Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 14

1.

Aplastic anemia

Aplastic anemia is defined as pancytopenia with a hypocellular marrow. [from HPO]

MedGen UID:
505004
Concept ID:
CN001732
Finding
2.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration. [from HPO]

MedGen UID:
56401
Concept ID:
C0162119
Finding
3.

Aplastic anemia

Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002). [from OMIM]

MedGen UID:
8063
Concept ID:
C0002874
Disease or Syndrome
4.

Abnormality of the skeletal system

An abnormality of the skeletal system. [from HPO]

MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
5.

Inherited bone marrow failure syndrome

A group of inherited genetic hematopoietic stem cell disorders characterized by bone marrow failure that involves one or more cell lines. Representative examples include Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. [from NCI]

MedGen UID:
458917
Concept ID:
C2986691
Disease or Syndrome
6.

Bone marrow failure syndrome

MedGen UID:
419754
Concept ID:
C2931245
Disease or Syndrome
7.

Bone marrow hypocellularity

A reduced number of hematopoietic cells present in the bone marrow. [from HPO]

MedGen UID:
383749
Concept ID:
C1855710
Finding
8.

Shwachman syndrome

Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multi-lineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common. [from GeneReviews]

MedGen UID:
124418
Concept ID:
C0272170
Disease or Syndrome
9.

Pancytopenia

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). [from HPO]

MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
10.

Hypoplastic anemia

Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. [from HPO]

MedGen UID:
64229
Concept ID:
C0178416
Disease or Syndrome
11.

Heart and kidney abnormalities

MedGen UID:
879842
Concept ID:
CN235231
Finding
12.

Pancreatic agenesis 2

MedGen UID:
799832
Concept ID:
CN207621
Disease or Syndrome
13.

Lung agenesis-heart defect-thumb anomalies syndrome

Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. [from ORDO]

MedGen UID:
797600
Concept ID:
CN197583
Disease or Syndrome
14.

Granulocytic hypoplasia

Decreased number of granulocyte precursors in the bone marrow. [from HPO]

MedGen UID:
488976
Concept ID:
C1534864
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center