{
  "url": "https://dantelabs.com/el/genes/ptpn11",
  "gene": {
    "slug": "ptpn11",
    "symbol": "PTPN11",
    "name": "protein tyrosine phosphatase non-receptor type 11",
    "hgnc": "HGNC:9644",
    "summary": null,
    "location": "12q24.13",
    "locusType": "gene with protein product",
    "aliases": [
      "BPTP3",
      "SH-PTP2",
      "SHP-2",
      "PTP2C",
      "SHP2"
    ],
    "previousSymbols": [
      "NS1"
    ],
    "ensemblId": "ENSG00000179295",
    "entrezId": 5781,
    "omim": [
      "176876"
    ],
    "uniprot": [
      "Q06124"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "12",
      "start": 112418947,
      "end": 112509918,
      "strand": "+",
      "ensemblTranscript": "ENST00000351677.7",
      "refseqTranscript": "NM_002834.5",
      "ensemblProtein": "ENSP00000340944.3",
      "refseqProtein": "NP_002825.3",
      "exons": [
        {
          "start": 112418947,
          "end": 112419125
        },
        {
          "start": 112446276,
          "end": 112446398
        },
        {
          "start": 112450318,
          "end": 112450512
        },
        {
          "start": 112453195,
          "end": 112453387
        },
        {
          "start": 112454564,
          "end": 112454680
        },
        {
          "start": 112455950,
          "end": 112456063
        },
        {
          "start": 112472944,
          "end": 112473040
        },
        {
          "start": 112477651,
          "end": 112477730
        },
        {
          "start": 112477857,
          "end": 112478015
        },
        {
          "start": 112482074,
          "end": 112482205
        },
        {
          "start": 112486475,
          "end": 112486629
        },
        {
          "start": 112488443,
          "end": 112488510
        },
        {
          "start": 112489024,
          "end": 112489175
        },
        {
          "start": 112502144,
          "end": 112502256
        },
        {
          "start": 112504695,
          "end": 112504796
        },
        {
          "start": 112505825,
          "end": 112509918
        }
      ],
      "cds": {
        "start": 112419112,
        "end": 112504764
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "12",
      "start": 112856155,
      "end": 112947717,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 111964433,
      "end": 112964432,
      "genes": [
        {
          "symbol": "TMEM116",
          "ensemblId": "ENSG00000198270",
          "biotype": "protein_coding",
          "start": 111893714,
          "end": 112014271,
          "strand": "-",
          "slug": "tmem116"
        },
        {
          "symbol": "ERP29",
          "ensemblId": "ENSG00000089248",
          "biotype": "protein_coding",
          "start": 112012815,
          "end": 112026066,
          "strand": "+",
          "slug": "erp29"
        },
        {
          "symbol": "NAA25",
          "ensemblId": "ENSG00000111300",
          "biotype": "protein_coding",
          "start": 112026689,
          "end": 112109434,
          "strand": "-",
          "slug": "naa25"
        },
        {
          "symbol": "TRAFD1",
          "ensemblId": "ENSG00000135148",
          "biotype": "protein_coding",
          "start": 112125514,
          "end": 112153610,
          "strand": "+",
          "slug": "trafd1"
        },
        {
          "symbol": "HECTD4",
          "ensemblId": "ENSG00000173064",
          "biotype": "protein_coding",
          "start": 112160188,
          "end": 112382443,
          "strand": "-",
          "slug": "hectd4"
        },
        {
          "symbol": "RPL6",
          "ensemblId": "ENSG00000089009",
          "biotype": "protein_coding",
          "start": 112403955,
          "end": 112418844,
          "strand": "-",
          "slug": "rpl6"
        },
        {
          "symbol": "RPH3A",
          "ensemblId": "ENSG00000089169",
          "biotype": "protein_coding",
          "start": 112570380,
          "end": 112898881,
          "strand": "+",
          "slug": "rph3a"
        },
        {
          "symbol": "OAS1",
          "ensemblId": "ENSG00000089127",
          "biotype": "protein_coding",
          "start": 112905856,
          "end": 112933219,
          "strand": "+",
          "slug": "oas1"
        },
        {
          "symbol": "OAS3",
          "ensemblId": "ENSG00000111331",
          "biotype": "protein_coding",
          "start": 112938051,
          "end": 112976460,
          "strand": "+",
          "slug": "oas3"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "noonan-syndrome",
        "name": "Σύνδρομο Noonan",
        "diseases": [
          {
            "mondoId": "MONDO:0018997",
            "name": "Σύνδρομο Noonan",
            "genes": 16,
            "inheritance": "autosomal-dominant",
            "description": "Το σύνδρομο Noonan (NS) χαρακτηρίζεται από χαμηλό ανάστημα, τυπικά χαρακτηριστικά του προσώπου και συγγενείς καρδιακές ανωμαλίες.",
            "management": "Καρδιακή παρακολούθηση, υποστήριξη ανάπτυξης, θεραπεία με αυξητική ορμόνη, γενετική συμβουλευτική, κλινικές δοκιμές με αναστολείς MEK",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 8
            },
            "sameAsReport": true,
            "broad": false
          },
          {
            "mondoId": "MONDO:0020297",
            "name": "Σύνδρομο Noonan και σύνδρομα σχετιζόμενα με το Noonan",
            "genes": 21,
            "inheritance": null,
            "description": "Μια ομάδα παθήσεων της οδού RAS, που περιλαμβάνουν τα σύνδρομα Noonan, Costello, καρδιοφακιοδερματικό και Legius, με μεταβλητές καρδιακές ανωμαλίες, χαμηλό ανάστημα και χαρακτηριστικά προσωπικά γνωρίσματα.",
            "management": "Η γνώση αυτής της κατάστασης βοηθά στην παρακολούθηση της καρδιάς, της ανάπτυξης και της ψυχοκινητικής εξέλιξης.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 8
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/noonan-syndrome"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Υπερτροφική Καρδιομυοπάθεια",
        "diseases": [
          {
            "mondoId": "MONDO:0005045",
            "name": "Υπερτροφική Καρδιομυοπάθεια",
            "genes": 62,
            "inheritance": "autosomal-dominant",
            "description": "Πάθηση κατά την οποία ο μυοκάρδιο υπερτροφεί χωρίς προφανή αιτία. Η υπερτροφία είναι γενικά ασύμμετρη και ενδέχεται να συνδέεται με απόφραξη της εκροής της κοιλίας.",
            "management": "Β-αναστολείς, ανασταλτές διαύλων ασβεστίου μη διϋδροπυριδινικής κατηγορίας, περιορισμός της δραστηριότητας, γενετικός συμβουλευτικός έλεγχος",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ],
              "actionability": 8
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/el/conditions/hypertrophic-cardiomyopathy"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-cardiovascular-system-morphology",
        "name": "Abnormal cardiovascular system morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology"
      },
      {
        "slug": "abnormal-ekg",
        "name": "Abnormal EKG",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-ekg"
      },
      {
        "slug": "abnormal-endocardium-morphology",
        "name": "Abnormal endocardium morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-endocardium-morphology"
      },
      {
        "slug": "abnormal-dermatoglyphics",
        "name": "Abnormal fingerprints",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-dermatoglyphics"
      },
      {
        "slug": "abnormal-hair-quantity",
        "name": "Abnormal hair quantity",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-quantity"
      },
      {
        "slug": "arrhythmia",
        "name": "Abnormal heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arrhythmia"
      },
      {
        "slug": "abnormal-localization-of-kidney",
        "name": "Abnormal localisation of kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-localization-of-kidney"
      },
      {
        "slug": "abnormal-mitral-valve-morphology",
        "name": "Abnormal mitral valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-mitral-valve-morphology"
      },
      {
        "slug": "abnormal-platelet-function",
        "name": "Abnormal platelet function",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-platelet-function"
      },
      {
        "slug": "abnormal-pulmonary-valve-morphology",
        "name": "Abnormal pulmonary valve morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-pulmonary-valve-morphology"
      },
      {
        "slug": "abnormal-epiphysis-morphology",
        "name": "Abnormal shape of end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-epiphysis-morphology"
      },
      {
        "slug": "abnormal-joint-morphology",
        "name": "Abnormal shape of joints",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/abnormal-joint-morphology"
      },
      {
        "slug": "abnormal-speech-pattern",
        "name": "Abnormal speech pattern",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-speech-pattern"
      },
      {
        "slug": "abnormality-of-coagulation",
        "name": "Abnormality of coagulation",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-coagulation"
      },
      {
        "slug": "abnormality-of-the-pulmonary-artery",
        "name": "Abnormality of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-pulmonary-artery"
      },
      {
        "slug": "abnormality-of-the-face",
        "name": "Abnormality of the face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-face"
      },
      {
        "slug": "abnormality-of-the-lymphatic-system",
        "name": "Abnormality of the lymphatic system",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-lymphatic-system"
      },
      {
        "slug": "abnormality-of-the-genital-system",
        "name": "Abnormality of the reproductive system",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genital-system"
      },
      {
        "slug": "abnormality-of-the-spleen",
        "name": "Abnormality of the spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-spleen"
      },
      {
        "slug": "abnormal-sternum-morphology",
        "name": "Abnormality of the sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-sternum-morphology"
      },
      {
        "slug": "abnormality-of-the-voice",
        "name": "Abnormality of the voice",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-voice"
      },
      {
        "slug": "abnormal-metaphysis-morphology",
        "name": "Abnormality of the wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-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"
        ],
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "aplasia-of-the-ovary",
        "name": "Absent ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/aplasia-of-the-ovary"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-abdominal-wall-musculature",
        "name": "Absent/small abdominal wall muscles",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-abdominal-wall-musculature"
      },
      {
        "slug": "woolly-hair",
        "name": "Afro-textured hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/woolly-hair"
      },
      {
        "slug": "amegakaryocytic-thrombocytopenia",
        "name": "Amegakaryocytic thrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/amegakaryocytic-thrombocytopenia"
      },
      {
        "slug": "atrial-septal-defect",
        "name": "An opening in the wall separating the top two chambers of the heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "vascular-dilatation",
        "name": "Aneurysm",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/vascular-dilatation"
      },
      {
        "slug": "aplasia-of-the-semicircular-canal",
        "name": "Aplasia of the semicircular canal",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-of-the-semicircular-canal"
      },
      {
        "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": "very-frequent",
        "url": "https://dantelabs.com/traits/melanocytic-nevus"
      },
      {
        "slug": "macrocephaly",
        "name": "Big calvaria",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macrocephaly"
      },
      {
        "slug": "mandibular-prognathia",
        "name": "Big lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/mandibular-prognathia"
      },
      {
        "slug": "cafe-au-lait-spot",
        "name": "Birthmark",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cafe-au-lait-spot"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "blue-irides",
        "name": "Blue eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blue-irides"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "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"
        ],
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "slug": "broad-forehead",
        "name": "Broad forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/broad-forehead"
      },
      {
        "slug": "brachycephaly",
        "name": "Broad head shape",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachycephaly"
      },
      {
        "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": "proptosis",
        "name": "Bulging eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/proptosis"
      },
      {
        "slug": "bundle-branch-block",
        "name": "Bundle branch block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bundle-branch-block"
      },
      {
        "slug": "neuroblastoma",
        "name": "Cancer of early nerve cells",
        "systems": [
          "abnormality-of-the-nervous-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neuroblastoma"
      },
      {
        "slug": "melanoma",
        "name": "Cancer of skin pigment cells",
        "systems": [
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/melanoma"
      },
      {
        "slug": "chylothorax",
        "name": "Chylothorax",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chylothorax"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "coarse-hair",
        "name": "Coarse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coarse-hair"
      },
      {
        "slug": "complete-atrioventricular-canal-defect",
        "name": "Complete atrioventricular canal defect",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/complete-atrioventricular-canal-defect"
      },
      {
        "slug": "third-degree-atrioventricular-block",
        "name": "Complete heart block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/third-degree-atrioventricular-block"
      },
      {
        "slug": "cranial-nerve-paralysis",
        "name": "Cranial nerve paralysis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cranial-nerve-paralysis"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "clinodactyly-of-the-5th-finger",
        "name": "Curvature of little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clinodactyly-of-the-5th-finger"
      },
      {
        "slug": "cystic-hygroma",
        "name": "Cystic hygroma",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cystic-hygroma"
      },
      {
        "slug": "avascular-necrosis",
        "name": "Death of bone due to decreased blood supply",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/avascular-necrosis"
      },
      {
        "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-fertility",
        "name": "Decreased fertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-fertility"
      },
      {
        "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"
        ],
        "url": "https://dantelabs.com/traits/delayed-puberty"
      },
      {
        "slug": "delayed-menarche",
        "name": "Delayed start of first period",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system",
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-menarche"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "dilatation-of-the-renal-pelvis",
        "name": "Dilatation of the renal pelvis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dilatation-of-the-renal-pelvis"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "hypertrophic-cardiomyopathy",
        "name": "Enlarged and thickened heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "excessive-wrinkled-skin",
        "name": "Excessive wrinkled skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/excessive-wrinkled-skin"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "slug": "failure-to-thrive-in-infancy",
        "name": "Faltering weight in infancy",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/failure-to-thrive-in-infancy"
      },
      {
        "slug": "feeding-difficulties-in-infancy",
        "name": "Feeding difficulties in infancy",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy"
      },
      {
        "slug": "subcutaneous-nodule",
        "name": "Firm lump under the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subcutaneous-nodule"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "exostoses",
        "name": "Formation of new noncancerous bone on top of existing bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/exostoses"
      },
      {
        "slug": "freckling",
        "name": "Freckling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/freckling"
      },
      {
        "slug": "thick-lower-lip-vermilion",
        "name": "Full lower lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "radioulnar-synostosis",
        "name": "Fused forearm bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/radioulnar-synostosis"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "postnatal-growth-retardation",
        "name": "Growth delay as children",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/postnatal-growth-retardation"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "myocardial-infarction",
        "name": "Heart attack",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myocardial-infarction"
      },
      {
        "slug": "high-forehead",
        "name": "High forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-forehead"
      },
      {
        "slug": "high-palate",
        "name": "High palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-palate"
      },
      {
        "slug": "sprengel-anomaly",
        "name": "High shoulder blade",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sprengel-anomaly"
      },
      {
        "slug": "high-narrow-palate",
        "name": "High, narrow palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/high-narrow-palate"
      },
      {
        "slug": "atrioventricular-canal-defect",
        "name": "Hole in center of heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atrioventricular-canal-defect"
      },
      {
        "slug": "ventricular-septal-defect",
        "name": "Hole in heart wall separating two lower heart chambers",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/ventricular-septal-defect"
      },
      {
        "slug": "hyperextensible-skin",
        "name": "Hyperelastic skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperextensible-skin"
      },
      {
        "slug": "hypogonadotropic-hypogonadism",
        "name": "Hypogonadotropic hypogonadism",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypogonadotropic-hypogonadism"
      },
      {
        "slug": "hyposmia",
        "name": "Hyposmia",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyposmia"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "mild-intellectual-disability",
        "name": "Intellectual disability, mild",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/mild-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "juvenile-myelomonocytic-leukemia",
        "name": "Juvenile myelomonocytic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/juvenile-myelomonocytic-leukemia"
      },
      {
        "slug": "kyphoscoliosis",
        "name": "Kyphoscoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/kyphoscoliosis"
      },
      {
        "slug": "limited-elbow-movement",
        "name": "Limited elbow movement",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/limited-elbow-movement"
      },
      {
        "slug": "micrognathia",
        "name": "Little lower jaw",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micrognathia"
      },
      {
        "slug": "multiple-lentigines",
        "name": "Liver spots",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multiple-lentigines"
      },
      {
        "slug": "low-posterior-hairline",
        "name": "Low hairline at back of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-posterior-hairline"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "male-infertility",
        "name": "Male infertility",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/male-infertility"
      },
      {
        "slug": "malignant-peripheral-nerve-sheath-tumor",
        "name": "Malignant peripheral nerve sheath tumor",
        "systems": [
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/malignant-peripheral-nerve-sheath-tumor"
      },
      {
        "slug": "midface-retrusion",
        "name": "Midface retrusion",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/midface-retrusion"
      },
      {
        "slug": "missing-ribs",
        "name": "Missing ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/missing-ribs"
      },
      {
        "slug": "mitral-valve-prolapse",
        "name": "Mitral valve prolapse",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mitral-valve-prolapse"
      },
      {
        "slug": "multiple-digital-exostoses",
        "name": "Multiple digital exostoses",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "url": "https://dantelabs.com/traits/multiple-digital-exostoses"
      },
      {
        "slug": "multiple-enchondromatosis",
        "name": "Multiple enchondromatosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multiple-enchondromatosis"
      },
      {
        "slug": "multiple-exostoses",
        "name": "Multiple exostoses",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "neoplasm"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/multiple-exostoses"
      },
      {
        "slug": "muscle-weakness",
        "name": "Muscle weakness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "coarctation-of-aorta",
        "name": "Narrowing of aorta",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/coarctation-of-aorta"
      },
      {
        "slug": "subvalvular-aortic-stenosis",
        "name": "Narrowing of blood vessel below aortic heart valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subvalvular-aortic-stenosis"
      },
      {
        "slug": "pulmonary-artery-stenosis",
        "name": "Narrowing of lung artery",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-artery-stenosis"
      },
      {
        "slug": "pulmonic-stenosis",
        "name": "Narrowing of pulmonic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonic-stenosis"
      },
      {
        "slug": "neurodevelopmental-delay",
        "name": "Neurodevelopmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/neurodevelopmental-delay"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "cubitus-valgus",
        "name": "Outward turned elbows",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cubitus-valgus"
      },
      {
        "slug": "parietal-bossing",
        "name": "Parietal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/parietal-bossing"
      },
      {
        "slug": "patent-ductus-arteriosus",
        "name": "Patent ductus arteriosus",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/patent-ductus-arteriosus"
      },
      {
        "slug": "pectus-excavatum-of-inferior-sternum",
        "name": "Pectus excavatum of inferior sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/pectus-excavatum-of-inferior-sternum"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "radial-deviation-of-finger",
        "name": "Radial deviation of finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/radial-deviation-of-finger"
      },
      {
        "slug": "reduced-factor-xii-activity",
        "name": "Reduced factor XII activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/reduced-factor-xii-activity"
      },
      {
        "slug": "reduced-factor-xiii-activity",
        "name": "Reduced factor XIII activity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/reduced-factor-xiii-activity"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "sensorineural-hearing-impairment",
        "name": "Sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-sensorineural-hearing-impairment",
        "name": "Severe sensorineural hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-sensorineural-hearing-impairment"
      },
      {
        "slug": "shield-chest",
        "name": "Shield chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/shield-chest"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "slug": "micropenis",
        "name": "Short penis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/micropenis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "spina-bifida-occulta",
        "name": "Spina bifida occulta",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/spina-bifida-occulta"
      },
      {
        "slug": "superior-pectus-carinatum",
        "name": "Superior pectus carinatum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/superior-pectus-carinatum"
      },
      {
        "slug": "lymphedema",
        "name": "Swelling caused by excess lymph fluid under skin",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphedema"
      },
      {
        "slug": "synovitis",
        "name": "Synovitis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/synovitis"
      },
      {
        "slug": "thickened-helices",
        "name": "Thickened helices",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thickened-helices"
      },
      {
        "slug": "thickened-nuchal-skin-fold",
        "name": "Thickened skin folds of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thickened-nuchal-skin-fold"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "hypoplasia-of-the-ovary",
        "name": "Underdeveloped ovary",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-ovary"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "webbed-neck",
        "name": "Webbed neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/webbed-neck"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "enlarged-thorax",
        "name": "Wide rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/enlarged-thorax"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypertelorism"
      },
      {
        "slug": "wide-intermamillary-distance",
        "name": "Wide-spaced nipples",
        "systems": [
          "abnormality-of-the-breast"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/wide-intermamillary-distance"
      },
      {
        "slug": "scapular-winging",
        "name": "Winged shoulder blade",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scapular-winging"
      }
    ],
    "related": [
      {
        "slug": "braf",
        "symbol": "BRAF",
        "name": "B-Raf proto-oncogene, serine/threonine kinase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/braf"
      },
      {
        "slug": "erf",
        "symbol": "ERF",
        "name": "ETS2 repressor factor",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/erf"
      },
      {
        "slug": "kras",
        "symbol": "KRAS",
        "name": "KRas proto-oncogene, GTPase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/kras"
      },
      {
        "slug": "lztr1",
        "symbol": "LZTR1",
        "name": "leucine zipper like post translational regulator 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/lztr1"
      },
      {
        "slug": "mapk1",
        "symbol": "MAPK1",
        "name": "mitogen-activated protein kinase 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/mapk1"
      },
      {
        "slug": "mras",
        "symbol": "MRAS",
        "name": "muscle RAS oncogene homolog",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/mras"
      },
      {
        "slug": "nras",
        "symbol": "NRAS",
        "name": "NRAS proto-oncogene, GTPase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/nras"
      },
      {
        "slug": "ppp1cb",
        "symbol": "PPP1CB",
        "name": "protein phosphatase 1 catalytic subunit beta",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/ppp1cb"
      },
      {
        "slug": "raf1",
        "symbol": "RAF1",
        "name": "Raf-1 proto-oncogene, serine/threonine kinase",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/raf1"
      },
      {
        "slug": "rit1",
        "symbol": "RIT1",
        "name": "Ras like without CAAX 1",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/rit1"
      },
      {
        "slug": "rras2",
        "symbol": "RRAS2",
        "name": "RAS related 2",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/rras2"
      },
      {
        "slug": "shoc2",
        "symbol": "SHOC2",
        "name": "SHOC2 leucine rich repeat scaffold protein",
        "shared": 3,
        "url": "https://dantelabs.com/el/genes/shoc2"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 8,
    "url": "https://dantelabs.com/genes/ptpn11/variants",
    "items": [
      {
        "slug": "e139d",
        "name": "E139D",
        "commonName": null,
        "symbol": "PTPN11",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.417G>C",
        "position": 112453279,
        "grch37Position": 112891083,
        "part": {
          "kind": "exon",
          "number": 4
        },
        "url": "https://dantelabs.com/genes/ptpn11/variants/e139d"
      },
      {
        "slug": "i56t",
        "name": "I56T",
        "commonName": null,
        "symbol": "PTPN11",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": "c.167T>C",
        "position": 112450347,
        "grch37Position": 112888151,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/ptpn11/variants/i56t"
      },
      {
        "slug": "i56v",
        "name": "I56V",
        "commonName": null,
        "symbol": "PTPN11",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.166A>G",
        "position": 112450346,
        "grch37Position": 112888150,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/ptpn11/variants/i56v"
      },
      {
        "slug": "m504v",
        "name": "M504V",
        "commonName": null,
        "symbol": "PTPN11",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1510A>G",
        "position": 112489086,
        "grch37Position": 112926890,
        "part": {
          "kind": "exon",
          "number": 13
        },
        "url": "https://dantelabs.com/genes/ptpn11/variants/m504v"
      },
      {
        "slug": "n308d",
        "name": "N308D",
        "commonName": null,
        "symbol": "PTPN11",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.922A>G",
        "position": 112477719,
        "grch37Position": 112915523,
        "part": {
          "kind": "exon",
          "number": 8
        },
        "url": "https://dantelabs.com/genes/ptpn11/variants/n308d"
      },
      {
        "slug": "q510p",
        "name": "Q510P",
        "commonName": null,
        "symbol": "PTPN11",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1529A>C",
        "position": 112489105,
        "grch37Position": 112926909,
        "part": {
          "kind": "exon",
          "number": 13
        },
        "url": "https://dantelabs.com/genes/ptpn11/variants/q510p"
      },
      {
        "slug": "t468m",
        "name": "T468M",
        "commonName": null,
        "symbol": "PTPN11",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.1403C>T",
        "position": 112488466,
        "grch37Position": 112926270,
        "part": {
          "kind": "exon",
          "number": 12
        },
        "url": "https://dantelabs.com/genes/ptpn11/variants/t468m"
      },
      {
        "slug": "y63c",
        "name": "Y63C",
        "commonName": null,
        "symbol": "PTPN11",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": "c.188A>G",
        "position": 112450368,
        "grch37Position": 112888172,
        "part": {
          "kind": "exon",
          "number": 3
        },
        "url": "https://dantelabs.com/genes/ptpn11/variants/y63c"
      }
    ]
  }
}