{
  "url": "https://dantelabs.com/et/genes/mbtps2",
  "gene": {
    "slug": "mbtps2",
    "symbol": "MBTPS2",
    "name": "membrane bound transcription factor peptidase, site 2",
    "hgnc": "HGNC:15455",
    "summary": null,
    "location": "Xp22.12",
    "locusType": "gene with protein product",
    "aliases": [
      "S2P"
    ],
    "previousSymbols": [
      "KFSD"
    ],
    "ensemblId": "ENSG00000012174",
    "entrezId": 51360,
    "omim": [
      "300294"
    ],
    "uniprot": [
      "O43462"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "X",
      "start": 21839617,
      "end": 21885423,
      "strand": "+",
      "ensemblTranscript": "ENST00000379484.10",
      "refseqTranscript": "NM_015884.4",
      "ensemblProtein": "ENSP00000368798.5",
      "refseqProtein": "NP_056968.1",
      "exons": [
        {
          "start": 21839617,
          "end": 21839809
        },
        {
          "start": 21843170,
          "end": 21843318
        },
        {
          "start": 21845171,
          "end": 21845384
        },
        {
          "start": 21851509,
          "end": 21851612
        },
        {
          "start": 21853376,
          "end": 21853503
        },
        {
          "start": 21868467,
          "end": 21868585
        },
        {
          "start": 21869498,
          "end": 21869678
        },
        {
          "start": 21878042,
          "end": 21878136
        },
        {
          "start": 21878497,
          "end": 21878692
        },
        {
          "start": 21880897,
          "end": 21880972
        },
        {
          "start": 21882433,
          "end": 21885423
        }
      ],
      "cds": {
        "start": 21839735,
        "end": 21882655
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "X",
      "start": 21857754,
      "end": 21903542,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 21362520,
      "end": 22362519,
      "genes": [
        {
          "symbol": "CNKSR2",
          "ensemblId": "ENSG00000149970",
          "biotype": "protein_coding",
          "start": 21372801,
          "end": 21654701,
          "strand": "+",
          "slug": "cnksr2"
        },
        {
          "symbol": "KLHL34",
          "ensemblId": "ENSG00000185915",
          "biotype": "protein_coding",
          "start": 21654690,
          "end": 21658330,
          "strand": "-",
          "slug": "klhl34"
        },
        {
          "symbol": "SMPX",
          "ensemblId": "ENSG00000091482",
          "biotype": "protein_coding",
          "start": 21704788,
          "end": 21758254,
          "strand": "-",
          "slug": "smpx"
        },
        {
          "symbol": "YY2",
          "ensemblId": "ENSG00000230797",
          "biotype": "protein_coding",
          "start": 21855987,
          "end": 21858740,
          "strand": "+",
          "slug": "yy2"
        },
        {
          "symbol": "SMS",
          "ensemblId": "ENSG00000102172",
          "biotype": "protein_coding",
          "start": 21940557,
          "end": 21994837,
          "strand": "+",
          "slug": "sms"
        },
        {
          "symbol": "PHEX",
          "ensemblId": "ENSG00000102174",
          "biotype": "protein_coding",
          "start": 22032293,
          "end": 22494713,
          "strand": "+",
          "slug": "phex"
        },
        {
          "symbol": "CBLL2",
          "ensemblId": "ENSG00000175809",
          "biotype": "protein_coding",
          "start": 22272913,
          "end": 22274461,
          "strand": "+",
          "slug": "cbll2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "hereditary-palmoplantar-keratodermas",
        "name": "Erbelised palmoplantaarsed keratodermiad ja pachyonychia congenita",
        "diseases": [
          {
            "mondoId": "MONDO:0019272",
            "name": "Erbelised palmoplantaarne keratoderma",
            "genes": 35,
            "inheritance": null,
            "description": "Peopesade ja jalatallade pärilik paksenemine, sealhulgas pachyonychia congenita, mal de Meleda, Nagashima tüüpi ja Bothnia keratodermad, keratiit-ihtüoos-kurtuse sündroom ning CTSC-ga seotud Papillon-Lefèvre'i ja Haim-Munki sündroom.",
            "management": "Diagnoos suunab jalgade hooldust ja valu ravi; CTSC-ga seotud vormide puhul kaitseb varajane hambaravi hambaid ning GJB2-ga seotud vormide puhul on soovitatav kuulmise kontroll.",
            "evidence": {
              "gencc": [
                "G2P"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/hereditary-palmoplantar-keratodermas"
      },
      {
        "slug": "ifap-syndrome-mbtps2",
        "name": "IFAP-sündroom (MBTPS2)",
        "diseases": [
          {
            "mondoId": "MONDO:0100213",
            "name": "IFAP-sündroom (MBTPS2)",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Põhjustatud muutustest geenis MBTPS2 X-kromosoomil, mis aktiveerib valke, mis reguleerivad kolesterooli ja raku stressivastust. Peamiselt haigestuvad poisid.",
            "management": "Toetav naha- ja silmahooldus ning vajadusel arengutoetus. Emad võivad olla kandjad, seega on saadaval kandjatestimine naissugulastele ja geneetiline nõustamine.",
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "ClinGen",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/ifap-syndrome-mbtps2"
      },
      {
        "slug": "osteogenesis-imperfecta",
        "name": "Osteogenesis Imperfecta",
        "diseases": [
          {
            "mondoId": "MONDO:0019019",
            "name": "Osteogenesis Imperfecta",
            "genes": 34,
            "inheritance": null,
            "description": "Pärilike sidekoehaiguste rühm, mis põhjustab habraseid luid, mis murduvad kergesti; sageli kaasnevad sinised skleerad, kuulmiskaotus ja hambaprobleemid.",
            "management": "Tsüklilised intravenoossed bisfosfonaadid (pamidronaat, zoledronaat); pikkade luude ortopeediline vardastamine; füsioteraapia; denosumab (kasutusel lastel esineva OI korral); romosozumab (väljatöötamisel); kuulmise jälgimine; hambaravi dentinogenesis imperfecta korral",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": []
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/et/conditions/osteogenesis-imperfecta"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormality-of-the-dentition",
        "name": "Abnormal dentition",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-dentition"
      },
      {
        "slug": "abnormal-eyelash-morphology",
        "name": "Abnormal eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-eyelash-morphology"
      },
      {
        "slug": "abnormal-fingernail-morphology",
        "name": "Abnormal fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology"
      },
      {
        "slug": "abnormal-nasolacrimal-system-morphology",
        "name": "Abnormal nasolacrimal system morphology",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-nasolacrimal-system-morphology"
      },
      {
        "slug": "abnormal-brain-morphology",
        "name": "Abnormal shape of brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-brain-morphology"
      },
      {
        "slug": "abnormal-pelvis-bone-morphology",
        "name": "Abnormal shape of pelvis bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-pelvis-bone-morphology"
      },
      {
        "slug": "abnormal-dental-enamel-morphology",
        "name": "Abnormal tooth enamel",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-dental-enamel-morphology"
      },
      {
        "slug": "abnormal-vertebral-morphology",
        "name": "Abnormal vertebral morphology",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-vertebral-morphology"
      },
      {
        "slug": "abnormal-oral-mucosa-morphology",
        "name": "Abnormality of lining of mouth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-oral-mucosa-morphology"
      },
      {
        "slug": "abnormality-of-temperature-regulation",
        "name": "Abnormality of temperature regulation",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-temperature-regulation"
      },
      {
        "slug": "abnormal-eyelid-morphology",
        "name": "Abnormality of the eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-eyelid-morphology"
      },
      {
        "slug": "abnormal-gingiva-morphology",
        "name": "Abnormality of the gums",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-gingiva-morphology"
      },
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "abnormality-of-the-hand",
        "name": "Abnormality of the hand",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-hand"
      },
      {
        "slug": "abnormality-of-the-kidney",
        "name": "Abnormality of the kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-kidney"
      },
      {
        "slug": "abnormal-nail-morphology",
        "name": "Abnormality of the nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-nail-morphology"
      },
      {
        "slug": "abnormality-of-the-tongue",
        "name": "Abnormality of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-tongue"
      },
      {
        "slug": "abnormality-of-the-upper-urinary-tract",
        "name": "Abnormality of the upper urinary tract",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-upper-urinary-tract"
      },
      {
        "slug": "abnormality-of-the-vertebral-column",
        "name": "Abnormality of the vertebral column",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-vertebral-column"
      },
      {
        "slug": "microphthalmia",
        "name": "Abnormally small eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/microphthalmia"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "absent-eyebrow",
        "name": "Absent eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/absent-eyebrow"
      },
      {
        "slug": "absent-eyelashes",
        "name": "Absent eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/absent-eyelashes"
      },
      {
        "slug": "renal-agenesis",
        "name": "Absent kidney",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/renal-agenesis"
      },
      {
        "slug": "unilateral-renal-agenesis",
        "name": "Absent kidney on one side",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/unilateral-renal-agenesis"
      },
      {
        "slug": "absent-septum-pellucidum",
        "name": "Absent septum pellucidum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-septum-pellucidum"
      },
      {
        "slug": "agenesis-of-corpus-callosum",
        "name": "Agenesis of corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/agenesis-of-corpus-callosum"
      },
      {
        "slug": "alopecia-totalis",
        "name": "Alopecia totalis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/alopecia-totalis"
      },
      {
        "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": "occasional",
        "url": "https://dantelabs.com/traits/atrial-septal-defect"
      },
      {
        "slug": "ankylosis",
        "name": "Ankylosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ankylosis"
      },
      {
        "slug": "astigmatism",
        "name": "Astigmatism",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/astigmatism"
      },
      {
        "slug": "plagiocephaly",
        "name": "Asymmetry of the posterior head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/plagiocephaly"
      },
      {
        "slug": "atrichia",
        "name": "Atrichia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/atrichia"
      },
      {
        "slug": "nail-dysplasia",
        "name": "Atypical nail growth",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/nail-dysplasia"
      },
      {
        "slug": "atopic-dermatitis",
        "name": "Baby eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/atopic-dermatitis"
      },
      {
        "slug": "convex-nasal-ridge",
        "name": "Beaked nose",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/convex-nasal-ridge"
      },
      {
        "slug": "biconcave-vertebral-bodies",
        "name": "Biconcave vertebral bodies",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/biconcave-vertebral-bodies"
      },
      {
        "slug": "choanal-atresia",
        "name": "Blockage of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choanal-atresia"
      },
      {
        "slug": "blue-sclerae",
        "name": "Blue outer white part of eyeball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blue-sclerae"
      },
      {
        "slug": "facial-erythema",
        "name": "Blushed cheeks",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/facial-erythema"
      },
      {
        "slug": "bowing-of-the-legs",
        "name": "Bowed legs",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/bowing-of-the-legs"
      },
      {
        "slug": "bowing-of-the-arm",
        "name": "Bowing of the arm",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/bowing-of-the-arm"
      },
      {
        "slug": "brain-atrophy",
        "name": "Brain degeneration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/brain-atrophy"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "butterfly-vertebrae",
        "name": "Butterfly vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/butterfly-vertebrae"
      },
      {
        "slug": "melanoma",
        "name": "Cancer of skin pigment cells",
        "systems": [
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/melanoma"
      },
      {
        "slug": "iris-coloboma",
        "name": "Cat eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-coloboma"
      },
      {
        "slug": "cerebral-cortical-hemiatrophy",
        "name": "Cerebral cortical hemiatrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-cortical-hemiatrophy"
      },
      {
        "slug": "chiari-malformation",
        "name": "Chiari malformation",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chiari-malformation"
      },
      {
        "slug": "keratosis-pilaris",
        "name": "Chicken skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratosis-pilaris"
      },
      {
        "slug": "ectrodactyly",
        "name": "Cleft hand",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ectrodactyly"
      },
      {
        "slug": "cleft-palate",
        "name": "Cleft palate",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cleft-palate"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "corneal-dystrophy",
        "name": "Corneal dystrophy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-dystrophy"
      },
      {
        "slug": "keratitis",
        "name": "Corneal inflammation",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/keratitis"
      },
      {
        "slug": "corneal-opacity",
        "name": "Corneal opacity",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-opacity"
      },
      {
        "slug": "skin-fissure",
        "name": "Cracked skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-fissure"
      },
      {
        "slug": "corneal-erosion",
        "name": "Damage to outer layer of the cornea of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/corneal-erosion"
      },
      {
        "slug": "cerebral-cortical-atrophy",
        "name": "Decrease in size of the outer layer of the brain due to loss of brain cells",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebral-cortical-atrophy"
      },
      {
        "slug": "hypohidrosis",
        "name": "Decreased ability to sweat",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypohidrosis"
      },
      {
        "slug": "immunodeficiency",
        "name": "Decreased immune function",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/immunodeficiency"
      },
      {
        "slug": "decreased-testicular-size",
        "name": "Decreased testicular size",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/decreased-testicular-size"
      },
      {
        "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": "dementia",
        "name": "Dementia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dementia"
      },
      {
        "slug": "carious-teeth",
        "name": "Dental cavities",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/carious-teeth"
      },
      {
        "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": "ptosis",
        "name": "Drooping upper eyelid",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ptosis"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "ectodermal-dysplasia",
        "name": "Ectodermal dysplasia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/ectodermal-dysplasia"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "aganglionic-megacolon",
        "name": "Enlarged colon lacking nerve cells",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/aganglionic-megacolon"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "ectropion",
        "name": "Everted eyelid",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/ectropion"
      },
      {
        "slug": "palmoplantar-hyperhidrosis",
        "name": "Excessive sweating of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-hyperhidrosis"
      },
      {
        "slug": "postaxial-hand-polydactyly",
        "name": "Extra little finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/postaxial-hand-polydactyly"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "hypodontia",
        "name": "Failure of development of between one and six teeth",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypodontia"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "feeding-difficulties",
        "name": "Feeding difficulties",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/feeding-difficulties"
      },
      {
        "slug": "platyspondyly",
        "name": "Flattened vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/platyspondyly"
      },
      {
        "slug": "follicular-hyperkeratosis",
        "name": "Follicular hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/follicular-hyperkeratosis"
      },
      {
        "slug": "folliculitis",
        "name": "Folliculitis",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/folliculitis"
      },
      {
        "slug": "frontal-bossing",
        "name": "Frontal bossing",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/frontal-bossing"
      },
      {
        "slug": "pectus-excavatum",
        "name": "Funnel chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pectus-excavatum"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "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": "alopecia",
        "name": "Hair loss",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/alopecia"
      },
      {
        "slug": "scarring-alopecia-of-scalp",
        "name": "Hair loss on scalp from scarring condition",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp"
      },
      {
        "slug": "hearing-impairment",
        "name": "Hearing impairment",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hearing-impairment"
      },
      {
        "slug": "heat-intolerance",
        "name": "Heat intolerance",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/heat-intolerance"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "hip-dislocation",
        "name": "Hip dislocation",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hip-dislocation"
      },
      {
        "slug": "urticaria",
        "name": "Hives",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urticaria"
      },
      {
        "slug": "kyphosis",
        "name": "Hunched back",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/kyphosis"
      },
      {
        "slug": "hydromyelia",
        "name": "Hydromyelia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydromyelia"
      },
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hydroureter",
        "name": "Hydroureter",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hydroureter"
      },
      {
        "slug": "hyperconvex-fingernails",
        "name": "Hyperconvex fingernails",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperconvex-fingernails"
      },
      {
        "slug": "hyperkeratosis",
        "name": "Hyperkeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkeratosis"
      },
      {
        "slug": "hyperkeratotic-papule",
        "name": "Hyperkeratotic papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hyperkeratotic-papule"
      },
      {
        "slug": "hypospadias",
        "name": "Hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypospadias"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "ichthyosis-follicularis",
        "name": "Ichthyosis follicularis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ichthyosis-follicularis"
      },
      {
        "slug": "blepharitis",
        "name": "Inflammation of eyelids",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blepharitis"
      },
      {
        "slug": "cheilitis",
        "name": "Inflammation of the lips",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cheilitis"
      },
      {
        "slug": "scleritis",
        "name": "Inflammation of the outer white part of the eye",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/scleritis"
      },
      {
        "slug": "episcleritis",
        "name": "Inflammation of the thin layer on top of the white part of eye",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/episcleritis"
      },
      {
        "slug": "inguinal-hernia",
        "name": "Inguinal hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/inguinal-hernia"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "severe-intellectual-disability",
        "name": "Intellectual disability, severe",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/severe-intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "anhidrosis",
        "name": "Lack of sweating",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anhidrosis"
      },
      {
        "slug": "macrotia",
        "name": "Large ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/macrotia"
      },
      {
        "slug": "developmental-regression",
        "name": "Loss of developmental milestones",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/developmental-regression"
      },
      {
        "slug": "oligohydramnios",
        "name": "Low levels of amniotic fluid",
        "systems": [
          "abnormality-of-prenatal-development-or-birth"
        ],
        "url": "https://dantelabs.com/traits/oligohydramnios"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "low-set-ears",
        "name": "Low-set ears",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/low-set-ears"
      },
      {
        "slug": "neoplasm-of-the-lung",
        "name": "Lung cancer",
        "systems": [
          "abnormality-of-the-respiratory-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-lung"
      },
      {
        "slug": "mental-deterioration",
        "name": "Mental deterioration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/mental-deterioration"
      },
      {
        "slug": "hemivertebrae",
        "name": "Missing part of vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hemivertebrae"
      },
      {
        "slug": "motor-delay",
        "name": "Motor delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/motor-delay"
      },
      {
        "slug": "multicystic-kidney-dysplasia",
        "name": "Multicystic kidney dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/multicystic-kidney-dysplasia"
      },
      {
        "slug": "multiple-prenatal-fractures",
        "name": "Multiple fractures present at birth",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/multiple-prenatal-fractures"
      },
      {
        "slug": "choanal-stenosis",
        "name": "Narrowing of the rear opening of the nasal cavity",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/choanal-stenosis"
      },
      {
        "slug": "corneal-neovascularization",
        "name": "New blood vessel formation in cornea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/corneal-neovascularization"
      },
      {
        "slug": "oligodactyly",
        "name": "Oligodactyly",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oligodactyly"
      },
      {
        "slug": "olivopontocerebellar-atrophy",
        "name": "Olivopontocerebellar atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/olivopontocerebellar-atrophy"
      },
      {
        "slug": "omphalocele",
        "name": "Omphalocele",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/omphalocele"
      },
      {
        "slug": "opacification-of-the-corneal-stroma",
        "name": "Opacification of the corneal stroma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "optic-nerve-hypoplasia",
        "name": "Optic nerve hypoplasia",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/optic-nerve-hypoplasia"
      },
      {
        "slug": "osteopenia",
        "name": "Osteopenia",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/osteopenia"
      },
      {
        "slug": "papule",
        "name": "Papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/papule"
      },
      {
        "slug": "parakeratosis",
        "name": "Parakeratosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/parakeratosis"
      },
      {
        "slug": "perianal-erythema",
        "name": "Perianal erythema",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/perianal-erythema"
      },
      {
        "slug": "perifollicular-fibrosis",
        "name": "Perifollicular fibrosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/perifollicular-fibrosis"
      },
      {
        "slug": "periungual-erythema",
        "name": "Periungual erythema",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/periungual-erythema"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "pectus-carinatum",
        "name": "Pigeon chest",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pectus-carinatum"
      },
      {
        "slug": "conjunctivitis",
        "name": "Pink eye",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/conjunctivitis"
      },
      {
        "slug": "dystrophic-fingernails",
        "name": "Poor fingernail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dystrophic-fingernails"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "posterior-blepharitis",
        "name": "Posterior blepharitis",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/posterior-blepharitis"
      },
      {
        "slug": "intrauterine-growth-retardation",
        "name": "Prenatal growth deficiency",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/intrauterine-growth-retardation"
      },
      {
        "slug": "progressive-alopecia",
        "name": "Progressive alopecia",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/progressive-alopecia"
      },
      {
        "slug": "protruding-ear",
        "name": "Prominent ear",
        "systems": [
          "abnormality-of-the-ear"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/protruding-ear"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "recurrent-corneal-erosions",
        "name": "Recurrent breakdown of clear protective layer of eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/recurrent-corneal-erosions"
      },
      {
        "slug": "recurrent-upper-respiratory-tract-infections",
        "name": "Recurrent colds",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-upper-respiratory-tract-infections"
      },
      {
        "slug": "recurrent-fractures",
        "name": "Recurrent fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fractures"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "recurrent-skin-infections",
        "name": "Recurrent skin infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/recurrent-skin-infections"
      },
      {
        "slug": "erythroderma",
        "name": "Red scaly skin caused by inflammatory skin disease",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/erythroderma"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "renal-dysplasia",
        "name": "Renal dysplasia",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/renal-dysplasia"
      },
      {
        "slug": "scaling-skin",
        "name": "Scaling skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/scaling-skin"
      },
      {
        "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": "frequent",
        "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment"
      },
      {
        "slug": "severe-short-stature",
        "name": "Severe short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/severe-short-stature"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "cerebellar-hypoplasia",
        "name": "Small cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cerebellar-hypoplasia"
      },
      {
        "slug": "unilateral-chest-hypoplasia",
        "name": "Small chest on one side",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/unilateral-chest-hypoplasia"
      },
      {
        "slug": "hypoplastic-fingernail",
        "name": "Small fingernail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplastic-fingernail"
      },
      {
        "slug": "renal-hypoplasia",
        "name": "Small kidneys",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/renal-hypoplasia"
      },
      {
        "slug": "sparse-eyebrow",
        "name": "Sparse eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-eyebrow"
      },
      {
        "slug": "sparse-eyelashes",
        "name": "Sparse eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-eyelashes"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "sparse-scalp-hair",
        "name": "Sparse scalp hair",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/sparse-scalp-hair"
      },
      {
        "slug": "specific-learning-disability",
        "name": "Specific learning disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/specific-learning-disability"
      },
      {
        "slug": "subcortical-cerebral-atrophy",
        "name": "Subcortical cerebral atrophy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subcortical-cerebral-atrophy"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "subungual-hyperkeratosis",
        "name": "Thickened, discolored skin under nail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/subungual-hyperkeratosis"
      },
      {
        "slug": "palmoplantar-keratoderma",
        "name": "Thickening of palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/palmoplantar-keratoderma"
      },
      {
        "slug": "palmoplantar-hyperkeratosis",
        "name": "Thickening of the outer layer of the skin of the palms and soles",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis"
      },
      {
        "slug": "epidermal-acanthosis",
        "name": "Thickening of upper layer of skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/epidermal-acanthosis"
      },
      {
        "slug": "thin-eyebrow",
        "name": "Thin eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-eyebrow"
      },
      {
        "slug": "thin-fingernail",
        "name": "Thin fingernail",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thin-fingernail"
      },
      {
        "slug": "hydrocephalus",
        "name": "Too much cerebrospinal fluid in the brain",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hydrocephalus"
      },
      {
        "slug": "umbilical-hernia",
        "name": "Umbilical hernia",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/umbilical-hernia"
      },
      {
        "slug": "hypoplasia-of-the-bladder",
        "name": "Underdeveloped bladder",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-bladder"
      },
      {
        "slug": "hypoplasia-of-the-corpus-callosum",
        "name": "Underdevelopment of part of brain called corpus callosum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-corpus-callosum"
      },
      {
        "slug": "cryptorchidism",
        "name": "Undescended testes",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cryptorchidism"
      },
      {
        "slug": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/uveitis"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      },
      {
        "slug": "vesicoureteral-reflux",
        "name": "Vesicoureteral reflux",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/vesicoureteral-reflux"
      },
      {
        "slug": "vertebral-wedging",
        "name": "Wedge-shaped vertebrae",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/vertebral-wedging"
      }
    ],
    "related": [
      {
        "slug": "aagab",
        "symbol": "AAGAB",
        "name": "alpha and gamma adaptin binding protein",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/aagab"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "name": "anoctamin 5",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ano5"
      },
      {
        "slug": "ap1b1",
        "symbol": "AP1B1",
        "name": "adaptor related protein complex 1 subunit beta 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ap1b1"
      },
      {
        "slug": "aqp5",
        "symbol": "AQP5",
        "name": "aquaporin 5",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/aqp5"
      },
      {
        "slug": "atp6v0a2",
        "symbol": "ATP6V0A2",
        "name": "ATPase H+ transporting V0 subunit a2",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/atp6v0a2"
      },
      {
        "slug": "bmp1",
        "symbol": "BMP1",
        "name": "bone morphogenetic protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/bmp1"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "name": "collagen type I alpha 1 chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/col1a1"
      },
      {
        "slug": "col1a2",
        "symbol": "COL1A2",
        "name": "collagen type I alpha 2 chain",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/col1a2"
      },
      {
        "slug": "creb3l1",
        "symbol": "CREB3L1",
        "name": "cAMP responsive element binding protein 3 like 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/creb3l1"
      },
      {
        "slug": "crtap",
        "symbol": "CRTAP",
        "name": "cartilage associated protein",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/crtap"
      },
      {
        "slug": "ctsc",
        "symbol": "CTSC",
        "name": "cathepsin C",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/ctsc"
      },
      {
        "slug": "dsg1",
        "symbol": "DSG1",
        "name": "desmoglein 1",
        "shared": 1,
        "url": "https://dantelabs.com/et/genes/dsg1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.18-8b139e39",
      "panel": "2026-10-18",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}