| HPO |
HP:0005537 |
Decreased mean platelet volume |
"Average platelet volume below the lower limit of the normal reference interval." [DDD:wouwehand] |
Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). |
HP:0011876 |
| HPO |
HP:0005539 |
T cell chronic lymphocytic lymphoma/leukemia |
"A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent." [ISBN:9780721600406] |
— |
HP:0005526 |
| HPO |
HP:0005540 |
Red blood cell keratocytosis |
"A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns." [HPO:probinson] |
Kerato- is derived from the Greek word for horn. |
HP:0004447 |
| HPO |
HP:0005541 |
Congenital agranulocytosis |
"Congenital onset of a marked decrease in the number of granulocytes." [HPO:probinson] |
— |
HP:0012234 |
| HPO |
HP:0005542 |
Prolonged whole-blood clotting time |
"An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot." [HPO:probinson] |
— |
HP:0001928 |
| HPO |
HP:0005543 |
Reduced protein C activity |
"An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va." [HPO:probinson] |
Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis. |
HP:0030780 |
| HPO |
HP:0005546 |
Increased red cell osmotic resistance |
— |
— |
HP:0020054 |
| HPO |
HP:0005547 |
Myeloproliferative disorder |
"Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential." [HPO:probinson] |
There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis. |
HP:0001909 |
| HPO |
HP:0005548 |
Megakaryocytopenia |
"A reduced count of megakaryocytes." [HPO:probinson] |
Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes. |
HP:0012143 |
| HPO |
HP:0005549 |
obsolete Congenital neutropenia |
— |
This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset. |
— |
| HPO |
HP:0005550 |
Chronic lymphatic leukemia |
"A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias." [HPO:curators] |
— |
HP:0005558 |
| HPO |
HP:0005556 |
Abnormality of the metopic suture |
"The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\"." [HPO:curators] |
— |
HP:0000290, HP:0011329 |
| HPO |
HP:0005557 |
Abnormality of the zygomatic arch |
"An abnormality of the zygomatic arch, also known as the cheek bone." [HPO:probinson] |
The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone. |
HP:0010668 |
| HPO |
HP:0005558 |
Chronic leukemia |
"A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483] |
— |
HP:0001909 |
| HPO |
HP:0005559 |
Abnormality of the kinin-kallikrein system |
— |
— |
HP:0010876 |
| HPO |
HP:0005560 |
Imbalanced hemoglobin synthesis |
"Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia." [HPO:probinson] |
While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography. |
HP:0011902 |
| HPO |
HP:0005561 |
Abnormality of bone marrow cell morphology |
"An anomaly of the form or number of cells in the bone marrow." [DDD:wouwehand, HPO:probinson] |
— |
HP:0001871 |
| HPO |
HP:0005562 |
Multiple renal cysts |
"The presence of many cysts in the kidney." [Eurenomics:ewuehl] |
— |
HP:0000107 |
| HPO |
HP:0005563 |
Decreased numbers of nephrons |
"A reduction in the count of nephrons per kidney." [Eurenomics:ewuehl] |
— |
HP:0012575 |
| HPO |
HP:0005564 |
Absence of renal corticomedullary differentiation |
"A lack of differentiation between renal cortex and medulla on diagnostic imaging." [HPO:probinson] |
— |
HP:0005932 |
| HPO |
HP:0005565 |
Reduced renal corticomedullary differentiation |
"Reduced differentiation between renal cortex and medulla on diagnostic imaging." [HPO:probinson] |
— |
HP:0005932 |
| HPO |
HP:0005567 |
Renal magnesium wasting |
"High urine magnesium in the presence of hypomagnesemia." [Eurenomics:ewuehl] |
— |
HP:0012607 |
| HPO |
HP:0005571 |
Increased renal tubular phosphate reabsorption |
— |
— |
HP:0011038 |
| HPO |
HP:0005572 |
Decreased renal tubular phosphate excretion |
— |
— |
HP:0011036 |
| HPO |
HP:0005574 |
Non-acidotic proximal tubulopathy |
"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss." [HPO:probinson] |
— |
HP:0000114 |