| 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:0000008 | Abnormality of female internal genitalia | |
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| HP:0000083 | Renal failure | |
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| HP:0000107 | Renal cysts | |
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| HP:0000169 | Gingival fibromatosis | "Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported." [HPO:curators] |
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| HP:0000230 | Gingivitis | |
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| HP:0000238 | Hydrocephalus | |
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| HP:0000269 | Prominent occiput | |
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| HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000648 | Optic atrophy | |
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| HP:0000708 | Behavioural/Psychiatric Abnormality | |
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| HP:0000717 | Autism | |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
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| HP:0000957 | Cafe-au-lait spots | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001004 | Lymphedema | |
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| HP:0001052 | Nevus flammeus | "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] |
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| HP:0001053 | Hypopigmented skin patches | |
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| HP:0001249 | Mental retardation | |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0001328 | Learning disability | |
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| HP:0001392 | Abnormality of the liver | |
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| HP:0001425 | Heterogeneous | |
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| HP:0001428 | Somatic mutation | |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001541 | Ascites | |
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| HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| HP:0001716 | Wolf-Parkinson-White syndrome | |
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| HP:0001945 | Fever | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002091 | Restrictive lung disease | |
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| HP:0002093 | Respiratory insufficiency | |
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| HP:0002094 | Dyspnea | |
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| HP:0002097 | Emphysema | |
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| HP:0002105 | Hemoptysis | "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] |
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| HP:0002107 | Pneumothorax | |
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| HP:0002113 | Pulmonary infiltrates | |
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| HP:0002205 | Recurrent respiratory infections | |
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| HP:0002239 | Gastrointestinal hemorrhage | |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002384 | Complex partial seizures | "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators] |
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| HP:0002446 | Astrocytosis | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002539 | Cortical dysplasia | |
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| HP:0002617 | Aneurysm | |
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| HP:0002716 | Lymphadenopathy | |
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| HP:0002888 | Ependymoma | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003593 | Early onset | |
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| HP:0003745 | Sporadic | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0004099 | Macrodactyly | |
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| HP:0005562 | Multiple renal cysts | |
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| HP:0005584 | Renal cell carcinoma | "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators] |
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| HP:0006772 | Multiple bilateral renal angiomyolipoma | "Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [HPO:curators] |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0007042 | Focal white matter lesions | |
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| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | "Absence or underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0007449 | Confetti-like hypopigmented macules | |
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| HP:0007565 | Multiple cafe-au-lait spots | |
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| HP:0009592 | Astrocytoma | "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators] |
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| HP:0009594 | Retinal hamartoma | "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [HPO:curators] |
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| HP:0009716 | Subependymal nodules | "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter." [HPO:curators] |
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| HP:0009717 | Cortical tubers | "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients." [HPO:curators] |
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| HP:0009718 | Subependymal giant-cell astrocytoma | "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis." [HPO:curators] |
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| HP:0009720 | Adenoma sebaceum | "Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis." [HPO:curators] |
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| HP:0009721 | Shagreen patch | "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-coloured or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather." [HPO:curators] |
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| HP:0009722 | Dental enamel pits | "The presence of pits in the dental enamel." [HPO:curators] |
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| HP:0009724 | Subungual fibromata | "The presence of fibromata beneath finger or toenails." [HPO:curators] |
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| HP:0009727 | Achromatic retinal patches | "Areas of the retina lacking pigmentation." [HPO:curators] |
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| HP:0009729 | Cardiac rhabdomyoma | "A benign tumor of cardiac striated muscle." [HPO:curators] |
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| HP:0009734 | Optic glioma | "A glioma originating in the optic nerves or chiasm." [HPO:curators] |
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| HP:0010310 | Chylothorax | "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators] |
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| HP:0010609 | Skin tags | |
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| HP:0010615 | Angiofibromas | "Angiofibroma consist of many often dilated vessels." [HPO:curators] |
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| HP:0010762 | Chordoma | "A chordoma is a tumors that arises from embryonic remnants of the `notochord` (FMA:85521) along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis." [HPO:probinson] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0011852 | Chylopericardium | "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct." [HPO:probinson] |
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| HP:0012086 | Abnormal urinary color | "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [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:0012469 | Infantile spasms | "Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig] |
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| HP:0012733 | Macule | "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson] |
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| HP:0012735 | Cough | "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] |
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| HP:0012798 | Pulmonary lymphangiomyomatosis | "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls." [HPO:probinson] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100749 | Chest pain | |
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| HP:0100750 | Atelectasis | |
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| HP:0100804 | Ungual fibroma | "Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate)." [HPO:probinson, pmid:18815399] |
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| HP:0200034 | skin papules | "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER] |
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