{
    "disease_id": "DOID:0060483",
    "recommended_name": {
        "id": "DOID:0060483",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060483",
        "name": "MEDNIK syndrome",
        "description": "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060483",
            "name": "erythrokeratodermia variabilis 3",
            "description": ""
        },
        {
            "id": "DOID:0060483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060483",
            "name": "erythrokeratodermia variabilis, Kamouraska type",
            "description": ""
        },
        {
            "id": "DOID:0060483",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060483",
            "name": "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "MEDNIK syndrome",
            "description": "MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia)."
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "erythrokeratodermia variabilis 3",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "erythrokeratodermia variabilis, Kamouraska type",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "MEDNIK",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma",
            "description": ""
        },
        {
            "id": "MONDO:0012251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "name": "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma",
            "description": ""
        },
        {
            "id": "MIM:609313",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609313",
            "name": "MEDNIK syndrome",
            "description": "MEDNIK syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060483"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060483",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060483",
            "categories": []
        },
        {
            "id": "MONDO:0012251",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012251",
            "categories": []
        },
        {
            "id": "MIM:609313",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609313",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P61967-1",
            "uniprot_ac": "P61967",
            "uniprot_id": "AP1S1_MOUSE",
            "refseq_ac": "NP_031483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-1 complex subunit sigma-1A",
                    "type": "recommended"
                },
                {
                    "name": "AP-1 complex subunit sigma-1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-1 complex subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1A small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor HA1/AP1 adaptin sigma-1A subunit",
                    "type": "synonym"
                },
                {
                    "name": "HA1 19 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma 1a subunit of AP-1 clathrin",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-adaptin 1A",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1A-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 1 sigma-1A subunit",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-1 sigma-1A subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-1, sigma 1",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 1 sigma-1A small chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "golgi adaptor HA1/AP1 adaptin sigma-1A subunit",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1a subunit of AP-1 clathrin",
                    "type": "synonym"
                },
                {
                    "name": "sigma-adaptin 1A",
                    "type": "synonym"
                },
                {
                    "name": "sigma1A-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap1s1",
                    "type": "recommended"
                },
                {
                    "name": "AP19",
                    "type": "synonym"
                },
                {
                    "name": "Ap19",
                    "type": "synonym"
                },
                {
                    "name": "Ap1s1",
                    "type": "synonym"
                }
            ],
            "record_id": "P61967-1",
            "evidence": [
                {
                    "id": "0060483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61966-1",
            "uniprot_ac": "P61966",
            "uniprot_id": "AP1S1_HUMAN",
            "refseq_ac": "NP_001274",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-1 complex subunit sigma-1A",
                    "type": "recommended"
                },
                {
                    "name": "AP-1 complex subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1A small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor HA1/AP1 adaptin sigma-1A subunit",
                    "type": "synonym"
                },
                {
                    "name": "HA1 19 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma 1a subunit of AP-1 clathrin",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-adaptin 1A",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1A-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 1 sigma-1A subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 1 sigma 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 1 subunit sigma-1A",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 1 sigma-1A small chain",
                    "type": "synonym"
                },
                {
                    "name": "clathrin coat assembly protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "clathrin-associated/assembly/adaptor protein, small 1 (19kD)",
                    "type": "synonym"
                },
                {
                    "name": "golgi adaptor HA1/AP1 adaptin sigma-1A subunit",
                    "type": "synonym"
                },
                {
                    "name": "sigma1A subunit of AP-1 clathrin adaptor complex",
                    "type": "synonym"
                },
                {
                    "name": "sigma1A-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP1S1",
                    "type": "recommended"
                },
                {
                    "name": "AP19",
                    "type": "synonym"
                },
                {
                    "name": "AP1S1",
                    "type": "synonym"
                },
                {
                    "name": "CLAPS1",
                    "type": "synonym"
                },
                {
                    "name": "EKV3",
                    "type": "synonym"
                },
                {
                    "name": "MEDNIK",
                    "type": "synonym"
                },
                {
                    "name": "SIGMA1A",
                    "type": "synonym"
                }
            ],
            "record_id": "P61966-1",
            "evidence": [
                {
                    "id": "609313",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609313"
                },
                {
                    "id": "0060483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35181-1",
            "uniprot_ac": "P35181",
            "uniprot_id": "AP1S1_YEAST",
            "refseq_ac": "NP_013271",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-1 complex subunit sigma-1",
                    "type": "recommended"
                },
                {
                    "name": "Aps1p",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1 small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor AP-1 19 kDa adaptin",
                    "type": "synonym"
                },
                {
                    "name": "HA1 19 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APS1",
                    "type": "recommended"
                },
                {
                    "name": "APS1",
                    "type": "synonym"
                },
                {
                    "name": "L9470.16",
                    "type": "synonym"
                },
                {
                    "name": "YAP19",
                    "type": "synonym"
                }
            ],
            "record_id": "P35181-1",
            "evidence": [
                {
                    "id": "0060483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060483"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LEE5-1",
            "uniprot_ac": "A0ABK0LEE5",
            "uniprot_id": "A0ABK0LEE5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adaptor related protein complex 1 subunit sigma 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap1s1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LEE5-1",
            "evidence": [
                {
                    "id": "0060483",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060483"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060483"
}