{
    "disease_id": "DOID:0111594",
    "recommended_name": {
        "id": "DOID:0111594",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111594",
        "name": "distal arthrogryposis type 5D",
        "description": "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111594",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111594",
            "name": "distal arthrogryposis type 5 without ophthalmoparesis",
            "description": ""
        },
        {
            "id": "DOID:0111594",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111594",
            "name": "DA5D",
            "description": ""
        },
        {
            "id": "DOID:0111594",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111594",
            "name": "distal arthrogryposis type 5 without ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014028",
            "name": "distal arthrogryposis type 5D",
            "description": "Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature."
        },
        {
            "id": "MONDO:0014028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014028",
            "name": "DA5D",
            "description": ""
        },
        {
            "id": "MONDO:0014028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014028",
            "name": "ECEL1 distal arthrogryposis",
            "description": ""
        },
        {
            "id": "MONDO:0014028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014028",
            "name": "distal arthrogryposis caused by mutation in ECEL1",
            "description": ""
        },
        {
            "id": "MONDO:0014028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014028",
            "name": "distal arthrogryposis type 5 without ophthalmoparesis",
            "description": ""
        },
        {
            "id": "MONDO:0014028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014028",
            "name": "distal arthrogryposis type 5 without ophthalmoplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014028",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014028",
            "name": "arthrogryposis, distal, type 5D",
            "description": ""
        },
        {
            "id": "MIM:615065",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615065",
            "name": "Arthrogryposis, distal, 5D",
            "description": "Arthrogryposis, distal, 5D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111594"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111594",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111594",
            "categories": []
        },
        {
            "id": "MONDO:0014028",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014028",
            "categories": []
        },
        {
            "id": "MIM:615065",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615065",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JMI0-1",
            "uniprot_ac": "Q9JMI0",
            "uniprot_id": "ECEL1_MOUSE",
            "refseq_ac": "NP_001264854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-converting enzyme-like 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Damage-induced neuronal endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Xce protein",
                    "type": "synonym"
                },
                {
                    "name": "damage-induced neuronal endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-converting enzyme-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ecel1",
                    "type": "recommended"
                },
                {
                    "name": "DINE",
                    "type": "synonym"
                },
                {
                    "name": "Dine",
                    "type": "synonym"
                },
                {
                    "name": "Ecel1",
                    "type": "synonym"
                },
                {
                    "name": "Xce",
                    "type": "synonym"
                },
                {
                    "name": "xce",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JMI0-1",
            "evidence": [
                {
                    "id": "0111594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95672-1",
            "uniprot_ac": "O95672",
            "uniprot_id": "ECEL1_HUMAN",
            "refseq_ac": "NP_001277716",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-converting enzyme-like 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "X converting enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Xce protein",
                    "type": "synonym"
                },
                {
                    "name": "damage induced neuronal endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-converting enzyme-like 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ECEL1",
                    "type": "recommended"
                },
                {
                    "name": "DA5D",
                    "type": "synonym"
                },
                {
                    "name": "DINE",
                    "type": "synonym"
                },
                {
                    "name": "ECEL1",
                    "type": "synonym"
                },
                {
                    "name": "ECEX",
                    "type": "synonym"
                },
                {
                    "name": "PRO4991",
                    "type": "synonym"
                },
                {
                    "name": "XCE",
                    "type": "synonym"
                }
            ],
            "record_id": "O95672-1",
            "evidence": [
                {
                    "id": "615065",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615065"
                },
                {
                    "id": "0111594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHL3-1",
            "uniprot_ac": "Q9JHL3",
            "uniprot_id": "ECEL1_RAT",
            "refseq_ac": "NP_068544",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-converting enzyme-like 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Damage-induced neuronal endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Xce protein",
                    "type": "synonym"
                },
                {
                    "name": "damage-induced neuronal endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-converting enzyme-like 1",
                    "type": "synonym"
                },
                {
                    "name": "metallopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "xce protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ecel1",
                    "type": "recommended"
                },
                {
                    "name": "Dine",
                    "type": "synonym"
                },
                {
                    "name": "Ecel1",
                    "type": "synonym"
                },
                {
                    "name": "Xce",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHL3-1",
            "evidence": [
                {
                    "id": "0111594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYJ1-1",
            "uniprot_ac": "Q9VYJ1",
            "uniprot_id": "Q9VYJ1_DROME",
            "refseq_ac": "NP_001245645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3775-PB",
                    "type": "synonym"
                },
                {
                    "name": "Nep6-PB",
                    "type": "synonym"
                },
                {
                    "name": "Neprilysin 6, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Neprilysin 6, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin 6, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "zinc metalloprotease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nep6",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH06882",
                    "type": "synonym"
                },
                {
                    "name": "CG3775",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3775",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3775",
                    "type": "synonym"
                },
                {
                    "name": "Nep6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYJ1-1",
            "evidence": [
                {
                    "id": "0111594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMQ2-1",
            "uniprot_ac": "Q8IMQ2",
            "uniprot_id": "Q8IMQ2_DROME",
            "refseq_ac": "NP_733186",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6265-PD",
                    "type": "synonym"
                },
                {
                    "name": "Nep5-PD",
                    "type": "synonym"
                },
                {
                    "name": "Neprilysin 5, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin 5, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nep5",
                    "type": "recommended"
                },
                {
                    "name": "CG6265",
                    "type": "synonym"
                },
                {
                    "name": "DmeNEP5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6265",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6265",
                    "type": "synonym"
                },
                {
                    "name": "NEP5",
                    "type": "synonym"
                },
                {
                    "name": "Nep5",
                    "type": "synonym"
                },
                {
                    "name": "nep5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMQ2-1",
            "evidence": [
                {
                    "id": "0111594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111594"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAS0-1",
            "uniprot_ac": "Q9VAS0",
            "uniprot_id": "Q9VAS0_DROME",
            "refseq_ac": "NP_651645",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14527-PA",
                    "type": "synonym"
                },
                {
                    "name": "Nepl20-PA",
                    "type": "synonym"
                },
                {
                    "name": "Neprilysin-like 20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nepl20",
                    "type": "recommended"
                },
                {
                    "name": "CG14527",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14527",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14527",
                    "type": "synonym"
                },
                {
                    "name": "Nepl20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAS0-1",
            "evidence": [
                {
                    "id": "0111594",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111594"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111594"
}