From HPO
Neoplasm- MedGen UID:
- 10294
- •Concept ID:
- C0027651
- •
- Neoplastic Process
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
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.
Growth abnormality- MedGen UID:
- 808205
- •Concept ID:
- C0262361
- •
- Finding
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Abnormal pinna morphology- MedGen UID:
- 167800
- •Concept ID:
- C0857379
- •
- Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Abnormality of blood and blood-forming tissues- MedGen UID:
- 163092
- •Concept ID:
- C0850715
- •
- Finding
An abnormality of the hematopoietic system.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Round face- MedGen UID:
- 116087
- •Concept ID:
- C0239479
- •
- Finding
The facial appearance is more circular than usual as viewed from the front.
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Abnormal hair morphology- MedGen UID:
- 56381
- •Concept ID:
- C0157733
- •
- Finding
An abnormality of the hair.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the ear
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Growth abnormality
- Neoplasm