{
    "disease_id": "DOID:0080725",
    "recommended_name": {
        "id": "DOID:0080725",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080725",
        "name": "BASAN syndrome",
        "description": "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet."
    },
    "synonyms": [
        {
            "id": "MONDO:0007507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007507",
            "name": "absence of fingerprints-congenital milia syndrome",
            "description": "Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait."
        },
        {
            "id": "MONDO:0007507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007507",
            "name": "Baird syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007507",
            "name": "absence of dermatoglyphics-congenital milia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007507",
            "name": "Basan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007507",
            "name": "absence of dermatoglyphics congenital milia",
            "description": ""
        },
        {
            "id": "MONDO:0007507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007507",
            "name": "absence of fingerprints congenital milia",
            "description": ""
        },
        {
            "id": "MONDO:0007507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007507",
            "name": "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities",
            "description": ""
        },
        {
            "id": "MIM:129200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/129200",
            "name": "Basan syndrome",
            "description": "Basan syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080725"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080725",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080725",
            "categories": []
        },
        {
            "id": "MONDO:0007507",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007507",
            "categories": []
        },
        {
            "id": "MIM:129200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/129200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0R061-1",
            "uniprot_ac": "B0R061",
            "uniprot_id": "SMRDA_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smarcad1a",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-247l22.2",
                    "type": "synonym"
                },
                {
                    "name": "smarcad1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi25c01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113183",
                    "type": "synonym"
                }
            ],
            "record_id": "B0R061-1",
            "evidence": [
                {
                    "id": "0080725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F1C4-1",
            "uniprot_ac": "E7F1C4",
            "uniprot_id": "SMRDB_DANRE",
            "refseq_ac": "NP_001340797",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1b",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smarcad1b",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-76p7.6",
                    "type": "synonym"
                },
                {
                    "name": "smarcad1b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F1C4-1",
            "evidence": [
                {
                    "id": "0080725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04692-1",
            "uniprot_ac": "Q04692",
            "uniprot_id": "SMRCD_MOUSE",
            "refseq_ac": "NP_001240321",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase SMARCAD1",
                    "type": "synonym"
                },
                {
                    "name": "Enhancer trap locus homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Etl-1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1",
                    "type": "synonym"
                },
                {
                    "name": "enhancer trap locus 1",
                    "type": "synonym"
                },
                {
                    "name": "enhancer trap locus homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarcad1",
                    "type": "recommended"
                },
                {
                    "name": "D6Pas1",
                    "type": "synonym"
                },
                {
                    "name": "Etl1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1122",
                    "type": "synonym"
                },
                {
                    "name": "Smarcad1",
                    "type": "synonym"
                },
                {
                    "name": "etl-1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1122",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04692-1",
            "evidence": [
                {
                    "id": "0080725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H4L7-1",
            "uniprot_ac": "Q9H4L7",
            "uniprot_id": "SMRCD_HUMAN",
            "refseq_ac": "NP_001121901",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent helicase 1",
                    "type": "synonym"
                },
                {
                    "name": "HPGDS antisense RNA 1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCAD1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1",
                    "type": "synonym"
                },
                {
                    "name": "sclerotylosis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMARCAD1",
                    "type": "recommended"
                },
                {
                    "name": "ADERM",
                    "type": "synonym"
                },
                {
                    "name": "BASNS",
                    "type": "synonym"
                },
                {
                    "name": "ETL1",
                    "type": "synonym"
                },
                {
                    "name": "HEL1",
                    "type": "synonym"
                },
                {
                    "name": "HPGDS-AS1",
                    "type": "synonym"
                },
                {
                    "name": "HRZ",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1122",
                    "type": "synonym"
                },
                {
                    "name": "SMARCAD1",
                    "type": "synonym"
                },
                {
                    "name": "TYS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H4L7-1",
            "evidence": [
                {
                    "id": "129200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/129200"
                },
                {
                    "id": "0080725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31380-1",
            "uniprot_ac": "P31380",
            "uniprot_id": "FUN30_YEAST",
            "refseq_ac": "NP_009383",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromatin remodeling protein FUN30",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Chromatin remodeler FUN30",
                    "type": "synonym"
                },
                {
                    "name": "DNA-dependent ATPase FUN30",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FUN30",
                    "type": "recommended"
                },
                {
                    "name": "FUN30",
                    "type": "synonym"
                },
                {
                    "name": "YAL001",
                    "type": "synonym"
                }
            ],
            "record_id": "P31380-1",
            "evidence": [
                {
                    "id": "0080725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z9Z9-1",
            "uniprot_ac": "D3Z9Z9",
            "uniprot_id": "SMRCD_RAT",
            "refseq_ac": "NP_001101334",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1`",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarcad1",
                    "type": "recommended"
                },
                {
                    "name": "Smarcad1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z9Z9-1",
            "evidence": [
                {
                    "id": "0080725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL72-1",
            "uniprot_ac": "Q9VL72",
            "uniprot_id": "SMRCD_DROME",
            "refseq_ac": "NP_609320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5899-PA",
                    "type": "synonym"
                },
                {
                    "name": "Enhancer trap locus homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Etl-1",
                    "type": "synonym"
                },
                {
                    "name": "Etl1 homologue",
                    "type": "synonym"
                },
                {
                    "name": "Etl1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Etl1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Etl1",
                    "type": "recommended"
                },
                {
                    "name": "CG5899",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5899",
                    "type": "synonym"
                },
                {
                    "name": "ETL1",
                    "type": "synonym"
                },
                {
                    "name": "Etl1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCAD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL72-1",
            "evidence": [
                {
                    "id": "0080725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080725"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080725"
}