{
    "disease_id": "DOID:0110945", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "OPTB6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "autosomal recessive intermediate osteopetrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "osteopetrosis, autosomal recessive 6; OPTB6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "osteopetrosis autosomal recessive intermediate form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "osteopetrosis (disease) caused by mutation in PLEKHM1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "autosomal recessive osteopetrosis intermediate form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "osteopetrosis, autosomal recessive type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "osteopetrosis, autosomal recessive, Intermediate form"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "intermediate osteopetrosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "osteopetrosis autosomal recessive 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "autosomal recessive osteopetrosis type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "PLEKHM1 osteopetrosis (disease)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012679", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012679", 
            "name": "osteopetrosis, autosomal recessive 6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110945", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110945", 
            "name": "autosomal recessive osteopetrosis intermediate form"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110945", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110945", 
            "name": "OPTB6"
        }, 
        {
            "url": "https://www.omim.org/entry/611497", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:611497", 
            "name": "Osteopetrosis, autosomal recessive 6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110945", 
        "description": "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110945", 
        "name": "autosomal recessive osteopetrosis 6"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/611497", 
            "id": "611497", 
            "database": "MIM"
        }
    ]
}