{
  "id": 11861,
  "label": "partial androgen insensitivity syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010720",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19031,
      "label": "androgen insensitivity syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19710
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019154"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19031,
      "label": "androgen insensitivity syndrome"
    }
  ]
}