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Items: 12

1.

Griscelli disease

Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3). [from ORDO]

MedGen UID:
798018
Concept ID:
CN204933
Disease or Syndrome
2.

Phenotypic variability

A variability of phenotypic features. [from HPO]

MedGen UID:
326537
Concept ID:
C1839608
Finding
3.

Dilution, pigmentary

MedGen UID:
406294
Concept ID:
C1876214
Disease or Syndrome
4.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
5.

Lymphohistiocytosis, Hemophagocytic

A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. [from NCI]

MedGen UID:
6158
Concept ID:
C0024291
Disease or Syndrome
6.

Hypopigmentation of the skin

A reduction of skin color related to a decrease in melanin production and deposition. [from HPO]

MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
7.

Abnormality of the lymphatic system

The lymphatic system is a network of tissues and organs. It is made up of. -Lymph - a fluid that contains white blood cells that defend against germs. -Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. -Lymph nodes - glands found throughout the lymph vessels. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.  [from MedlinePlus]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
8.

Histiocytosis, Non-Langerhans-Cell

Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; JUVENILE XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). [from MeSH]

MedGen UID:
9265
Concept ID:
C0019624
Disease or Syndrome
9.

Immunodeficiency

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from NCI]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
10.

Histiocytosis

An excessive number of histiocytes (tissue macrophages). [from HPO]

MedGen UID:
6845
Concept ID:
C0019618
Finding; Neoplastic Process
11.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
12.

Osteoporosis oculocutaneous hypopigmentation syndrome

MedGen UID:
331321
Concept ID:
C1832592
Disease or Syndrome
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