From HPO
Leukemia- MedGen UID:
- 9725
- •Concept ID:
- C0023418
- •
- Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Lymphoma- MedGen UID:
- 44223
- •Concept ID:
- C0024299
- •
- Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Osteosarcoma- MedGen UID:
- 10501
- •Concept ID:
- C0029463
- •
- Neoplastic Process
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Retinoblastoma- MedGen UID:
- 20552
- •Concept ID:
- C0035335
- •
- Neoplastic Process
Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors.
Ewing sarcoma- MedGen UID:
- 107816
- •Concept ID:
- C0553580
- •
- Neoplastic Process
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.\n\nEwing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.\n\nIt is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.
Pinealoma- MedGen UID:
- 19315
- •Concept ID:
- C0031941
- •
- Neoplastic Process
A neoplasm of the pineal gland.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Vitreous hemorrhage- MedGen UID:
- 12119
- •Concept ID:
- C0042909
- •
- Pathologic Function
Bleeding within the vitreous compartment of the eye.
Leukocoria- MedGen UID:
- 57540
- •Concept ID:
- C0152458
- •
- Disease or Syndrome
An abnormal white reflection from the pupil rather than the usual black reflection.
Vitritis- MedGen UID:
- 68620
- •Concept ID:
- C0235812
- •
- Disease or Syndrome
Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.
Retinal calcification- MedGen UID:
- 357948
- •Concept ID:
- C1867289
- •
- Finding
Deposition of calcium salts in the retina.
- Abnormality of head or neck
- Abnormality of the eye
- Abnormality of the nervous system
- Neoplasm