{
    "disease_id": "DOID:0070678",
    "recommended_name": {
        "id": "DOID:0070678",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070678",
        "name": "congenital hypomyelinating neuropathy",
        "description": "A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination."
    },
    "synonyms": [
        {
            "id": "DOID:0070678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070678",
            "name": "CHN",
            "description": ""
        },
        {
            "id": "DOID:0070678",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070678",
            "name": "congenital hypomyelination neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot-Marie-Tooth disease type 4E",
            "description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity."
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CMT4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot-Marie-Tooth disease type 4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Neuropathy, Congenital Hypomyelination",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "autosomal recessive congenital hypomyelinating neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "hypomyelinating neuropathy, congenital, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CHN",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CHN1",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "CMT 4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "Charcot Marie Tooth disease type 4E",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "congenital hypomyelinating neuropathy (CHN)",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "congenital hypomyelination neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "neuropathy, congenital hypomyelinating",
            "description": ""
        },
        {
            "id": "MONDO:0011527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:605253",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605253",
            "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive",
            "description": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive"
        }
    ],
    "children": [
        {
            "id": "DOID:0070679",
            "label": "congenital hypomyelinating neuropathy 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070680",
            "label": "congenital hypomyelinating neuropathy 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110195",
            "label": "congenital hypomyelinating neuropathy 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070678",
        "DOID:0070679",
        "DOID:0110195",
        "DOID:0070680"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070678",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070678",
            "categories": []
        },
        {
            "id": "MONDO:0011527",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011527",
            "categories": []
        },
        {
            "id": "MIM:605253",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605253",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P11161-1",
            "uniprot_ac": "P11161",
            "uniprot_id": "EGR2_HUMAN",
            "refseq_ac": "NP_000390",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 SUMO-protein ligase EGR2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.-",
                    "type": "synonym"
                },
                {
                    "name": "AT591",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase EGR2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein ligase EGR2",
                    "type": "synonym"
                },
                {
                    "name": "E3 SUMO-protein transferase ERG2",
                    "type": "synonym"
                },
                {
                    "name": "EGR-2",
                    "type": "synonym"
                },
                {
                    "name": "Early growth response protein 2",
                    "type": "synonym"
                },
                {
                    "name": "KROX-20, Drosophila, homolog (early growth response-2)",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein Krox-20",
                    "type": "synonym"
                },
                {
                    "name": "early growth response protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein Krox-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EGR2",
                    "type": "recommended"
                },
                {
                    "name": "AT591",
                    "type": "synonym"
                },
                {
                    "name": "CMT1D",
                    "type": "synonym"
                },
                {
                    "name": "CMT4E",
                    "type": "synonym"
                },
                {
                    "name": "EGR2",
                    "type": "synonym"
                },
                {
                    "name": "KROX20",
                    "type": "synonym"
                }
            ],
            "record_id": "P11161-1",
            "evidence": [
                {
                    "id": "605253",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605253"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070678"
}