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Items: 12

1.

PIEBALDISM, PROGRESSIVE

MedGen UID:
864734
Concept ID:
C4016297
Finding
2.

GERM CELL TUMOR, SOMATIC

MedGen UID:
864733
Concept ID:
C4016296
Neoplastic Process
3.

MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET

MedGen UID:
864732
Concept ID:
C4016295
Finding
4.

PIEBALDISM WITH SENSORINEURAL DEAFNESS

MedGen UID:
864731
Concept ID:
C4016294
Finding
5.

GASTROINTESTINAL STROMAL TUMOR, SOMATIC

MedGen UID:
864730
Concept ID:
C4016293
Neoplastic Process
6.

GASTROINTESTINAL STROMAL TUMOR, FAMILIAL

MedGen UID:
436218
Concept ID:
C2674636
Finding; Gene or Genome
7.

MASTOCYTOSIS, ADULT SPORADIC

MedGen UID:
318978
Concept ID:
C1833857
Finding; Gene or Genome
8.

MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER

MedGen UID:
318977
Concept ID:
C1833856
Finding; Gene or Genome
9.

Mast cell disease, systemic

A variant of mastocytosis characterized by multifocal, dense infiltrates of mast cells (15 or more mast cells in aggregates) detected in the bone marrow and/or other extracutaneous sites. (WHO, 2001) -- 2003 [from NCI]

MedGen UID:
67436
Concept ID:
C0221013
Disease or Syndrome
10.

Mast cell leukemia

A form of systemic mastocytosis (MASTOCYTOSIS, SYSTEMIC) characterized by the presence of large numbers of tissue MAST CELLS in the peripheral blood without skin lesions. It is a high-grade LEUKEMIA disease with bone marrow smear of >20% MAST CELLS, multi-organ failure and a short survival. [from MeSH]

MedGen UID:
44123
Concept ID:
C0023461
Neoplastic Process
11.

Partial albinism

Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004). [from OMIM]

MedGen UID:
36361
Concept ID:
C0080024
Disease or Syndrome
12.

Acute myeloid leukemia

CEBPA-associated familial acute myeloid leukemia (AML) is defined as AML in which a heterozygous germline CEBPA pathogenic variant is present in a family in which multiple individuals have AML. In contrast, sporadic CEBPA-associated AML is defined as AML in which a CEBPA pathogenic variant(s) is identified in leukemic cells but not in the non-leukemic cells. Too few individuals with CEBPA-associated familial AML have been reported to be certain about the natural history of the disease. In the majority of individuals, the age of onset of familial AML appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age 1.8 years and older than age 45 years. The prognosis of CEBPA-associated familial AML appears to be favorable compared with sporadic CEBPA-associated AML. Individuals with CEBPA-associated familial AML who have been cured of their initial disease may be at greater risk of developing additional independent leukemic episodes in addition to the risk of relapse due to preexisting clones. [from GeneReviews]

MedGen UID:
9730
Concept ID:
C0023467
Neoplastic Process
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