{ "url": "https://dantelabs.com/sv/genes/smad4", "gene": { "slug": "smad4", "symbol": "SMAD4", "name": "SMAD family member 4", "hgnc": "HGNC:6770", "summary": null, "location": "18q21.2", "locusType": "gene with protein product", "aliases": [ "DPC4" ], "previousSymbols": [ "MADH4" ], "ensemblId": "ENSG00000141646", "entrezId": 4089, "omim": [ "600993" ], "uniprot": [ "Q13485" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "18", "start": 51030213, "end": 51085042, "strand": "+", "ensemblTranscript": "ENST00000342988.8", "refseqTranscript": "NM_005359.6", "ensemblProtein": "ENSP00000341551.3", "refseqProtein": "NP_005350.1", "exons": [ { "start": 51030213, "end": 51030623 }, { "start": 51046920, "end": 51047295 }, { "start": 51048686, "end": 51048860 }, { "start": 51049295, "end": 51049324 }, { "start": 51054781, "end": 51054993 }, { "start": 51058125, "end": 51058244 }, { "start": 51058340, "end": 51058456 }, { "start": 51059866, "end": 51059916 }, { "start": 51065423, "end": 51065606 }, { "start": 51067019, "end": 51067187 }, { "start": 51076638, "end": 51076776 }, { "start": 51078256, "end": 51085042 } ], "cds": { "start": 51047047, "end": 51078467 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "18", "start": 48494410, "end": 48611415, "strand": "+" }, "neighbourhood": { "release": "116", "start": 50557628, "end": 51557627, "genes": [ { "symbol": "MAPK4", "ensemblId": "ENSG00000141639", "biotype": "protein_coding", "start": 50559451, "end": 50731830, "strand": "+", "slug": "mapk4" }, { "symbol": "MRO", "ensemblId": "ENSG00000134042", "biotype": "protein_coding", "start": 50795120, "end": 50843112, "strand": "-", "slug": "mro" }, { "symbol": "ME2", "ensemblId": "ENSG00000082212", "biotype": "protein_coding", "start": 50878664, "end": 50954257, "strand": "+", "slug": "me2" }, { "symbol": "ELAC1", "ensemblId": "ENSG00000141642", "biotype": "protein_coding", "start": 50967989, "end": 51000735, "strand": "+", "slug": "elac1" }, { "symbol": "", "ensemblId": "ENSG00000267699", "biotype": "protein_coding", "start": 50968019, "end": 51058144, "strand": "+" }, { "symbol": "MEX3C", "ensemblId": "ENSG00000176624", "biotype": "protein_coding", "start": 51174550, "end": 51218333, "strand": "-", "slug": "mex3c" } ], "truncated": false }, "reports": [ { "slug": "hereditary-hemorrhagic-telangiectasia", "name": "Hereditär hemorragisk telangiektasi", "diseases": [ { "mondoId": "MONDO:0008278", "name": "Juvenil polypos/hereditär hemorragisk teleangiektasi-syndrom", "genes": 1, "inheritance": "autosomal-dominant", "description": "Ett tillstånd orsakat av förändringar i SMAD4 som kombinerar polyper i mag-tarmkanalen med de blodkärlsavvikelser som karakteriserar hereditär hemorragisk teleangiektasi.", "management": "Om du känner till detta kan det stödja screening för blodkärlsmissbildningar i lungorna och hjärnan, samt regelbunden uppföljning av tarm och magsäck.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/hereditary-hemorrhagic-telangiectasia" }, { "slug": "juvenile-polyposis-syndrome", "name": "Juvenil polyposyndrom", "diseases": [ { "mondoId": "MONDO:0008278", "name": "Juvenil polyposis/hereditär hemorragisk teleangiektasi-syndrom", "genes": 1, "inheritance": "autosomal-dominant", "description": "SMAD4-relaterad juvenil polyposis kombinerad med drag av hereditär hemorragisk teleangiektasi, såsom näsblod och onormala blodkärl i lungorna, hjärnan eller levern.", "management": "Utöver tarmkontroller rekommenderas screening för arteriovenösa missbildningar i lungorna och hjärnan.", "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 10 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0017380", "name": "Juvenil polyposyndrom", "genes": 2, "inheritance": "autosomal-dominant", "description": "Flera hamartomatösa (juvenila) polyper i mag-tarmkanalen med ökad risk för kolorektal cancer och magsäckscancer.", "management": "Regelbunden koloskopi och övre endoskopi, vanligtvis från tidiga tonår, med avlägsnande av polyper; släktingar kan erbjudas testning.", "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/juvenile-polyposis-syndrome" }, { "slug": "intellectual-disability", "name": "Intellektuell funktionsnedsättning", "diseases": [ { "mondoId": "MONDO:0001071", "name": "intellektuell funktionsnedsättning", "genes": 233, "inheritance": null, "description": null, "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/intellectual-disability" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-aortic-aneurysm", "name": "Abdominal aortic aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-aortic-aneurysm" }, { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-cardiac-septum-morphology", "name": "Abnormal cardiac septum morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology" }, { "slug": "abnormal-cardiovascular-system-physiology", "name": "Abnormal cardiovascular system physiology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-physiology" }, { "slug": "abnormal-left-ventricular-function", "name": "Abnormal left ventricular function", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-left-ventricular-function" }, { "slug": "abnormal-lip-morphology", "name": "Abnormal lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-lip-morphology" }, { "slug": "abnormal-epiphysis-morphology", "name": "Abnormal shape of end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology" }, { "slug": "abnormality-of-connective-tissue", "name": "Abnormality of connective tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-connective-tissue" }, { "slug": "abnormal-cerebral-vascular-morphology", "name": "Abnormality of the cerebral blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology" }, { "slug": "abnormality-iris-morphology", "name": "Abnormality of the iris", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-iris-morphology" }, { "slug": "abnormal-penis-morphology", "name": "Abnormality of the penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-penis-morphology" }, { "slug": "abnormal-pubic-bone-morphology", "name": "Abnormality of the pubic bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-pubic-bone-morphology" }, { "slug": "abnormal-rib-morphology", "name": "Abnormality of the ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-rib-morphology" }, { "slug": "abnormal-sternum-morphology", "name": "Abnormality of the sternum", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-sternum-morphology" }, { "slug": "abnormality-of-the-voice", "name": "Abnormality of the voice", "systems": [], "url": "https://dantelabs.com/traits/abnormality-of-the-voice" }, { "slug": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "adenomatous-colonic-polyposis", "name": "Adenomatous colonic polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/adenomatous-colonic-polyposis" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "anemic-pallor", "name": "Anemic pallor", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anemic-pallor" }, { "slug": "anorexia", "name": "Anorexia", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anorexia" }, { "slug": "aortic-regurgitation", "name": "Aortic regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aortic-regurgitation" }, { "slug": "bicuspid-aortic-valve", "name": "Aortic valve has two leaflets rather than three", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bicuspid-aortic-valve" }, { "slug": "arteriovenous-malformation", "name": "Arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arteriovenous-malformation" }, { "slug": "ascending-aortic-dissection", "name": "Ascending aortic dissection", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ascending-aortic-dissection" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "autism", "name": "Autism", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autism" }, { "slug": "back-pain", "name": "Back pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/back-pain" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "birth-length-less-than-3rd-percentile", "name": "Birth length less than 3rd percentile", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/birth-length-less-than-3rd-percentile" }, { "slug": "cerebral-hemorrhage", "name": "Bleeding in brain", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-hemorrhage" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "pulmonary-embolism", "name": "Blood clot in artery of lung", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-embolism" }, { "slug": "venous-thrombosis", "name": "Blood clot in vein", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/venous-thrombosis" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "dilatation-of-the-cerebral-artery", "name": "Brain aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery" }, { "slug": "breast-carcinoma", "name": "Breast cancer", "systems": [ "abnormality-of-the-breast", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/breast-carcinoma" }, { "slug": "broad-ribs", "name": "Broad ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-ribs" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "aortic-root-aneurysm", "name": "Bulge in wall of root of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-root-aneurysm" }, { "slug": "melanoma", "name": "Cancer of skin pigment cells", "systems": [ "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/melanoma" }, { "slug": "neoplasm-of-the-pancreas", "name": "Cancer of the pancreas", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "carotid-artery-dilatation", "name": "Carotid artery dilatation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/carotid-artery-dilatation" }, { "slug": "cerebral-arteriovenous-malformation", "name": "Cerebral arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-arteriovenous-malformation" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "keratosis-pilaris", "name": "Chicken skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/keratosis-pilaris" }, { "slug": "chronic-fatigue", "name": "Chronic fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chronic-fatigue" }, { "slug": "cleft-lip", "name": "Cleft lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-lip" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "clubbing", "name": "Clubbing of fingers and toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clubbing" }, { "slug": "pneumothorax", "name": "Collapsed lung", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pneumothorax" }, { "slug": "cavernous-hemangioma", "name": "Collection of dilated blood vessels that forms mass", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cavernous-hemangioma" }, { "slug": "colon-cancer", "name": "Colon cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/colon-cancer" }, { "slug": "cone-shaped-epiphysis", "name": "Cone-shaped end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cone-shaped-epiphysis" }, { "slug": "hemoptysis", "name": "Coughing up blood", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemoptysis" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "clinodactyly-of-the-5th-finger", "name": "Curvature of little finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger" }, { "slug": "cutis-marmorata", "name": "Cutis marmorata", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cutis-marmorata" }, { "slug": "cyanotic-episode", "name": "Cyanotic episode", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cyanotic-episode" }, { "slug": "hypogonadism", "name": "Decreased activity of gonads", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypogonadism" }, { "slug": "hypoplasia-of-the-maxilla", "name": "Decreased size of maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla" }, { "slug": "thin-vermilion-border", "name": "Decreased volume of lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thin-vermilion-border" }, { "slug": "deeply-set-eye", "name": "Deeply set eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/deeply-set-eye" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "hypovolemia", "name": "Depleted blood volume", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypovolemia" }, { "slug": "descending-aortic-dissection", "name": "Descending aortic dissection", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/descending-aortic-dissection" }, { "slug": "descending-thoracic-aorta-aneurysm", "name": "Descending thoracic aorta aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/descending-thoracic-aorta-aneurysm" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "duodenal-adenocarcinoma", "name": "Duodenal adenocarcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/duodenal-adenocarcinoma" }, { "slug": "duodenal-polyposis", "name": "Duodenal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/duodenal-polyposis" }, { "slug": "duodenal-stenosis", "name": "Duodenal stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/duodenal-stenosis" }, { "slug": "dural-ectasia", "name": "Dural ectasia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dural-ectasia" }, { "slug": "precocious-puberty", "name": "Early onset of puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/precocious-puberty" }, { "slug": "emg-abnormality", "name": "EMG abnormality", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/emg-abnormality" }, { "slug": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "esophageal-varix", "name": "Enlarged vein in esophagus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/esophageal-varix" }, { "slug": "enlarged-vertebral-pedicles", "name": "Enlarged vertebral pedicles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/enlarged-vertebral-pedicles" }, { "slug": "craniofacial-hyperostosis", "name": "Enlargement of craniofacial bones", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/craniofacial-hyperostosis" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "epispadias", "name": "Epispadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epispadias" }, { "slug": "lumbar-hyperlordosis", "name": "Excessive inward curvature of lower spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lumbar-hyperlordosis" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "extrahepatic-cholestasis", "name": "Extrahepatic cholestasis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/extrahepatic-cholestasis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "femoral-hernia", "name": "Femoral hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/femoral-hernia" }, { "slug": "fine-hair", "name": "Fine hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/fine-hair" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "pericardial-effusion", "name": "Fluid around heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/pericardial-effusion" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/edema" }, { "slug": "functional-intestinal-obstruction", "name": "Functional intestinal obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/functional-intestinal-obstruction" }, { "slug": "gastrointestinal-arteriovenous-malformation", "name": "Gastrointestinal arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-arteriovenous-malformation" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "generalized-muscle-hypertrophy", "name": "Generalized increase in muscle cell size", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-muscle-hypertrophy" }, { "slug": "gingival-cleft", "name": "Gingival cleft", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gingival-cleft" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "intestinal-polyposis", "name": "Growths in inner lining of intestine", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-polyposis" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hepatic-arteriovenous-malformation", "name": "Hepatic arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-arteriovenous-malformation" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "high-narrow-palate", "name": "High, narrow palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-narrow-palate" }, { "slug": "highly-arched-eyebrow", "name": "Highly arched eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/highly-arched-eyebrow" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "hypoplastic-iliac-wing", "name": "Hypoplastic iliac wing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplastic-iliac-wing" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "exocrine-pancreatic-insufficiency", "name": "Inability to properly digest food due to lack of pancreatic digestive enzymes", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/exocrine-pancreatic-insufficiency" }, { "slug": "pulmonary-arterial-hypertension", "name": "Increased blood pressure in blood vessels of lungs", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension" }, { "slug": "increased-level-of-l-fucose-in-urine", "name": "Increased level of L-fucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/increased-level-of-l-fucose-in-urine" }, { "slug": "skeletal-muscle-hypertrophy", "name": "Increased skeletal muscle cells", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/skeletal-muscle-hypertrophy" }, { "slug": "thickened-calvaria", "name": "Increased thickness of skull cap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thickened-calvaria" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intermittent-diarrhea", "name": "Intermittent diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intermittent-diarrhea" }, { "slug": "intestinal-pseudo-obstruction", "name": "Intestinal pseudo-obstruction", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intestinal-pseudo-obstruction" }, { "slug": "intussusception", "name": "Intussusception", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intussusception" }, { "slug": "ischemic-stroke", "name": "Ischemic stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ischemic-stroke" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "juvenile-colonic-polyposis", "name": "Juvenile colonic polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/juvenile-colonic-polyposis" }, { "slug": "juvenile-gastrointestinal-polyposis", "name": "Juvenile gastrointestinal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/juvenile-gastrointestinal-polyposis" }, { "slug": "large-iliac-wing", "name": "Large iliac wing", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/large-iliac-wing" }, { "slug": "laryngotracheal-stenosis", "name": "Laryngotracheal stenosis", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/laryngotracheal-stenosis" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "neoplasm-of-the-liver", "name": "Liver cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-liver" }, { "slug": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "long-eyelashes", "name": "Long eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/long-eyelashes" }, { "slug": "arachnodactyly", "name": "Long slender fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arachnodactyly" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "pancytopenia", "name": "Low blood cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pancytopenia" }, { "slug": "hypokalemia", "name": "Low blood potassium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypokalemia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "migraine", "name": "Migraine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/migraine" }, { "slug": "transient-ischemic-attack", "name": "Mini stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/transient-ischemic-attack" }, { "slug": "hyperactivity", "name": "More active than typical", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperactivity" }, { "slug": "mucoid-extracellular-matrix-accumulation", "name": "Mucoid extracellular matrix accumulation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mucoid-extracellular-matrix-accumulation" }, { "slug": "mucosal-telangiectasiae", "name": "Mucosal telangiectasiae", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/mucosal-telangiectasiae" }, { "slug": "multiple-gastric-polyps", "name": "Multiple gastric polyps", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-gastric-polyps" }, { "slug": "narrow-palpebral-fissure", "name": "Narrow eyelid opening", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/narrow-palpebral-fissure" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "blepharophimosis", "name": "Narrow opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blepharophimosis" }, { "slug": "coarctation-of-aorta", "name": "Narrowing of aorta", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/coarctation-of-aorta" }, { "slug": "aortic-valve-stenosis", "name": "Narrowing of aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/aortic-valve-stenosis" }, { "slug": "pulmonic-stenosis", "name": "Narrowing of pulmonic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pulmonic-stenosis" }, { "slug": "nausea-and-vomiting", "name": "Nausea and vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nausea-and-vomiting" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "unilateral-cleft-lip", "name": "One sided cleft upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unilateral-cleft-lip" }, { "slug": "ovarian-carcinoma", "name": "Ovarian carcinoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ovarian-carcinoma" }, { "slug": "overlapping-toe", "name": "Overlapping toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/overlapping-toe" }, { "slug": "pancreatic-adenocarcinoma", "name": "Pancreatic adenocarcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pancreatic-adenocarcinoma" }, { "slug": "paroxysmal-dyspnea", "name": "Paroxysmal dyspnea", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paroxysmal-dyspnea" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "peripheral-arterial-stenosis", "name": "Peripheral arterial stenosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-arterial-stenosis" }, { "slug": "peripheral-arteriovenous-fistula", "name": "Peripheral arteriovenous fistula", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-arteriovenous-fistula" }, { "slug": "peritoneal-abscess", "name": "Peritoneal abscess", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peritoneal-abscess" }, { "slug": "camptodactyly", "name": "Permanent flexion of the finger or toe", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/camptodactyly" }, { "slug": "coronary-artery-atherosclerosis", "name": "Plaque build-up in arteries supplying blood to heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis" }, { "slug": "poor-appetite", "name": "Poor appetite", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-appetite" }, { "slug": "portal-hypertension", "name": "Portal hypertension", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/portal-hypertension" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prominent-nasal-bridge", "name": "Prominent nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/prominent-nasal-bridge" }, { "slug": "psychosis", "name": "Psychosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/psychosis" }, { "slug": "pulmonary-arteriovenous-malformation", "name": "Pulmonary arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-arteriovenous-malformation" }, { "slug": "radial-deviation-of-finger", "name": "Radial deviation of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/radial-deviation-of-finger" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "hematochezia", "name": "Rectal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hematochezia" }, { "slug": "rectal-polyposis", "name": "Rectal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rectal-polyposis" }, { "slug": "rectal-prolapse", "name": "Rectum protrudes through anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rectal-prolapse" }, { "slug": "spontaneous-recurrent-epistaxis", "name": "Recurring nosebleed", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spontaneous-recurrent-epistaxis" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "retinal-telangiectasia", "name": "Retinal telangiectasia", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-telangiectasia" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cirrhosis" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "high-hypermetropia", "name": "Severe farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-hypermetropia" }, { "slug": "severe-short-stature", "name": "Severe short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-short-stature" }, { "slug": "short-finger", "name": "Short finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-finger" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-foot", "name": "Short foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-foot" }, { "slug": "short-long-bone", "name": "Short long bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-long-bone" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-palpebral-fissure", "name": "Short opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-palpebral-fissure" }, { "slug": "short-palm", "name": "Short palm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-palm" }, { "slug": "short-philtrum", "name": "Short philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-philtrum" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-toe", "name": "Short toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/short-toe" }, { "slug": "conjunctival-telangiectasia", "name": "Small dilated blood vessels near membrane covering front of eye and eyelids", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/conjunctival-telangiectasia" }, { "slug": "small-earlobe", "name": "Small earlobe", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-earlobe" }, { "slug": "microtia", "name": "Small ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/microtia" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "small-intestinal-polyposis", "name": "Small intestinal polyposis", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/small-intestinal-polyposis" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "specific-learning-disability", "name": "Specific learning disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/specific-learning-disability" }, { "slug": "speech-articulation-difficulties", "name": "Speech articulation difficulties", "systems": [ "abnormality-of-the-nervous-system", "abnormality-of-the-voice" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/speech-articulation-difficulties" }, { "slug": "telangiectasia", "name": "Spider veins", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/telangiectasia" }, { "slug": "nasal-mucosa-telangiectasia", "name": "Spider veins of mucosa of nose", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nasal-mucosa-telangiectasia" }, { "slug": "lip-telangiectasia", "name": "Spider veins of the lip", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lip-telangiectasia" }, { "slug": "tongue-telangiectasia", "name": "Spider veins of the tongue", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tongue-telangiectasia" }, { "slug": "sacral-dimple", "name": "Spinal dimple", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sacral-dimple" }, { "slug": "stiff-skin", "name": "Stiff skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stiff-skin" }, { "slug": "neoplasm-of-the-stomach", "name": "Stomach tumor", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-stomach" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "subarachnoid-hemorrhage", "name": "Subarachnoid hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage" }, { "slug": "submucous-cleft-hard-palate", "name": "Submucous cleft hard palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/submucous-cleft-hard-palate" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "tall-stature", "name": "Tall stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tall-stature" }, { "slug": "aortic-dissection", "name": "Tear in inner wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aortic-dissection" }, { "slug": "telangiectasia-of-the-skin", "name": "Telangiectasia of the skin", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/telangiectasia-of-the-skin" }, { "slug": "thick-eyebrow", "name": "Thick eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/thick-eyebrow" }, { "slug": "thickened-skin", "name": "Thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thickened-skin" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "external-genital-hypoplasia", "name": "Underdevelopment of external reproductive organs", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/external-genital-hypoplasia" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "velopharyngeal-insufficiency", "name": "Velopharyngeal incompetence", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/velopharyngeal-insufficiency" }, { "slug": "vertebral-fusion", "name": "Vertebral fusion", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/vertebral-fusion" }, { "slug": "visceral-angiomatosis", "name": "Visceral angiomatosis", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visceral-angiomatosis" }, { "slug": "2-3-toe-syndactyly", "name": "Webbed 2nd and 3rd toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/2-3-toe-syndactyly" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/weight-loss" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "acsl4", "symbol": "ACSL4", "name": "acyl-CoA synthetase long chain family member 4", "shared": 1, "url": "https://dantelabs.com/sv/genes/acsl4" }, { "slug": "adk", "symbol": "ADK", "name": "adenosine kinase", "shared": 1, "url": "https://dantelabs.com/sv/genes/adk" }, { "slug": "adnp", "symbol": "ADNP", "name": "activity dependent neuroprotector homeobox", "shared": 1, "url": "https://dantelabs.com/sv/genes/adnp" }, { "slug": "aff2", "symbol": "AFF2", "name": "ALF transcription elongation factor 2", "shared": 1, 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"exon", "number": 9 }, "url": "https://dantelabs.com/genes/smad4/variants/y353c" } ] } }