| 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] |
Show
|
| 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] |
Show
|
| HP:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
Show
|
| HP:0000023 | Inguinal hernia | |
Show
|
| HP:0000061 | Ambiguous genitalia, female | |
Show
|
| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
Show
|
| HP:0000081 | Duplicated collecting system | |
Show
|
| HP:0000140 | Menstrual abnormalities | |
Show
|
| HP:0000144 | Decreased fertility | |
Show
|
| HP:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
Show
|
| HP:0000212 | Gingival hyperplasia | |
Show
|
| HP:0000230 | Gingivitis | |
Show
|
| 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] |
Show
|
| HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
| HP:0000563 | Keratoconus | "A cone-shaped deformity of the cornea." [HPO:curators] |
Show
|
| HP:0000691 | Microdontia | |
Show
|
| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
Show
|
| HP:0000762 | Decreased nerve conduction velocities | |
Show
|
| HP:0000763 | Sensory neuropathy | "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] |
Show
|
| HP:0000813 | Bicornuate uterus | |
Show
|
| HP:0000835 | Adrenal hypoplasia | |
Show
|
| HP:0000963 | Thin skin | |
Show
|
| HP:0000974 | Hyperextensible skin | |
Show
|
| HP:0000977 | Soft skin | |
Show
|
| HP:0000978 | Ecchymoses | |
Show
|
| HP:0000987 | Scarring | |
Show
|
| HP:0001063 | Acrocyanosis | |
Show
|
| HP:0001097 | Keratoconjunctivitis sicca | "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001297 | Stroke | |
Show
|
| HP:0001376 | Decreased mobility of joints | |
Show
|
| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
Show
|
| HP:0001482 | Subcutaneous nodules | |
Show
|
| HP:0001537 | Umbilical hernia | "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] |
Show
|
| HP:0001634 | Mitral valve prolapse | |
Show
|
| HP:0001763 | Pes planus | "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] |
Show
|
| HP:0002017 | Nausea and vomiting | |
Show
|
| HP:0002019 | Constipation | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002036 | Hiatus hernia | "A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn)." [HPO:curators] |
Show
|
| HP:0002076 | Migraine | |
Show
|
| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
Show
|
| HP:0002239 | Gastrointestinal hemorrhage | |
Show
|
| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
Show
|
| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
Show
|
| HP:0002579 | Gastrointestinal dysmotility | |
Show
|
| HP:0002645 | Wormian bones | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002758 | Osteoarthritis | |
Show
|
| HP:0002797 | Osteolysis | |
Show
|
| HP:0002827 | Dislocated hips | |
Show
|
| HP:0002829 | Arthralgia | |
Show
|
| HP:0003019 | Abnormality of the wrist | "Abnormalitly of the wrist, the structure connecting the hand and the forearm." [HPO:curators] |
Show
|
| HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
Show
|
| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
Show
|
| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
Show
|
| HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
Show
|
| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
Show
|
| HP:0003555 | Muscle fiber splitting | "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [pmid:6123177] |
Show
|
| HP:0003701 | Proximal muscle weakness | "A lack of strength of the proximal muscles." [HPO:curators] |
Show
|
| HP:0004416 | Precocious atherosclerosis | |
Show
|
| HP:0004970 | Ascending aortic dilation | |
Show
|
| HP:0005293 | Frequent early-onset venous insufficiency | |
Show
|
| HP:0005294 | Arterial dissection | |
Show
|
| HP:0005692 | Joint hyperflexibility | |
Show
|
| HP:0007126 | Proximal amyotrophy | "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators] |
Show
|
| HP:0009025 | Increased connective tissue | "The presence of an abnormally increased amount of connective tissue." [HPO:curators] |
Show
|
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | "Absence or underdevelopment of the abdominal wall musculature." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
| HP:0012732 | Anorectal anomaly | "An abnormality of the anus or rectum." [HPO:probinson] |
Show
|
| HP:0100550 | Rupture of tendons | |
Show
|
| HP:0100645 | Cystocele | "When the tough fibrous wall between a woman s bladder and her vagina (the pubocervical fascia) is torn, allowing the bladder to herniate into the vagina." [HPO:sdoelken] |
Show
|
