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Items: 15

1.

Pneumothorax

Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. [from HPO]

MedGen UID:
19365
Concept ID:
C0032326
Disease or Syndrome
2.

Fibrofolliculoma

Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. [from HPO]

MedGen UID:
851145
Concept ID:
CN231305
Finding
3.

Renal neoplasm

The presence of a neoplasm of the kidney. [from HPO]

MedGen UID:
506302
Concept ID:
CN008586
Finding
4.

Spontaneous pneumothorax

Pneumothorax occurring without traumatic injury to the chest or lung. [from HPO]

MedGen UID:
505108
Concept ID:
CN001909
Finding
5.

Pneumothorax

MedGen UID:
409583
Concept ID:
C1963215
Finding
6.

Pneumothorax, primary spontaneous

Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490). [from OMIM]

MedGen UID:
357445
Concept ID:
C1868193
Disease or Syndrome
7.

Hip dysplasia, beukes type

Beukes hip dysplasia is characterized by severe progressive degenerative osteoarthritis of the hip joint in early adulthood, with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. Symptoms of hip joint discomfort usually develop in infancy or later childhood, but may present as late as the fourth decade. Phenotypic expression is age-related and variable in severity; penetrance is incomplete and has been estimated to be 80%. The earliest primary radiographic features of BHD include bilateral shortening and broadening of the femoral neck, delayed appearance of the secondary ossification center, coxa vara, displacement of the femoral head in the acetabulum, and overgrowth of the greater trochanters. After onset of symptoms, the characteristic signs of osteoarthritis develop, including bone sclerosis, cyst formation, and narrowing of the joint space, with rapid deterioration of the joint (summary by Watson et al., 2015). [from OMIM]

MedGen UID:
333593
Concept ID:
C1840572
Disease or Syndrome
8.

Multiple fibrofolliculomas

The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, and acrochordons), pulmonary cysts/history of pneumothorax, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear during the third and fourth decades of life and typically increase in size and number with age. Lung cysts are mostly bilateral and multifocal; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Individuals with BHDS are at a sevenfold increased risk for renal tumors that are typically bilateral and multifocal and usually slow growing; median age of tumor diagnosis is 48 years. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (so-called oncocytic hybrid tumor) and chromophobe histologic cell types. Some families have renal tumor and/or autosomal dominant spontaneous pneumothorax without cutaneous manifestations. [from GeneReviews]

MedGen UID:
91070
Concept ID:
C0346010
Disease or Syndrome
9.

Spontaneous pneumothorax

Pneumothorax occurring without traumatic injury to the chest or lung. [from HPO]

MedGen UID:
57701
Concept ID:
C0149781
Disease or Syndrome
10.

Fibrous tissue neoplasm

Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue. [from MeSH]

MedGen UID:
60198
Concept ID:
C0206643
Neoplastic Process
11.

Genitourinary neoplasm

A tumor (abnormal growth of tissue) of the genitourinary system. [from HPO]

MedGen UID:
22583
Concept ID:
C0042065
Neoplastic Process
12.

Nephropathy

Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. . Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:. -Cancer. -Cysts. -Stones. -Infections. Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
13.

Salivary gland type cancer of the breast

Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma (see this term), mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma. [from ORDO]

MedGen UID:
798610
Concept ID:
CN201040
Disease or Syndrome
14.

Splenic cyst

MedGen UID:
452367
Concept ID:
C0272407
Disease or Syndrome
15.

Lung fibroma

The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule. [from HPO]

MedGen UID:
272803
Concept ID:
C1334444
Neoplastic Process
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