{ "url": "https://dantelabs.com/genes/palb2", "gene": { "slug": "palb2", "symbol": "PALB2", "name": "partner and localizer of BRCA2", "hgnc": "HGNC:26144", "summary": null, "location": "16p12.2", "locusType": "gene with protein product", "aliases": [ "FLJ21816", "FANCN" ], "previousSymbols": [], "ensemblId": "ENSG00000083093", "entrezId": 79728, "omim": [ "610355" ], "uniprot": [ "Q86YC2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 23603165, "end": 23641310, "strand": "-", "ensemblTranscript": "ENST00000261584.9", "refseqTranscript": "NM_024675.4", "ensemblProtein": "ENSP00000261584.4", "refseqProtein": "NP_078951.2", "exons": [ { "start": 23603165, "end": 23603669 }, { "start": 23607864, "end": 23608012 }, { "start": 23614004, "end": 23614091 }, { "start": 23621362, "end": 23621478 }, { "start": 23622969, "end": 23623130 }, { "start": 23624009, "end": 23624094 }, { "start": 23626236, "end": 23626397 }, { "start": 23629204, "end": 23629275 }, { "start": 23629640, "end": 23630469 }, { "start": 23634862, "end": 23636334 }, { "start": 23637850, "end": 23637952 }, { "start": 23638070, "end": 23638129 }, { "start": 23641110, "end": 23641310 } ], "cds": { "start": 23603459, "end": 23641157 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 23614488, "end": 23652631, "strand": "-" }, "neighbourhood": { "release": "116", "start": 23122238, "end": 24122237, "genes": [ { "symbol": "USP31", "ensemblId": "ENSG00000103404", "biotype": "protein_coding", "start": 23061406, "end": 23149466, "strand": "-", "slug": "usp31" }, { "symbol": "SCNN1G", "ensemblId": "ENSG00000166828", "biotype": "protein_coding", "start": 23182677, "end": 23216883, "strand": "+", "slug": "scnn1g" }, { "symbol": "SCNN1B", "ensemblId": "ENSG00000168447", "biotype": "protein_coding", "start": 23278231, "end": 23381299, "strand": "+", "slug": "scnn1b" }, { "symbol": "COG7", "ensemblId": "ENSG00000168434", "biotype": "protein_coding", "start": 23388493, "end": 23453210, "strand": "-", "slug": "cog7" }, { "symbol": "GGA2", "ensemblId": "ENSG00000103365", "biotype": "protein_coding", "start": 23462213, "end": 23521995, "strand": "-", "slug": "gga2" }, { "symbol": "EARS2", "ensemblId": "ENSG00000103356", "biotype": "protein_coding", "start": 23520754, "end": 23557731, "strand": "-", "slug": "ears2" }, { "symbol": "UBFD1", "ensemblId": "ENSG00000103353", "biotype": "protein_coding", "start": 23557557, "end": 23574394, "strand": "+", "slug": "ubfd1" }, { "symbol": "NDUFAB1", "ensemblId": "ENSG00000004779", "biotype": "protein_coding", "start": 23580952, "end": 23596328, "strand": "-", "slug": "ndufab1" }, { "symbol": "DCTN5", "ensemblId": "ENSG00000166847", "biotype": "protein_coding", "start": 23641380, "end": 23677472, "strand": "+", "slug": "dctn5" }, { "symbol": "PLK1", "ensemblId": "ENSG00000166851", "biotype": "protein_coding", "start": 23677656, "end": 23690372, "strand": "+", "slug": "plk1" }, { "symbol": "ERN2", "ensemblId": "ENSG00000134398", "biotype": "protein_coding", "start": 23688117, "end": 23713255, "strand": "-", "slug": "ern2" }, { "symbol": "CHP2", "ensemblId": "ENSG00000166869", "biotype": "protein_coding", "start": 23754618, "end": 23759058, "strand": "+", "slug": "chp2" }, { "symbol": "PRKCB", "ensemblId": "ENSG00000166501", "biotype": "protein_coding", "start": 23835939, "end": 24220611, "strand": "+", "slug": "prkcb" } ], "truncated": false }, "reports": [ { "slug": "dna-repair-disease", "name": "DNA Repair Disease", "diseases": [ { "mondoId": "MONDO:0021190", "name": "Dna Repair Disease", "genes": 43, "inheritance": "autosomal-recessive", "description": "A disease that has its basis in the disruption of DNA repair.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/conditions/dna-repair-disease" }, { "slug": "fanconi-anemia", "name": "Fanconi Anemia", "diseases": [ { "mondoId": "MONDO:0019391", "name": "Fanconi Anemia", "genes": 18, "inheritance": "autosomal-recessive", "description": "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.", "management": "Hematopoietic stem cell transplantation using FA-specific reduced-intensity conditioning; androgens (oxymetholone) as bridge therapy; cancer surveillance for head/neck and gynecological malignancies; gene therapy in clinical trials", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/conditions/fanconi-anemia" }, { "slug": "moderate-penetrance-breast-ovarian-cancer-genes", "name": "Breast and Ovarian Cancer Genes Beyond BRCA1/2", "diseases": [ { "mondoId": "MONDO:0016419", "name": "Hereditary breast cancer", "genes": 7, "inheritance": "autosomal-dominant", "description": "Inherited susceptibility to breast cancer caused by variants in one of several genes.", "management": "Earlier and more intensive breast screening, including MRI, may be recommended depending on the gene.", "evidence": { "gencc": [ "Ambry Genetics" ], "acmgSf": true, "inheritance": [ "autosomal-dominant" ], "actionability": 9 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/moderate-penetrance-breast-ovarian-cancer-genes" }, { "slug": "palb2-related-diseases", "name": "PALB2 related diseases", "diseases": [ { "mondoId": "MONDO:0012565", "name": "Fanconi Anemia Complementation Group N", "genes": 1, "inheritance": "autosomal-recessive", "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0013236", "name": "Pancreatic Cancer, Susceptibility To, 3", "genes": 1, "inheritance": "autosomal-dominant", "description": "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0700272", "name": "PALB2-related cancer predisposition", "genes": 1, "inheritance": "autosomal-dominant", "description": "PALB2 variants that raise the risk of breast cancer and, to a lesser degree, pancreatic and ovarian cancer.", "management": "Enhanced breast screening including MRI, with risk-reducing surgery discussed case by case.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/palb2-related-diseases" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "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-aortic-morphology", "name": "Abnormal aortic morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-aortic-morphology" }, { "slug": "abnormal-aortic-valve-morphology", "name": "Abnormal aortic valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-aortic-valve-morphology" }, { "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-carotid-artery-morphology", "name": "Abnormal carotid artery morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-carotid-artery-morphology" }, { "slug": "tracheoesophageal-fistula", "name": "Abnormal connection between trachea and esophagus", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tracheoesophageal-fistula" }, { "slug": "abnormal-fallopian-tube-morphology", "name": "Abnormal fallopian tube morphology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-fallopian-tube-morphology" }, { "slug": "abnormal-foot-morphology", "name": "Abnormal feet structure", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-foot-morphology" }, { "slug": "ectopic-kidney", "name": "Abnormal kidney location", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ectopic-kidney" }, { "slug": "abnormal-localization-of-kidney", "name": "Abnormal localisation of kidneys", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-localization-of-kidney" }, { "slug": "abnormal-morphology-of-ulna", "name": "Abnormal morphology of ulna", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-morphology-of-ulna" }, { "slug": "abnormal-preputium-morphology", "name": "Abnormal preputium morphology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-preputium-morphology" }, { "slug": "abnormal-nervous-system-morphology", "name": "Abnormal shape of nervous system", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-nervous-system-morphology" }, { "slug": "abnormal-skin-pigmentation", "name": "Abnormal skin pigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation" }, { "slug": "neoplasm", "name": "Abnormal tissue mass", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/neoplasm" }, { "slug": "abnormality-of-blood-and-blood-forming-tissues", "name": "Abnormality of blood and blood-forming tissues", "systems": [], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-blood-and-blood-forming-tissues" }, { "slug": "abnormality-of-chromosome-stability", "name": "Abnormality of chromosome stability", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-chromosome-stability" }, { "slug": "abnormality-of-the-eye", "name": "Abnormality of the eye", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-eye" }, { "slug": "abnormal-eyelid-morphology", "name": "Abnormality of the eyelid", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-eyelid-morphology" }, { "slug": "abnormality-of-the-hypothalamus-pituitary-axis", "name": "Abnormality of the hypothalamus-pituitary axis", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-hypothalamus-pituitary-axis" }, { "slug": "abnormality-of-the-liver", "name": "Abnormality of the liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-liver" }, { "slug": "abnormal-testis-morphology", "name": "Abnormality of the testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-testis-morphology" }, { "slug": "abnormal-femur-morphology", "name": "Abnormality of the thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-femur-morphology" }, { "slug": "abnormal-thumb-morphology", "name": "Abnormality of the thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-thumb-morphology" }, { "slug": "abnormality-of-the-upper-limb", "name": "Abnormality of the upper limb", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-upper-limb" }, { "slug": "abnormality-of-the-uterus", "name": "Abnormality of the uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-uterus" }, { "slug": "abnormality-of-vision", "name": "Abnormality of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-vision" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "abnormal-renal-morphology", "name": "Abnormally shaped kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-renal-morphology" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "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" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "anal-atresia", "name": "Absent anus", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anal-atresia" }, { "slug": "unilateral-renal-agenesis", "name": "Absent kidney on one side", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/unilateral-renal-agenesis" }, { "slug": "azoospermia", "name": "Absent sperm in semen", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/azoospermia" }, { "slug": "absent-testis", "name": "Absent testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/absent-testis" }, { "slug": "absent-thumb", "name": "Absent thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-thumb" }, { "slug": "aplasia-hypoplasia-of-fingers", "name": "Absent/small fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-fingers" }, { "slug": "aplasia-hypoplasia-of-the-iris", "name": "Absent/small iris", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-iris" }, { "slug": "renal-hypoplasia-aplasia", "name": "Absent/small kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-hypoplasia-aplasia" }, { "slug": "acute-myeloid-leukemia", "name": "Acute myeloid leukemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acute-myeloid-leukemia" }, { "slug": "almond-shaped-palpebral-fissure", "name": "Almond shaped eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/almond-shaped-palpebral-fissure" }, { "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": "anorexia", "name": "Anorexia", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anorexia" }, { "slug": "aplasia-hypoplasia-of-the-radius", "name": "Aplasia/Hypoplasia of the radius", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-radius" }, { "slug": "aplasia-hypoplasia-of-the-uvula", "name": "Aplasia/Hypoplasia of the uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uvula" }, { "slug": "aplastic-anemia", "name": "Aplastic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aplastic-anemia" }, { "slug": "arteriovenous-malformation", "name": "Arteriovenous malformation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arteriovenous-malformation" }, { "slug": "astigmatism", "name": "Astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/astigmatism" }, { "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": "cafe-au-lait-spot", "name": "Birthmark", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cafe-au-lait-spot" }, { "slug": "choanal-atresia", "name": "Blockage of the rear opening of the nasal cavity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/choanal-atresia" }, { "slug": "breast-carcinoma", "name": "Breast cancer", "systems": [ "abnormality-of-the-breast", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/breast-carcinoma" }, { "slug": "proptosis", "name": "Bulging eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proptosis" }, { "slug": "neuroblastoma", "name": "Cancer of early nerve cells", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neuroblastoma" }, { "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" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas" }, { "slug": "chromosomal-breakage-induced-by-crosslinking-agents", "name": "Chromosomal breakage induced by crosslinking agents", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chromosomal-breakage-induced-by-crosslinking-agents" }, { "slug": "chronic-fatigue", "name": "Chronic fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chronic-fatigue" }, { "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-of-toes", "name": "Clubbed toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/clubbing-of-toes" }, { "slug": "colon-cancer", "name": "Colon cancer", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/colon-cancer" }, { "slug": "cranial-nerve-paralysis", "name": "Cranial nerve paralysis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cranial-nerve-paralysis" }, { "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": "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": "decreased-total-leukocyte-count", "name": "Decreased blood leukocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "decreased-fertility-in-males", "name": "Decreased fertility in males", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-fertility-in-males" }, { "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": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "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-stenosis", "name": "Duodenal stenosis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/duodenal-stenosis" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "aganglionic-megacolon", "name": "Enlarged colon lacking nerve cells", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aganglionic-megacolon" }, { "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": "extrahepatic-cholestasis", "name": "Extrahepatic cholestasis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/extrahepatic-cholestasis" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "finger-syndactyly", "name": "Finger syndactyly", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/finger-syndactyly" }, { "slug": "triphalangeal-thumb", "name": "Finger-like thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/triphalangeal-thumb" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "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": "toe-syndactyly", "name": "Fused toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/toe-syndactyly" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "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": "postnatal-growth-retardation", "name": "Growth delay as children", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/postnatal-growth-retardation" }, { "slug": "hearing-abnormality", "name": "Hearing abnormality", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-abnormality" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "bicornuate-uterus", "name": "Heart shaped uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bicornuate-uterus" }, { "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-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hip-dislocation", "name": "Hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hip-dislocation" }, { "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": "horseshoe-kidney", "name": "Horseshoe kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/horseshoe-kidney" }, { "slug": "hydroureter", "name": "Hydroureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydroureter" }, { "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": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "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": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irregular-hyperpigmentation", "name": "Irregular hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/irregular-hyperpigmentation" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micrognathia" }, { "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": "dolichocephaly", "name": "Long, narrow head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dolichocephaly" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "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": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "meckel-diverticulum", "name": "Meckel diverticulum", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/meckel-diverticulum" }, { "slug": "medulloblastoma", "name": "Medulloblastoma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/medulloblastoma" }, { "slug": "multiple-cafe-au-lait-spots", "name": "Multiple birthmarks", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots" }, { "slug": "myelodysplasia", "name": "Myelodysplasia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myelodysplasia" }, { "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": "nephroblastoma", "name": "Nephroblastoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nephroblastoma" }, { "slug": "ovarian-neoplasm", "name": "Ovarian cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ovarian-neoplasm" }, { "slug": "ovarian-carcinoma", "name": "Ovarian carcinoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ovarian-carcinoma" }, { "slug": "pancreatic-adenocarcinoma", "name": "Pancreatic adenocarcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pancreatic-adenocarcinoma" }, { "slug": "hyperpigmentation-of-the-skin", "name": "Patchy darkened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin" }, { "slug": "hypopigmented-skin-patches", "name": "Patchy loss of skin color", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypopigmented-skin-patches" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "pelvic-kidney", "name": "Pelvic kidney", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pelvic-kidney" }, { "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": "poor-appetite", "name": "Poor appetite", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/poor-appetite" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "primary-peritoneal-carcinoma", "name": "Primary peritoneal carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/primary-peritoneal-carcinoma" }, { "slug": "prostate-cancer", "name": "Prostate cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prostate-cancer" }, { "slug": "pyridoxine-responsive-sideroblastic-anemia", "name": "Pyridoxine-responsive sideroblastic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pyridoxine-responsive-sideroblastic-anemia" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "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-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-thumb", "name": "Short thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-thumb" }, { "slug": "sloping-forehead", "name": "Sloping forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sloping-forehead" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "spina-bifida", "name": "Split spine", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spina-bifida" }, { "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": "tetralogy-of-fallot", "name": "Tetralogy of Fallot", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tetralogy-of-fallot" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/umbilical-hernia" }, { "slug": "hypoplasia-of-the-ulna", "name": "Underdeveloped inner large forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-ulna" }, { "slug": "hypoplasia-of-the-radius", "name": "Underdeveloped outer large forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoplasia-of-the-radius" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "upslanted-palpebral-fissure", "name": "Upward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/upslanted-palpebral-fissure" }, { "slug": "abnormality-of-the-urinary-system", "name": "Urinary tract abnormalities", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": 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