{ "url": "https://dantelabs.com/sv/genes/ifih1", "gene": { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "hgnc": "HGNC:18873", "summary": null, "location": "2q24.2", "locusType": "gene with protein product", "aliases": [ "MDA-5", "Hlcd", "MDA5", "IDDM19" ], "previousSymbols": [], "ensemblId": "ENSG00000115267", "entrezId": 64135, "omim": [ "606951" ], "uniprot": [ "Q9BYX4" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 162267074, "end": 162318684, "strand": "-", "ensemblTranscript": "ENST00000649979.2", "refseqTranscript": "NM_022168.4", "ensemblProtein": "ENSP00000497271.1", "refseqProtein": "NP_071451.2", "exons": [ { "start": 162267074, "end": 162267379 }, { "start": 162267479, "end": 162267569 }, { "start": 162268087, "end": 162268277 }, { "start": 162272226, "end": 162272387 }, { "start": 162273795, "end": 162273944 }, { "start": 162276687, "end": 162276946 }, { "start": 162277415, "end": 162277693 }, { "start": 162278205, "end": 162278328 }, { "start": 162279996, "end": 162280112 }, { "start": 162281328, "end": 162281545 }, { "start": 162282366, "end": 162282576 }, { "start": 162288135, "end": 162288355 }, { "start": 162293564, "end": 162293668 }, { "start": 162306709, "end": 162306855 }, { "start": 162310765, "end": 162310933 }, { "start": 162317855, "end": 162318684 } ], "cds": { "start": 162267200, "end": 162318307 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 163123589, "end": 163175213, "strand": "-" }, "neighbourhood": { "release": "116", "start": 161792879, "end": 162792878, "genes": [ { "symbol": "SLC4A10", "ensemblId": "ENSG00000144290", "biotype": "protein_coding", "start": 161424332, "end": 161985329, "strand": "+", "slug": "slc4a10" }, { "symbol": "DPP4", "ensemblId": "ENSG00000197635", "biotype": "protein_coding", "start": 161992243, "end": 162074639, "strand": "-", "slug": "dpp4" }, { "symbol": "GCG", "ensemblId": "ENSG00000115263", "biotype": "protein_coding", "start": 162142877, "end": 162152404, "strand": "-", "slug": "gcg" }, { "symbol": "FAP", "ensemblId": "ENSG00000078098", "biotype": "protein_coding", "start": 162170684, "end": 162245151, "strand": "-", "slug": "fap" }, { "symbol": "GCA", "ensemblId": "ENSG00000115271", "biotype": "protein_coding", "start": 162318839, "end": 162388536, "strand": "+", "slug": "gca" }, { "symbol": "KCNH7", "ensemblId": "ENSG00000184611", "biotype": "protein_coding", "start": 162365721, "end": 162838791, "strand": "-", "slug": "kcnh7" } ], "truncated": false }, "reports": [ { "slug": "aicardi-goutieres-syndrome", "name": "Aicardi-Goutieres syndrom", "diseases": [ { "mondoId": "MONDO:0700262", "name": "IFIH1-relaterad interferonopati av typ 1", "genes": 1, "inheritance": "autosomal-dominant", "description": "IFIH1-varianter med gain-of-function som orsakar Aicardi-Goutières syndrom eller Singleton-Merten syndrom.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018866", "name": "Aicardi-Goutieres syndrom", "genes": 8, "inheritance": "autosomal-recessive", "description": "Aicardi-Goutieres syndrom (AGS) är en ärftlig, subakut encefalopati som kännetecknas av kombinationen av förkalkningar i basala ganglier, leukodystrofi och lymfocytos i cerebrospinalvätskan (CSF).", "management": null, "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/aicardi-goutieres-syndrome" }, { "slug": "osteogenesis-imperfecta", "name": "Osteogenesis imperfecta", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Osteogenesis imperfecta", "genes": 34, "inheritance": null, "description": "En grupp ärftliga bindvävssjukdomar som orsakar sköra ben som lätt bryts, ofta med blå sklera, hörselnedsättning och tandproblem.", "management": "Cykliska intravenösa bisfosfonater (pamidronat, zoledronat); ortopedisk märgspikning av långa ben; fysioterapi; denosumab (används kliniskt vid OI hos barn); romosozumab (under utveckling); hörselkontroller; tandvård vid dentinogenesis imperfecta", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/osteogenesis-imperfecta" }, { "slug": "rare-monogenic-autoinflammatory-diseases", "name": "Sällsynta monogena autoinflammatoriska sjukdomar", "diseases": [ { "mondoId": "MONDO:0957018", "name": "PTPN2-relaterad autoinflammation och autoimmunitet", "genes": 22, "inheritance": "autosomal-dominant", "description": "Inflammatorisk och autoimmun sjukdom med tidig debut, inklusive kolit och artrit, orsakad av varianter i PTPN2.", "management": null, "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/rare-monogenic-autoinflammatory-diseases" }, { "slug": "type-1-interferonopathies", "name": "Typ I-interferonopatier", "diseases": [ { "mondoId": "MONDO:0024535", "name": "Singleton-Merten-syndrom 1", "genes": 1, "inheritance": "autosomal-dominant", "description": "Tandavvikelser, förkalkning av aorta och hjärtklaffar samt bentförändringar orsakade av gain-of-function-varianter i IFIH1.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/type-1-interferonopathies" }, { "slug": "immunodeficiency-disease", "name": "Andra medfödda immunbristsjukdomar", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Medfödd immunbrist", "genes": 114, "inheritance": null, "description": "Ärftliga sjukdomar i immunsystemet orsakade av förändringar i enskilda gener, som påverkar hur kroppen bekämpar infektioner eller reglerar inflammation.", "management": null, "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/immunodeficiency-disease" }, { "slug": "leukodystrophy", "name": "Andra ärftliga leukodystrofier", "diseases": [ { "mondoId": "MONDO:0019046", "name": "Leukodystrofi (andra och ej specificerade typer)", "genes": 80, "inheritance": null, "description": "Ärftliga tillstånd som skadar eller förhindrar den normala bildningen av myelin, den vita substansen i hjärnan och ryggmärgen. Olika typer följer autosomalt recessiv, autosomalt dominant eller X-kopplad nedärvning beroende på vilken gen som är inblandad.", "management": "Att känna till den specifika genetiska orsaken kan avsluta en diagnostisk sökning, vägleda stödjande vård och uppföljning, visa om en specifik behandling finns och göra det möjligt att testa släktingar.", "evidence": { "gencc": [ "G2P", "Illumina", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/leukodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "cerebral-calcification", "name": "Abnormal deposits of calcium in the brain", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebral-calcification" }, { "slug": "gait-disturbance", "name": "Abnormal gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gait-disturbance" }, { "slug": "abnormal-pyramidal-sign", "name": "Abnormal pyramidal sign", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-pyramidal-sign" }, { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "abnormality-of-eye-movement", "name": "Abnormality of eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-eye-movement" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "absent-speech", "name": "Absent speech development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/absent-speech" }, { "slug": "aortic-arch-calcification", "name": "Aortic arch calcification", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/aortic-arch-calcification" }, { "slug": "aortic-valve-calcification", "name": "Aortic valve calcification", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/aortic-valve-calcification" }, { "slug": "arrhinencephaly", "name": "Arrhinencephaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/arrhinencephaly" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "plagiocephaly", "name": "Asymmetry of the posterior head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/plagiocephaly" }, { "slug": "atrophic-gastritis", "name": "Atrophic gastritis", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atrophic-gastritis" }, { "slug": "autoimmunity", "name": "Autoimmunity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autoimmunity" }, { "slug": "atopic-dermatitis", "name": "Baby eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/atopic-dermatitis" }, { "slug": "basal-ganglia-calcification", "name": "Basal ganglia calcification", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/basal-ganglia-calcification" }, { "slug": "convex-nasal-ridge", "name": "Beaked nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/convex-nasal-ridge" }, { "slug": "bloody-diarrhea", "name": "Bloody diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bloody-diarrhea" }, { "slug": "brain-atrophy", "name": "Brain degeneration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brain-atrophy" }, { "slug": "osteolytic-defects-of-the-phalanges-of-the-hand", "name": "Breakdown of small bones of fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteolytic-defects-of-the-phalanges-of-the-hand" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "aortic-aneurysm", "name": "Bulge in wall of large artery that carries blood away from heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/aortic-aneurysm" }, { "slug": "calcification-of-the-aorta", "name": "Calcification of the aorta", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/calcification-of-the-aorta" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "porencephalic-cyst", "name": "Cavity within brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/porencephalic-cyst" }, { "slug": "chilblains", "name": "Chilblains", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chilblains" }, { "slug": "chronic-csf-lymphocytosis", "name": "Chronic CSF lymphocytosis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-csf-lymphocytosis" }, { "slug": "chronic-lymphatic-leukemia", "name": "Chronic lymphatic leukemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/chronic-lymphatic-leukemia" }, { "slug": "eyelid-coloboma", "name": "Cleft eyelid", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eyelid-coloboma" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/myopia" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "coxa-valga", "name": "Coxa valga", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/coxa-valga" }, { "slug": "cutis-marmorata", "name": "Cutis marmorata", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutis-marmorata" }, { "slug": "decreased-total-lymphocyte-count", "name": "Decreased blood lymphocyte number", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count" }, { "slug": "decreased-body-weight", "name": "Decreased body weight", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/decreased-body-weight" }, { "slug": "decreased-circulating-igg3-concentration", "name": "Decreased circulating IgG3 concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-igg3-concentration" }, { "slug": "short-dental-root", "name": "Decreased length of dental roots", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-dental-root" }, { "slug": "hypoplasia-of-the-maxilla", "name": "Decreased size of maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla" }, { "slug": "hypoplasia-of-the-tooth-germ", "name": "Decreased size of tooth bud", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-tooth-germ" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "degeneration-of-the-striatum", "name": "Degeneration of the striatum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/degeneration-of-the-striatum" }, { "slug": "delayed-myelination", "name": "Delayed myelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-myelination" }, { "slug": "demyelinating-peripheral-neuropathy", "name": "Demyelinating peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/demyelinating-peripheral-neuropathy" }, { "slug": "carious-teeth", "name": "Dental cavities", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/carious-teeth" }, { "slug": "onycholysis", "name": "Detachment of nail", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/onycholysis" }, { "slug": "developmental-glaucoma", "name": "Developmental glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/developmental-glaucoma" }, { "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": "occasional", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "increased-circulating-ferritin-concentration", "name": "Elevated serum ferritin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-circulating-ferritin-concentration" }, { "slug": "enchondroma", "name": "Enchondroma", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/enchondroma" }, { "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": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "recurrent-fever", "name": "Episodic fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fever" }, { "slug": "expanded-metacarpals-with-widened-medullary-cavities", "name": "Expanded metacarpals with widened medullary cavities", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/expanded-metacarpals-with-widened-medullary-cavities" }, { "slug": "expanded-metatarsals-with-widened-medullary-cavities", "name": "Expanded metatarsals with widened medullary cavities", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/expanded-metatarsals-with-widened-medullary-cavities" }, { "slug": "expanded-phalanges-with-widened-medullary-cavities", "name": "Expanded phalanges with widened medullary cavities", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/expanded-phalanges-with-widened-medullary-cavities" }, { "slug": "extrapyramidal-muscular-rigidity", "name": "Extrapyramidal muscular rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/extrapyramidal-muscular-rigidity" }, { "slug": "eruption-failure", "name": "Failure of eruption of tooth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/eruption-failure" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "pericardial-effusion", "name": "Fluid around heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pericardial-effusion" }, { "slug": "pleural-effusion", "name": "Fluid around lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pleural-effusion" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "generalized-lymphadenopathy", "name": "Generalized swelling of lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-lymphadenopathy" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "ground-glass-opacification", "name": "Ground-glass opacification", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ground-glass-opacification" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "high-anterior-hairline", "name": "High frontal hairline", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-anterior-hairline" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "pes-cavus", "name": "High-arched foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/pes-cavus" }, { "slug": "hip-dislocation", "name": "Hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hip-dislocation" }, { "slug": "urticaria", "name": "Hives", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/urticaria" }, { "slug": "hoarse-voice", "name": "Hoarse voice", "systems": [ "abnormality-of-the-voice" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hoarse-voice" }, { "slug": "hypoplastic-distal-radial-epiphyses", "name": "Hypoplastic distal radial epiphyses", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplastic-distal-radial-epiphyses" }, { "slug": "increased-circulating-immunoglobulin-concentration", "name": "Increased antibody level in blood", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-circulating-immunoglobulin-concentration" }, { "slug": "increased-circulating-igg3-concentration", "name": "Increased circulating IgG3 concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-igg3-concentration" }, { "slug": "increased-circulating-interferon-gamma-concentration", "name": "Increased circulating interferon-gamma concentration", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-interferon-gamma-concentration" }, { "slug": "increased-csf-interferon-alpha", "name": "Increased CSF interferon alpha", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-csf-interferon-alpha" }, { "slug": "limb-hypertonia", "name": "Increased muscle tone of arm or leg", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/limb-hypertonia" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "thickened-calvaria", "name": "Increased thickness of skull cap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thickened-calvaria" }, { "slug": "vasculitis", "name": "Inflammation of blood vessel", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vasculitis" }, { "slug": "panniculitis", "name": "Inflammation of fat tissue", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/panniculitis" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intracerebral-periventricular-calcifications", "name": "Intracerebral periventricular calcifications", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intracerebral-periventricular-calcifications" }, { "slug": "spasticity", "name": "Involuntary muscle stiffness, contraction, or spasm", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spasticity" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "profound-intellectual-disability", "name": "IQ less than 20", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/profound-intellectual-disability" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "joint-subluxation", "name": "Joint subluxation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/joint-subluxation" }, { "slug": "genu-valgum", "name": "Knock knees", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/genu-valgum" }, { "slug": "leukodystrophy", "name": "Leukodystrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/leukodystrophy" }, { "slug": "hepatitis", "name": "Liver inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatitis" }, { "slug": "developmental-regression", "name": "Loss of developmental milestones", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/developmental-regression" }, { "slug": "lipoatrophy", "name": "Loss of fat tissue in localized area", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/lipoatrophy" }, { "slug": "loss-of-speech", "name": "Loss of speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/loss-of-speech" }, { "slug": "pancytopenia", "name": "Low blood cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancytopenia" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "low-set-ears", "name": "Low-set ears", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-set-ears" }, { "slug": "lower-limb-spasticity", "name": "Lower limb spasticity", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lower-limb-spasticity" }, { "slug": "mitral-valve-calcification", "name": "Mitral valve calcification", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/mitral-valve-calcification" }, { "slug": "moyamoya-phenomenon", "name": "Moyamoya phenomenon", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/moyamoya-phenomenon" }, { "slug": "multifocal-cerebral-white-matter-abnormalities", "name": "Multifocal cerebral white matter abnormalities", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/multifocal-cerebral-white-matter-abnormalities" }, { "slug": "multiple-joint-contractures", "name": "Multiple joint contractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multiple-joint-contractures" }, { "slug": "muscle-fiber-atrophy", "name": "Muscle fiber degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-fiber-atrophy" }, { "slug": "myositis", "name": "Muscle inflammation", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/myositis" }, { "slug": "muscle-stiffness", "name": "Muscle stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/muscle-stiffness" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "aortic-valve-stenosis", "name": "Narrowing of aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/aortic-valve-stenosis" }, { "slug": "subvalvular-aortic-stenosis", "name": "Narrowing of blood vessel below aortic heart valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/subvalvular-aortic-stenosis" }, { "slug": "neonatal-alloimmune-thrombocytopenia", "name": "Neonatal alloimmune thrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-alloimmune-thrombocytopenia" }, { "slug": "nephrotic-syndrome", "name": "Nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephrotic-syndrome" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "tetraplegia", "name": "Paralysis of all four limbs", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tetraplegia" }, { "slug": "hemiplegia-hemiparesis", "name": "Paralysis or weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis" }, { "slug": "hip-subluxation", "name": "Partial hip dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hip-subluxation" }, { "slug": "acrocyanosis", "name": "Persistent blue color of hands or feet", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/acrocyanosis" }, { "slug": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "poor-head-control", "name": "Poor head control", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/poor-head-control" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "raynaud-phenomenon", "name": "Raynaud phenomenon", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/raynaud-phenomenon" }, { "slug": "hematochezia", "name": "Rectal 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/hematochezia" }, { "slug": "recurrent-lower-respiratory-tract-infections", "name": "Recurrent chest infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/recurrent-lower-respiratory-tract-infections" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "recurrent-viral-pneumonia", "name": "Recurrent viral pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-viral-pneumonia" }, { "slug": "recurrent-viral-upper-respiratory-tract-infections", "name": "Recurrent viral upper respiratory tract infections", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-viral-upper-respiratory-tract-infections" }, { "slug": "respiratory-failure", "name": "Respiratory failure", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/respiratory-failure" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "shallow-acetabular-fossae", "name": "Shallow acetabular fossae", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/shallow-acetabular-fossae" }, { "slug": "micropenis", "name": "Short penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/micropenis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skin-rash" }, { "slug": "primary-microcephaly", "name": "Small head present at birth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/primary-microcephaly" }, { "slug": "smooth-philtrum", "name": "Smooth philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/smooth-philtrum" }, { "slug": "spastic-paraparesis", "name": "Spastic paraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-paraparesis" }, { "slug": "spastic-tetraparesis", "name": "Spastic tetraparesis", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/spastic-tetraparesis" }, { "slug": "spastic-tetraplegia", "name": "Spastic tetraplegia", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spastic-tetraplegia" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertonia" }, { "slug": "tendon-rupture", "name": "Tendon rupture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/tendon-rupture" }, { "slug": "tetraparesis", "name": "Tetraparesis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tetraparesis" }, { "slug": "thin-upper-lip-vermilion", "name": "Thin red part of the upper lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-upper-lip-vermilion" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" }, { "slug": "hypoplasia-of-the-corpus-callosum", "name": "Underdevelopment of part of brain called corpus callosum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum" }, { "slug": "unexplained-fevers", "name": "Unexplained fevers", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unexplained-fevers" }, { "slug": "ventriculomegaly", "name": "Ventriculomegaly", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventriculomegaly" }, { "slug": "hematemesis", "name": "Vomiting blood", "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/hematemesis" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/waddling-gait" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 4, "url": "https://dantelabs.com/sv/genes/adar" }, { "slug": "rnaseh2a", "symbol": "RNASEH2A", "name": "ribonuclease H2 subunit A", "shared": 4, "url": "https://dantelabs.com/sv/genes/rnaseh2a" }, { "slug": "rnaseh2b", "symbol": "RNASEH2B", "name": "ribonuclease H2 subunit B", "shared": 4, "url": "https://dantelabs.com/sv/genes/rnaseh2b" }, { "slug": "rnaseh2c", "symbol": "RNASEH2C", "name": "ribonuclease H2 subunit C", "shared": 4, "url": "https://dantelabs.com/sv/genes/rnaseh2c" }, { "slug": "rnu7-1", "symbol": "RNU7-1", "name": "RNA, U7 small nuclear 1", "shared": 4, "url": "https://dantelabs.com/sv/genes/rnu7-1" }, { "slug": "samhd1", "symbol": "SAMHD1", "name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1", "shared": 4, "url": "https://dantelabs.com/sv/genes/samhd1" }, { "slug": "trex1", "symbol": "TREX1", "name": "three prime repair exonuclease 1", "shared": 4, "url": "https://dantelabs.com/sv/genes/trex1" }, { "slug": "nbas", "symbol": "NBAS", "name": "NBAS subunit of NRZ tethering complex", "shared": 2, "url": "https://dantelabs.com/sv/genes/nbas" }, { "slug": "polr3a", "symbol": "POLR3A", "name": "RNA polymerase III subunit A", "shared": 2, "url": "https://dantelabs.com/sv/genes/polr3a" }, { "slug": "rigi", "symbol": "RIGI", "name": "RNA sensor RIG-I", "shared": 2, "url": "https://dantelabs.com/sv/genes/rigi" }, { "slug": "skic2", "symbol": "SKIC2", "name": "SKI2 subunit of superkiller complex", "shared": 2, "url": "https://dantelabs.com/sv/genes/skic2" }, { "slug": "skic3", "symbol": "SKIC3", "name": "SKI3 subunit of superkiller complex", "shared": 2, "url": "https://dantelabs.com/sv/genes/skic3" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }