{
  "url": "https://dantelabs.com/pl/genes/rmrp",
  "gene": {
    "slug": "rmrp",
    "symbol": "RMRP",
    "name": "RNA component of mitochondrial RNA processing endoribonuclease",
    "hgnc": "HGNC:10031",
    "summary": null,
    "location": "9p13.3",
    "locusType": "RNA, misc",
    "aliases": [
      "RMRPR",
      "RRP2",
      "NME1"
    ],
    "previousSymbols": [
      "CHH"
    ],
    "ensemblId": "ENSG00000277027",
    "entrezId": 6023,
    "omim": [
      "157660"
    ],
    "uniprot": [],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 35657750,
      "end": 35658019,
      "strand": "-",
      "ensemblTranscript": "ENST00000363046.2",
      "refseqTranscript": "NR_003051.4",
      "exons": [
        {
          "start": 35657750,
          "end": 35658019
        }
      ]
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 35657748,
      "end": 35658015,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 35157885,
      "end": 36157884,
      "genes": [
        {
          "symbol": "UNC13B",
          "ensemblId": "ENSG00000198722",
          "biotype": "protein_coding",
          "start": 35161829,
          "end": 35405339,
          "strand": "+",
          "slug": "unc13b"
        },
        {
          "symbol": "RUSC2",
          "ensemblId": "ENSG00000198853",
          "biotype": "protein_coding",
          "start": 35489670,
          "end": 35562266,
          "strand": "+",
          "slug": "rusc2"
        },
        {
          "symbol": "CIMIP2B",
          "ensemblId": "ENSG00000215187",
          "biotype": "protein_coding",
          "start": 35561831,
          "end": 35563914,
          "strand": "-",
          "slug": "cimip2b"
        },
        {
          "symbol": "TESK1",
          "ensemblId": "ENSG00000107140",
          "biotype": "protein_coding",
          "start": 35605235,
          "end": 35610328,
          "strand": "+",
          "slug": "tesk1"
        },
        {
          "symbol": "CD72",
          "ensemblId": "ENSG00000137101",
          "biotype": "protein_coding",
          "start": 35609965,
          "end": 35646810,
          "strand": "-",
          "slug": "cd72"
        },
        {
          "symbol": "SIT1",
          "ensemblId": "ENSG00000137078",
          "biotype": "protein_coding",
          "start": 35649288,
          "end": 35650970,
          "strand": "-",
          "slug": "sit1"
        },
        {
          "symbol": "CCDC107",
          "ensemblId": "ENSG00000159884",
          "biotype": "protein_coding",
          "start": 35658277,
          "end": 35661524,
          "strand": "+",
          "slug": "ccdc107"
        },
        {
          "symbol": "ARHGEF39",
          "ensemblId": "ENSG00000137135",
          "biotype": "protein_coding",
          "start": 35658874,
          "end": 35675866,
          "strand": "-",
          "slug": "arhgef39"
        },
        {
          "symbol": "CA9",
          "ensemblId": "ENSG00000107159",
          "biotype": "protein_coding",
          "start": 35673898,
          "end": 35681159,
          "strand": "+",
          "slug": "ca9"
        },
        {
          "symbol": "TPM2",
          "ensemblId": "ENSG00000198467",
          "biotype": "protein_coding",
          "start": 35681992,
          "end": 35691116,
          "strand": "-",
          "slug": "tpm2"
        },
        {
          "symbol": "TLN1",
          "ensemblId": "ENSG00000137076",
          "biotype": "protein_coding",
          "start": 35696925,
          "end": 35732212,
          "strand": "-",
          "slug": "tln1"
        },
        {
          "symbol": "CREB3",
          "ensemblId": "ENSG00000107175",
          "biotype": "protein_coding",
          "start": 35732296,
          "end": 35738887,
          "strand": "+",
          "slug": "creb3"
        },
        {
          "symbol": "GBA2",
          "ensemblId": "ENSG00000070610",
          "biotype": "protein_coding",
          "start": 35734577,
          "end": 35749986,
          "strand": "-",
          "slug": "gba2"
        },
        {
          "symbol": "RGP1",
          "ensemblId": "ENSG00000107185",
          "biotype": "protein_coding",
          "start": 35748613,
          "end": 35759600,
          "strand": "+",
          "slug": "rgp1"
        },
        {
          "symbol": "MSMP",
          "ensemblId": "ENSG00000215183",
          "biotype": "protein_coding",
          "start": 35752990,
          "end": 35756613,
          "strand": "-",
          "slug": "msmp"
        },
        {
          "symbol": "NPR2",
          "ensemblId": "ENSG00000159899",
          "biotype": "protein_coding",
          "start": 35791003,
          "end": 35809732,
          "strand": "+",
          "slug": "npr2"
        },
        {
          "symbol": "SPAG8",
          "ensemblId": "ENSG00000137098",
          "biotype": "protein_coding",
          "start": 35808045,
          "end": 35812272,
          "strand": "-",
          "slug": "spag8"
        },
        {
          "symbol": "HINT2",
          "ensemblId": "ENSG00000137133",
          "biotype": "protein_coding",
          "start": 35812960,
          "end": 35815354,
          "strand": "-",
          "slug": "hint2"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000285645",
          "biotype": "protein_coding",
          "start": 35812960,
          "end": 35828732,
          "strand": "-"
        },
        {
          "symbol": "TMEM8B",
          "ensemblId": "ENSG00000137103",
          "biotype": "protein_coding",
          "start": 35814451,
          "end": 35865518,
          "strand": "+",
          "slug": "tmem8b"
        },
        {
          "symbol": "FAM221B",
          "ensemblId": "ENSG00000204930",
          "biotype": "protein_coding",
          "start": 35816391,
          "end": 35828747,
          "strand": "-",
          "slug": "fam221b"
        },
        {
          "symbol": "OR13J1",
          "ensemblId": "ENSG00000168828",
          "biotype": "protein_coding",
          "start": 35869463,
          "end": 35870401,
          "strand": "-",
          "slug": "or13j1"
        },
        {
          "symbol": "HRCT1",
          "ensemblId": "ENSG00000196196",
          "biotype": "protein_coding",
          "start": 35906202,
          "end": 35907136,
          "strand": "+",
          "slug": "hrct1"
        },
        {
          "symbol": "SPAAR",
          "ensemblId": "ENSG00000235387",
          "biotype": "protein_coding",
          "start": 35909488,
          "end": 35937153,
          "strand": "+",
          "slug": "spaar"
        },
        {
          "symbol": "OR2S2",
          "ensemblId": "ENSG00000278889",
          "biotype": "protein_coding",
          "start": 35957108,
          "end": 35958154,
          "strand": "-",
          "slug": "or2s2"
        },
        {
          "symbol": "OR13C7",
          "ensemblId": "ENSG00000243641",
          "biotype": "protein_coding",
          "start": 36002909,
          "end": 36003867,
          "strand": "-",
          "slug": "or13c7"
        },
        {
          "symbol": "RECK",
          "ensemblId": "ENSG00000122707",
          "biotype": "protein_coding",
          "start": 36036896,
          "end": 36124457,
          "strand": "+",
          "slug": "reck"
        },
        {
          "symbol": "GLIPR2",
          "ensemblId": "ENSG00000122694",
          "biotype": "protein_coding",
          "start": 36136417,
          "end": 36163913,
          "strand": "+",
          "slug": "glipr2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "immuno-osseous-dysplasias",
        "name": "Dysplazje kostno-odpornościowe",
        "diseases": [
          {
            "mondoId": "MONDO:0015708",
            "name": "Dysplazja kostno-odpornościowa",
            "genes": 2,
            "inheritance": "autosomal-recessive",
            "description": "Grupa schorzeń, w tym chondrohypoplazja włosowa (RMRP) i dysplazja kostno-odpornościowa Schimkego (SMARCAL1), łącząca dysplazję szkieletu z niedoborem odporności.",
            "management": "Znajomość rozpoznania pozwala unikać szczepionek żywych, zapobiegać zakażeniom oraz monitorować nerki, morfologię krwi i ryzyko nowotworów.",
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/immuno-osseous-dysplasias"
      },
      {
        "slug": "immunodeficiency-disease",
        "name": "Inne wrodzone błędy odporności",
        "diseases": [
          {
            "mondoId": "MONDO:0003778",
            "name": "Wrodzone zaburzenie odporności",
            "genes": 114,
            "inheritance": null,
            "description": "Dziedziczne zaburzenia układu odpornościowego spowodowane zmianami w pojedynczych genach, wpływające na zdolność organizmu do zwalczania zakażeń lub regulowania stanu zapalnego.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "Myriad Women's Health",
                "Natera",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/pl/conditions/immunodeficiency-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-bone-ossification",
        "name": "Abnormal bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-bone-ossification"
      },
      {
        "slug": "abnormally-ossified-vertebrae",
        "name": "Abnormal bone maturation of vertebra",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormally-ossified-vertebrae"
      },
      {
        "slug": "abnormal-cardiac-septum-morphology",
        "name": "Abnormal cardiac septum morphology",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-cardiac-septum-morphology"
      },
      {
        "slug": "abnormal-lymphocyte-morphology",
        "name": "Abnormal lymphocyte morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-lymphocyte-morphology"
      },
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "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-pelvic-girdle-bone-morphology",
        "name": "Abnormal shape of pelvic girdle bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology"
      },
      {
        "slug": "abnormal-diaphysis-morphology",
        "name": "Abnormal shape of shaft of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-diaphysis-morphology"
      },
      {
        "slug": "skeletal-dysplasia",
        "name": "Abnormal skeletal development",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skeletal-dysplasia"
      },
      {
        "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-chromosome-stability",
        "name": "Abnormality of chromosome stability",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-chromosome-stability"
      },
      {
        "slug": "abnormal-hip-bone-morphology",
        "name": "Abnormality of the hip bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hip-bone-morphology"
      },
      {
        "slug": "abnormal-distal-phalanx-morphology-of-finger",
        "name": "Abnormality of the outermost finger bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-distal-phalanx-morphology-of-finger"
      },
      {
        "slug": "abnormal-palate-morphology",
        "name": "Abnormality of the palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-palate-morphology"
      },
      {
        "slug": "abnormality-of-the-pancreas",
        "name": "Abnormality of the pancreas",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-pancreas"
      },
      {
        "slug": "abnormal-rib-morphology",
        "name": "Abnormality of the ribs",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-rib-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": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology"
      },
      {
        "slug": "macroglossia",
        "name": "Abnormally large tongue",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/macroglossia"
      },
      {
        "slug": "absent-pubertal-growth-spurt",
        "name": "Absent pubertal growth spurt",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/absent-pubertal-growth-spurt"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-abdominal-wall-musculature"
      },
      {
        "slug": "aplasia-hypoplasia-affecting-the-eye",
        "name": "Absent/small eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-affecting-the-eye"
      },
      {
        "slug": "accelerated-skeletal-maturation",
        "name": "Advanced bone age",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation"
      },
      {
        "slug": "asymmetry-of-the-thorax",
        "name": "Asymmetric chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/asymmetry-of-the-thorax"
      },
      {
        "slug": "atlantoaxial-dislocation",
        "name": "Atlantoaxial dislocation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/atlantoaxial-dislocation"
      },
      {
        "slug": "autoimmunity",
        "name": "Autoimmunity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/autoimmunity"
      },
      {
        "slug": "barrel-shaped-chest",
        "name": "Barrel-shaped chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/barrel-shaped-chest"
      },
      {
        "slug": "basal-cell-carcinoma",
        "name": "Basal cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/basal-cell-carcinoma"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "biconvex-vertebral-bodies",
        "name": "Biconvex vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/biconvex-vertebral-bodies"
      },
      {
        "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": "esophageal-atresia",
        "name": "Birth defect in which part of esophagus did not develop",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/esophageal-atresia"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "tibial-bowing",
        "name": "Bowed shankbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tibial-bowing"
      },
      {
        "slug": "femoral-bowing",
        "name": "Bowed thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/femoral-bowing"
      },
      {
        "slug": "bowing-of-the-long-bones",
        "name": "Bowing of the long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-long-bones"
      },
      {
        "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": "metaphyseal-widening",
        "name": "Broad wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-widening"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "cellular-immunodeficiency",
        "name": "Cellular immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/cellular-immunodeficiency"
      },
      {
        "slug": "cervical-cord-compression",
        "name": "Cervical cord compression",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cervical-cord-compression"
      },
      {
        "slug": "cervical-subluxation",
        "name": "Cervical subluxation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/cervical-subluxation"
      },
      {
        "slug": "chronic-diarrhea",
        "name": "Chronic diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/chronic-diarrhea"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "cognitive-impairment",
        "name": "Cognitive impairment",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cognitive-impairment"
      },
      {
        "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": "congenital-hypoplastic-anemia",
        "name": "Congenital hypoplastic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/congenital-hypoplastic-anemia"
      },
      {
        "slug": "constipation",
        "name": "Constipation",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/constipation"
      },
      {
        "slug": "coxa-vara",
        "name": "Coxa vara",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/coxa-vara"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "metaphyseal-cupping-of-metacarpals",
        "name": "Cupping of wide portion of long bone of hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-cupping-of-metacarpals"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "decreased-circulating-immunoglobulin-concentration",
        "name": "Decreased circulating antibody level",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-circulating-immunoglobulin-concentration"
      },
      {
        "slug": "microdontia",
        "name": "Decreased size of tooth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/microdontia"
      },
      {
        "slug": "delayed-skeletal-maturation",
        "name": "Delayed bone maturation",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/delayed-skeletal-maturation"
      },
      {
        "slug": "delayed-ossification-of-carpal-bones",
        "name": "Delayed maturation of wrist bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ossification-of-carpal-bones"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "desquamation-of-skin-soon-after-birth",
        "name": "Desquamation of skin soon after birth",
        "systems": [
          "abnormality-of-prenatal-development-or-birth",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/desquamation-of-skin-soon-after-birth"
      },
      {
        "slug": "diminished-deep-tendon-reflex",
        "name": "Diminished deep tendon reflex",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex"
      },
      {
        "slug": "cardiomyopathy",
        "name": "Disease of the heart muscle",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cardiomyopathy"
      },
      {
        "slug": "disproportionate-short-limb-short-stature",
        "name": "Disproportionate short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature"
      },
      {
        "slug": "mesomelia",
        "name": "Disproportionately short middle portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/mesomelia"
      },
      {
        "slug": "rhizomelia",
        "name": "Disproportionately short upper portion of limb",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system",
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rhizomelia"
      },
      {
        "slug": "joint-hypermobility",
        "name": "Double-Jointed",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-hypermobility"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "posteriorly-rotated-ears",
        "name": "Ears rotated toward back of head",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/posteriorly-rotated-ears"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "elbow-flexion-contracture",
        "name": "Elbow flexion contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elbow-flexion-contracture"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "lumbar-hyperlordosis",
        "name": "Excessive inward curvature of lower spine",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lumbar-hyperlordosis"
      },
      {
        "slug": "epicanthus",
        "name": "Eye folds",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/epicanthus"
      },
      {
        "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": "fair-hair",
        "name": "Fair hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/fair-hair"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "breech-presentation",
        "name": "Feet or buttocks of fetus positioned near opening of uterus",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/breech-presentation"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "fine-hair",
        "name": "Fine hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/fine-hair"
      },
      {
        "slug": "flared-metaphysis",
        "name": "Flared wide portion of long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/flared-metaphysis"
      },
      {
        "slug": "flaring-of-lower-rib-cage",
        "name": "Flaring of lower rib cage",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flaring-of-lower-rib-cage"
      },
      {
        "slug": "depressed-nasal-ridge",
        "name": "Flat nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/depressed-nasal-ridge"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/edema"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "gingival-overgrowth",
        "name": "Gum enlargement",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/gingival-overgrowth"
      },
      {
        "slug": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "heart-block",
        "name": "Heart block",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/heart-block"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "hip-contracture",
        "name": "Hip contracture",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hip-contracture"
      },
      {
        "slug": "hypoplasia-of-the-odontoid-process",
        "name": "Hypoplasia of the odontoid process",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-odontoid-process"
      },
      {
        "slug": "impaired-phytohemagglutinin-induced-t-lymphocyte-transformation",
        "name": "Impaired phytohemagglutinin-induced T lymphocyte transformation",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/impaired-phytohemagglutinin-induced-t-lymphocyte-transformation"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "sepsis",
        "name": "Infection in blood stream",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sepsis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "metaphyseal-irregularity",
        "name": "Irregular wide portion of a long bone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-irregularity"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "j-shaped-sella-turcica",
        "name": "J-shaped sella turcica",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/j-shaped-sella-turcica"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "large-face",
        "name": "Large face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/large-face"
      },
      {
        "slug": "limited-elbow-extension",
        "name": "Limited elbow extension",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limited-elbow-extension"
      },
      {
        "slug": "hypocalcemia",
        "name": "Low blood calcium levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypocalcemia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "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": "macrocytic-anemia",
        "name": "Macrocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/macrocytic-anemia"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "metaphyseal-chondrodysplasia",
        "name": "Metaphyseal chondrodysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/metaphyseal-chondrodysplasia"
      },
      {
        "slug": "metaphyseal-cupping",
        "name": "Metaphyseal cupping",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/metaphyseal-cupping"
      },
      {
        "slug": "metaphyseal-dysplasia",
        "name": "Metaphyseal dysplasia",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-dysplasia"
      },
      {
        "slug": "metaphyseal-striations",
        "name": "Metaphyseal striations",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metaphyseal-striations"
      },
      {
        "slug": "mucopolysacchariduria",
        "name": "Mucopolysacchariduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mucopolysacchariduria"
      },
      {
        "slug": "narrow-chest",
        "name": "Narrow chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/narrow-chest"
      },
      {
        "slug": "narrow-vertebral-interpedicular-distance",
        "name": "Narrow vertebral interpedicular distance",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/narrow-vertebral-interpedicular-distance"
      },
      {
        "slug": "anal-stenosis",
        "name": "Narrowing of anal opening",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/anal-stenosis"
      },
      {
        "slug": "aortic-valve-stenosis",
        "name": "Narrowing of aortic valve",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/aortic-valve-stenosis"
      },
      {
        "slug": "tracheal-stenosis",
        "name": "Narrowing of windpipe",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/tracheal-stenosis"
      },
      {
        "slug": "anteverted-nares",
        "name": "Nasal tip, upturned",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anteverted-nares"
      },
      {
        "slug": "neonatal-short-limb-short-stature",
        "name": "Neonatal short-limb short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/neonatal-short-limb-short-stature"
      },
      {
        "slug": "nephrotic-syndrome",
        "name": "Nephrotic syndrome",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephrotic-syndrome"
      },
      {
        "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": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "pointed-chin",
        "name": "Pointed chin",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pointed-chin"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "prominent-forehead",
        "name": "Prominent forehead",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-forehead"
      },
      {
        "slug": "prominent-sternum",
        "name": "Prominent sternum",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/prominent-sternum"
      },
      {
        "slug": "hyperlordosis",
        "name": "Prominent swayback",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperlordosis"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "respiratory-insufficiency",
        "name": "Respiratory function loss",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-insufficiency"
      },
      {
        "slug": "scoliosis",
        "name": "Scoliosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/scoliosis"
      },
      {
        "slug": "severe-combined-immunodeficiency",
        "name": "Severe combined immunodeficiency",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-combined-immunodeficiency"
      },
      {
        "slug": "high-hypermetropia",
        "name": "Severe farsightedness",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/high-hypermetropia"
      },
      {
        "slug": "severe-short-stature",
        "name": "Severe short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/severe-short-stature"
      },
      {
        "slug": "short-finger",
        "name": "Short finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-finger"
      },
      {
        "slug": "brachydactyly",
        "name": "Short fingers or toes",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/brachydactyly"
      },
      {
        "slug": "short-foot",
        "name": "Short foot",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-foot"
      },
      {
        "slug": "short-long-bone",
        "name": "Short long bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/short-long-bone"
      },
      {
        "slug": "short-neck",
        "name": "Short neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/short-neck"
      },
      {
        "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": "obligate",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "short-toe",
        "name": "Short toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "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": "short-thorax",
        "name": "Shorter than typical length between neck and abdomen",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-thorax"
      },
      {
        "slug": "small-epiphyses",
        "name": "Small end part of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/small-epiphyses"
      },
      {
        "slug": "small-hand",
        "name": "Small hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/small-hand"
      },
      {
        "slug": "hypoplastic-ilia",
        "name": "Small wings of the pelvic girdle",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplastic-ilia"
      },
      {
        "slug": "micromelia",
        "name": "Smaller or shorter than typical limbs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/micromelia"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-facial-hair",
        "name": "Sparse facial hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/sparse-facial-hair"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-eyebrow",
        "name": "Sparse or absent eyebrows",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow"
      },
      {
        "slug": "sacral-dimple",
        "name": "Spinal dimple",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sacral-dimple"
      },
      {
        "slug": "spinal-dysraphism",
        "name": "Spinal dysraphism",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/spinal-dysraphism"
      },
      {
        "slug": "susceptibility-to-chickenpox",
        "name": "Susceptibility to chickenpox",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/susceptibility-to-chickenpox"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "diaphyseal-undertubulation",
        "name": "Thickening of shaft or central part of long bones",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/diaphyseal-undertubulation"
      },
      {
        "slug": "thoracic-kyphosis",
        "name": "Thoracic kyphosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thoracic-kyphosis"
      },
      {
        "slug": "thyroiditis",
        "name": "Thyroid gland inflammation",
        "systems": [
          "abnormality-of-the-endocrine-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/thyroiditis"
      },
      {
        "slug": "hypothyroidism",
        "name": "Underactive thyroid",
        "systems": [
          "abnormality-of-the-endocrine-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypothyroidism"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "wide-nasal-bridge",
        "name": "Wide nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/wide-nasal-bridge"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "smarcal1",
        "symbol": "SMARCAL1",
        "name": "SNF2 related chromatin remodeling annealing helicase 1",
        "shared": 2,
        "url": "https://dantelabs.com/pl/genes/smarcal1"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/adar"
      },
      {
        "slug": "aicda",
        "symbol": "AICDA",
        "name": "activation induced cytidine deaminase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/aicda"
      },
      {
        "slug": "ap3b1",
        "symbol": "AP3B1",
        "name": "adaptor related protein complex 3 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/ap3b1"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/atp6ap1"
      },
      {
        "slug": "bcl10",
        "symbol": "BCL10",
        "name": "BCL10 immune signaling adaptor",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bcl10"
      },
      {
        "slug": "bcl11b",
        "symbol": "BCL11B",
        "name": "BCL11 transcription factor B",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bcl11b"
      },
      {
        "slug": "blnk",
        "symbol": "BLNK",
        "name": "B cell linker",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/blnk"
      },
      {
        "slug": "bloc1s6",
        "symbol": "BLOC1S6",
        "name": "biogenesis of lysosomal organelles complex 1 subunit 6",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/bloc1s6"
      },
      {
        "slug": "btk",
        "symbol": "BTK",
        "name": "Bruton tyrosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/btk"
      },
      {
        "slug": "c1qa",
        "symbol": "C1QA",
        "name": "complement C1q A chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/c1qa"
      },
      {
        "slug": "c1qb",
        "symbol": "C1QB",
        "name": "complement C1q B chain",
        "shared": 1,
        "url": "https://dantelabs.com/pl/genes/c1qb"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "otherRna"
  },
  "variants": {
    "total": 19,
    "url": "https://dantelabs.com/genes/rmrp/variants",
    "items": [
      {
        "slug": "n-2to3insctctgtgaagctgaggacgtgg",
        "name": "n.2_3insCTCTGTGAAGCTGAGGACGTGG",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35658016,
        "grch37Position": 35658013,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-2to3insctctgtgaagctgaggacgtgg"
      },
      {
        "slug": "n-3to4insgaagctgaggacgtggt",
        "name": "n.3_4insGAAGCTGAGGACGTGGT",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35658015,
        "grch37Position": 35658012,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-3to4insgaagctgaggacgtggt"
      },
      {
        "slug": "n-36c-a",
        "name": "n.36C>A",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657983,
        "grch37Position": 35657980,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-36c-a"
      },
      {
        "slug": "n-36c-t",
        "name": "n.36C>T",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657983,
        "grch37Position": 35657980,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-36c-t"
      },
      {
        "slug": "n-147g-a",
        "name": "n.147G>A",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657872,
        "grch37Position": 35657869,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-147g-a"
      },
      {
        "slug": "n-181g-a",
        "name": "n.181G>A",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657838,
        "grch37Position": 35657835,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-181g-a"
      },
      {
        "slug": "n-194g-a",
        "name": "n.194G>A",
        "commonName": "193G-A",
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657825,
        "grch37Position": 35657822,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-194g-a"
      },
      {
        "slug": "n-196c-t",
        "name": "n.196C>T",
        "commonName": "195C-T",
        "symbol": "RMRP",
        "classification": "pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657823,
        "grch37Position": 35657820,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-196c-t"
      },
      {
        "slug": "n-212c-g",
        "name": "n.212C>G",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657807,
        "grch37Position": 35657804,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-212c-g"
      },
      {
        "slug": "n-219a-g",
        "name": "n.219A>G",
        "commonName": "218A-G",
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657800,
        "grch37Position": 35657797,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-219a-g"
      },
      {
        "slug": "n-221t-c",
        "name": "n.221T>C",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657798,
        "grch37Position": 35657795,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-221t-c"
      },
      {
        "slug": "n-231c-t",
        "name": "n.231C>T",
        "commonName": null,
        "symbol": "RMRP",
        "classification": "likely-pathogenic",
        "stars": 3,
        "hgvsC": null,
        "position": 35657788,
        "grch37Position": 35657785,
        "part": {
          "kind": "exon",
          "number": 1
        },
        "url": "https://dantelabs.com/genes/rmrp/variants/n-231c-t"
      },
      {
        "slug": "n-243a-c",
        "name": "n.243A>C",
        "commonName": null,
        "symbol": "RMRP",
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}