{
    "disease_id": "DOID:0111358",
    "recommended_name": {
        "id": "DOID:0111358",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111358",
        "name": "Floating-Harbor syndrome",
        "description": "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111358",
            "name": "FLHS",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "Floating-Harbor syndrome",
            "description": "Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay."
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "Floating Harbor Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "floating-HARBOR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "floating-Harbor syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "FHS",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "FLHS",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "Pelletier-Leisti syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007621",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "name": "short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes",
            "description": ""
        },
        {
            "id": "MIM:136140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/136140",
            "name": "Floating-Harbor syndrome",
            "description": "Floating-Harbor syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111358"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111358",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111358",
            "categories": []
        },
        {
            "id": "MONDO:0007621",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007621",
            "categories": []
        },
        {
            "id": "MIM:136140",
            "database": "MIM",
            "url": "https://www.omim.org/entry/136140",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B358-1",
            "uniprot_ac": "A0A8M2B358",
            "uniprot_id": "A0A8M2B358_DANRE",
            "refseq_ac": "XP_073774611",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein srcap isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein srcap isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "srcap",
                    "type": "recommended"
                },
                {
                    "name": "srcap",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B358-1",
            "evidence": [
                {
                    "id": "0111358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A087WQ44-1",
            "uniprot_ac": "A0A087WQ44",
            "uniprot_id": "A0A087WQ44_MOUSE",
            "refseq_ac": "NP_001291195",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Snf2-related CBP activator protein",
                    "type": "synonym"
                },
                {
                    "name": "Snf2-related CREBBP activator protein",
                    "type": "synonym"
                },
                {
                    "name": "helicase SRCAP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srcap",
                    "type": "recommended"
                },
                {
                    "name": "B930091H02Rik",
                    "type": "synonym"
                },
                {
                    "name": "D030022P06Rik",
                    "type": "synonym"
                },
                {
                    "name": "F630004O05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Srcap",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A087WQ44-1",
            "evidence": [
                {
                    "id": "0111358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZRS2-1",
            "uniprot_ac": "Q6ZRS2",
            "uniprot_id": "SRCAP_HUMAN",
            "refseq_ac": "NP_006653",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromatin remodeling protein SRCAP",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Domino homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Snf2-related CBP activator protein",
                    "type": "synonym"
                },
                {
                    "name": "Snf2-related CBP activator",
                    "type": "synonym"
                },
                {
                    "name": "Swi2/Snf2-related ATPase homolog, domino homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "chromatin remodeling protein SRCAP",
                    "type": "synonym"
                },
                {
                    "name": "domino homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "helicase SRCAP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRCAP",
                    "type": "recommended"
                },
                {
                    "name": "DEHMBA",
                    "type": "synonym"
                },
                {
                    "name": "DOMO1",
                    "type": "synonym"
                },
                {
                    "name": "FLHS",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0309",
                    "type": "synonym"
                },
                {
                    "name": "SRCAP",
                    "type": "synonym"
                },
                {
                    "name": "SWR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZRS2-1",
            "evidence": [
                {
                    "id": "136140",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/136140"
                },
                {
                    "id": "0111358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05471-1",
            "uniprot_ac": "Q05471",
            "uniprot_id": "SWR1_YEAST",
            "refseq_ac": "NP_010621",
            "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 SWR1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Swi2/Snf2-related 1",
                    "type": "synonym"
                },
                {
                    "name": "chromatin-remodeling protein SWR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SWR1",
                    "type": "recommended"
                },
                {
                    "name": "D9651.6",
                    "type": "synonym"
                },
                {
                    "name": "SWR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05471-1",
            "evidence": [
                {
                    "id": "0111358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZYJ1-1",
            "uniprot_ac": "A0A8I5ZYJ1",
            "uniprot_id": "A0A8I5ZYJ1_RAT",
            "refseq_ac": "NP_001413863",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Snf2-related CREBBP activator protein",
                    "type": "synonym"
                },
                {
                    "name": "helicase SRCAP-like",
                    "type": "synonym"
                },
                {
                    "name": "helicase SRCAP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srcap",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565642",
                    "type": "synonym"
                },
                {
                    "name": "Srcap",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZYJ1-1",
            "evidence": [
                {
                    "id": "0111358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NDJ2-1",
            "uniprot_ac": "Q9NDJ2",
            "uniprot_id": "DOM_DROME",
            "refseq_ac": "NP_524833",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chromatin remodeling protein domino",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "CG9696-PA",
                    "type": "synonym"
                },
                {
                    "name": "Domino-A",
                    "type": "synonym"
                },
                {
                    "name": "dom-PA",
                    "type": "synonym"
                },
                {
                    "name": "domino DNA dependent ATPase",
                    "type": "synonym"
                },
                {
                    "name": "domino, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "domino",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dom",
                    "type": "recommended"
                },
                {
                    "name": "27/4",
                    "type": "synonym"
                },
                {
                    "name": "4",
                    "type": "synonym"
                },
                {
                    "name": "8",
                    "type": "synonym"
                },
                {
                    "name": "CG9696",
                    "type": "synonym"
                },
                {
                    "name": "DOM-A",
                    "type": "synonym"
                },
                {
                    "name": "DOM",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9696",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9696",
                    "type": "synonym"
                },
                {
                    "name": "DomA",
                    "type": "synonym"
                },
                {
                    "name": "Domino",
                    "type": "synonym"
                },
                {
                    "name": "Dom",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.190",
                    "type": "synonym"
                },
                {
                    "name": "dDom",
                    "type": "synonym"
                },
                {
                    "name": "dEP400",
                    "type": "synonym"
                },
                {
                    "name": "dom",
                    "type": "synonym"
                },
                {
                    "name": "l(2)81/8",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k02704",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k08108",
                    "type": "synonym"
                },
                {
                    "name": "p400",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NDJ2-1",
            "evidence": [
                {
                    "id": "0111358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111358"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111358"
}