{
    "disease_id": "DOID:0111789",
    "recommended_name": {
        "id": "DOID:0111789",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111789",
        "name": "Frank-Ter Haar syndrome",
        "description": "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111789",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111789",
            "name": "megalocornea, multiple skeletal anomalies, and developmental delay",
            "description": ""
        },
        {
            "id": "DOID:0111789",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111789",
            "name": "Borrone dermatocardioskeletal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111789",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111789",
            "name": "FTHS",
            "description": ""
        },
        {
            "id": "DOID:0111789",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111789",
            "name": "Ter Haar syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111789",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111789",
            "name": "autosomal recessive Melnick-Needles syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Frank-Ter Haar syndrome",
            "description": "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay."
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Borrone Dermatocardioskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Borrone di Rocco Crovato syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Frank-Ter Haar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Ter Haar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Borrone dermatocardioskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "FTHS",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Frank Ter Haar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Melnick-Needles syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "autosomal recessive Melnick-Needles syndrome (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "megalocornea, multiple skeletal anomalies, and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Frank-Ter Haar syndrome",
            "description": "A syndrome defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay."
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Borrone Dermatocardioskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Borrone di Rocco Crovato syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Frank-Ter Haar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Ter Haar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Borrone dermatocardioskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "FTHS",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Frank Ter Haar syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "Melnick-Needles syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "autosomal recessive Melnick-Needles syndrome (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009579",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "name": "megalocornea, multiple skeletal anomalies, and developmental delay",
            "description": ""
        },
        {
            "id": "MIM:249420",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/249420",
            "name": "Frank-Ter Haar syndrome",
            "description": "Frank-Ter Haar syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111789"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111789",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111789",
            "categories": []
        },
        {
            "id": "MONDO:0009579",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009579",
            "categories": []
        },
        {
            "id": "MIM:249420",
            "database": "MIM",
            "url": "https://www.omim.org/entry/249420",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7G6-1",
            "uniprot_ac": "A0ACD6B7G6",
            "uniprot_id": "A0ACD6B7G6_DANRE",
            "refseq_ac": "XP_073791592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and PX domain-containing protein 2B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sh3pxd2b",
                    "type": "recommended"
                },
                {
                    "name": "sh3pxd2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7G6-1",
            "evidence": [
                {
                    "id": "0111789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111789"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AAY5-1",
            "uniprot_ac": "A2AAY5",
            "uniprot_id": "SPD2B_MOUSE",
            "refseq_ac": "NP_796338",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and PX domain-containing protein 2B",
                    "type": "recommended"
                },
                {
                    "name": "Factor for adipocyte differentiation 49",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and PX domain-containing protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase substrate with four SH3 domains",
                    "type": "synonym"
                },
                {
                    "name": "factor for adipocyte differentiation 49",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase substrate with four SH3 domains",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh3pxd2b",
                    "type": "recommended"
                },
                {
                    "name": "Fad49",
                    "type": "synonym"
                },
                {
                    "name": "G431001E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sh3pxd2b",
                    "type": "synonym"
                },
                {
                    "name": "TSK4",
                    "type": "synonym"
                },
                {
                    "name": "Tks4",
                    "type": "synonym"
                },
                {
                    "name": "fad49",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AAY5-1",
            "evidence": [
                {
                    "id": "0111789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111789"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1X283-1",
            "uniprot_ac": "A1X283",
            "uniprot_id": "SPD2B_HUMAN",
            "refseq_ac": "NP_001017995",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and PX domain-containing protein 2B",
                    "type": "recommended"
                },
                {
                    "name": "Adapter protein HOFI",
                    "type": "synonym"
                },
                {
                    "name": "Factor for adipocyte differentiation 49",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and PX domain-containing protein 2B isoform a",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase substrate with four SH3 domains",
                    "type": "synonym"
                },
                {
                    "name": "adapter protein HOFI",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein HOFI",
                    "type": "synonym"
                },
                {
                    "name": "factor for adipocyte differentiation 49",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase substrate with four SH3 domains",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SH3PXD2B",
                    "type": "recommended"
                },
                {
                    "name": "FAD49",
                    "type": "synonym"
                },
                {
                    "name": "FTHS",
                    "type": "synonym"
                },
                {
                    "name": "HOFI",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1295",
                    "type": "synonym"
                },
                {
                    "name": "SH3PXD2B",
                    "type": "synonym"
                },
                {
                    "name": "TKS4",
                    "type": "synonym"
                },
                {
                    "name": "TSK4",
                    "type": "synonym"
                }
            ],
            "record_id": "A1X283-1",
            "evidence": [
                {
                    "id": "249420",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/249420"
                },
                {
                    "id": "0111789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111789"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29366-1",
            "uniprot_ac": "P29366",
            "uniprot_id": "BEM1_YEAST",
            "refseq_ac": "NP_009759",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bud emergence protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Suppressor of RHO3 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate-binding protein BEM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEM1",
                    "type": "recommended"
                },
                {
                    "name": "BEM1",
                    "type": "synonym"
                },
                {
                    "name": "SRO1",
                    "type": "synonym"
                },
                {
                    "name": "YBR1412",
                    "type": "synonym"
                }
            ],
            "record_id": "P29366-1",
            "evidence": [
                {
                    "id": "0111789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111789"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RCP2-1",
            "uniprot_ac": "M0RCP2",
            "uniprot_id": "M0RCP2_RAT",
            "refseq_ac": "XP_017453105",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and PX domain-containing protein 2B",
                    "type": "recommended"
                },
                {
                    "name": "Factor for adipocyte differentiation 49",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and PX domain-containing protein 2B isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase substrate with four SH3 domains",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh3pxd2b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1309926",
                    "type": "synonym"
                },
                {
                    "name": "Sh3pxd2b",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RCP2-1",
            "evidence": [
                {
                    "id": "0111789",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111789"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111789"
}
