HPO
Db Link Name Definition Comment Is a
HPO HP:0012148 Multiple lineage myelodysplasia "Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [DDD:akelly] HP:0002863
HPO HP:0012149 Bilineage myelodysplasia "Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [DDD:akelly] HP:0002863
HPO HP:0012150 Single lineage myelodysplasia "Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic)." [DDD:akelly] HP:0002863
HPO HP:0012151 Hemothorax "The presence of blood in the pleural space." [HPO:probinson] Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels. HP:0002103
HPO HP:0012152 Foveoschisis "Splitting of the retinal layers in the macula." [HPO:probinson] HP:0000493, HP:0030502
HPO HP:0012153 Hypotriglyceridemia "An decrease in the level of triglycerides in the blood." [HPO:probinson] HP:0045014
HPO HP:0012154 Anhedonia "Inability to experience pleasure activities usually found enjoyable." [HPO:probinson] HP:0031466
HPO HP:0012155 Decreased corneal sensation "Reduced ability of the cornea to respond to stimulation." [HPO:probinson] Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma. HP:0000481
HPO HP:0012156 Hemophagocytosis "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson] Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process). HP:0004311
HPO HP:0012157 Subcortical cerebral atrophy "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, PMID:20813998] HP:0007369
HPO HP:0012158 Carotid artery dissection "A separation (dissection) of the layers of the carotid artery wall." [HPO:probinson] HP:0005344
HPO HP:0012159 Internal carotid artery dissection "A separation (dissection) of the layers of the internal carotid artery wall." [HPO:probinson] The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation. HP:0012158
HPO HP:0012160 Intracranial internal carotid artery dissection "A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall." [HPO:probinson] HP:0012159
HPO HP:0012161 External carotid artery dissection "A separation (dissection) of the layers of the external carotid artery wall." [HPO:probinson] HP:0012158
HPO HP:0012162 Common carotid artery dissection "A separation (dissection) of the layers of the common carotid artery wall." [HPO:probinson] HP:0012158
HPO HP:0012163 Carotid artery dilatation "A dilatation (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] HP:0005344
HPO HP:0012164 Asterixis "A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints." [HPO:probinson] The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture. HP:0100022
HPO HP:0012165 Oligodactyly "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson] HP:0011297
HPO HP:0012166 Skin-picking "Repetitive and compulsive picking of skin which results in tissue damage." [HPO:probinson, PMID:20575652] HP:0100716
HPO HP:0012167 Hair-pulling "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss." [HPO:probinson] HP:0100716
HPO HP:0012168 Head-banging "Habitual striking of one's own head against a surface such as a mattress or wall of a crib." [HPO:probinson] HP:0100716
HPO HP:0012169 Self-biting "Habitual biting of one's own body." [HPO:probinson] Biting of one's own arms, lip, check, finger etc. HP:0100716
HPO HP:0012170 Nail-biting "Habitual biting of one's own fingernails." [HPO:probinson] HP:0012169
HPO HP:0012171 Stereotypical hand wringing "Habitual clasping and squeezing of the hands." [HPO:probinson] HP:0000733
HPO HP:0012172 Stereotypical body rocking "Habitual repetitive movement of the body." [HPO:probinson] HP:0000733