{
  "id": 19031,
  "label": "androgen insensitivity syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019154",
  "properties": {
    "xrefs": [
      "DOID:4674",
      "GARD:0005803",
      "ICD10CM:E34.5",
      "ICD9:259.5",
      "ICD9:259.51",
      "ICD9:259.8",
      "MEDGEN:21102",
      "MESH:D013734",
      "MedDRA:10056292",
      "NANDO:2200391",
      "NCIT:C27226",
      "OMIM:300068",
      "Orphanet:754",
      "SCTID:12313004",
      "UMLS:C0039585"
    ],
    "synonyms": [
      "AIS",
      "Goldberg-Maxwell syndrome",
      "Morris syndrome",
      "androgen insensitivity syndrome",
      "androgen insensitivity, X-linked recessive",
      "androgen resistance syndrome",
      "testicular feminization syndrome",
      "AR deficiency",
      "DHTR deficiency",
      "Feminisation - testicular",
      "androgen receptor deficiency",
      "dihydrotestosterone receptor deficiency",
      "testicular feminization syndrome (formerly)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008538",
          "MEDGEN:414114",
          "MESH:D058490",
          "NANDO:2200393",
          "NCIT:C127171",
          "Orphanet:98085",
          "SCTID:8234004",
          "UMLS:C2751824"
        ],
        "synonyms": [
          "46,XY DSD",
          "46,XY differences of Sex development",
          "46,XY disorders of Sex development",
          "46, XY DSD",
          "46, XY disorders of sexual development",
          "46, XY female",
          "XY female"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Differences of sex development in individuals with 46,XY karyotype."
      },
      "child_count": 24,
      "reference_id": "MONDO:0020040"
    }
  ],
  "children": [
    {
      "id": 11861,
      "label": "partial androgen insensitivity syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19031
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080776",
          "GARD:0005692",
          "GTR:AN0098649",
          "GTR:AN0098650",
          "GTR:AN0098651",
          "GTR:AN0098652",
          "GTR:AN0098654",
          "GTR:AN0098655",
          "ICD10CM:E34.52",
          "MEDGEN:82785",
          "MESH:C538435",
          "NCIT:C120192",
          "NORD:771",
          "OMIM:307300",
          "OMIM:312100",
          "OMIM:312300",
          "Orphanet:90797",
          "SCTID:122811000119101",
          "UMLS:C0268301"
        ],
        "synonyms": [
          "PAIS",
          "Reifenstein syndrome",
          "Reifenstein syndrome, partial",
          "androgen insensitivity, partial",
          "androgen insensitivity, partial, with or without breast cancer",
          "androgen insensitivity, partial, with or without breast cancer, X-linked recessive",
          "familial incomplete Male pseudohermaphroditism, type 1",
          "pais",
          "partial androgen resistance syndrome",
          "pseudohermaphroditism, incomplete male, type I",
          "androgen insensitivity syndrome, partial",
          "androgen resistance syndrome, partial",
          "incomplete male pseudohermaphroditism",
          "type I familial incomplete male pseudohermaphroditism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010720"
    },
    {
      "id": 20274,
      "label": "complete androgen insensitivity syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19031
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080775",
          "GARD:0010597",
          "ICD10CM:E34.51",
          "MEDGEN:183188",
          "NCIT:C120191",
          "Orphanet:99429",
          "SCTID:368851000119102",
          "UMLS:C0936016"
        ],
        "synonyms": [
          "CAIS",
          "complete androgen resistance syndrome",
          "androgen insensitivity syndrome, complete"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021023"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 19710,
      "label": "46,XY disorder of sex development"
    }
  ]
}