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:0000034 | Hydrocele | |
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HP:0000036 | Abnormality of the penis | |
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HP:0000105 | Enlarged kidneys | |
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HP:0000138 | Ovarian cysts | |
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HP:0000154 | Wide mouth | "Abnormally wide mouth." [HPO:curators] |
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HP:0000158 | Macroglossia | "Increased length and width of the tongue." [pmid:19125428] |
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HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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HP:0000221 | Furrowed tongue | "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428] |
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HP:0000238 | Hydrocephalus | |
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HP:0000256 | Macrocephaly | "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson] |
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HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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HP:0000293 | Full cheeks | |
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HP:0000316 | Hypertelorism | |
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HP:0000319 | Flat philtrum | |
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HP:0000324 | Facial asymmetry | |
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HP:0000327 | Hypoplasia of the maxilla | "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] |
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HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
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HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
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HP:0000365 | Hearing loss | |
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HP:0000490 | Deep set eyes | |
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HP:0000494 | Downward slanting palpebral fissures | |
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HP:0000505 | Impaired vision | |
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HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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HP:0000545 | Myopia | |
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HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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HP:0000648 | Optic atrophy | |
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HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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HP:0000717 | Autism | |
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HP:0000737 | Irritability | |
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HP:0000738 | Hallucinations | |
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HP:0000739 | Anxiety | |
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HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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HP:0000771 | Gynecomastia | |
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HP:0000821 | Hypothyroidism | |
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HP:0000836 | Hyperthyroidism | "Hyperthyroidism refers to excessive secretion of thyroid hormone." [HPO:curators] |
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HP:0000853 | Goiter | "An enlargement of the thyroid gland." [HPO:curators] |
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HP:0000854 | Thyroid adenoma | |
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HP:0000965 | Cutis marmorata | |
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HP:0000972 | Palmoplantar hyperkeratosis | "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson] |
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HP:0000982 | Palmoplantar keratoderma | |
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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:0001012 | Lipomas | "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:curators] |
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HP:0001031 | Subcutaneous lipomas | |
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HP:0001034 | Hyperpigmented macules | |
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HP:0001048 | Cavernous hemangioma | "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:curators] |
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HP:0001051 | Seborrheic dermatitis | "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] |
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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:0001054 | Numerous nevi | |
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HP:0001102 | Angioid streaks | |
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HP:0001123 | Visual field defects | |
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HP:0001156 | Brachydactyly | |
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HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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HP:0001161 | Polydactyly (hands) | |
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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:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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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: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:0001276 | Hypertonia | |
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HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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HP:0001355 | Megalencephaly | "The presence of an unusually large, and usually malfunctioning brain." [HPO:curators] |
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HP:0001371 | Contractures | |
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HP:0001388 | Joint laxity | |
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HP:0001402 | Hepatocellular carcinoma | |
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HP:0001413 | Micronodular cirrhosis | |
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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:0001508 | Failure to thrive | |
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HP:0001522 | Death in infancy | |
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HP:0001528 | Hemihypertrophy | |
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HP:0001548 | Overgrowth | |
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HP:0001626 | Abnormality of the cardiovascular system | "Any abnormality of the heart or vasculature." [HPO:curators] |
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HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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HP:0001770 | Toe syndactyly | "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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HP:0001824 | Weight loss | |
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HP:0001829 | Polydactyly (feet) | |
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HP:0001852 | Gap between first and second toes | "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators] |
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HP:0001909 | Leukemia | "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:curators] |
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HP:0001939 | Metabolism abnormality | |
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HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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HP:0002017 | Nausea and vomiting | |
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HP:0002019 | Constipation | |
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HP:0002024 | Malabsorption | |
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HP:0002027 | Abdominal pain | |
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HP:0002076 | Migraine | |
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HP:0002080 | Intention tremor | "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient s nose or a physician s finger)." [HPO:curators] |
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HP:0002119 | Ventriculomegaly | |
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HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
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HP:0002144 | Tethered cord | "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] |
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HP:0002239 | Gastrointestinal hemorrhage | |
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HP:0002253 | Colon diverticula | |
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HP:0002308 | Arnold-Chiari malformation | "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] |
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HP:0002354 | Memory impairment | |
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HP:0002376 | Developmental regression | |
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HP:0002389 | Cavum septum pellucidum | "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators] |
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HP:0002516 | Increased intracranial pressure | |
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HP:0002624 | Venous abnormalities | |
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HP:0002637 | Cerebral ischemia | |
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HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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HP:0002671 | Basal cell carcinoma | |
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HP:0002808 | Kyphosis | |
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HP:0002858 | Meningioma | |
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HP:0002861 | Malignant melanoma | "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] |
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HP:0002891 | Uterine leiomyosarcoma | |
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HP:0002893 | Pituitary adenoma | |
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HP:0003002 | Breast cancer | |
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HP:0003003 | Colon cancer | |
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HP:0003006 | Neuroblastoma | "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:curators] |
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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:0003581 | Onset in adulthood | |
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HP:0003745 | Sporadic | |
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HP:0003764 | Abnormal or excess nevi | |
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HP:0004099 | Macrodactyly | |
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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:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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HP:0004390 | Hamartomatous polyps | "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestine. Patients with Cowden-Syndrom for example often have multpile hamartomatous gastrointestinal polyps." [HPO:curators] |
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HP:0004437 | Cranial hyperostosis | "Excessive growth of the cranial bones." [HPO:curators] |
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HP:0004481 | Macrocephaly, progressive | "The progressive development of an abnormally large skull." [HPO:curators] |
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HP:0005280 | Depressed nasal root and bridge | |
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HP:0005374 | Cellular immunodeficiency | |
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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:0005595 | Hyperkeratosis, generalized | |
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HP:0005692 | Joint hyperflexibility | |
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HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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HP:0006519 | Alveolar cell carcinoma | |
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HP:0006572 | Subacute progressive viral hepatitis | |
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HP:0006716 | Hereditary nonpolyposis colorectal carcinoma | |
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HP:0006725 | Pancreatic adenocarcinoma | |
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HP:0006731 | Follicular thyroid carcinoma | |
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HP:0006740 | Transitional cell carcinoma of the bladder | |
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HP:0006753 | Increased gastric cancer | |
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HP:0006774 | Ovarian papillary adenocarcinoma | |
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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:0007256 | Mild pyramidal signs | |
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HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
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HP:0007565 | Multiple cafe-au-lait spots | |
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HP:0008551 | Underdeveloped ears | |
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HP:0008675 | Enlarged polycystic ovaries | |
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HP:0008678 | Renal hypoplasia/aplasia | |
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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:0009748 | Fleshy earlobes | "Abnormally thickened or fleshy earlobes." [HPO:curators] |
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HP:0010301 | Spinal dysraphism | "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [HPO:curators] |
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HP:0010442 | Polydactyly | |
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HP:0010524 | Agnosia | "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:curators] |
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HP:0010526 | Dysgraphia | "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators] |
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HP:0010609 | Skin tags | |
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HP:0010619 | Fibroma of the breast | "A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman." [HPO:curators] |
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HP:0010622 | Neoplasia of the skeletal system | "`Neoplasia` (HP:0002664) affecting the `skeleton` (FMA:23875)." [HPO:probinson] |
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HP:0010714 | 2-4 toe syndactyly | "`Syndactyly` (HP:0001159) with fusion of toes two to four." [HPO:sdoelken] |
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HP:0010786 | Urinary tract neoplasia | |
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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:0012032 | Lipoma | "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417] |
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HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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HP:0012113 | Abnormality of creatine metabolism | "An anomaly of the concentration or homeostasis of `creatine` (CHEBI:16919). Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson] |
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HP:0012114 | Endometrial carcinoma | "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson] |
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HP:0012126 | Stomach cancer | "A cancer arising in any part of the stomach." [HPO:probinson] |
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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, pmid:10841526] |
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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:0012721 | Venous malformation | "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [HPO:probinson] |
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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:0012740 | Papilloma | "A tumor of the skin or mucous membrane with finger-like projections." [HPO:probinson] |
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HP:0012871 | Varicocele | "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum." [HPO:probinson] |
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HP:0012887 | Ovarian serous cystadenoma | "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue." [HPO:probinson, PMID:23766763] |
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HP:0025104 | Capillary malformation | "A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules)." [PMID:22483320, PMID:25864701] |
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HP:0040009 | Hyperparakeratosis | |
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HP:0100026 | Arteriovenous malformations | |
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HP:0100031 | Neoplasm of the thyroid gland | "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [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:0100555 | Asymmetric growth | |
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HP:0100559 | Lower limb asymmetry | |
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HP:0100571 | Cardiac diverticulum | "A cardiac diverticulum is a rare congential malformation which is either fibrous or muscular." [HPO:sdoelken] |
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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:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
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HP:0100579 | Mucosal telangiectasiae | "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken] |
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HP:0100585 | Teleangiectasia of the skin | |
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HP:0100613 | Death in early adulthood | |
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HP:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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HP:0100621 | Dysgerminoma | "The presence of a `dysgerminoma` (MPATH:312), i.e., an undifferentiated germ cell tumor of the `ovary` (FMA:7209)." [HPO:sdoelken] |
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HP:0100646 | Thyroiditis | "`Inflammation` (MPATH:212) of the `thyroid gland` (FMA:9603)." [HPO:probinson] |
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HP:0100659 | Abnormality of the cerebral vasculature | |
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HP:0100660 | Dyskinesis | "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] |
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HP:0100743 | Neoplasm of the rectum | |
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HP:0100761 | Visceral angiomatosis | |
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HP:0100763 | Abnormality of the lymphatic system | |
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HP:0100780 | Conjunctival hamartomas | |
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HP:0100790 | Hernia | |
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HP:0100835 | Benign neoplasm of the central nervous system | |
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HP:0200008 | Multiple intestinal polyps | |
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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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HP:0200043 | verrucae | "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER] |
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HP:0200063 | Colorectal polyps | |
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HP:0410067 | Increased level of L-fucose in urine | "An increase in the level of L-fucose in the urine." [PMID:2311216] |
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