0008097",
                "name": "Nevus sebaceus of Jadassohn"
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                "id": "MONDO:0008097",
                "name": "Nevus sebaceus syndrome"
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                "id": "MONDO:0008097",
                "name": "Schimmelpenning syndrome"
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                "id": "MONDO:0008097",
                "name": "Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic"
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            {
                "id": "MONDO:0008097",
                "name": "Solomon syndrome"
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                "id": "MONDO:0008097",
                "name": "linear sebaceous Nevus"
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                "id": "MONDO:0008097",
                "name": "organoid Nevus"
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                "id": "MONDO:0008097",
                "name": "organoid nevus syndrome"
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                "name": "Jadassohn nevus phakomatosis"
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                "id": "MONDO:0008097",
                "name": "Schimmelpenning Feuerstein Mims syndrome"
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                "id": "MONDO:0008097",
                "name": "epidermal nevus syndrome"
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                "name": "organoid nevus phakomatosis"
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                "id": "MONDO:0008097",
                "name": "sebaceous nevus syndrome linear"
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                "id": "MIM:163200",
                "name": "Schimmelpenning-Feuerstein-Mims syndrome"
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                "id": "DOID:0111531",
                "name": "familial bilateral optic nerve hypoplasia"
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                "id": "DOID:0111531",
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                "id": "MONDO:0008136",
                "name": "Optic Nerve Hypoplasia"
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                "id": "MONDO:0008136",
                "name": "familial bilateral optic nerve hypoplasia"
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                "id": "MONDO:0008136",
                "name": "optic nerve hypoplasia, bilateral"
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                "id": "MONDO:0008136",
                "name": "optic nerve hypoplasia, familial bilateral"
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            {
                "id": "MIM:165550",
                "name": "Bilateral optic nerve hypoplasia"
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                "id": "DOID:0111532",
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                "id": "MONDO:0008150",
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                "id": "MONDO:0008150",
                "name": "Fairbank-Keats syndrome"
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                "id": "MIM:166250",
                "name": "Osteoglophonic dysplasia"
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                "name": "MCTO"
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                "id": "DOID:0111534",
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                "id": "MONDO:0008152",
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                "name": "Carnevale canun Mendoza syndrome"
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                "id": "MONDO:0008152",
                "name": "multicentric carpotarsal osteolysis syndrome"
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                "id": "MONDO:0008152",
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                "id": "MIM:166300",
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                "id": "DOID:0111536",
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                "id": "MONDO:0008157",
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                "id": "MONDO:0008592",
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                "id": "MIM:600920",
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                "id": "DOID:0112230",
                "name": "LIS5"
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            {
                "id": "DOID:0112230",
                "name": "lissencephaly 5"
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                "id": "MONDO:0014077",
                "name": "cobblestone lissencephaly without muscular or ocular involvement"
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            {
                "id": "MONDO:0014077",
                "name": "cobblestone lissencephaly without muscular or eye involvement"
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                "id": "MONDO:0014077",
                "name": "cobblestone lissencephaly without muscular or ocular involvement"
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            {
                "id": "MONDO:0014077",
                "name": "lissencephaly type 2 without muscular or eye involvement"
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                "id": "MONDO:0014077",
                "name": "lissencephaly type 2 without muscular or ocular involvement"
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            {
                "id": "MONDO:0014077",
                "name": "lissencephaly type 5"
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                "id": "MONDO:0014077",
                "name": "LIS5"
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            {
                "id": "MONDO:0014077",
                "name": "lissencephaly 5"
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                "id": "MIM:615191",
                "name": "Lissencephaly 5"
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        ],
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                "id": "DOID:0112231",
                "name": "LIS7"
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                "id": "MONDO:0014596",
                "name": "lissencephaly 7 with cerebellar hypoplasia"
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                "id": "MONDO:0014596",
                "name": "lissencephaly 7 with cerebellar hypoplasia"
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                "id": "MONDO:0014596",
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                "id": "MIM:616342",
                "name": "Lissencephaly 7, with cerebellar hypoplasia"
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                "id": "DOID:0112232",
                "name": "LIS3"
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                "id": "MONDO:0012703",
                "name": "lissencephaly due to TUBA1A mutation"
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                "id": "MONDO:0012703",
                "name": "LIS3"
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            {
                "id": "MONDO:0012703",
                "name": "lissencephaly 3"
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                "id": "MIM:611603",
                "name": "Lissencephaly 3"
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                "id": "DOID:0112233",
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                "id": "MONDO:0014992",
                "name": "lissencephaly 8"
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                "id": "MONDO:0014992",
                "name": "LIS8"
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                "id": "MONDO:0014992",
                "name": "TMTC3 lissencephaly (disease)"
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                "id": "MONDO:0014992",
                "name": "lissencephaly (disease) caused by mutation in TMTC3"
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                "id": "MONDO:0014992",
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                "id": "MONDO:0014992",
                "name": "lissencephaly 8; LIS8"
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                "id": "MONDO:0014992",
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                "id": "MIM:617255",
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                "id": "DOID:0112235",
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                "id": "MONDO:0013527",
                "name": "NDE1 lissencephaly (disease)"
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                "id": "MONDO:0013527",
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                "id": "MONDO:0013527",
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                "id": "MONDO:0013527",
                "name": "lissencephaly 4 (with microcephaly)"
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                "id": "MONDO:0013527",
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                "id": "MONDO:0013527",
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                "id": "MIM:614019",
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                "id": "MONDO:0014534",
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                "id": "MONDO:0014534",
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                "id": "MONDO:0014534",
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                "id": "MIM:616212",
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                "id": "MONDO:0011830",
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                "id": "MONDO:0010268",
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