|
Decreased mean platelet volume
|
HP_0005537 |
[Average platelet volume below the lower limit of the normal reference interval.] |
|
Abnormal platelet volume
|
HP_0011876 |
[Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.] |
|
methylmalonyl-CoA mutase activity
|
GO_0004494 |
[Catalysis of the reaction: (R)-methylmalonyl-CoA = succinyl-CoA.] |
|
Transient myeloproliferative syndrome
|
HP_0005534 |
[A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.] |
|
Exercise-induced hemolysis
|
HP_0005535 |
[A form of hemolytic anemia that can be triggered by exertion.] |
|
Macrocytic dyserythropoietic anemia
|
HP_0005532 |
|
|
Biphenotypic acute leukemia
|
HP_0005531 |
[A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.] |
|
developmental and structural abnormality
|
MPATH_55 |
[Developmental and structural abnormalities occurring during embryonic development or during adult life.] |
|
developmental or adult structural defect
|
MPATH_56 |
[Structural, physical or other general defect of prenatal development of the embryo and the placenta, or such as are acquired in the adult.] |
|
Adenocarcinoma of the intestines
|
HP_0040273 |
[A malignant epithelial tumor with a glandular organization that originates in the intestines.] |
|
Adenocarcinoma of the colon
|
HP_0040276 |
|
|
Neoplasm of the pituitary gland
|
HP_0040277 |
|
|
Hyperintensity of MRI T2 signal of the spinal cord
|
HP_0040272 |
[A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.] |
|
obsolete Prolactinoma
|
HP_0040278 |
|
|
Frequency
|
HP_0040279 |
[Class to represent frequency of phenotypic abnormalities within a patient cohort.] |
|
NMR chemical shift reference compound
|
CHEBI_228364 |
[Any compound that produces a peak used as reference frequency in the delta chemical shift scale.] |
|
Obligate
|
HP_0040280 |
[Always present, i.e. in 100% of the cases.] |
|
Excluded
|
HP_0040285 |
[Present in 0% of the cases.] |
|
Abnormal axial muscle morphology
|
HP_0040286 |
[A structural anomaly of the muscles of the trunk and head.] |
|
Axial muscle atrophy
|
HP_0040287 |
|