From HPO
Renal cell carcinoma- MedGen UID:
- 766
- •Concept ID:
- C0007134
- •
- Neoplastic Process
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Renal neoplasm- MedGen UID:
- 5967
- •Concept ID:
- C0022665
- •
- Neoplastic Process
The presence of a neoplasm of the kidney.
Fibrofolliculoma- MedGen UID:
- 138032
- •Concept ID:
- C0346011
- •
- Neoplastic Process
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.
Cutaneous leiomyoma- MedGen UID:
- 87533
- •Concept ID:
- C0346064
- •
- Neoplastic Process
The presence of leiomyoma of the skin.
Cutaneous leiomyosarcoma- MedGen UID:
- 87534
- •Concept ID:
- C0346067
- •
- Neoplastic Process
The presence of leiomyosarcoma of the skin.
Multiple lipomas- MedGen UID:
- 677074
- •Concept ID:
- C0745730
- •
- Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Renal cyst- MedGen UID:
- 854361
- •Concept ID:
- C3887499
- •
- Disease or Syndrome
A fluid filled sac in the kidney.
Colon cancer- MedGen UID:
- 2839
- •Concept ID:
- C0007102
- •
- Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Large intestinal polyposis- MedGen UID:
- 868164
- •Concept ID:
- C4022556
- •
- Disease or Syndrome
The presence of multiple polyps in the large intestine.
Spontaneous pneumothorax- MedGen UID:
- 57701
- •Concept ID:
- C0149781
- •
- Disease or Syndrome
Pneumothorax occurring without traumatic injury to the chest or lung.
Cystic disease of lung- MedGen UID:
- 640840
- •Concept ID:
- C0555214
- •
- Disease or Syndrome
Polycystic lung disease (PCLUD) is an autosomal recessive disorder characterized by childhood-onset exertional dyspnea and cough due to progressive airflow obstruction in the lungs. Pulmonary imaging shows diffuse lung disease with pleural and subpleural cysts and peripheral consolidations, and lung biopsy shows bronchiolitis and lymphocytosis of the terminal bronchioles, often with features of pulmonary alveolar proteinosis (PAP). Most affected individuals have recurrent respiratory infections; some have an adverse response to BCG vaccination. Additional features may include digital clubbing, allergies, and atopic dermatitis (et al., 2024).
Sebaceous hyperplasia- MedGen UID:
- 98352
- •Concept ID:
- C0406484
- •
- Disease or Syndrome
A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.
Trichodiscoma- MedGen UID:
- 352818
- •Concept ID:
- C1704237
- •
- Neoplastic Process
A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the respiratory system
- Neoplasm