{
    "disease_id": "DOID:0111357",
    "recommended_name": {
        "id": "DOID:0111357",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111357",
        "name": "adermatoglyphia",
        "description": "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111357",
            "name": "ADERM",
            "description": ""
        },
        {
            "id": "DOID:0111357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111357",
            "name": "ADG",
            "description": ""
        },
        {
            "id": "DOID:0111357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111357",
            "name": "Absence of fingerprints",
            "description": ""
        },
        {
            "id": "DOID:0111357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111357",
            "name": "Congenital absence of fingerprints",
            "description": ""
        },
        {
            "id": "DOID:0111357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111357",
            "name": "Immigration delay disease",
            "description": ""
        },
        {
            "id": "DOID:0111357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111357",
            "name": "Isolated congenital adermatoglyphia",
            "description": ""
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "isolated congenital adermatoglyphia",
            "description": "Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles."
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "ADG",
            "description": ""
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "absence of fingerprints",
            "description": ""
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "adermatoglyphia",
            "description": ""
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "fingerprints, absence of",
            "description": ""
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "ADERM",
            "description": ""
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "congenital absence of fingerprints",
            "description": ""
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "immigration delay disease",
            "description": ""
        },
        {
            "id": "MONDO:0007619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "name": "isolated congenital adermatoglyphia",
            "description": ""
        },
        {
            "id": "MIM:136000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/136000",
            "name": "Adermatoglyphia",
            "description": "Adermatoglyphia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111357"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111357",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111357",
            "categories": []
        },
        {
            "id": "MONDO:0007619",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007619",
            "categories": []
        },
        {
            "id": "MIM:136000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/136000",
            "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": "0111357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111357"
                }
            ]
        },
        {
            "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": "0111357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111357"
                }
            ]
        },
        {
            "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": "0111357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111357"
                }
            ]
        },
        {
            "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": "136000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/136000"
                },
                {
                    "id": "0111357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111357"
                }
            ]
        },
        {
            "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": "0111357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111357"
                }
            ]
        },
        {
            "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": "0111357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111357"
                }
            ]
        },
        {
            "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": "0111357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111357"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111357"
}