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            {
                "id": "DOID:0060747",
                "name": "DR syndrome"
            },
            {
                "id": "DOID:0060747",
                "name": "Okihiro syndrome"
            },
            {
                "id": "DOID:0060747",
                "name": "acrorenocular syndrome"
            },
            {
                "id": "DOID:0060747",
                "name": "Duane anomaly with radial ray abnormalities and deafness"
            },
            {
                "id": "MONDO:0011812",
                "name": "Duane-radial ray syndrome"
            },
            {
                "id": "MONDO:0011812",
                "name": "DR syndrome"
            },
            {
                "id": "MONDO:0011812",
                "name": "DRRS"
            },
            {
                "id": "MONDO:0011812",
                "name": "Duane anomaly with radial ray abnormalities and deafness"
            },
            {
                "id": "MONDO:0011812",
                "name": "Duane-radial ray syndrome"
            },
            {
                "id": "MONDO:0011812",
                "name": "Okihiro syndrome"
            },
            {
                "id": "MONDO:0011812",
                "name": "acro-renal-ocular syndrome"
            },
            {
                "id": "MONDO:0011812",
                "name": "Duane anomaly with radial abnormalities and deafness"
            },
            {
                "id": "MIM:607323",
                "name": "Duane-radial ray syndrome"
            }
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                "id": "DOID:0060748",
                "name": "ETL1"
            },
            {
                "id": "DOID:0060748",
                "name": "partial epilepsy with auditory features"
            },
            {
                "id": "MONDO:0700090",
                "name": "epilepsy, familial temporal lobe, 1"
            },
            {
                "id": "MONDO:0700090",
                "name": "ADLTE"
            },
            {
                "id": "MONDO:0700090",
                "name": "ADPEAF"
            },
            {
                "id": "MONDO:0700090",
                "name": "ETL1"
            },
            {
                "id": "MONDO:0700090",
                "name": "epilepsy, familial temporal lobe, type 1"
            },
            {
                "id": "MONDO:0700090",
                "name": "epilepsy, lateral temporal lobe, autosomal dominant"
            },
            {
                "id": "MONDO:0700090",
                "name": "epilepsy, partial, with auditory features"
            },
            {
                "id": "MIM:600512",
                "name": "Epilepsy, familial temporal lobe, 1"
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                "id": "DOID:0060750",
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            {
                "id": "DOID:0060750",
                "name": "familial mesial temporal lobe epilepsy"
            },
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                "id": "MONDO:0012705",
                "name": "familial temporal lobe epilepsy 3"
            },
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                "id": "MONDO:0012705",
                "name": "FMTLE"
            },
            {
                "id": "MONDO:0012705",
                "name": "familial mesial temporal lobe epilepsy"
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            {
                "id": "MONDO:0012705",
                "name": "ETL3"
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            {
                "id": "MONDO:0012705",
                "name": "epilepsy, familial temporal lobe, 3"
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                "id": "MONDO:0012705",
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                "id": "MONDO:0014639",
                "name": "familial temporal lobe epilepsy 7"
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                "id": "MONDO:0014639",
                "name": "ETL7"
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                "id": "MONDO:0014639",
                "name": "epilepsy, familial temporal lobe, type 7"
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                "id": "MONDO:0014639",
                "name": "familial temporal lobe epilepsy type 7"
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                "id": "MONDO:0014639",
                "name": "epilepsy, familial temporal lobe, 7"
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                "id": "MIM:616436",
                "name": "Epilepsy, familial temporal lobe, 7"
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                "id": "MONDO:0013741",
                "name": "epilepsy, familial temporal lobe, type 5"
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                "id": "MONDO:0013741",
                "name": "familial temporal lobe epilepsy type 5"
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                "id": "MONDO:0013741",
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                "id": "MIM:614417",
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                "name": "familial temporal lobe epilepsy type 8"
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                "id": "MONDO:0014650",
                "name": "epilepsy, familial temporal lobe, 8"
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                "id": "MIM:616461",
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                "id": "MONDO:0010016",
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                "id": "MIM:269500",
                "name": "Sclerosteosis 1"
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                "id": "MIM:614305",
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                "id": "DOID:0060758",
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                "id": "MONDO:0011528",
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                "id": "MONDO:0011528",
                "name": "AICDA hyper-IgM syndrome"
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                "id": "MONDO:0011528",
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                "id": "MONDO:0011528",
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                "id": "MONDO:0011528",
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                "id": "MONDO:0011528",
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                "id": "MONDO:0011528",
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                "id": "MONDO:0011528",
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                "id": "MONDO:0011528",
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                "id": "MIM:605258",
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                "id": "MONDO:0011971",
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                "id": "MONDO:0010809",
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                "id": "DOID:0060762",
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                "id": "DOID:0060762",
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                "id": "DOID:0060762",
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                "id": "MIM:312700",
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                "id": "MIM:268310",
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                "id": "MIM:616331",
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                "id": "MIM:612233",
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                "id": "MIM:260600",
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                "id": "MONDO:0010665",
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                "id": "DOID:0060815",
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            {
                "id": "DOID:0060815",
                "name": "X-linked intellectual disability, Miles-Carpenter type"
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            {
                "id": "DOID:0060815",
                "name": "mental retardation, X-linked, with congenital contractures and low fingertip arches"
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            {
                "id": "DOID:0060815",
                "name": "Miles-Carpenter syndrome"
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            {
                "id": "DOID:0060815",
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            {
                "id": "MONDO:0010758",
                "name": "Wieacker-Wolff syndrome"
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            {
                "id": "MONDO:0010758",
                "name": "MCS"
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            {
                "id": "MONDO:0010758",
                "name": "MRXS4"
            },
            {
                "id": "MONDO:0010758",
                "name": "Miles-CARPENTER X-linked mental retardation syndrome"
            },
            {
                "id": "MONDO:0010758",
                "name": "Miles-Carpenter syndrome"
            },
            {
                "id": "MONDO:0010758",
                "name": "WRWF"
            },
            {
                "id": "MONDO:0010758",
                "name": "WRWFXLR"
            },
            {
                "id": "MONDO:0010758",
                "name": "Wieacker Wolff syndrome"
            },
            {
                "id": "MONDO:0010758",
                "name": "Wieacker syndrome"
            },
            {
                "id": "MONDO:0010758",
                "name": "Wieacker-Wolff syndrome"
            },
            {
                "id": "MONDO:0010758",
                "name": "Wieacker-Wolff syndrome, X-linked"
            },
            {
                "id": "MONDO:0010758",
                "name": "Wieacker-Wolff syndrome, X-linked recessive"
            },
            {
                "id": "MONDO:0010758",
                "name": "X-linked intellectual disability, Miles-Carpenter type"
            },
            {
                "id": "MONDO:0010758",
                "name": "ZC4H2-Associated Rare Disorders (ZARD)"
            },
            {
                "id": "MONDO:0010758",
                "name": "apraxia, oculomotor, with congenital contractures and muscle atrophy"
            },
            {
                "id": "MONDO:0010758",
                "name": "contractures of feet, muscle atrophy, and oculomotor apraxia"
            },
            {
                "id": "MONDO:0010758",
                "name": "foot contractures-muscle atrophy-oculomotor apraxia syndrome"
            },
            {
                "id": "MONDO:0010758",
                "name": "intellectual disability-developmental delay-contractures syndrome"
            },
            {
                "id": "MONDO:0010758",
                "name": "mental retardation, X-linked, syndromic 4"
            },
            {
                "id": "MONDO:0010758",
                "name": "mental retardation, X-linked, with congenital contractures and Low fingertip arches"
            },
            {
                "id": "MONDO:0010758",
                "name": "mental retardation, X-linked, with congenital contractures and low fingertip arches"
            },
            {
                "id": "MIM:314580",
                "name": "Wieacker-Wolf syndrome"
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    {
        "record_id": "doid.0060816",
        "disease_id": "DOID:0060816",
        "recommended_name": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",
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            {
                "id": "DOID:0060816",
                "name": "Graham-Cox syndrome"
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            {
                "id": "DOID:0060816",
                "name": "MRXS28"
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            {
                "id": "DOID:0060816",
                "name": "mental retardation, X-linked, syndromic 28"
            },
            {
                "id": "DOID:0060816",
                "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia"
            },
            {
                "id": "MONDO:0010333",
                "name": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"
            },
            {
                "id": "MONDO:0010333",
                "name": "Graham-Cox syndrome"
            },
            {
                "id": "MONDO:0010333",
                "name": "MRXS28"
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            {
                "id": "MONDO:0010333",
                "name": "corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive"
            },
            {
                "id": "MONDO:0010333",
                "name": "corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia"
            },
            {
                "id": "MONDO:0010333",
                "name": "intellectual disability, X-linked, syndromic 28"
            },
            {
                "id": "MONDO:0010333",
                "name": "mental retardation, X-linked, syndromic 28"
            },
            {
                "id": "MONDO:0010333",
                "name": "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome"
            },
            {
                "id": "MONDO:0010333",
                "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia"
            },
            {
                "id": "MIM:300472",
                "name": "Intellectual developmental disorder, X-linked, syndromic 28"
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            {
                "id": "DOID:0060817",
                "name": "macrocephaly-intellectual disability-left ventricular non compaction syndrome"
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            {
                "id": "DOID:0060817",
                "name": "MRXS34"
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            {
                "id": "DOID:0060817",
                "name": "MRXSML"
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            {
                "id": "DOID:0060817",
                "name": "syndromic X-linked mental retardation Mircsof-Langouet type"
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            {
                "id": "DOID:0060817",
                "name": "mental retardation, X-linked, syndromic 34"
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            {
                "id": "MONDO:0010501",
                "name": "syndromic X-linked intellectual disability 34"
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                "id": "MONDO:0010501",
                "name": "MRXS34"
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            {
                "id": "MONDO:0010501",
                "name": "MRXSML"
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            {
                "id": "MONDO:0010501",
                "name": "NONO X-linked syndromic intellectual disability"
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            {
                "id": "MONDO:0010501",
                "name": "X-linked syndromic intellectual disability caused by mutation in NONO"
            },
            {
                "id": "MONDO:0010501",
                "name": "intellectual developmental disorder, X-linked syndromic 34"
            },
            {
                "id": "MONDO:0010501",
                "name": "intellectual disability, X-linked, syndromic 34"
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                "id": "MONDO:0010501",
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            {
                "id": "MONDO:0010501",
                "name": "macrocephaly-intellectual disability-left ventricular non compaction syndrome"
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            {
                "id": "MONDO:0010501",
                "name": "mental retardation, X-linked, syndromic 34"
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            {
                "id": "MONDO:0010501",
                "name": "mental retardation, X-linked, syndromic type 34"
            },
            {
                "id": "MONDO:0010501",
                "name": "syndromic X-linked intellectual disability Mircsof-Langouet type"
            },
            {
                "id": "MONDO:0010501",
                "name": "syndromic X-linked intellectual disability type 34"
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            {
                "id": "MONDO:0010501",
                "name": "mental retardation, X-linked, syndromic, Mircsof-Langouet type"
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            {
                "id": "MIM:300967",
                "name": "Intellectual developmental disorder, X-linked, syndromic 34"
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                "id": "DOID:0060820",
                "name": "mental retardation, X-linked syndromic, Nascimento-type"
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            {
                "id": "DOID:0060820",
                "name": "X-linked intellectual disability-nail dystrophy-seizures syndrome"
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                "id": "MONDO:0010461",
                "name": "syndromic X-linked intellectual disability Nascimento type"
            },
            {
                "id": "MONDO:0010461",
                "name": "X-linked intellectual disability-nail dystrophy-seizures syndrome"
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            {
                "id": "MONDO:0010461",
                "name": "intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive"
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                "id": "MONDO:0010461",
                "name": "intellectual disability, X-linked syndromic, Nascimento-type"
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                "id": "MONDO:0010461",
                "name": "syndromic X-linked intellectual disability Nascimento type"
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            {
                "id": "MONDO:0010461",
                "name": "MRXSN"
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            {
                "id": "MONDO:0010461",
                "name": "intellectual disability, X-linked, syndromic, Nascimento type"
            },
            {
                "id": "MONDO:0010461",
                "name": "mental retardation, X-linked, syndromic 30"
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            {
                "id": "MONDO:0010461",
                "name": "mental retardation, X-linked, syndromic, Nascimento type"
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            {
                "id": "MIM:300860",
                "name": "Intellectual developmental disorder, X-linked, syndromic, Nascimento-type"
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                "id": "MONDO:0010398",
                "name": "syndromic X-linked intellectual disability 14"
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            {
                "id": "MONDO:0010398",
                "name": "UPF3B X-linked syndromic intellectual disability"
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            {
                "id": "MONDO:0010398",
                "name": "X-linked syndromic intellectual disability caused by mutation in UPF3B"
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            {
                "id": "MONDO:0010398",
                "name": "intellectual developmental disorder, X-linked syndromic 14, X-linked recessive"
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                "id": "MONDO:0010398",
                "name": "intellectual disability, X-linked, syndromic 14"
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                "id": "MONDO:0010398",
                "name": "intellectual disability, X-linked, syndromic type 14"
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            {
                "id": "MONDO:0010398",
                "name": "mental retardation, X-linked, syndromic 14"
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            {
                "id": "MONDO:0010398",
                "name": "mental retardation, X-linked, syndromic type 14"
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            {
                "id": "MONDO:0010398",
                "name": "syndromic X-linked intellectual disability 14"
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            {
                "id": "MONDO:0010398",
                "name": "syndromic X-linked intellectual disability type 14"
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                "id": "MONDO:0010398",
                "name": "MRXS14"
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                "id": "MIM:300676",
                "name": "Intellectual developmental disorder, X-linked, syndromic 14"
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                "id": "DOID:0060822",
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                "id": "DOID:0060822",
                "name": "MRXS15"
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                "id": "DOID:0060822",
                "name": "MRXSC"
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            {
                "id": "DOID:0060822",
                "name": "X-linked mental retardation with short stature"
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            {
                "id": "DOID:0060822",
                "name": "X-linked mental retardation with short stature, hypogonadism, and abnormal gait"
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            {
                "id": "DOID:0060822",
                "name": "mental retardation, X-linked, syndromic 15"
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            {
                "id": "DOID:0060822",
                "name": "Cabezas syndrome; syndromic X-linked mental retardation 15"
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            {
                "id": "DOID:0060822",
                "name": "mental retardation, X-linked, syndromic 15 (Cabezas type)"
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            {
                "id": "MONDO:0010306",
                "name": "X-linked intellectual disability, Cabezas type"
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            {
                "id": "MONDO:0010306",
                "name": "Cabezas syndrome"
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            {
                "id": "MONDO:0010306",
                "name": "Cabezas syndrome; syndromic X-linked intellectual disability 15"
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            {
                "id": "MONDO:0010306",
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                "id": "MONDO:0010306",
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                "id": "MONDO:0010306",
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            {
                "id": "MONDO:0010306",
                "name": "X-linked intellectual disability with short stature"
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                "id": "MONDO:0010306",
                "name": "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait"
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            {
                "id": "MONDO:0010306",
                "name": "X-linked intellectual disability, Cabezas type"
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            {
                "id": "MONDO:0010306",
                "name": "intellectual disability, X-linked, syndromic 15 (Cabezas type)"
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            {
                "id": "MONDO:0010306",
                "name": "intellectual disability, X-linked, with short stature"
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            {
                "id": "MONDO:0010306",
                "name": "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive"
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                "id": "MONDO:0010306",
                "name": "mental retardation, X-linked, with short stature"
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                "id": "MONDO:0010306",
                "name": "syndromic X-linked intellectual disability Cabezas type"
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            {
                "id": "MONDO:0010306",
                "name": "Cabezas type of X-linked syndromic intellectual disability"
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            {
                "id": "MONDO:0010306",
                "name": "Cul4B-related X-linked intellectual disability"
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                "id": "MONDO:0010306",
                "name": "intellectual disability, X-linked, syndromic 15"
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            {
                "id": "MONDO:0010306",
                "name": "intellectual disability, X-linked, syndromic, Cabezas type"
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                "id": "MONDO:0010306",
                "name": "mental retardation, X-linked, syndromic 15"
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                "id": "MONDO:0010306",
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            {
                "id": "MONDO:0010306",
                "name": "mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait"
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            {
                "id": "MIM:300354",
                "name": "Intellectual developmental disorder, X-linked, syndromic, Cabezas type"
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                "id": "DOID:0060823",
                "name": "syndromic X-linked intellectual disability due to GRIA3 anomalies"
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                "id": "DOID:0060823",
                "name": "MRX94"
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                "id": "DOID:0060823",
                "name": "MRXS29"
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                "id": "DOID:0060823",
                "name": "mental retardation, X-linked 94"
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                "id": "DOID:0060823",
                "name": "syndromic X-linked mental retardation 29"
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                "id": "DOID:0060823",
                "name": "syndromic X-linked mental retardation Wu type"
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                "id": "MONDO:0010402",
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                "id": "MONDO:0010402",
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                "id": "MONDO:0010402",
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                "id": "MONDO:0010402",
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                "id": "MONDO:0010402",
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                "id": "MONDO:0010402",
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                "id": "MONDO:0010402",
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                "id": "MONDO:0010402",
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            {
                "id": "MONDO:0010402",
                "name": "intellectual disability, X-linked, syndromic, Wu type"
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            {
                "id": "MONDO:0010402",
                "name": "mental retardation, X-linked, syndromic 29"
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            {
                "id": "MONDO:0010402",
                "name": "mental retardation, X-linked, syndromic, Wu type"
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            {
                "id": "MIM:300699",
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                "id": "DOID:0060824",
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                "id": "DOID:0060824",
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                "id": "MONDO:0010427",
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                "id": "MONDO:0010427",
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                "name": "syndromic X-linked intellectual disability Raymond type"
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                "id": "MONDO:0010427",
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                "id": "MIM:300799",
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    {
        "record_id": "doid.0060825",
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                "id": "DOID:0060825",
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                "id": "DOID:0060825",
                "name": "X-linked Angelman-like syndrome"
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            {
                "id": "DOID:0060825",
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            {
                "id": "DOID:0060825",
                "name": "mental retardation, X-linked syndromic, Christianson type"
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            {
                "id": "DOID:0060825",
                "name": "X-linked intellectual disability, South African type"
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            {
                "id": "DOID:0060825",
                "name": "mental retardation, microcephaly, epilepsy, and ataxia syndrome"
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            {
                "id": "DOID:0060825",
                "name": "Christianson type of X-linked syndromic intellectual developmental disorder"
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            {
                "id": "MONDO:0010278",
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                "id": "MONDO:0010278",
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            {
                "id": "MONDO:0010278",
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            {
                "id": "MONDO:0010278",
                "name": "X-linked Angelman-like syndrome"
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                "id": "MONDO:0010278",
                "name": "intellectual developmental disorder, X-linked syndromic, Christianson type"
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            {
                "id": "MONDO:0010278",
                "name": "intellectual disability, X-linked syndromic, Christianson type"
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            {
                "id": "MONDO:0010278",
                "name": "intellectual disability, microcephaly, epilepsy, and ataxia syndrome"
            },
            {
                "id": "MONDO:0010278",
                "name": "mental retardation, microcephaly, epilepsy, and ataxia syndrome"
            },
            {
                "id": "MONDO:0010278",
                "name": "Angelman-like syndrome X-linked"
            },
            {
                "id": "MONDO:0010278",
                "name": "MRXS Christianson"
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            {
                "id": "MONDO:0010278",
                "name": "X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy"
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                "id": "MONDO:0009917",
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                "id": "MONDO:0009917",
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                "id": "MONDO:0009917",
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                "id": "MONDO:0009917",
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                "id": "MONDO:0009917",
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                "id": "MONDO:0009917",
                "name": "pseudohypoaldosteronism type 1, recessive"
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                "id": "MONDO:0009917",
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                "id": "MIM:264350",
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                "id": "MONDO:0008329",
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            {
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            {
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            {
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            {
                "id": "MONDO:0008199",
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                "id": "DOID:0070203",
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                "id": "MONDO:0014098",
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            {
                "id": "MONDO:0014098",
                "name": "lipodystrophy, familial partial, type 5"
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                "id": "MIM:615238",
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                "id": "DOID:0070204",
                "name": "familial partial lipodystrophy associated with PPARG mutations"
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                "id": "DOID:0070204",
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                "id": "DOID:0070204",
                "name": "PPARG-related familial partial lipodystrophy"
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                "id": "MONDO:0011448",
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                "id": "MONDO:0011448",
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                "id": "MONDO:0011448",
                "name": "PPARG-related FPLD"
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                "id": "MONDO:0011448",
                "name": "familial partial lipodystrophy type 3"
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            {
                "id": "MONDO:0011448",
                "name": "familial partial lipodystrophy associated with PPARG mutations"
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            {
                "id": "MONDO:0011448",
                "name": "lipodystrophy, familial partial, type 3"
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            {
                "id": "MIM:604367",
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                "id": "DOID:0070205",
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                "name": "PLIN1-related familial partial lipodystrophy"
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                "id": "DOID:0070205",
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                "id": "MONDO:0013478",
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                "id": "MONDO:0013478",
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                "id": "MONDO:0013478",
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                "id": "MONDO:0013478",
                "name": "familial partial lipodystrophy associated with PLIN1 mutations"
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                "id": "MONDO:0013478",
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            {
                "id": "MONDO:0013478",
                "name": "lipodystrophy, familial partial, type 4"
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                "id": "MIM:613877",
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                "id": "DOID:0070206",
                "name": "familial partial lipodystrophy associated with LIPE mutations"
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                "id": "DOID:0070206",
                "name": "LIPE-related FPLD"
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                "id": "DOID:0070206",
                "name": "LIPE-related familial partial lipodystrophy"
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            {
                "id": "MONDO:0014431",
                "name": "LIPE-related familial partial lipodystrophy"
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                "id": "MONDO:0014431",
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                "id": "MONDO:0014431",
                "name": "LIPE-related FPLD"
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            {
                "id": "MONDO:0014431",
                "name": "lipodystrophy, familial partial, type 6"
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            {
                "id": "MIM:615980",
                "name": "Lipodystrophy, familial partial, 6"
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                "id": "DOID:0070207",
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                "id": "MONDO:0012072",
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                "id": "DOID:0070243",
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                "id": "DOID:0070243",
                "name": "coenzyme Q10 deficiency, primary, 6"
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                "id": "DOID:0070243",
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                "id": "MONDO:0013836",
                "name": "familial steroid-resistant nephrotic syndrome with sensorineural deafness"
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                "id": "MONDO:0013836",
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                "id": "MONDO:0013836",
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                "id": "MIM:614650",
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                "id": "DOID:0070244",
                "name": "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"
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                "id": "DOID:0070244",
                "name": "COQ10D7"
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                "id": "DOID:0070244",
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                "id": "DOID:0070244",
                "name": "coenzyme Q10 deficiency, primary, 7"
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                "id": "MONDO:0014562",
                "name": "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"
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                "id": "MONDO:0014562",
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            {
                "id": "MIM:616276",
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                "id": "MONDO:0014754",
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                "id": "MIM:616733",
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                "id": "DOID:0070246",
                "name": "Emery-Dreifuss muscular dystrophy 1, X-linked"
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                "id": "DOID:0070246",
                "name": "humeroperoneal neuromuscular disease"
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                "id": "DOID:0070246",
                "name": "scapuloperoneal syndrome, X-linked"
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                "id": "DOID:0070246",
                "name": "muscular dystrophy, tardive, Dreifuss-Emery type, with contractures"
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                "id": "MONDO:0100531",
                "name": "Emery-Dreifuss muscular dystrophy 1, X-linked"
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                "id": "MONDO:0100531",
                "name": "EMD1"
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                "id": "MONDO:0100531",
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                "id": "MIM:310300",
                "name": "Emery-Dreifuss muscular dystrophy 1, X-linked"
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                "name": "scapuloilioperoneal atrophy with cardiopathy"
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                "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant"
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                "name": "Emery-Dreifuss muscular dystrophy, autosomal dominant"
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                "name": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant"
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                "id": "MONDO:0021569",
                "name": "LMNA autosomal dominant limb-girdle muscular dystrophy"
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                "name": "limb-girdle muscular dystrophy due to lamin A/C deficiency"
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                "id": "DOID:0070249",
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                "id": "MIM:612998",
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                "name": "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy"
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            {
                "id": "MONDO:0013072",
                "name": "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2"
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                "name": "EDMD5"
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                "id": "MIM:612999",
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                "name": "Emery-Dreifuss muscular dystrophy 6, X-linked"
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                "id": "DOID:0070251",
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                "id": "MIM:300696",
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                "id": "MONDO:0013677",
                "name": "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy"
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            {
                "id": "MONDO:0013677",
                "name": "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43"
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                "id": "MONDO:0013677",
                "name": "EDMD7"
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            {
                "id": "MIM:614302",
                "name": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant"
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                "id": "DOID:0070253",
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                "name": "CDGS2"
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                "id": "DOID:0070253",
                "name": "congenital disorder of glycosylation, type IIa"
            },
            {
                "id": "DOID:0070253",
                "name": "carbohydrate-deficient glycoprotein syndrome, type II"
            },
            {
                "id": "DOID:0070253",
                "name": "mental retardation, growth retardation, prominent columella, and open mouth"
            },
            {
                "id": "MONDO:0008908",
                "name": "MGAT2-congenital disorder of glycosylation"
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            {
                "id": "MONDO:0008908",
                "name": "CDG syndrome type IIa"
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            {
                "id": "MONDO:0008908",
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            {
                "id": "MONDO:0008908",
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            {
                "id": "MONDO:0008908",
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            {
                "id": "MONDO:0008908",
                "name": "N-acetylglucosaminyltransferase 2 deficiency"
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            {
                "id": "MONDO:0008908",
                "name": "carbohydrate deficient glycoprotein syndrome type IIa"
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            {
                "id": "MONDO:0008908",
                "name": "congenital disorder of glycosylation type 2a"
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            {
                "id": "MONDO:0008908",
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                "id": "MONDO:0008908",
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            {
                "id": "MONDO:0008908",
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            {
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            },
            {
                "id": "MONDO:0008908",
                "name": "congenital disorder of glycosylation, type IIa"
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                "id": "MONDO:0008908",
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            {
                "id": "MIM:212066",
                "name": "Congenital disorder of glycosylation 2A"
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                "id": "MONDO:0011629",
                "name": "congenital disorder of glycosylation, type IIb"
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                "id": "MIM:606056",
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                "id": "MONDO:0009953",
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                "id": "MONDO:0009953",
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