{
    "disease_id": "DOID:0060713",
    "recommended_name": {
        "id": "DOID:0060713",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060713",
        "name": "autosomal recessive congenital ichthyosis 4B",
        "description": "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "DOID:0060713",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060713",
            "name": "ARCI4B",
            "description": ""
        },
        {
            "id": "DOID:0060713",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060713",
            "name": "harlequin ichthyosis",
            "description": ""
        },
        {
            "id": "DOID:0060713",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060713",
            "name": "harlequin type ichthyosis congenita",
            "description": ""
        },
        {
            "id": "DOID:0060713",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060713",
            "name": "harlequin type ichthyosis fetalis",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "autosomal recessive congenital ichthyosis 4B",
            "description": "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma."
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "ARCI4B",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "HI",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "Harlequin Ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "autosomal recessive congenital ichthyosis type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "harlequin ichthyosis",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "harlequin type ichthyosis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "harlequin type ichthyosis fetalis",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "hi",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "ichthyosis , congenital, autosomal recessive 4b (harlequin)",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "ichthyosis congenita, Harlequin type",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "ichthyosis fetalis, Harlequin type",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "ichthyosis, congenital, autosomal recessive type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "'Harlequin fetus'",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "Harlequin fetus",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "Harlequin foetus",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "ichthyosis congenita, Harlequin fetus type",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "ichthyosis congenita, Harlequin foetus type",
            "description": ""
        },
        {
            "id": "MONDO:0009443",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009443",
            "name": "ichthyosis, congenital, autosomal recessive 4B",
            "description": ""
        },
        {
            "id": "MIM:242500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/242500",
            "name": "Ichthyosis, congenital, autosomal recessive 4B",
            "description": "Ichthyosis, congenital, autosomal recessive 4B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060713"
    ],
    "unlinked_id_list": []
}