| HP:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
Show
|
| HP:0000015 | Bladder diverticula | "The presence of one or more diverticula (sac or pouch) in the wall of the urinary bladder." [HPO:curators] |
Show
|
| HP:0000023 | Inguinal hernia | |
Show
|
| HP:0000126 | Hydronephrosis | |
Show
|
| HP:0000174 | Abnormality of palate | "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] |
Show
|
| 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] |
Show
|
| HP:0000239 | Large fontanelles | "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] |
Show
|
| HP:0000248 | Brachycephaly | "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000269 | Prominent occiput | |
Show
|
| HP:0000270 | Delayed closure of fontanelles | "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators] |
Show
|
| HP:0000271 | Abnormality of the face | |
Show
|
| HP:0000275 | Narrow face | |
Show
|
| HP:0000276 | Long face | |
Show
|
| HP:0000293 | Full cheeks | |
Show
|
| HP:0000298 | Mask-like facies | |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000348 | High forehead | "An abnormally increased height of the forehead." [HPO:curators] |
Show
|
| HP:0000444 | Beaked nose | |
Show
|
| HP:0000472 | Long neck | |
Show
|
| HP:0000494 | Downward slanting palpebral fissures | |
Show
|
| HP:0000708 | Behavioural/Psychiatric Abnormality | |
Show
|
| HP:0000759 | Abnormality of the peripheral nervous system | |
Show
|
| 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] |
Show
|
| HP:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
Show
|
| HP:0000774 | Narrow chest | |
Show
|
| HP:0000885 | Broad ribs | |
Show
|
| HP:0000894 | Short clavicles | |
Show
|
| HP:0000916 | Broad clavicles | "Increased breadth of the clavicles." [HPO:curators] |
Show
|
| HP:0000926 | Platyspondyly | |
Show
|
| HP:0000934 | Chondrocalcinosis | |
Show
|
| HP:0000938 | Osteopenia | "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] |
Show
|
| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
Show
|
| HP:0000944 | Abnormality of the metaphyses | |
Show
|
| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
Show
|
| HP:0000958 | Dry skin | |
Show
|
| HP:0000973 | Cutis laxa | |
Show
|
| HP:0000974 | Hyperextensible skin | |
Show
|
| HP:0000977 | Soft skin | |
Show
|
| HP:0000978 | Ecchymoses | |
Show
|
| HP:0000987 | Scarring | |
Show
|
| HP:0001010 | Hypopigmentation of the skin | |
Show
|
| HP:0001072 | Thickened skin | |
Show
|
| HP:0001156 | Brachydactyly | |
Show
|
| HP:0001241 | Capitate-hamate fusion | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| 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] |
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:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0001265 | Hyporeflexia | |
Show
|
| HP:0001276 | Hypertonia | |
Show
|
| HP:0001278 | Orthostatic hypotension | "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators] |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001328 | Learning disability | |
Show
|
| HP:0001377 | Limited elbow extension | |
Show
|
| HP:0001385 | Hip dysplasia | |
Show
|
| HP:0001388 | Joint laxity | |
Show
|
| HP:0001419 | X-linked recessive inheritance | "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] |
Show
|
| HP:0001511 | Intrauterine growth retardation | |
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:0001582 | Loose, redundant skin | |
Show
|
| HP:0001761 | Pes cavus | |
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:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002017 | Nausea and vomiting | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002028 | Chronic diarrhea | |
Show
|
| HP:0002033 | Poor suck | "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] |
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:0002045 | Hypothermia | |
Show
|
| HP:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] |
Show
|
| HP:0002170 | Intracranial hemorrhage | "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] |
Show
|
| HP:0002208 | Coarse hair | |
Show
|
| HP:0002224 | Woolly hair | |
Show
|
| HP:0002239 | Gastrointestinal hemorrhage | |
Show
|
| HP:0002317 | Unsteady gait | |
Show
|
| HP:0002376 | Developmental regression | |
Show
|
| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
Show
|
| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
Show
|
| HP:0002578 | Gastroparesis | |
Show
|
| HP:0002617 | Aneurysm | |
Show
|
| HP:0002645 | Wormian bones | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
Show
|
| HP:0002705 | High, narrow palate | "The presence of a high and narrow palate." [HPO:curators] |
Show
|
| HP:0002748 | Rickets | |
Show
|
| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
Show
|
| HP:0002754 | Osteomyelitis | |
Show
|
| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
Show
|
| HP:0002797 | Osteolysis | |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0002812 | Coxa vara | |
Show
|
| HP:0002827 | Dislocated hips | |
Show
|
| HP:0002857 | Genu valgum | |
Show
|
| HP:0002862 | Bladder carcinoma | |
Show
|
| HP:0002936 | Distal sensory impairment | |
Show
|
| HP:0002991 | Abnormality of the fibula | |
Show
|
| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
Show
|
| HP:0003019 | Abnormality of the wrist | "Abnormalitly of the wrist, the structure connecting the hand and the forearm." [HPO:curators] |
Show
|
| HP:0003066 | Limited knee extension | |
Show
|
| HP:0003172 | Abnormality of the pubic bones | |
Show
|
| HP:0003276 | Pelvic exostoses | |
Show
|
| HP:0003445 | EMG shows neuropathic changes | |
Show
|
| HP:0003621 | Juvenile onset | |
Show
|
| HP:0003677 | Slow progression | |
Show
|
| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
Show
|
| HP:0003819 | Death in childhood | |
Show
|
| HP:0003874 | Humerus varus | |
Show
|
| HP:0004279 | Hypoplastic hand | |
Show
|
| 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] |
Show
|
| HP:0004408 | Abnormality of the sense of smell | |
Show
|
| HP:0004474 | Persistent open anterior fontanelle | "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [HPO:curators] |
Show
|
| HP:0005054 | Wide metaphyses with lateral spurs | |
Show
|
| HP:0005293 | Frequent early-onset venous insufficiency | |
Show
|
| HP:0005302 | Elongated, tortuous carotid arteries | |
Show
|
| HP:0005344 | Abnormality of the carotid arteries | |
Show
|
| HP:0005599 | Hair hypopigmentation | |
Show
|
| HP:0005692 | Joint hyperflexibility | |
Show
|
| HP:0005743 | Abnormal femoral head with degenerative changes | |
Show
|
| HP:0005792 | Humeral hypoplasia | |
Show
|
| HP:0006000 | Ureteral obstruction | |
Show
|
| HP:0006487 | Bowing of the long bones | |
Show
|
| HP:0006507 | Aplasia/Hypoplasia of the humerus | "Absence or underdevelopment of the humerus." [HPO:curators] |
Show
|
| HP:0006579 | Prolonged neonatal jaundice | |
Show
|
| HP:0006660 | Aplastic clavicles | |
Show
|
| HP:0007269 | Spinal muscular atrophy | "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] |
Show
|
| HP:0007420 | Spontaneous hematomas | |
Show
|
| HP:0008070 | Sparse hair | |
Show
|
| HP:0008368 | Synostosis involving tarsal bones | |
Show
|
| HP:0008818 | Large, flared iliac wings | |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0009556 | Aplasia of the tibia | "Absence of the tibia." [HPO:curators] |
Show
|
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | "Absence or underdevelopment of the abdominal wall musculature." [HPO:curators] |
Show
|
| HP:0010562 | Keloids | "Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair." [MeSH:D007627] |
Show
|
| HP:0012115 | Hepatitis | "Inflammation of the liver." [HPO:probinson] |
Show
|
| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
Show
|
| HP:0100240 | Synostosis of joints | |
Show
|
| HP:0100541 | Femoral hernia | "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken] |
Show
|
| HP:0100545 | Arterial stenosis | |
Show
|
| HP:0100633 | Esophagitis | |
Show
|
| HP:0100777 | Exostoses | |
Show
|
| HP:0100806 | Sepsis | |
Show
|
| HP:0100874 | Thick hair | "Increased density of `hairs` (FMA:53667), i.e., and elevanted number of hairs per unit area." [HPO:probinson] |
Show
|
| HP:0200021 | Rounded shoulders | |
Show
|
