{
    "disease_id": "DOID:0080052",
    "recommended_name": {
        "id": "DOID:0080052",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080052",
        "name": "acromesomelic dysplasia, Grebe type",
        "description": "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones."
    },
    "synonyms": [
        {
            "id": "DOID:0080052",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080052",
            "name": "grebe chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "acromesomelic dysplasia, Grebe type",
            "description": "Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal."
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "GREBE chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "achondrogenesis, Brazilian",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "hypochondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "chondrodysplasia, Grebe type",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Grebe chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "achondrogenesis type II (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "achondrogenesis, type II, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "chondrodysplasia, GREBE type",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "AMDG",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "achondrogenesis, type II",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "acromesomelic dysplasia, Grebe type",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Grebe dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "type II achondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Brazilian achondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Grebe syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008703",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008703",
            "name": "Langer-Saldino achondrogenesis",
            "description": ""
        },
        {
            "id": "MIM:200700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200700",
            "name": "Acromesomelic dysplasia 2A",
            "description": "Acromesomelic dysplasia 2A"
        }
    ]
}