From HPO
Refractory anemia- MedGen UID:
- 286
- •Concept ID:
- C0002893
- •
- Disease or Syndrome
A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)
Myelofibrosis- MedGen UID:
- 10146
- •Concept ID:
- C0026987
- •
- Neoplastic Process
Replacement of bone marrow by fibrous tissue.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Bone marrow hypocellularity- MedGen UID:
- 383749
- •Concept ID:
- C1855710
- •
- Finding
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
Diaphyseal dysplasia- MedGen UID:
- 4268
- •Concept ID:
- C0011989
- •
- Finding
Camurati-Engelmann disease (CED) is characterized by hyperostosis of the long bones and the skull, proximal muscle weakness, limb pain, a wide-based, waddling gait, and joint contractures. Facial features such as macrocephaly, frontal bossing, enlargement of the mandible, proptosis, and cranial nerve impingement resulting in facial palsy are seen in severely affected individuals later in life.
Increased bone mineral density- MedGen UID:
- 10502
- •Concept ID:
- C0029464
- •
- Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Hyperostosis cranialis interna- MedGen UID:
- 327093
- •Concept ID:
- C1840404
- •
- Disease or Syndrome
Hyperostosis cranialis interna (HCIN) is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).
Leukopenia- MedGen UID:
- 6073
- •Concept ID:
- C0023530
- •
- Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
- Abnormality of blood and blood-forming tissues
- Abnormality of the immune system
- Abnormality of the musculoskeletal system