{ "url": "https://dantelabs.com/el/genes/prkar1a", "gene": { "slug": "prkar1a", "symbol": "PRKAR1A", "name": "protein kinase cAMP-dependent type I regulatory subunit alpha", "hgnc": "HGNC:9388", "summary": null, "location": "17q24.2", "locusType": "gene with protein product", "aliases": [ "CNC1" ], "previousSymbols": [ "PRKAR1", "TSE1", "PKR1", "Prkar1alpha" ], "ensemblId": "ENSG00000108946", "entrezId": 5573, "omim": [ "188830" ], "uniprot": [ "P10644" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 68512430, "end": 68533431, "strand": "+", "ensemblTranscript": "ENST00000589228.6", "refseqTranscript": "NM_002734.5", "ensemblProtein": "ENSP00000464977.2", "refseqProtein": "NP_002725.1", "exons": [ { "start": 68512430, "end": 68512548 }, { "start": 68515394, "end": 68515576 }, { "start": 68522756, "end": 68522926 }, { "start": 68523725, "end": 68523816 }, { "start": 68524016, "end": 68524077 }, { "start": 68524912, "end": 68524958 }, { "start": 68525754, "end": 68525912 }, { "start": 68527840, "end": 68527900 }, { "start": 68528870, "end": 68528991 }, { "start": 68529920, "end": 68530001 }, { "start": 68530277, "end": 68533431 } ], "cds": { "start": 68515400, "end": 68530449 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 66507921, "end": 66547460, "strand": "+" }, "neighbourhood": { "release": "116", "start": 68022931, "end": 69022930, "genes": [ { "symbol": "KPNA2", "ensemblId": "ENSG00000182481", "biotype": "protein_coding", "start": 68035517, "end": 68047364, "strand": "+", "slug": "kpna2" }, { "symbol": "AMZ2", "ensemblId": "ENSG00000196704", "biotype": "protein_coding", "start": 68205431, "end": 68258828, "strand": "+", "slug": "amz2" }, { "symbol": "ARSG", "ensemblId": "ENSG00000141337", "biotype": "protein_coding", "start": 68259170, "end": 68422731, "strand": "+", "slug": "arsg" }, { "symbol": "SLC16A6", "ensemblId": "ENSG00000108932", "biotype": "protein_coding", "start": 68267026, "end": 68291267, "strand": "-", "slug": "slc16a6" }, { "symbol": "WIPI1", "ensemblId": "ENSG00000070540", "biotype": "protein_coding", "start": 68420948, "end": 68457563, "strand": "-", "slug": "wipi1" }, { "symbol": "FAM20A", "ensemblId": "ENSG00000108950", "biotype": "protein_coding", "start": 68535113, "end": 68601407, "strand": "-", "slug": "fam20a" }, { "symbol": "ABCA8", "ensemblId": "ENSG00000141338", "biotype": "protein_coding", "start": 68866052, "end": 68955470, "strand": "-", "slug": "abca8" }, { "symbol": "ABCA9", "ensemblId": "ENSG00000154258", "biotype": "protein_coding", "start": 68974488, "end": 69061087, "strand": "-", "slug": "abca9" } ], "truncated": false }, "reports": [ { "slug": "carney-complex-hereditary-adrenal-cushing-syndrome", "name": "Σύνδρομο Carney & Κληρονομικό επινεφριδιακό σύνδρομο Cushing", "diseases": [ { "mondoId": "MONDO:0015285", "name": "Σύνδρομο Carney", "genes": 1, "inheritance": "autosomal-dominant", "description": "Σύνδρομο πολλαπλής νεοπλασίας με κηλιδωτή χρώση του δέρματος, μυξώματα καρδιάς και δέρματος, και ενδοκρινικούς όγκους των επινεφριδίων, της υπophysis, του θυρεοειδούς και των όρχεων.", "management": "Τακτικό υπερηχογράφημα καρδιάς για έγκαιρη ανίχνευση μυξωμάτων, καθώς και ενδοκρινική και όρχεως παρακολούθηση, και έλεγχος των συγγενών.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ], "actionability": 12 }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0015999", "name": "Πρωτοπαθής χρωστική οζώδης νόσος του επινεφριδιακού φλοιού", "genes": 3, "inheritance": "autosomal-dominant", "description": "Μικροί χρωστικοί οζίδια των επινεφριδίων που παράγουν κορτιζόλη ανεξάρτητα από την ACTH, προκαλώντας σύνδρομο Cushing, είτε μόνα τους είτε ως μέρος του συνδρόμου Carney.", "management": "Βιοχημικός έλεγχος για περίσσεια κορτιζόλης επιτρέπει την έγκαιρη αναγνώριση και αντιμετώπιση του συνδρόμου Cushing.", "evidence": { "gencc": [ "Genomics England PanelApp", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/carney-complex-hereditary-adrenal-cushing-syndrome" }, { "slug": "pseudohypoparathyroidism-gnas-inactivation-disorders", "name": "Ψευδοϋποπαραθυρεοειδισμός και διαταραχές απενεργοποίησης του GNAS", "diseases": [ { "mondoId": "MONDO:0019797", "name": "Ακροδυσοστόωση", "genes": 2, "inheritance": "autosomal-dominant", "description": "Σκελετική πάθηση με κοντά χέρια και πόδια και διαφορές στα χαρακτηριστικά του προσώπου, που μερικές φορές συνοδεύεται από αντίσταση στις ορμόνες και οφείλεται σε μεταβολές στα PRKAR1A ή PDE4D.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/el/conditions/pseudohypoparathyroidism-gnas-inactivation-disorders" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-obesity", "name": "Abdominal obesity", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abdominal-obesity" }, { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormal-circulating-dehydroepiandrosterone-concentration", "name": "Abnormal circulating dehydroepiandrosterone concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-dehydroepiandrosterone-concentration" }, { "slug": "abnormal-female-external-genitalia-morphology", "name": "Abnormal female external genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-female-external-genitalia-morphology" }, { "slug": "abnormal-hard-palate-morphology", "name": "Abnormal hard palate morphology", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-hard-palate-morphology" }, { "slug": "abnormal-morphology-of-female-internal-genitalia", "name": "Abnormal morphology of female internal genitalia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-morphology-of-female-internal-genitalia" }, { "slug": "abnormal-morphology-of-the-radius", "name": "Abnormal morphology of the radius", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-morphology-of-the-radius" }, { "slug": "abnormal-morphology-of-ulna", "name": "Abnormal morphology of ulna", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-morphology-of-ulna" }, { "slug": "abnormal-metacarpal-morphology", "name": "Abnormal shape of long bones of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-metacarpal-morphology" }, { "slug": "abnormal-diaphysis-morphology", "name": "Abnormal shape of shaft of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-diaphysis-morphology" }, { "slug": "abnormal-skin-pigmentation", "name": "Abnormal skin pigmentation", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation" }, { "slug": "abnormal-sperm-motility", "name": "Abnormal sperm motility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-sperm-motility" }, { "slug": "metrorrhagia", "name": "Abnormal uterus bleeding", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/metrorrhagia" }, { "slug": "abnormal-vertebral-body-morphology", "name": "Abnormal vertebral body morphology", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-vertebral-body-morphology" }, { "slug": "abnormality-of-immune-system-physiology", "name": "Abnormality of immune system physiology", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-immune-system-physiology" }, { "slug": "abnormality-of-reproductive-system-physiology", "name": "Abnormality of reproductive system physiology", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-reproductive-system-physiology" }, { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "abnormal-femur-morphology", "name": "Abnormality of the thighbone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-femur-morphology" }, { "slug": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "slug": "unilateral-renal-agenesis", "name": "Absent kidney on one side", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unilateral-renal-agenesis" }, { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ascites" }, { "slug": "acral-overgrowth", "name": "Acral overgrowth", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/acral-overgrowth" }, { "slug": "addictive-alcohol-use", "name": "Addictive alcohol use", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/addictive-alcohol-use" }, { "slug": "adrenocortical-carcinoma", "name": "Adrenocortical carcinoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/adrenocortical-carcinoma" }, { "slug": "adrenocorticotropic-hormone-deficiency", "name": "Adrenocorticotropic hormone deficiency", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/adrenocorticotropic-hormone-deficiency" }, { "slug": "accelerated-skeletal-maturation", "name": "Advanced bone age", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation" }, { "slug": "agitation", "name": "Agitation", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/agitation" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "slug": "anorexia", "name": "Anorexia", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anorexia" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "atypical-nevi-in-non-sun-exposed-areas", "name": "Atypical nevi in non-sun exposed areas", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-nevi-in-non-sun-exposed-areas" }, { "slug": "bacterial-endocarditis", "name": "Bacterial endocarditis", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bacterial-endocarditis" }, { "slug": "dental-malocclusion", "name": "Bad bite", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/dental-malocclusion" }, { "slug": "melanocytic-nevus", "name": "Beauty mark", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/melanocytic-nevus" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "gingival-bleeding", "name": "Bleeding gums", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gingival-bleeding" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "purpura", "name": "Blood spots", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/purpura" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "blue-irides", "name": "Blue eyes", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/blue-irides" }, { "slug": "blue-nevus", "name": "Blue nevus", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blue-nevus" }, { "slug": "bone-marrow-hypercellularity", "name": "Bone marrow hypercellularity", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bone-marrow-hypercellularity" }, { "slug": "bone-pain", "name": "Bone pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bone-pain" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "dilatation-of-the-cerebral-artery", "name": "Brain aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/dilatation-of-the-cerebral-artery" }, { "slug": "neoplasm-of-the-breast", "name": "Breast tumor", "systems": [ "abnormality-of-the-breast", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-breast" }, { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "brachycephaly", "name": "Broad head shape", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/brachycephaly" }, { "slug": "broad-nasal-tip", "name": "Broad nasal tip", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/broad-nasal-tip" }, { "slug": "broad-palm", "name": "Broad palm", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/broad-palm" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "dorsocervical-fat-pad", "name": "Buffalo hump", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dorsocervical-fat-pad" }, { "slug": "emotional-lability", "name": "Can't control feelings", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/emotional-lability" }, { "slug": "neoplasm-of-the-pancreas", "name": "Cancer of the pancreas", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "cardiac-myxoma", "name": "Cardiac myxoma", "systems": [ "abnormality-of-the-cardiovascular-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cardiac-myxoma" }, { "slug": "chest-pain", "name": "Chest pain", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/chest-pain" }, { "slug": "chronic-infection", "name": "Chronic infection", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-infection" }, { "slug": "cone-shaped-epiphysis", "name": "Cone-shaped end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cone-shaped-epiphysis" }, { "slug": "cone-shaped-epiphyses-of-the-phalanges-of-the-hand", "name": "Cone-shaped end part of finger bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cone-shaped-epiphyses-of-the-phalanges-of-the-hand" }, { "slug": "cone-shaped-metacarpal-epiphyses", "name": "Cone-shaped end part of long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cone-shaped-metacarpal-epiphyses" }, { "slug": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "coxa-valga", "name": "Coxa valga", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/coxa-valga" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "cutaneous-myxoma", "name": "Cutaneous myxoma", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cutaneous-myxoma" }, { "slug": "lip-hyperpigmentation", "name": "Darkening of skin of the lips", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lip-hyperpigmentation" }, { "slug": "gangrene", "name": "Death of body tissue due to lack of blood flow or infection", "systems": [ "constitutional-symptom" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/gangrene" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "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": "frequent", "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count" }, { "slug": "decreased-circulating-acth-concentration", "name": "Decreased circulating ACTH concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/decreased-circulating-acth-concentration" }, { "slug": "decreased-circulating-dehydroepiandrosterone-concentration", "name": "Decreased circulating dehydroepiandrosterone concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-circulating-dehydroepiandrosterone-concentration" }, { "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": "decreased-growth-hormone-responses-to-growth-hormone-releasing-hormone-challenge", "name": "Decreased growth hormone responses to growth hormone-releasing hormone challenge", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-growth-hormone-responses-to-growth-hormone-releasing-hormone-challenge" }, { "slug": "hypoplasia-of-the-maxilla", "name": "Decreased size of maxilla", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplasia-of-the-maxilla" }, { "slug": "delayed-eruption-of-teeth", "name": "Delayed eruption of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/depression" }, { "slug": "dermal-translucency", "name": "Dermal translucency", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dermal-translucency" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "diffuse-alveolar-hemorrhage", "name": "Diffuse alveolar hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-alveolar-hemorrhage" }, { "slug": "dislocated-radial-head", "name": "Dislocated radial head", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/dislocated-radial-head" }, { "slug": "disproportionate-short-limb-short-stature", "name": "Disproportionate short-limb short stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature" }, { "slug": "disseminated-intravascular-coagulation", "name": "Disseminated intravascular coagulation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/disseminated-intravascular-coagulation" }, { "slug": "vertigo", "name": "Dizziness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vertigo" }, { "slug": "ductal-carcinoma-in-situ", "name": "Ductal carcinoma in situ", "systems": [ "abnormality-of-the-breast", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ductal-carcinoma-in-situ" }, { "slug": "precocious-puberty", "name": "Early onset of puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/precocious-puberty" }, { "slug": "ecchymosis", "name": "Ecchymosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ecchymosis" }, { "slug": "elevated-circulating-calcitonin-concentration", "name": "Elevated calcitonin", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-calcitonin-concentration" }, { "slug": "elevated-circulating-parathyroid-hormone-level", "name": "Elevated circulating parathyroid hormone level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-parathyroid-hormone-level" }, { "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration", "name": "Elevated circulating thyroid-stimulating hormone concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration" }, { "slug": "increased-circulating-aldosterone-concentration", "name": "Elevated plasma aldosterone", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-aldosterone-concentration" }, { "slug": "elevated-serum-11-deoxycortisol", "name": "Elevated serum 11-deoxycortisol", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-serum-11-deoxycortisol" }, { "slug": "increased-total-leukocyte-count", "name": "Elevated white blood count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-total-leukocyte-count" }, { "slug": "enchondroma", "name": "Enchondroma", "systems": [ "abnormality-of-the-musculoskeletal-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/enchondroma" }, { "slug": "cardiomegaly", "name": "Enlarged heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomegaly" }, { "slug": "gynecomastia", "name": "Enlarged male breast", "systems": [ "abnormality-of-the-breast" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gynecomastia" }, { "slug": "esophageal-neoplasm", "name": "Esophageal tumor", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/esophageal-neoplasm" }, { "slug": "euthyroid-multinodular-goiter", "name": "Euthyroid multinodular goiter", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/euthyroid-multinodular-goiter" }, { "slug": "hypertrichosis", "name": "Excessive hair growth", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertrichosis" }, { "slug": "hirsutism", "name": "Excessive hairiness", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hirsutism" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "exertional-dyspnea", "name": "Exertional breathlessness", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exertional-dyspnea" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "nodular-changes-affecting-the-eyelids", "name": "Eyelid nodules", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nodular-changes-affecting-the-eyelids" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "fibroadenoma-of-the-breast", "name": "Fibroadenoma of the breast", "systems": [ "abnormality-of-the-breast", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fibroadenoma-of-the-breast" }, { "slug": "flat-face", "name": "Flat face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flat-face" }, { "slug": "depressed-nasal-ridge", "name": "Flat nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/depressed-nasal-ridge" }, { "slug": "pedal-edema", "name": "Fluid accumulation in lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pedal-edema" }, { "slug": "follicular-thyroid-carcinoma", "name": "Follicular thyroid carcinoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/follicular-thyroid-carcinoma" }, { "slug": "freckling", "name": "Freckling", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/freckling" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "gonadal-neoplasm", "name": "Gonadal neoplasm", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gonadal-neoplasm" }, { "slug": "growth-abnormality", "name": "Growth abnormality", "systems": [], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-abnormality" }, { "slug": "elevated-circulating-growth-hormone-concentration", "name": "Growth hormone excess", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-circulating-growth-hormone-concentration" }, { "slug": "gingival-overgrowth", "name": "Gum enlargement", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gingival-overgrowth" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "heart-murmur", "name": "Heart murmur", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/heart-murmur" }, { "slug": "hepatocellular-carcinoma", "name": "Hepatocellular carcinoma", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatocellular-carcinoma" }, { "slug": "hyperphosphatemia", "name": "High blood phosphate levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperphosphatemia" }, { "slug": "hypertension", "name": "High blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypertension" }, { "slug": "increased-urinary-cortisol-level", "name": "High urine cortisol level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-urinary-cortisol-level" }, { "slug": "kyphosis", "name": "Hunched back", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/kyphosis" }, { "slug": "hypofibrinogenemia", "name": "Hypofibrinogenemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypofibrinogenemia" }, { "slug": "increased-body-weight", "name": "Increased body weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-body-weight" }, { "slug": "increased-circulating-androgen-concentration", "name": "Increased circulating androgen concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-androgen-concentration" }, { "slug": "increased-circulating-androstenedione-concentration", "name": "Increased circulating androstenedione concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-androstenedione-concentration" }, { "slug": "increased-circulating-cortisol-level", "name": "Increased circulating cortisol level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-cortisol-level" }, { "slug": "increased-circulating-insulin-like-growth-factor-1-concentration", "name": "Increased circulating insulin-like growth factor 1 concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-insulin-like-growth-factor-1-concentration" }, { "slug": "increased-circulating-prolactin-concentration", "name": "Increased circulating prolactin concentration", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-prolactin-concentration" }, { "slug": "increased-serum-estradiol", "name": "Increased serum estradiol", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-serum-estradiol" }, { "slug": "increased-serum-testosterone-level", "name": "Increased testosterone", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-serum-testosterone-level" }, { "slug": "stomatitis", "name": "Inflammation of the mouth", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stomatitis" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "joint-dislocation", "name": "Joint dislocation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-dislocation" }, { "slug": "abnormality-of-metabolism-homeostasis", "name": "Laboratory abnormality", "systems": [], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis" }, { "slug": "macroorchidism", "name": "Large testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macroorchidism" }, { "slug": "leydig-cell-neoplasia", "name": "Leydig cell neoplasia", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/leydig-cell-neoplasia" }, { "slug": "lip-freckle", "name": "Lip freckle", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lip-freckle" }, { "slug": "multiple-lentigines", "name": "Liver spots", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-lentigines" }, { "slug": "long-hallux", "name": "Long big toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/long-hallux" }, { "slug": "pancytopenia", "name": "Low blood cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pancytopenia" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "hypokalemia", "name": "Low blood potassium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypokalemia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "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": "oligozoospermia", "name": "Low sperm count", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligozoospermia" }, { "slug": "pituitary-hypothyroidism", "name": "Low thyroid gland function due to abnormal pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pituitary-hypothyroidism" }, { "slug": "lung-adenocarcinoma", "name": "Lung adenocarcinoma", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lung-adenocarcinoma" }, { "slug": "macronodular-adrenal-hyperplasia", "name": "Macronodular adrenal hyperplasia", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macronodular-adrenal-hyperplasia" }, { "slug": "irregular-menstruation", "name": "Menstrual irregularity", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irregular-menstruation" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "mild-global-developmental-delay", "name": "Mild global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mild-global-developmental-delay" }, { "slug": "mild-postnatal-growth-retardation", "name": "Mild growth deficiency", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/mild-postnatal-growth-retardation" }, { "slug": "nevus", "name": "Mole", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/nevus" }, { "slug": "moon-facies", "name": "Moon face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moon-facies" }, { "slug": "multiple-cafe-au-lait-spots", "name": "Multiple birthmarks", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/multiple-cafe-au-lait-spots" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "myxoid-subcutaneous-tumors", "name": "Myxoid subcutaneous tumors", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "url": "https://dantelabs.com/traits/myxoid-subcutaneous-tumors" }, { "slug": "spinal-canal-stenosis", "name": "Narrow spinal canal", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spinal-canal-stenosis" }, { "slug": "narrow-vertebral-interpedicular-distance", "name": "Narrow vertebral interpedicular distance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-vertebral-interpedicular-distance" }, { "slug": "anteverted-nares", "name": "Nasal tip, upturned", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anteverted-nares" }, { "slug": "neoplasm-of-the-pharynx", "name": "Neoplasm of the pharynx", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-pharynx" }, { "slug": "pituitary-adenoma", "name": "Noncancerous tumor in pituitary gland", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "url": "https://dantelabs.com/traits/pituitary-adenoma" }, { "slug": "open-bite", "name": "Open bite", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/open-bite" }, { "slug": "open-mouth", "name": "Open mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/open-mouth" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "oral-cavity-bleeding", "name": "Oral cavity bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oral-cavity-bleeding" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "genu-varum", "name": "Outward bow-leggedness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/genu-varum" }, { "slug": "ovarian-carcinoma", "name": "Ovarian carcinoma", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ovarian-carcinoma" }, { "slug": "ovarian-cyst", "name": "Ovarian cyst", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ovarian-cyst" }, { "slug": "ovarian-dermoid-cyst", "name": "Ovarian dermoid cyst", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ovarian-dermoid-cyst" }, { "slug": "ovarian-serous-cystadenoma", "name": "Ovarian serous cystadenoma", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ovarian-serous-cystadenoma" }, { "slug": "calvarial-hyperostosis", "name": "Overgrowth of skullcap", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/calvarial-hyperostosis" }, { "slug": "palatine-myxoma", "name": "Palatine myxoma", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palatine-myxoma" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "panic-attack", "name": "Panic attack", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/panic-attack" }, { "slug": "papillary-thyroid-carcinoma", "name": "Papillary thyroid carcinoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/papillary-thyroid-carcinoma" }, { "slug": "paradoxical-increased-cortisol-secretion-on-dexamethasone-suppression-test", "name": "Paradoxical increased cortisol secretion on dexamethasone suppression test", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/paradoxical-increased-cortisol-secretion-on-dexamethasone-suppression-test" }, { "slug": "paranasal-sinus-neoplasm", "name": "Paranasal sinus neoplasm", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/paranasal-sinus-neoplasm" }, { "slug": "sleep-apnea", "name": "Pauses in breathing while sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sleep-apnea" }, { "slug": "abnormality-of-urine-homeostasis", "name": "Pee issues", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-urine-homeostasis" }, { "slug": "peripheral-neuropathy", "name": "Peripheral neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-neuropathy" }, { "slug": "petechiae", "name": "Petechiae", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/petechiae" }, { "slug": "pheochromocytoma", "name": "Pheochromocytoma", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "url": "https://dantelabs.com/traits/pheochromocytoma" }, { "slug": "pigmentation-of-the-sclera", "name": "Pigmentation of the outer white part of the eyeball", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/pigmentation-of-the-sclera" }, { "slug": "pigmented-micronodular-adrenocortical-disease", "name": "Pigmented micronodular adrenocortical disease", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pigmented-micronodular-adrenocortical-disease" }, { "slug": "pituitary-growth-hormone-cell-adenoma", "name": "Pituitary growth hormone cell adenoma", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pituitary-growth-hormone-cell-adenoma" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "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-hypercortisolism", "name": "Primary hypercortisolism", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/primary-hypercortisolism" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "psychosis", "name": "Psychosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/psychosis" }, { "slug": "pulmonic-valve-myxoma", "name": "Pulmonic valve myxoma", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pulmonic-valve-myxoma" }, { "slug": "neoplasm-of-the-rectum", "name": "Rectal tumor", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/neoplasm-of-the-rectum" }, { "slug": "red-hair", "name": "Red hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/red-hair" }, { "slug": "round-face", "name": "Round face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/round-face" }, { "slug": "schwannoma", "name": "Schwannoma", "systems": [ "abnormality-of-the-nervous-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/schwannoma" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "sertoli-cell-neoplasm", "name": "Sertoli cell neoplasm", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sertoli-cell-neoplasm" }, { "slug": "short-phalanx-of-finger", "name": "Short finger bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-phalanx-of-finger" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-metatarsal", "name": "Short long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-metatarsal" }, { "slug": "short-nose", "name": "Short nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-nose" }, { "slug": "short-palm", "name": "Short palm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-palm" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-toe", "name": "Short toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-toe" }, { "slug": "short-metacarpal", "name": "Shortened long bone of hand", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-metacarpal" }, { "slug": "cholestasis", "name": "Slowed or blocked flow of bile from liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cholestasis" }, { "slug": "small-for-gestational-age", "name": "Small for gestational age", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/small-for-gestational-age" }, { "slug": "micromelia", "name": "Smaller or shorter than typical limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micromelia" }, { "slug": "neonatal-epiphyseal-stippling", "name": "Speckled calcifications in bone end parts in neonates", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/neonatal-epiphyseal-stippling" }, { "slug": "epiphyseal-stippling", "name": "Speckled calcifications in end part of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epiphyseal-stippling" }, { "slug": "spotty-hyperpigmentation", "name": "Spotty increased pigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spotty-hyperpigmentation" }, { "slug": "neoplasm-of-the-stomach", "name": "Stomach tumor", "systems": [ "abnormality-of-the-digestive-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-stomach" }, { "slug": "striae-distensae", "name": "Stretch marks", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/striae-distensae" }, { "slug": "stroke", "name": "Stroke", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/stroke" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "tall-stature", "name": "Tall stature", "systems": [ "growth-abnormality" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/tall-stature" }, { "slug": "testicular-adrenal-rest-tumor", "name": "Testicular adrenal rest tumor", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/testicular-adrenal-rest-tumor" }, { "slug": "testicular-neoplasm", "name": "Testicular cancer", "systems": [ "abnormality-of-the-genitourinary-system", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/testicular-neoplasm" }, { "slug": "thin-skin", "name": "Thin skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thin-skin" }, { "slug": "thromboembolism", "name": "Thromboembolism", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thromboembolism" }, { "slug": "thyroid-carcinoma", "name": "Thyroid carcinoma", "systems": [ "abnormality-of-the-endocrine-system", "neoplasm" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/thyroid-carcinoma" }, { "slug": "thyroid-follicular-hyperplasia", "name": "Thyroid follicular hyperplasia", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/thyroid-follicular-hyperplasia" }, { "slug": "easy-fatigability", "name": "Tired easily", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/easy-fatigability" }, { "slug": "tongue-nodules", "name": "Tongue nodules", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tongue-nodules" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "tricuspid-regurgitation", "name": "Tricuspid regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tricuspid-regurgitation" }, { "slug": "truncal-obesity", "name": "Truncal obesity", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/truncal-obesity" }, { "slug": "congenital-hypothyroidism", "name": "Underactive thyroid gland from birth", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/congenital-hypothyroidism" }, { "slug": "hypoplastic-vertebral-bodies", "name": "Underdeveloped back bones", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplastic-vertebral-bodies" }, { "slug": "hypoplasia-of-the-ulna", "name": "Underdeveloped inner large forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "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": "frequent", "url": "https://dantelabs.com/traits/hypoplasia-of-the-radius" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "ventricular-septal-hypertrophy", "name": "Ventricular septal hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ventricular-septal-hypertrophy" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weight-loss" }, { "slug": "productive-cough", "name": "Wet cough", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/productive-cough" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" } ], "related": [ { "slug": "pde11a", "symbol": "PDE11A", "name": "phosphodiesterase 11A", "shared": 1, "url": "https://dantelabs.com/el/genes/pde11a" }, { "slug": "pde4d", "symbol": "PDE4D", "name": "phosphodiesterase 4D", "shared": 1, "url": "https://dantelabs.com/el/genes/pde4d" }, { "slug": "pde8b", "symbol": "PDE8B", "name": "phosphodiesterase 8B", "shared": 1, "url": "https://dantelabs.com/el/genes/pde8b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }