GET /api/v1/panels/123/?version=2.0
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{
    "id": 123,
    "name": "Hereditary haemorrhagic telangiectasia",
    "strs": [],
    "genes": [
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
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                    "HHT2",
                    "ALK1",
                    "HHT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:175",
                "gene_name": "activin A receptor like type 1",
                "omim_gene": [
                    "601284"
                ],
                "alias_name": null,
                "gene_symbol": "ACVRL1",
                "hgnc_symbol": "ACVRL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:52300692-52317145",
                            "ensembl_id": "ENSG00000139567"
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                            "ensembl_id": "ENSG00000139567"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 2 600376",
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                "telangiectasia",
                "hepatic arteriovenous malformation",
                "pulmonary arteriovenous malformation",
                "cerebral pulmonary arteriovenous malformation",
                "pulmonary arterial hypertension"
            ],
            "transcript": null,
            "entity_name": "ACVRL1",
            "entity_type": "gene",
            "publications": [
                "8640225",
                "16155196",
                "14684682"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
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                    "END",
                    "HHT1",
                    "CD105"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3349",
                "gene_name": "endoglin",
                "omim_gene": [
                    "131195"
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                "alias_name": null,
                "gene_symbol": "ENG",
                "hgnc_symbol": "ENG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "9:130577291-130617035",
                            "ensembl_id": "ENSG00000106991"
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                    }
                },
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            },
            "penetrance": "Complete",
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 1, 187300",
                "Epistaxis (HP:0000421)",
                "Nasal mucosa telangiectasia (HP:0000434)",
                "Lip telangiectasia (HP:0000214)",
                "Tongue telangiectasia (HP:0000227)",
                "Palate telangiectasia (HP:0002707)",
                "Finger pad telangiectasia (pulp not nail side)",
                "Gastrointestinal telangiectasia (HP:0002604)",
                "Arteriovenous malformation (HP:0100026)",
                "Cerebral arteriovenous malformation (HP:0002408)",
                "Pulmonary arteriovenous malformation (HP:0006548)",
                "Hepatic arteriovenous malformation (HP:0006574",
                ")",
                "Spinal arteriovenous malformation (HP:0002390)"
            ],
            "transcript": null,
            "entity_name": "ENG",
            "entity_type": "gene",
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                "7894484",
                "16155196",
                "14684682",
                "22192717",
                "21967607",
                "28989145"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Green",
                "Other"
            ],
            "gene_data": {
                "alias": [
                    "Tyro11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3395",
                "gene_name": "EPH receptor B4",
                "omim_gene": [
                    "600011"
                ],
                "alias_name": null,
                "gene_symbol": "EPHB4",
                "hgnc_symbol": "EPHB4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "7:100400187-100425121",
                            "ensembl_id": "ENSG00000196411"
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                    },
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-15"
            },
            "penetrance": "Incomplete",
            "phenotypes": [
                "Capillary malformation-arteriovenous malformation 2, 618196",
                "Capillary malformation, epistaxis, telangiectasia, cerebral AVM"
            ],
            "transcript": null,
            "entity_name": "EPHB4",
            "entity_type": "gene",
            "publications": [
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                "28730721",
                "30760892"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "mode_of_pathogenicity": null
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Eligibility statement prior genetic testing",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "DPC4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6770",
                "gene_name": "SMAD family member 4",
                "omim_gene": [
                    "600993"
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                "alias_name": null,
                "gene_symbol": "SMAD4",
                "hgnc_symbol": "SMAD4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "18:48494410-48611415",
                            "ensembl_id": "ENSG00000141646"
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                    },
                    "GRch38": {
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                            "location": "18:51028394-51085045",
                            "ensembl_id": "ENSG00000141646"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-05-26"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050"
            ],
            "transcript": null,
            "entity_name": "SMAD4",
            "entity_type": "gene",
            "publications": [
                "15031030"
            ],
            "confidence_level": "3",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Amber",
                "NHS GMS"
            ],
            "gene_data": {
                "alias": [
                    "BRK-3",
                    "T-ALK",
                    "BMPR3",
                    "BMPR-II"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1078",
                "gene_name": "bone morphogenetic protein receptor type 2",
                "omim_gene": [
                    "600799"
                ],
                "alias_name": null,
                "gene_symbol": "BMPR2",
                "hgnc_symbol": "BMPR2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:203241659-203432474",
                            "ensembl_id": "ENSG00000204217"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "2:202376936-202567751",
                            "ensembl_id": "ENSG00000204217"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-03-19"
            },
            "penetrance": null,
            "phenotypes": [
                "Pulmonary hypertension, familial primary, 1, with or without HHT, 178600"
            ],
            "transcript": null,
            "entity_name": "BMPR2",
            "entity_type": "gene",
            "publications": [
                "18792970"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "NHS GMS",
                "Expert Review Amber",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Expert Review"
            ],
            "gene_data": {
                "alias": [
                    "BMP-9",
                    "BMP9"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:4217",
                "gene_name": "growth differentiation factor 2",
                "omim_gene": [
                    "605120"
                ],
                "alias_name": null,
                "gene_symbol": "GDF2",
                "hgnc_symbol": "GDF2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
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                            "ensembl_id": "ENSG00000128802"
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                    },
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                            "ensembl_id": "ENSG00000263761"
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                    }
                },
                "hgnc_date_symbol_changed": "1997-09-12"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 5\t615506"
            ],
            "transcript": null,
            "entity_name": "GDF2",
            "entity_type": "gene",
            "publications": [
                "23972370 - 3 unrelated probands with no variants identified in ENG, ACVRL1, and SMAD4",
                "27081547 - a variant of unknown significance in GDF2 was detected in one of 93 unrelated individuals clinically suspected to have HHT who previously tested negative for mutations in ENG, ACVRL1 and SMAD4",
                "25674101 - review from the same authors as PMID:23972370"
            ],
            "confidence_level": "2",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
                "Illumina TruGenome Clinical Sequencing Services",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "TEL1",
                    "TELO1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:795",
                "gene_name": "ATM serine/threonine kinase",
                "omim_gene": [
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                "alias_name": [
                    "TEL1, telomere maintenance 1, homolog (S. cerevisiae)"
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                "hgnc_symbol": "ATM",
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                "ensembl_genes": {
                    "GRch37": {
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                            "location": "11:108093211-108239829",
                            "ensembl_id": "ENSG00000149311"
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                            "ensembl_id": "ENSG00000149311"
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                "hgnc_date_symbol_changed": "1995-07-07"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Ataxia-telangiectasia, 208900"
            ],
            "transcript": null,
            "entity_name": "ATM",
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                "6417247",
                "2666519",
                "2212727"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "Radboud University Medical Center, Nijmegen"
            ],
            "gene_data": {
                "alias": [
                    "FRP1",
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                    "SCKL1",
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            "penetrance": "Complete",
            "phenotypes": [
                "Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic)"
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            "transcript": null,
            "entity_name": "ATR",
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            "mode_of_pathogenicity": ""
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        {
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                "Expert Review Red",
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                            "ensembl_id": "ENSG00000103241"
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            "penetrance": "Complete",
            "phenotypes": [
                "Alveolar capillary dysplasia with misalignment of pulmonary veins 265380"
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                "27071622"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
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                "Emory Genetics Laboratory",
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                "Illumina TruGenome Clinical Sequencing Services"
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            "gene_data": {
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                "hgnc_date_symbol_changed": "2005-03-17"
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            "penetrance": "Complete",
            "phenotypes": [
                "Cavernous malformations of CNS and retina 116860",
                "Cerebral cavernous malformations-1 116860",
                "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860"
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            "transcript": null,
            "entity_name": "KRIT1",
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
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        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
                "UKGTN",
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                "hgnc_date_symbol_changed": "2016-09-30"
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            "penetrance": "Complete",
            "phenotypes": [
                "Ataxia-telangiectasia-like disorder, 604391"
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            "entity_name": "MRE11",
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                "2666519",
                "2212727"
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            "confidence_level": "1",
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Expert Review Red",
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            "gene_data": {
                "alias": [
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8975",
                "gene_name": "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha",
                "omim_gene": [
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                            "location": "3:178865902-178957881",
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            "penetrance": "Complete",
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                "27030595"
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                "Illumina TruGenome Clinical Sequencing Services",
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            "penetrance": "Complete",
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                "Capillary malformation-arteriovenous malformation\t608354"
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                "27081547"
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            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
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                "Radboud University Medical Center, Nijmegen"
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            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
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                "alias_name": null,
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                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:62679076-62680994",
                            "ensembl_id": "ENSG00000203883"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:64047582-64049641",
                            "ensembl_id": "ENSG00000203883"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2000-07-31"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Hypotrichosis-lymphedema-telangiectasia syndrome, 607823",
                "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome\t137940"
            ],
            "transcript": null,
            "entity_name": "SOX18",
            "entity_type": "gene",
            "publications": [],
            "confidence_level": "1",
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "mode_of_pathogenicity": ""
        },
        {
            "tags": [],
            "evidence": [
                "Radboud University Medical Center, Nijmegen",
                "Expert Review Red",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "gene_data": {
                "alias": [
                    "TIE2",
                    "TIE-2",
                    "VMCM1",
                    "CD202b"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:11724",
                "gene_name": "TEK receptor tyrosine kinase",
                "omim_gene": [
                    "600221"
                ],
                "alias_name": null,
                "gene_symbol": "TEK",
                "hgnc_symbol": "TEK",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:27109139-27230173",
                            "ensembl_id": "ENSG00000120156"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:27109141-27230175",
                            "ensembl_id": "ENSG00000120156"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-05-24"
            },
            "penetrance": "Complete",
            "phenotypes": [
                "Venous malformations, multiple cutaneous and mucosal 600195"
            ],
            "transcript": null,
            "entity_name": "TEK",
            "entity_type": "gene",
            "publications": [
                "27519652"
            ],
            "confidence_level": "1",
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "mode_of_pathogenicity": ""
        }
    ],
    "stats": {
        "number_of_strs": 0,
        "number_of_genes": 15,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease",
            "slug": "gms-rare-disease",
            "description": "This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "status": "public",
    "hash_id": "5633857722c1fc582756e3d9",
    "regions": [],
    "version": "2.0",
    "disease_group": "Respiratory disorders",
    "version_created": "2019-09-23T17:00:03.179221Z",
    "disease_sub_group": "Vascular lung disorders",
    "relevant_disorders": [
        "Familial and multiple pulmonary arteriovenous malformations",
        "R186"
    ],
    "signed_off": null
}