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], "truncated": false }, "reports": [ { "slug": "female-infertility", "name": "Weibliche Unfruchtbarkeit", "diseases": [ { "mondoId": "MONDO:0021124", "name": "Weibliche Unfruchtbarkeit", "genes": 37, "inheritance": null, "description": "Verminderte oder fehlende Fähigkeit einer Frau, schwanger zu werden.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/de/conditions/female-infertility" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-secondary-sexual-hair", "name": "Abnormality of secondary sexual hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-secondary-sexual-hair" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "aplasia-of-the-ovary", "name": "Absent ovary", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/aplasia-of-the-ovary" }, { "slug": "aplasia-hypoplasia-of-the-breasts", "name": "Absent/small breasts", "systems": [ "abnormality-of-the-breast" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-breasts" }, { "slug": "aplasia-hypoplasia-of-the-uterus", "name": "Absent/small uterus", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-uterus" }, { "slug": "ambiguous-genitalia", "name": "Ambiguous external genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ambiguous-genitalia" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "decreased-fertility", "name": "Decreased fertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-fertility" }, { "slug": "decreased-serum-estradiol", "name": "Decreased serum estradiol", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-serum-estradiol" }, { "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": "delayed-puberty", "name": "Delayed puberty", "systems": [ "abnormality-of-the-endocrine-system", "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-puberty" }, { "slug": "premature-ovarian-insufficiency", "name": "Early menopause", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/premature-ovarian-insufficiency" }, { "slug": "elevated-circulating-follicle-stimulating-hormone-level", "name": "Elevated circulating follicle stimulating hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-follicle-stimulating-hormone-level" }, { "slug": "elevated-circulating-luteinizing-hormone-level", "name": "Elevated circulating luteinizing hormone level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-luteinizing-hormone-level" }, { "slug": "female-infertility", "name": "Female infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/female-infertility" }, { "slug": "gonadal-dysgenesis", "name": "Gonadal dysgenesis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gonadal-dysgenesis" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "increased-circulating-gonadotropin-level", "name": "Increased circulating gonadotropin level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level" }, { "slug": "abnormality-of-metabolism-homeostasis", "name": "Laboratory abnormality", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis" }, { "slug": "arachnodactyly", "name": "Long slender fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/arachnodactyly" }, { "slug": "reduced-bone-mineral-density", "name": "Low solidness and mass of the bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-bone-mineral-density" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis-of-vertebrae", "name": "Osteoporosis of vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/osteoporosis-of-vertebrae" }, { "slug": "secondary-amenorrhea", "name": "Previous menstrual periods stop", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/secondary-amenorrhea" }, { "slug": "primary-amenorrhea", "name": "Primary amenorrhea", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/primary-amenorrhea" }, { "slug": "pulmonary-fibrosis", "name": "Pulmonary scarring", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/pulmonary-fibrosis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "sparse-pubic-hair", "name": "Sparse pubic hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sparse-pubic-hair" }, { "slug": "streak-ovary", "name": "Streak ovary", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/streak-ovary" } ], "related": [ { "slug": "ankrd31", "symbol": "ANKRD31", "name": "ankyrin repeat domain 31", "shared": 1, "url": "https://dantelabs.com/de/genes/ankrd31" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/de/genes/atm" }, { "slug": "bmp15", "symbol": "BMP15", "name": "bone morphogenetic protein 15", "shared": 1, "url": "https://dantelabs.com/de/genes/bmp15" }, { "slug": "bnc1", "symbol": "BNC1", "name": "basonuclin zinc finger protein 1", "shared": 1, "url": "https://dantelabs.com/de/genes/bnc1" }, { "slug": "clpp", "symbol": "CLPP", "name": "caseinolytic mitochondrial matrix peptidase proteolytic subunit", "shared": 1, "url": "https://dantelabs.com/de/genes/clpp" }, { "slug": "cyp19a1", "symbol": "CYP19A1", "name": "cytochrome P450 family 19 subfamily A member 1", "shared": 1, "url": "https://dantelabs.com/de/genes/cyp19a1" }, { "slug": "fancm", "symbol": "FANCM", "name": "FA complementation group M", "shared": 1, "url": "https://dantelabs.com/de/genes/fancm" }, { "slug": "figla", "symbol": "FIGLA", "name": "folliculogenesis specific bHLH transcription factor", "shared": 1, "url": "https://dantelabs.com/de/genes/figla" }, { "slug": "fmr1", "symbol": "FMR1", "name": "fragile X messenger ribonucleoprotein 1", "shared": 1, "url": "https://dantelabs.com/de/genes/fmr1" }, { "slug": "foxl2", "symbol": "FOXL2", "name": "forkhead box L2", "shared": 1, "url": "https://dantelabs.com/de/genes/foxl2" }, { "slug": "fshr", "symbol": "FSHR", "name": "follicle stimulating hormone receptor", "shared": 1, "url": "https://dantelabs.com/de/genes/fshr" }, { "slug": "galt", "symbol": "GALT", "name": "galactose-1-phosphate uridylyltransferase", "shared": 1, "url": "https://dantelabs.com/de/genes/galt" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }