{
    "disease_id": "DOID:0060713", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "ichthyosis, congenital, autosomal recessive 4B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "ichthyosis, congenital, autosomal recessive 4B; ARCI4B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "Harlequin fetus"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "harlequin type ichthyosis fetalis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "ARCI4B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "harlequin type ichthyosis congenita"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "ichthyosis fetalis, Harlequin type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "harlequin ichthyosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "hi"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "'Harlequin fetus'"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "ichthyosis congenita, Harlequin type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "autosomal recessive congenital ichthyosis type 4B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "ichthyosis, congenital, autosomal recessive type 4B"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009443", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009443", 
            "name": "ichthyosis congenita, Harlequin fetus type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060713", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060713", 
            "name": "ARCI4B"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060713", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060713", 
            "name": "harlequin ichthyosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060713", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060713", 
            "name": "harlequin type ichthyosis congenita"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060713", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060713", 
            "name": "harlequin type ichthyosis fetalis"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060713", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060713", 
        "name": "autosomal recessive congenital ichthyosis 4B"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060713#disease-associations", 
            "id": "0060713", 
            "database": "Alliance of Genome Resources"
        }
    ]
}