| HPO |
HP:0012173 |
Orthostatic tachycardia |
"An increase in heart rate with standing of 30 beats per minute or more." [HPO:probinson, PMID:9244228] |
— |
HP:0012332 |
| HPO |
HP:0012174 |
Glioblastoma multiforme |
"A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [HPO:probinson, NCIT:C3058, PMID:10841526] |
— |
HP:0009733 |
| HPO |
HP:0012175 |
Resistance to activated protein C |
"Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay." [HPO:probinson, PMID:14976057] |
The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay. |
HP:0030780 |
| HPO |
HP:0012176 |
Abnormal natural killer cell morphology |
"An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells." [HPO:probinson, PMID:21212348] |
— |
HP:0004332 |
| HPO |
HP:0012177 |
Abnormal natural killer cell physiology |
"A functional anomaly of the natural killer cell." [HPO:probinson] |
— |
HP:0031409 |
| HPO |
HP:0012178 |
Reduced natural killer cell activity |
"Reduced ability of the natural killer cell to function in the adaptive immune response." [HPO:probinson] |
— |
HP:0012177 |
| HPO |
HP:0012179 |
Craniofacial dystonia |
"A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia." [HPO:probinson] |
— |
HP:0004373 |
| HPO |
HP:0012180 |
Cystic medial necrosis |
"A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells." [HPO:probinson] |
The lesions of cystic medial necrosis are not true cysts. |
HP:0011004 |
| HPO |
HP:0012181 |
Entrapment neuropathy |
"Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss." [HPO:probinson] |
An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical contriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band. |
HP:0009830 |
| HPO |
HP:0012182 |
Oropharyngeal squamous cell carcinoma |
"A squamous cell carcinoma that originates in the oropharnyx." [HPO:probinson] |
— |
HP:0002860 |
| HPO |
HP:0012183 |
Hyperplastic colonic polyposis |
"Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation." [HPO:probinson] |
— |
HP:0030255 |
| HPO |
HP:0012184 |
Increased HDL cholesterol concentration |
"An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood." [HPO:probinson] |
The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II. |
HP:0010980, HP:0031888 |
| HPO |
HP:0012185 |
Constrictive median neuropathy |
"Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [HPO:probinson] |
Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome. |
HP:0012181 |
| HPO |
HP:0012186 |
Entrapment neuropathy of the ulnar nerve at elbow |
"An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand." [HPO:probinson] |
— |
HP:0012181 |
| HPO |
HP:0012187 |
Increased erythrocyte protoporphyrin concentration |
"An increased concentration of protoporphyrins in erythrocytes." [HPO:probinson, PMID:18760763] |
— |
HP:0010472 |
| HPO |
HP:0012188 |
Hyperemesis gravidarum |
"Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight." [HPO:probinson, OMIM:603373] |
— |
HP:0002686 |
| HPO |
HP:0012189 |
Hodgkin lymphoma |
"A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells." [HPO:probinson] |
— |
HP:0002665 |
| HPO |
HP:0012190 |
T-cell lymphoma |
"A type of lymphoma that originates in T-cells." [HPO:probinson] |
— |
HP:0012539 |
| HPO |
HP:0012191 |
B-cell lymphoma |
"A type of lymphoma that originates in B-cells." [HPO:probinson] |
— |
HP:0012539 |
| HPO |
HP:0012192 |
Cutaneous T-cell lymphoma |
"A type of T-cell lymphoma that exhibits malignant infiltration of the skin." [HPO:probinson] |
— |
HP:0012190 |
| HPO |
HP:0012193 |
Anaplastic large-cell lymphoma |
"A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei." [HPO:probinson] |
— |
HP:0012190 |
| HPO |
HP:0012194 |
Episodic hemiplegia |
"Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body." [HPO:probinson] |
— |
HP:0002301 |
| HPO |
HP:0012195 |
Irregular respiration |
"Uneven rhythm of breathing." [HPO:probinson] |
— |
HP:0002793 |
| HPO |
HP:0012196 |
Cheyne-Stokes respiration |
"An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes." [HPO:probinson] |
— |
HP:0002793 |
| HPO |
HP:0012197 |
Insulinoma |
"A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [HPO:probinson, NCIT:C95598] |
— |
HP:0008261 |