{
    "disease_id": "DOID:0060550",
    "recommended_name": {
        "id": "DOID:0060550",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060550",
        "name": "ablepharon macrostomia syndrome",
        "description": "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "MONDO:0008693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008693",
            "name": "ablepharon macrostomia syndrome",
            "description": "Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome."
        },
        {
            "id": "MONDO:0008693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008693",
            "name": "AMS",
            "description": ""
        },
        {
            "id": "MONDO:0008693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008693",
            "name": "Ablepharon-Macrostomia Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008693",
            "name": "ablepharon-macrostomia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008693",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008693",
            "name": "congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies",
            "description": ""
        },
        {
            "id": "MIM:200110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200110",
            "name": "Ablepharon-macrostomia syndrome",
            "description": "Ablepharon-macrostomia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060550"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060550",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060550",
            "categories": []
        },
        {
            "id": "MONDO:0008693",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008693",
            "categories": []
        },
        {
            "id": "MIM:200110",
            "database": "MIM",
            "url": "https://www.omim.org/entry/200110",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DEF6-1",
            "uniprot_ac": "Q6DEF6",
            "uniprot_id": "USB1_DANRE",
            "refseq_ac": "NP_001003460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "UPF0406 protein C16orf57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative U6 snRNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "usb1",
                    "type": "recommended"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                },
                {
                    "name": "usb1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91896",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DEF6-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D030-1",
            "uniprot_ac": "Q9D030",
            "uniprot_id": "TWST2_MOUSE",
            "refseq_ac": "NP_031881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twist-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Dermis-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Dermo-1",
                    "type": "synonym"
                },
                {
                    "name": "dermis-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twist2",
                    "type": "recommended"
                },
                {
                    "name": "Dermo1",
                    "type": "synonym"
                },
                {
                    "name": "Twist2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D030-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91W78-1",
            "uniprot_ac": "Q91W78",
            "uniprot_id": "USB1_MOUSE",
            "refseq_ac": "NP_598715",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "UPF0406 protein C16orf57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative U6 snRNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usb1",
                    "type": "recommended"
                },
                {
                    "name": "AA960436",
                    "type": "synonym"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                },
                {
                    "name": "Usb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91W78-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WVJ9-1",
            "uniprot_ac": "Q8WVJ9",
            "uniprot_id": "TWST2_HUMAN",
            "refseq_ac": "NP_001258822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twist-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 39",
                    "type": "synonym"
                },
                {
                    "name": "Dermis-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Dermo-1",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa39",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 39",
                    "type": "synonym"
                },
                {
                    "name": "dermis-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "twist basic helix-loop-helix transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "twist-related bHLH protein Dermo1",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TWIST2",
                    "type": "recommended"
                },
                {
                    "name": "AMS",
                    "type": "synonym"
                },
                {
                    "name": "BBRSAY",
                    "type": "synonym"
                },
                {
                    "name": "BHLHA39",
                    "type": "synonym"
                },
                {
                    "name": "DERMO1",
                    "type": "synonym"
                },
                {
                    "name": "FFDD3",
                    "type": "synonym"
                },
                {
                    "name": "SETLSS",
                    "type": "synonym"
                },
                {
                    "name": "TWIST2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WVJ9-1",
            "evidence": [
                {
                    "id": "200110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/200110"
                },
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12208-1",
            "uniprot_ac": "Q12208",
            "uniprot_id": "USB1_YEAST",
            "refseq_ac": "NP_013233",
            "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": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic phosphodiesterase USB1",
                    "type": "synonym"
                },
                {
                    "name": "U six biogenesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoric diester hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USB1",
                    "type": "recommended"
                },
                {
                    "name": "L3127",
                    "type": "synonym"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12208-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97831-1",
            "uniprot_ac": "P97831",
            "uniprot_id": "TWST2_RAT",
            "refseq_ac": "NP_067723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Twist-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "dermo-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "twist basic helix-loop-helix transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "twist homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "twist-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Twist2",
                    "type": "recommended"
                },
                {
                    "name": "Dermo1",
                    "type": "synonym"
                },
                {
                    "name": "Twist2",
                    "type": "synonym"
                }
            ],
            "record_id": "P97831-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0I5-1",
            "uniprot_ac": "Q5I0I5",
            "uniprot_id": "USB1_RAT",
            "refseq_ac": "NP_001014035",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA biogenesis 1",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "UPF0406 protein C16orf57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative U6 snRNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usb1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305215",
                    "type": "synonym"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                },
                {
                    "name": "Usb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0I5-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10627-1",
            "uniprot_ac": "P10627",
            "uniprot_id": "TWIST_DROME",
            "refseq_ac": "NP_001033967",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein twist",
                    "type": "recommended"
                },
                {
                    "name": "CG2956-PB",
                    "type": "synonym"
                },
                {
                    "name": "twi-PB",
                    "type": "synonym"
                },
                {
                    "name": "twist, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "twist",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "twi",
                    "type": "recommended"
                },
                {
                    "name": "CG2956",
                    "type": "synonym"
                },
                {
                    "name": "DTwist",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2956",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2956",
                    "type": "synonym"
                },
                {
                    "name": "EC9",
                    "type": "synonym"
                },
                {
                    "name": "TWI",
                    "type": "synonym"
                },
                {
                    "name": "Twist",
                    "type": "synonym"
                },
                {
                    "name": "Twi",
                    "type": "synonym"
                },
                {
                    "name": "Tw",
                    "type": "synonym"
                },
                {
                    "name": "bHLHb17",
                    "type": "synonym"
                },
                {
                    "name": "dip5",
                    "type": "synonym"
                },
                {
                    "name": "twi",
                    "type": "synonym"
                }
            ],
            "record_id": "P10627-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHB3-1",
            "uniprot_ac": "Q9VHB3",
            "uniprot_id": "USB1_DROME",
            "refseq_ac": "NP_649911",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG16790-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG16790",
                    "type": "recommended"
                },
                {
                    "name": "CG16790",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16790",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16790",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHB3-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQ65-1",
            "uniprot_ac": "Q9BQ65",
            "uniprot_id": "USB1_HUMAN",
            "refseq_ac": "NP_001182231",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "HVSL motif containing 1",
                    "type": "synonym"
                },
                {
                    "name": "Mutated in PN protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mutated in poikiloderma with neutropenia protein 1",
                    "type": "synonym"
                },
                {
                    "name": "U six biogenesis 1",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA biogenesis 1",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "UPF0406 protein C16orf57",
                    "type": "synonym"
                },
                {
                    "name": "hMpn1",
                    "type": "synonym"
                },
                {
                    "name": "hUsb1",
                    "type": "synonym"
                },
                {
                    "name": "mutated in PN protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mutated in poikiloderma with neutropenia protein 1",
                    "type": "synonym"
                },
                {
                    "name": "putative U6 snRNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USB1",
                    "type": "recommended"
                },
                {
                    "name": "C16orf57",
                    "type": "synonym"
                },
                {
                    "name": "HVSL1",
                    "type": "synonym"
                },
                {
                    "name": "Mpn1",
                    "type": "synonym"
                },
                {
                    "name": "PN",
                    "type": "synonym"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                },
                {
                    "name": "hMpn1",
                    "type": "synonym"
                },
                {
                    "name": "hUsb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQ65-1",
            "evidence": [
                {
                    "id": "0060550",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060550"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060550"
}