| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000225 | Gingival bleeding | |
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| HP:0000280 | Coarse facial features | |
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| HP:0000360 | Tinnitus | "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] |
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| HP:0000421 | Epistaxis | |
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| HP:0000470 | Short neck | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000978 | Ecchymoses | |
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| HP:0000989 | Pruritus | "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] |
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| HP:0000995 | Pigmented nevi | "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators] |
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| HP:0001123 | Visual field defects | |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001260 | Dysarthria | "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
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| HP:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001297 | Stroke | |
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| HP:0001320 | Cerebellar vermis hypoplasia | |
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| HP:0001409 | Portal hypertension | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001658 | Myocardial infarction | |
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| HP:0001671 | Abnormality of the cardiac septa | |
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| HP:0001681 | Angina pectoris | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001824 | Weight loss | |
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| HP:0001873 | Thrombocytopenia | |
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| HP:0001876 | Pancytopenia | |
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| HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
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| HP:0001894 | Thrombocytosis | |
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| HP:0001903 | Anemia | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002204 | Pulmonary embolism | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002315 | Headache | "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] |
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| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
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| HP:0002326 | Transient ischemic attack | |
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| HP:0002488 | Acute leukemia | |
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| HP:0002639 | Budd-Chiari syndrome | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002829 | Arthralgia | |
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| HP:0002863 | Myelodysplasia | |
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| HP:0003010 | Prolonged bleeding time | |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0004331 | Decreased skull ossification | "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] |
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| HP:0004417 | Intermittent claudication | |
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| HP:0004420 | Arterial thrombosis | |
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| HP:0004808 | Acute myeloid leukemia | "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators] |
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| HP:0004859 | amegakaryocytic thrombocytopenia | |
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| HP:0004936 | Venous thrombosis | |
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| HP:0004950 | Peripheral arterial disease | |
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| HP:0005268 | Increased risk of spontaneous abortion | |
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| HP:0005506 | Chronic myelogenous leukemia | |
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| HP:0005513 | Increased megakaryocyte precursor cells | |
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| HP:0005547 | Myeloproliferative disorder | |
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| HP:0005548 | Megakaryocytopenia | |
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| HP:0011875 | Abnormal platelet morphology | "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson] |
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| HP:0011902 | Abnormal hemoglobin | "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson] |
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| HP:0011974 | Myelofibrosis | "Replacement of bone marrow by fibrous tissue." [HPO:probinson] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0030242 | Portal vein thrombosis | "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins." [HPO:probinson, pmid:21960890] |
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| HP:0100576 | Amaurosis fugax | "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] |
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| HP:0100749 | Chest pain | |
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