{
  "id": 19474,
  "label": "acromesomelic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019696",
  "properties": {
    "xrefs": [
      "DOID:0080049",
      "GARD:0000006",
      "MEDGEN:1710812",
      "MESH:C535658",
      "NORD:724",
      "OMIMPS:602875",
      "Orphanet:93437",
      "UMLS:C5235036",
      "icd11.foundation:2002361676"
    ],
    "synonyms": [
      "acromesomelic dwarfism"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    }
  ],
  "children": [
    {
      "id": 8624,
      "label": "Osebold-Remondini syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19474,
        20260
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110968",
          "GARD:0000983",
          "MEDGEN:350598",
          "MESH:C537092",
          "OMIM:112910",
          "Orphanet:93382",
          "SCTID:715722003",
          "UMLS:C1862130"
        ],
        "synonyms": [
          "BDA6",
          "Osebold-Remondini syndrome",
          "brachydactyly type A6",
          "brachydactyly, type A6",
          "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities",
          "Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities",
          "OSEBOLD-Remondini syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007219"
    },
    {
      "id": 9976,
      "label": "acromesomelic dysplasia 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        19474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080052",
          "GARD:0001300",
          "MEDGEN:75557",
          "NANDO:2201345",
          "NANDO:2201346",
          "NCIT:C3816",
          "OMIM:200700",
          "Orphanet:2098",
          "UMLS:C0265260"
        ],
        "synonyms": [
          "GREBE chondrodysplasia",
          "Grebe chondrodysplasia",
          "Grebe dysplasia",
          "Langer-Saldino achondrogenesis",
          "acromesomelic dysplasia 2A",
          "acromesomelic dysplasia, Grebe type",
          "chondrodysplasia, Grebe type",
          "type II achondrogenesis",
          "AMDG",
          "Brazilian achondrogenesis",
          "Grebe syndrome",
          "achondrogenesis type II (formerly)",
          "achondrogenesis, Brazilian",
          "achondrogenesis, type II",
          "achondrogenesis, type II, formerly",
          "hypochondrogenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008703"
    },
    {
      "id": 9990,
      "label": "acromesomelic dysplasia 2C, Hunter-Thompson type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080051",
          "GARD:0000506",
          "MEDGEN:419681",
          "OMIM:201250",
          "Orphanet:968",
          "UMLS:C2930970"
        ],
        "synonyms": [
          "acromesomelic dwarfism",
          "acromesomelic dysplasia 2C, Hunter-Thompson type",
          "acromesomelic dysplasia, Hunter-Thompson type",
          "AMDH",
          "acromesomelic dysplasia Hunter Thompson type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008717"
    },
    {
      "id": 10474,
      "label": "acromesomelic dysplasia 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        18362,
        18956,
        19474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050790",
          "GARD:0009879",
          "MEDGEN:346432",
          "MESH:C537931",
          "OMIM:228900",
          "Orphanet:2639",
          "SCTID:715474004",
          "UMLS:C1856738"
        ],
        "synonyms": [
          "Du Pan syndrome",
          "acromesomelic dysplasia 2B",
          "fibular hypoplasia and complex brachydactyly",
          "fibular aplasia-complex brachydactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009231"
    },
    {
      "id": 12395,
      "label": "acromesomelic dysplasia 1, Maroteaux type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080050",
          "GARD:0000507",
          "MEDGEN:355199",
          "MESH:C535661",
          "OMIM:602875",
          "Orphanet:40",
          "SCTID:718559000",
          "UMLS:C1864356"
        ],
        "synonyms": [
          "acromesomelic dysplasia 1, Maroteaux type",
          "acromesomelic dysplasia, Maroteaux type",
          "AMDM",
          "St. Helena dysplasia",
          "acromesomelic dwarfism Maroteux type",
          "acromesomelic dysplasia Maroteaux type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011275"
    },
    {
      "id": 13333,
      "label": "acromesomelic dysplasia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081237",
          "GARD:0010077",
          "MEDGEN:904735",
          "MESH:C537913",
          "OMIM:609441",
          "UMLS:C4225404"
        ],
        "synonyms": [
          "AMDD",
          "acromesomelic dysplasia 3",
          "acromesomelic dysplasia, Demirhan type",
          "chondrodysplasia, acromesomelic, with or without genital anomalies",
          "chondrodysplasia acromesomelic with genital anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012274"
    },
    {
      "id": 20754,
      "label": "acromesomelic dysplasia, Campailla Martinelli type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000505",
          "MEDGEN:418955",
          "MESH:C535659",
          "UMLS:C2930969"
        ],
        "synonyms": [
          "acromesomelic dysplasia Campailla Martinelli type",
          "mesomelic dwarfism Campailla-Martinelli type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0021805"
    },
    {
      "id": 21980,
      "label": "acromesomelic dysplasia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19474
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081238",
          "GARD:0025602",
          "MEDGEN:1794238",
          "OMIM:619636",
          "UMLS:C5562028"
        ],
        "synonyms": [
          "AMD4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030553"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}