Phenotypes associated with the disease ghosal hematodiaphyseal dysplasia (OMIM:231095):
- Iron deficiency anemia (HP:0001891). Evidence: PCS. Frequency: 1/1. (PMID:39220787)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: PCS. Frequency: 2/2. (PMID:33595912)
- Rheumatoid arthritis (HP:0001370): Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. Evidence: PCS. Frequency: 0/1. (PMID:39220787)
- Cortical thickening of long bone diaphyses (HP:0005791): Abnormal thickening of the cortex of the diaphyseal region of long bones. Evidence: PCS. Frequency: 1/1. (PMID:39220787)
- Hyperostosis cranialis interna (HP:0005890): Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:231095)
- Diaphyseal dysplasia (HP:0100252). Evidence: PCS. Frequency: 10/10. (PMID:18264100)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: PCS. Frequency: 1/1. (PMID:39220787)
- Abnormal platelet count (HP:0011873): Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. Evidence: PCS. Frequency: 0/1. (PMID:33595912)
- Erythroid dysplasia (HP:0031688): Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. Evidence: PCS. Frequency: 1/1. (PMID:39220787)
- Megakaryocyte dysplasia (HP:0031689): The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. Evidence: PCS. Frequency: 1/1. (PMID:39220787)
- Myelofibrosis (HP:0011974): Replacement of bone marrow by fibrous tissue. Evidence: PCS. Frequency: 3/3. (PMID:33595912;PMID:39220787)
- Increased density of long bones (HP:0006392): An abnormal increase in the bone density of the long bones. Evidence: PCS. Frequency: 11/11. (PMID:33595912;PMID:18264100)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 10/10. (PMID:18264100)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:33595912)
- Increased bone mineral density (HP:0011001): 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. Evidence: PCS. Frequency: 1/1. (PMID:39220787)
- Thickened cortex of long bones (HP:0000935): Abnormal thickening of the cortex of long bones. Evidence: PCS. Frequency: 10/10. (PMID:18264100)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:39220787)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: PCS. Frequency: 1/1. (PMID:39220787)
- Positive Coombs test (HP:0020026): A positive (abnormal) result of the direct antiglobulin test (DAT; sometimes referred to as the Coombs test). The test is a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. The DAT tests for antibodies or complement bound directly to erythrocytes, indicating in vivo sensitization. Evidence: PCS. Frequency: 0/1. (PMID:33595912)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 0/5. (PMID:18264100)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:33595912)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 2/2. (PMID:33595912)
- Refractory anemia (HP:0005505). Evidence: TAS. (OMIM:231095)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/5. (PMID:18264100)
- Abnormality of alkaline phosphatase level (HP:0004379): An abnormality of alkaline phosphatase level. Evidence: PCS. Frequency: 0/5. (PMID:18264100)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 2/20. (OMIM:231095;PMID:18264100)
- Decreased serum thromboxane B2 (HP:0032244): A reduction in the concentration of thromboxane B2 in the blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:18264100)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:18264100)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 0/2. (PMID:33595912)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 7/11. (PMID:33595912;PMID:18264100)
- Diaphyseal undertubulation (HP:0005019): Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones. Evidence: PCS. Frequency: 11/11. (PMID:33595912;PMID:18264100)
- Normocytic anemia (HP:0001897): A kind of anemia in which the volume of the red blood cells is normal. Evidence: PCS. Frequency: 2/2. (PMID:33595912)