{
    "disease_id": "DOID:0111550",
    "recommended_name": {
        "id": "DOID:0111550",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111550",
        "name": "scalp-ear-nipple syndrome",
        "description": "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111550",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111550",
            "name": "Finlay-Marks syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111550",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111550",
            "name": "SENS",
            "description": ""
        },
        {
            "id": "DOID:0111550",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111550",
            "name": "Sen Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111550",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111550",
            "name": "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "scalp-ear-nipple syndrome",
            "description": "Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant."
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "Finlay-Marks syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "scalp-ear-nipple syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "SENS",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "Sen syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples",
            "description": ""
        },
        {
            "id": "MONDO:0008404",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "name": "scalp ear nipple syndrome",
            "description": ""
        },
        {
            "id": "MIM:181270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/181270",
            "name": "Scalp-ear-nipple syndrome",
            "description": "Scalp-ear-nipple syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111550"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111550",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111550",
            "categories": []
        },
        {
            "id": "MONDO:0008404",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008404",
            "categories": []
        },
        {
            "id": "MIM:181270",
            "database": "MIM",
            "url": "https://www.omim.org/entry/181270",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ALF6-1",
            "uniprot_ac": "A0A8M3ALF6",
            "uniprot_id": "A0A8M3ALF6_DANRE",
            "refseq_ac": "XP_009292901",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kctd1",
                    "type": "recommended"
                },
                {
                    "name": "kctd1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ALF6-1",
            "evidence": [
                {
                    "id": "0111550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M956-1",
            "uniprot_ac": "Q5M956",
            "uniprot_id": "KCTD1_MOUSE",
            "refseq_ac": "NP_598873",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD1",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel tetramerization domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel tetramerization domain containing 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd1",
                    "type": "recommended"
                },
                {
                    "name": "4933402K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kctd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M956-1",
            "evidence": [
                {
                    "id": "0111550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q719H9-1",
            "uniprot_ac": "Q719H9",
            "uniprot_id": "KCTD1_HUMAN",
            "refseq_ac": "NP_001129677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD1",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel tetramerization domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCTD1",
                    "type": "recommended"
                },
                {
                    "name": "C18orf5",
                    "type": "synonym"
                },
                {
                    "name": "DNRD",
                    "type": "synonym"
                },
                {
                    "name": "KCTD1",
                    "type": "synonym"
                },
                {
                    "name": "RMDA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q719H9-1",
            "evidence": [
                {
                    "id": "181270",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/181270"
                },
                {
                    "id": "0111550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R4G8-1",
            "uniprot_ac": "Q8R4G8",
            "uniprot_id": "KCTD1_RAT",
            "refseq_ac": "XP_038952670",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD1",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD1 isoform X3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel tetramerization domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Vitamin A-deficient testicular protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd1",
                    "type": "recommended"
                },
                {
                    "name": "Kctd1",
                    "type": "synonym"
                },
                {
                    "name": "Vad5",
                    "type": "synonym"
                },
                {
                    "name": "Vad6",
                    "type": "synonym"
                },
                {
                    "name": "Vad",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R4G8-1",
            "evidence": [
                {
                    "id": "0111550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D5SHR0-1",
            "uniprot_ac": "D5SHR0",
            "uniprot_id": "TIWAZ_DROME",
            "refseq_ac": "NP_001246449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein Tiwaz",
                    "type": "recommended"
                },
                {
                    "name": "CG10440-PB",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel tetramerization domain-containing protein Tiwaz",
                    "type": "synonym"
                },
                {
                    "name": "tiwaz, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "tiwaz",
                    "type": "synonym"
                },
                {
                    "name": "twz-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "twz",
                    "type": "recommended"
                },
                {
                    "name": "CG10440",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10440",
                    "type": "synonym"
                },
                {
                    "name": "Twz",
                    "type": "synonym"
                },
                {
                    "name": "twz",
                    "type": "synonym"
                }
            ],
            "record_id": "D5SHR0-1",
            "evidence": [
                {
                    "id": "0111550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111550"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111550"
}