{
    "disease_id": "DOID:0060472",
    "recommended_name": {
        "id": "DOID:0060472",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060472",
        "name": "Kindler syndrome",
        "description": "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling."
    },
    "synonyms": [
        {
            "id": "DOID:0060472",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060472",
            "name": "poikiloderma of Kindler",
            "description": ""
        },
        {
            "id": "DOID:0060472",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060472",
            "name": "hereditary acrokeratotic poikiloderma of Kindler-Weary",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008260",
            "name": "Kindler syndrome",
            "description": "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes."
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008260",
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            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008260",
            "name": "Kindler syndrome",
            "description": ""
        },
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            "resource": "MONDO",
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            "name": "poikiloderma of Kindler",
            "description": ""
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008260",
            "name": "KNDLRS",
            "description": ""
        },
        {
            "id": "MONDO:0008260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008260",
            "name": "congenital bullous poikiloderma",
            "description": ""
        },
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/173650",
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        }
    ],
    "children": [],
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    ],
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        },
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        },
        {
            "uniprot_canonical_ac": "Q96AC1-1",
            "uniprot_ac": "Q96AC1",
            "uniprot_id": "FERM2_HUMAN",
            "refseq_ac": "NP_001128471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fermitin family homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Kindlin-2",
                    "type": "synonym"
                },
                {
                    "name": "MIG-2",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-inducible gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "PH domain-containing family C member 1",
                    "type": "synonym"
                },
                {
                    "name": "Pleckstrin homology domain-containing family C member 1",
                    "type": "synonym"
                },
                {
                    "name": "fermitin family homolog 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "fermitin family homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "fermitin family member 2",
                    "type": "synonym"
                },
                {
                    "name": "kindlin 2",
                    "type": "synonym"
                },
                {
                    "name": "mitogen inducible gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "mitogen inducible gene-2",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain containing, family C (with FERM domain) member 1",
                    "type": "synonym"
                },
                {
                    "name": "pleckstrin homology domain containing, family C member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FERMT2",
                    "type": "recommended"
                },
                {
                    "name": "FERMT2",
                    "type": "synonym"
                },
                {
                    "name": "KIND2",
                    "type": "synonym"
                },
                {
                    "name": "MIG2",
                    "type": "synonym"
                },
                {
                    "name": "PLEKHC1",
                    "type": "synonym"
                },
                {
                    "name": "UNC112B",
                    "type": "synonym"
                },
                {
                    "name": "UNC112",
                    "type": "synonym"
                },
                {
                    "name": "mig-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96AC1-1",
            "evidence": [
                {
                    "id": "0060472",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060472"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060472"
}