| 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:0000040 | Enlarged penis | |
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| HP:0000053 | Macroorchidism | "The presence of abnormally large testes." [HPO:curators] |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000098 | Increased body height | |
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| HP:0000107 | Renal cysts | |
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| HP:0000138 | Ovarian cysts | |
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| HP:0000147 | polycystic ovaries | |
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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:0000189 | Narrow palate | "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] |
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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:0000268 | Dolichocephaly | |
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| HP:0000276 | Long face | |
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| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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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:0000343 | Long philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000369 | Low-set ears | "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] |
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| HP:0000400 | Large ears | |
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| HP:0000445 | Broad nose | |
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| HP:0000463 | Nares, anteverted | "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422] |
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| HP:0000464 | Abnormality of the neck | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
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| HP:0000494 | Downward slanting palpebral fissures | |
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| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
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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:0000520 | Proptosis | |
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| HP:0000538 | Pseudopapilledema | |
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| HP:0000541 | Detached retina | |
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| HP:0000545 | Myopia | |
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| HP:0000557 | Buphthalmos | "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek bous or ox and ophthalmos or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched." [HPO:curators] |
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| HP:0000567 | Chorioretinal coloboma | |
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| HP:0000587 | Abnormality of the optic nerve | "Abnormality of the optic nerve (also known as cranial nerve II), which transmits visual information from the retina to the brain." [HPO:curators] |
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| HP:0000615 | Abnormality of the pupils | |
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| HP:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
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| HP:0000670 | Carious teeth | |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000717 | Autism | |
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| HP:0000750 | Impaired language development | |
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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:0000828 | Abnormality of the parathyroid glands | "An abnormality of the parathyroid glands, which are small endocrine glands in the neck that produce parathyroid hormone." [HPO:curators] |
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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:0000872 | Hashimoto thyroiditis | |
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| HP:0000873 | Diabetes insipidus | "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] |
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| HP:0000925 | Abnormality of the vertebral column | "Any abnormality of the spine (vertebral column)." [HPO:curators] |
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| HP:0000956 | Acanthosis nigricans | |
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| HP:0000957 | Cafe-au-lait spots | |
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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:0001004 | Lymphedema | |
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| HP:0001009 | Telangiectasia | "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [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:0001014 | Angiokeratoma | |
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| HP:0001028 | Hemangiomas | "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:curators] |
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| HP:0001031 | Subcutaneous lipomas | |
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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:0001053 | Hypopigmented skin patches | |
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| HP:0001054 | Numerous nevi | |
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| HP:0001062 | Atypical nevi (>5mm with irregular edge and pigmentation) | |
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| HP:0001074 | Atypical nevi often present in non-sun exposed areas | |
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| HP:0001100 | Heterochromia iridis | "Heterochromia iridis is a difference in the color of the iris in the two eyes." [HPO:curators] |
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| HP:0001102 | Angioid streaks | |
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| HP:0001140 | Epibulbar dermoids | "An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:curators] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001161 | Polydactyly (hands) | |
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| HP:0001163 | Abnormality of the metacarpal bones | |
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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: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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001334 | Communicating hydrocephalus | |
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| HP:0001363 | Craniosynostosis | "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators] |
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| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
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| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
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| HP:0001482 | Subcutaneous nodules | |
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| HP:0001508 | Failure to thrive | |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001519 | Dolichostenomelia | "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [HPO:curators] |
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| HP:0001555 | Asymmetry of the thorax | "Lack of symmetry of the thorax." [HPO:curators] |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001627 | Cardiac abnormality | "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] |
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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:0001645 | Sudden cardiac death | |
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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:0001822 | Hallux valgus | "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
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| HP:0001883 | Talipes | |
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| HP:0001933 | Subcutaneous hemorrhage | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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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:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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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:0002093 | Respiratory insufficiency | |
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| HP:0002101 | Abnormal lung lobation | "Defects in the formation of pulmonary lobules." [HPO:curators] |
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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:0002167 | Neurological speech impairment | |
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| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
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| HP:0002194 | Delayed gross motor development | |
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| HP:0002204 | Pulmonary embolism | |
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| HP:0002230 | Generalized hirsutism | "Abnormally increased hair growth over much of the entire body." [HPO:curators] |
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| HP:0002250 | Abnormality of the large intestine | "Any abnormality of the large intestine, which consists of the cecum and colon." [HPO:curators] |
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| HP:0002253 | Colon diverticula | |
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| HP:0002282 | Heterotopia | |
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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:0002410 | Aqueductal stenosis | "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [HPO:curators] |
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| HP:0002516 | Increased intracranial pressure | |
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| HP:0002558 | Supernumerary nipples | |
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| HP:0002573 | Hematochezia | |
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| HP:0002576 | Intussusception | |
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| HP:0002597 | Abnormality of the vasculature | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002665 | Lymphoma | "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] |
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| HP:0002719 | Recurrent infections | |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
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| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| HP:0002808 | Kyphosis | |
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| HP:0002816 | Genu recurvatum | |
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| HP:0002827 | Dislocated hips | |
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| HP:0002858 | Meningioma | |
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| HP:0002860 | Squamous cell carcinoma | |
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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:0002878 | Early respiratory failure | |
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| HP:0002890 | Thyroid carcinoma | |
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| HP:0002894 | Pancreatic cancer | |
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| HP:0003002 | Breast cancer | |
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| HP:0003019 | Abnormality of the wrist | "Abnormalitly of the wrist, the structure connecting the hand and the forearm." [HPO:curators] |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003198 | Myopathy | |
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| HP:0003199 | Decreased muscle mass | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003312 | Abnormal form of the vertebral bodies | |
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| HP:0003468 | Abnormalities of the vertebrae | |
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| HP:0003517 | Birth length greater than 97th percentile | |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003715 | Muscle biopsy shows myofibrillar myopathy | |
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| HP:0003764 | Abnormal or excess nevi | |
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| HP:0003826 | Stillborn or neonatal death | |
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| HP:0004059 | Radial club | |
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| HP:0004099 | Macrodactyly | |
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| HP:0004209 | Clinodactyly of the 5th finger | "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [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:0004326 | Cachexia | |
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| HP:0004349 | Reduced bone mineral density | "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [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:0004418 | Thrombophlebitis | |
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| HP:0004420 | Arterial thrombosis | |
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| HP:0004422 | Biparietal narrowing | "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [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:0004490 | Calvarial hyperostosis | "Excessive growth of the calvarial bone." [HPO:curators] |
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| HP:0004942 | Aortic aneurysms | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005293 | Frequent early-onset venous insufficiency | |
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| HP:0005306 | Capillary hemangiomas | "The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces." [HPO:curators] |
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| HP:0005374 | Cellular immunodeficiency | |
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| HP:0005490 | Macrocephaly, postnatal | "The postnatal development of an abnormally large skull (macrocephaly)." [HPO:curators] |
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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:0006731 | Follicular thyroid carcinoma | |
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| HP:0006740 | Transitional cell carcinoma of the bladder | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0007074 | Thick corpus callosum | |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0007440 | Generalized hyperpigmentation | |
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| HP:0007552 | Abnormal subcutaneous fat tissue distribution | |
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| HP:0007565 | Multiple cafe-au-lait spots | |
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| HP:0007703 | Abnormal retinal pigmentation | |
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| HP:0007716 | Malignant intraocular melanoma | "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [HPO:curators] |
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| HP:0007818 | Ring iris heterochromia | |
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| HP:0007873 | Abnormally prominent line of Schwalbe | |
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| HP:0007899 | Retinal nonattachment | |
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| HP:0008675 | Enlarged polycystic ovaries | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0009023 | Abdominal wall muscle weakness | |
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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: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:0009777 | Aplasia of the thumb | "Absent thumb." [HPO:curators] |
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| HP:0009804 | Reduced number of teeth | |
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| HP:0009928 | Ala nasi, thick | "Increase in bulk of the ala nasi." [pmid:19152422] |
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| HP:0010497 | Sirenomelia | "A developmental defect in which the legs are fused together." [HPO:curators] |
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| HP:0010508 | Metatarsus valgus | "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [HPO:curators] |
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| HP:0010516 | Thymus hyperplasia | "Enlargement of the thymus." [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:0010784 | Uterine neoplasia | |
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| HP:0010788 | Testicular neoplasia | |
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| HP:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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| HP:0010816 | Epidermal nevus | "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood." [HPO:probinson] |
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| HP:0011027 | Abnormality of the fallopian tube | "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson] |
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| HP:0011276 | Vascular skin abnormality | |
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| HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
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| HP:0011386 | Narrow internal auditory canal | "Reduction in diameter of the internal auditory canal." [DDD:dfitzpatrick] |
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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:0012056 | Cutaneous melanoma | "The presence of a `melanoma` (MPATH:359) of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0012062 | Bone cyst | "A fluid filled cavity that develops with a bone." [HPO:probinson] |
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| HP:0012081 | Enlarged cerebellum | "An abnormally increased size of the cerebellum compared to other brain structures." [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:0012125 | Prostate cancer | "A cancer of the `prostate` (FMA:9600)." [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:0012844 | Trichilemmoma | "A benign tumour originating from the outer root sheath of the hair follicle." [UToronto:htrang] |
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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:0025318 | Ovarian carcinoma | "A malignant neoplasm originating from the surface ovarian epithelium." [] |
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| HP:0030406 | Primary peritoneal carcinoma | "A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum." [HPO:probinson] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0040198 | Non-medullary thyroid carcinoma | |
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| HP:0100013 | Neoplasia of the breast | |
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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:0100521 | Neoplasia of the thymus | "Tumorous growth of the `thymus` (FMA:9607)." [HPO:probinson] |
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| HP:0100526 | Neoplasia of the lungs | |
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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:0100559 | Lower limb asymmetry | |
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| HP:0100560 | Upper limb asymmetry | |
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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:0100615 | Ovarian neoplasm | "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] |
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| HP:0100641 | Cortical adrenal neoplasia | |
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| HP:0100646 | Thyroiditis | "`Inflammation` (MPATH:212) of the `thyroid gland` (FMA:9603)." [HPO:probinson] |
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| HP:0100730 | Bronchogenic cyst | "A rare congenital cystic lesion of the lungs in the mediastinum." [HPO:sdoelken] |
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| HP:0100761 | Visceral angiomatosis | |
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| HP:0100764 | Lymphangioma | "Malformation of the lymphatic system." [HPO:sdoelken] |
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| HP:0100774 | Hyperostosis | "Excessive growth or abnormal thickening of bone tissue." [HPO:probinson] |
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| HP:0100777 | Exostoses | |
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| HP:0100780 | Conjunctival hamartomas | |
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| HP:0200008 | Multiple intestinal polyps | |
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| HP:0200016 | Acrokeratosis | "Overgrowth of the skin s horny layer. Normally characterized by nodular configurations of the backs of the toes and fingers." [HPO:skoehler] |
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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:0200063 | Colorectal polyps | |
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| HP:0500009 | Dysplastic gangliocytoma of the cerebellum | "It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum." [PMID:11073535] |
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