{
    "disease_id": "DOID:0050605",
    "recommended_name": {
        "id": "DOID:0050605",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050605",
        "name": "acrodermatitis enteropathica",
        "description": "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency."
    },
    "synonyms": [
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "acrodermatitis enteropathica",
            "description": "Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure."
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "AEZ",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "acrodermatitis enteropathica",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "acrodermatitis enteropathica, zinc deficiency type",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "inherited zinc deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "Brandt syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "Danbolt-Cross syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "acrodermatitis enteropathica zinc deficiency type",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "acrodermatitis enteropathica, zinc-deficiency type",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "ae",
            "description": ""
        },
        {
            "id": "MONDO:0008713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "name": "enteropathica",
            "description": ""
        },
        {
            "id": "MIM:201100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/201100",
            "name": "Acrodermatitis enteropathica, zinc-deficiency type",
            "description": "Acrodermatitis enteropathica, zinc-deficiency type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050605"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050605",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050605",
            "categories": []
        },
        {
            "id": "MONDO:0008713",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008713",
            "categories": []
        },
        {
            "id": "MIM:201100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/201100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q78IQ7-1",
            "uniprot_ac": "Q78IQ7",
            "uniprot_id": "S39A4_MOUSE",
            "refseq_ac": "NP_082340",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter ZIP4",
                    "type": "recommended"
                },
                {
                    "name": "Activated in W/Wv mouse stomach 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 39 member 4",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-4",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "activated in W/Wv mouse stomach 2",
                    "type": "synonym"
                },
                {
                    "name": "mAWMS2",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP4",
                    "type": "synonym"
                },
                {
                    "name": "zrt- and Irt-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a4",
                    "type": "recommended"
                },
                {
                    "name": "1600025H15Rik",
                    "type": "synonym"
                },
                {
                    "name": "AWMS2",
                    "type": "synonym"
                },
                {
                    "name": "Slc39a4",
                    "type": "synonym"
                },
                {
                    "name": "ZIP4",
                    "type": "synonym"
                },
                {
                    "name": "Zip4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q78IQ7-1",
            "evidence": [
                {
                    "id": "0050605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P5W5-1",
            "uniprot_ac": "Q6P5W5",
            "uniprot_id": "S39A4_HUMAN",
            "refseq_ac": "NP_060237",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter ZIP4",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 4",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-4",
                    "type": "synonym"
                },
                {
                    "name": "ZRT/IRT-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 4",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter 4",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP4",
                    "type": "synonym"
                },
                {
                    "name": "zrt- and Irt-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC39A4",
                    "type": "recommended"
                },
                {
                    "name": "AEZ",
                    "type": "synonym"
                },
                {
                    "name": "AWMS2",
                    "type": "synonym"
                },
                {
                    "name": "SLC39A4",
                    "type": "synonym"
                },
                {
                    "name": "ZIP4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P5W5-1",
            "evidence": [
                {
                    "id": "201100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/201100"
                },
                {
                    "id": "0050605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0JPN2-1",
            "uniprot_ac": "A0JPN2",
            "uniprot_id": "S39A4_RAT",
            "refseq_ac": "NP_001071137",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc transporter ZIP4",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 39 member 4",
                    "type": "synonym"
                },
                {
                    "name": "ZIP-4",
                    "type": "synonym"
                },
                {
                    "name": "Zrt- and Irt-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 39 (zinc transporter), member 4",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "zinc transporter ZIP4",
                    "type": "synonym"
                },
                {
                    "name": "zrt- and Irt-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc39a4",
                    "type": "recommended"
                },
                {
                    "name": "Slc39a4",
                    "type": "synonym"
                },
                {
                    "name": "Zip4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0JPN2-1",
            "evidence": [
                {
                    "id": "0050605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050605"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050605"
}