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ABDOMEN - CARDIOVASCULAR
- CHEST
- ENDOCRINE FEATURES
- GENITOURINARY
- GI
- GROWTH
- GU
- HEAD AND NECK
- HEENT
- HEMATOLOGY
- Abnormal red cell morphology seen on peripheral smear
- Absent dense bodies in platelets
- Absent neutrophil inclusions
- Anemia, severe congenital
- Aniso-poikilocytosis on blood smear
- Anti-H in serum
- Antiphospholipid syndrome
- Aplastic crisis
- Autohemolysis
- Bite cells
- Bleeding tendency, mild
- Bone marrow aspirate shows normal cellularity and reticular fibrosis
- Bone marrow fibrosis
- Bone marrow foam cells (type II)
- Bone marrow smear shows erythroid hyperplasia
- Burr-cells
- Circulating orthochromatic erythroblasts
- Coagulation defect due to decreased liver function
- Coagulopathy secondary to liver disease
- Congenital agranulocytosis
- Congenital dyserythropoietic anemia
- Cryohydrocytosis
- Decreased bone marrow cellularity
- Decreased expression of platelet glycoproteins and activation markers
- Decreased multimerin
- Decreased or absent dense granules
- Decreased platelet expression of GP6
- Decreased platelet factor 4
- Decreased platelets
- Decreased proplatelets
- Dysmegakaryopoeisis on bone marrow biopsy
- Dysplastic erythroblasts with internuclear chromatin strands
- Dysplastic red cell precursors
- Elevated fetal hemoglobin (HbF)
- Elevated HbA(2)
- Elevated MCV
- Erythrocyte macrocytosis
- Erythroid hyperplasia
- Factor V deficiency
- Giant platelet alpha granules (peripheral blood)
- Granulocytopenia, severe
- Hemighosts
- Hemolytic anemia, mild to moderate
- Hyperbilirubinemia
- Hypocellularity seen on bone marrow biopsy
- Hypolobulated (bilobed or rod-like) granulocyte nuclei
- Idiopathic thrombocytopenic purpura
- Impaired platelet aggregation due to impaired thromboxane-A2 production
- Increased absolute neutrophil count (ANC) within 0.0-0.2 x 10(9)/l
- Increased autohemolysis
- Increased bleeding after trauma, surgery, or injury
- Increased erythrocyte sodium
- Increased fibrinolysis
- Increased mean corpuscular hemoglobin (MCH)
- Increased myeloid to erythroid ratio (M:E ratio) 10:1-200:1
- Increased promyelocytes
- Increased red cell osmotic fragility
- Increased reticulocyte count
- Iron-deficient anemia
- Juvenile myelomonocytic leukemia
- Leukocytosis with predominant granulocytosis (20,000-100,000 /mm3) common
- Macrocytic anemia in manifesting females
- Megaloblastic anemia, episodic
- Megaloblastoid changes
- Microangiopathic hemolytic anemia
- Microcytic, hypochromic anemia (mild)
- Mild alpha-granule deficiency
- Monocytosis
- Myelofibrosis
- Myeloid maturation arrest intermittently seen on bone marrow biopsies
- Neutropenia
- Neutropenia, chronic or cyclic
- Neutrophil maturation in bone marrow intact
- No increased bleeding tendency
- No neutrophil inclusions
- Normal beta-thromboglobulin
- Normocytic anemia
- Pancytopenia, episodic
- Platelets have decreased dense bodies
- Polychromasia
- Postsurgical bleeding
- Prolonged partial thromboplastin time (PTT)
- Prolonged prothrombin time
- Prolonged prothrombin time (PT)
- Promyelocytes have atypical nuclei and vacuolization of the cytoplasm
- Red cell fragments
- Reduced number of megakaryocytes
- Reduced platelet aggregation response to adenosine 5'-diphosphate (ADP)
- Reduced stomatin at the erythrocyte membrane
- Reticulocytopenia
- Selective absence of red cell precursors and progenitors seen on bone marrow biopsy
- Severity of anemia can range from mild to life-threatening
- Small platelet size
- Stomatocytosis
- Thrombocytopenia (birth)
- Thrombocytopenia (onset birth-neonate, may be precipitated by cow's milk allergy)
- Thrombotic microangiopathy (hyaline thrombi of platelets and fibrin in terminal arterioles and capillaries)
- Type I - methemoglobin concentration 10-35%
- Variable bleeding tendencies
- IMMUNOLOGY
- INHERITANCE
- LABORATORY ABNORMALITIES
- METABOLIC FEATURES
- MUSCLE SOFT, TISSUE
- NEOPLASIA
- NEUROLOGIC
- PRENATAL MANIFESTATIONS
- RESPIRATORY
- SKELETAL
- SKIN, NAILS, HAIR
- VOICE
| Preferred Name |
Stomatocytosis |
| ID |
http://purl.bioontology.org/ontology/OMIM/MTHU037270 |
| cui |
C0677598 |
| Manifestation of |
http://purl.bioontology.org/ontology/OMIM/268150 |
| notation |
MTHU037270 |
| prefLabel |
Stomatocytosis |
| tui |
T034 |
| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/HP_0004446 | Human Phenotype Ontology / 人类表型本体 | LOOM |