From HPO
Fibrosarcoma- MedGen UID:
- 5178
- •Concept ID:
- C0016057
- •
- Neoplastic Process
A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle 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.
Histiocytoma- MedGen UID:
- 267592
- •Concept ID:
- C1509147
- •
- Neoplastic Process
A neoplasm containing histiocytes.
Limb muscle weakness- MedGen UID:
- 107956
- •Concept ID:
- C0587246
- •
- Finding
Reduced strength and weakness of the muscles of the arms and legs.
Limb-girdle muscle weakness- MedGen UID:
- 347625
- •Concept ID:
- C1858127
- •
- Finding
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.
Pathologic fracture- MedGen UID:
- 42095
- •Concept ID:
- C0016663
- •
- Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Fractures of the long bones- MedGen UID:
- 66802
- •Concept ID:
- C0240231
- •
- Finding
An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Diaphyseal cortical sclerosis- MedGen UID:
- 322263
- •Concept ID:
- C1833739
- •
- Finding
An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Metaphyseal striations- MedGen UID:
- 376512
- •Concept ID:
- C1849081
- •
- Finding
Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).
Patchy osteosclerosis- MedGen UID:
- 383784
- •Concept ID:
- C1855845
- •
- Finding
Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Stenosis of the medullary cavity of the long bones- MedGen UID:
- 867788
- •Concept ID:
- C4022179
- •
- Disease or Syndrome
Bowing of the legs- MedGen UID:
- 1807399
- •Concept ID:
- C5574706
- •
- Finding
A bending or abnormal curvature affecting a long bone of the leg.
Osteomyelitis leading to amputation due to slow healing fractures- MedGen UID:
- 351263
- •Concept ID:
- C1864975
- •
- Finding
Premature graying of hair- MedGen UID:
- 75524
- •Concept ID:
- C0263498
- •
- Finding
Development of gray hair at a younger than normal age.
Thin skin- MedGen UID:
- 140848
- •Concept ID:
- C0423757
- •
- Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Soft skin- MedGen UID:
- 336730
- •Concept ID:
- C1844592
- •
- Finding
Subjective impression of increased softness upon palpation of the skin.
Presenile cataracts- MedGen UID:
- 56349
- •Concept ID:
- C0154971
- •
- Finding
Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Neoplasm