HP:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
Show
|
HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
Show
|
HP:0000071 | Ureteral stenosis | |
Show
|
HP:0000072 | Hydroureter | "The distention of the ureter with urine." [HPO:curators] |
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:0000126 | Hydronephrosis | |
Show
|
HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
Show
|
HP:0000162 | Glossoptosis | |
Show
|
HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
Show
|
HP:0000190 | Frenular abnormality | "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth." [HPO:probinson] |
Show
|
HP:0000201 | Pierre-Robin sequence | |
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:0000238 | Hydrocephalus | |
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:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [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:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
Show
|
HP:0000274 | Small face | |
Show
|
HP:0000280 | Coarse facial features | |
Show
|
HP:0000283 | Broad face | |
Show
|
HP:0000293 | Full cheeks | |
Show
|
HP:0000307 | Pointed chin | |
Show
|
HP:0000316 | Hypertelorism | |
Show
|
HP:0000319 | Flat philtrum | |
Show
|
HP:0000324 | Facial asymmetry | |
Show
|
HP:0000331 | Small chin | |
Show
|
HP:0000336 | Prominent supraorbital ridges | "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] |
Show
|
HP:0000337 | Broad forehead | "Abnormally large side-to-side distance of the forehead." [HPO:curators] |
Show
|
HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
HP:0000358 | Posteriorly rotated ears | "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson] |
Show
|
HP:0000365 | Hearing loss | |
Show
|
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] |
Show
|
HP:0000377 | Abnormal form of ears | "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] |
Show
|
HP:0000400 | Large ears | |
Show
|
HP:0000403 | Recurrent otitis media | |
Show
|
HP:0000405 | Hearing loss, conductive | |
Show
|
HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
Show
|
HP:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
Show
|
HP:0000472 | Long neck | |
Show
|
HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
HP:0000494 | Downward slanting palpebral fissures | |
Show
|
HP:0000508 | Ptosis | "Drooping of the eyelid." [HPO:curators] |
Show
|
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] |
Show
|
HP:0000520 | Proptosis | |
Show
|
HP:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
Show
|
HP:0000674 | Anodontia | "The congenital absence of all teeth." [HPO:curators] |
Show
|
HP:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] |
Show
|
HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
Show
|
HP:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
Show
|
HP:0000692 | Misalignment of teeth | |
Show
|
HP:0000750 | Impaired language development | |
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:0000772 | Abnormality of the ribs | |
Show
|
HP:0000773 | Short ribs | |
Show
|
HP:0000774 | Narrow chest | |
Show
|
HP:0000882 | Hypoplastic scapulae | |
Show
|
HP:0000894 | Short clavicles | |
Show
|
HP:0000926 | Platyspondyly | |
Show
|
HP:0000944 | Abnormality of the metaphyses | |
Show
|
HP:0000946 | Hypoplastic ilia | |
Show
|
HP:0000963 | Thin skin | |
Show
|
HP:0001000 | Abnormality of skin pigmentation | |
Show
|
HP:0001006 | Hypotrichosis | "Reduced or lacking hair growth." [HPO:curators] |
Show
|
HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
Show
|
HP:0001087 | Congenital glaucoma | |
Show
|
HP:0001156 | Brachydactyly | |
Show
|
HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
Show
|
HP:0001163 | Abnormality of the metacarpal bones | |
Show
|
HP:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
Show
|
HP:0001239 | Wrist contractures | |
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:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [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:0001264 | Spastic diplegia | "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] |
Show
|
HP:0001270 | Motor retardation | |
Show
|
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] |
Show
|
HP:0001297 | Stroke | |
Show
|
HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
Show
|
HP:0001321 | Cerebellar hypoplasia | |
Show
|
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] |
Show
|
HP:0001374 | Congenital hip dislocation | |
Show
|
HP:0001376 | Decreased mobility of joints | |
Show
|
HP:0001377 | Limited elbow extension | |
Show
|
HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
Show
|
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] |
Show
|
HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
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:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
Show
|
HP:0001476 | Delayed closure of the anterior fontanelle | "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:curators] |
Show
|
HP:0001508 | Failure to thrive | |
Show
|
HP:0001539 | Omphalocele | |
Show
|
HP:0001571 | Multiple impacted teeth | |
Show
|
HP:0001592 | Selective tooth agenesis | |
Show
|
HP:0001607 | Subglottic stenosis | |
Show
|
HP:0001609 | Hoarse voice | |
Show
|
HP:0001634 | Mitral valve prolapse | |
Show
|
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] |
Show
|
HP:0001643 | Patent ductus arteriosus | |
Show
|
HP:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
Show
|
HP:0001648 | Cor pulmonale | |
Show
|
HP:0001653 | Mitral regurgitation | "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] |
Show
|
HP:0001654 | Abnormality of the heart valves | "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] |
Show
|
HP:0001659 | Aortic insufficiency | "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators] |
Show
|
HP:0001671 | Abnormality of the cardiac septa | |
Show
|
HP:0001704 | Tricuspid valve prolapse | |
Show
|
HP:0001762 | Talipes equinovarus | "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators] |
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: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] |
Show
|
HP:0001782 | Tree-frog feet | |
Show
|
HP:0001831 | Brachydactyly (feet) | |
Show
|
HP:0001833 | Large feet | |
Show
|
HP:0001836 | Camptodactyly (feet) | |
Show
|
HP:0001838 | Vertical talus | |
Show
|
HP:0001850 | Abnormality of the tarsal bones | "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [HPO:curators] |
Show
|
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] |
Show
|
HP:0001863 | Clinodactyly (feet) | |
Show
|
HP:0001873 | Thrombocytopenia | |
Show
|
HP:0001892 | Bleeding diathesis | "An abnormal susceptibility to bleeding because of a defect in coagulation." [HPO:curators] |
Show
|
HP:0001939 | Metabolism abnormality | |
Show
|
HP:0001999 | Facial dysmorphism | |
Show
|
HP:0002003 | Large forehead | |
Show
|
HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
HP:0002013 | Vomiting | |
Show
|
HP:0002019 | Constipation | |
Show
|
HP:0002020 | Gastroesophageal reflux | |
Show
|
HP:0002021 | Pyloric stenosis | |
Show
|
HP:0002084 | Encephalocele | |
Show
|
HP:0002089 | Pulmonary hypoplasia | |
Show
|
HP:0002092 | Pulmonary hypertension | |
Show
|
HP:0002093 | Respiratory insufficiency | |
Show
|
HP:0002164 | Nail dysplasia | |
Show
|
HP:0002205 | Recurrent respiratory infections | |
Show
|
HP:0002208 | Coarse hair | |
Show
|
HP:0002269 | Neuronal migration disorder | |
Show
|
HP:0002282 | Heterotopia | |
Show
|
HP:0002475 | Meningomyelocele | |
Show
|
HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
Show
|
HP:0002645 | Wormian bones | |
Show
|
HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
HP:0002652 | Skeletal dysplasia | |
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:0002684 | Thickened calvaria | "The presence of an abnormally thick calvaria." [HPO:curators] |
Show
|
HP:0002688 | Absent frontal sinuses | |
Show
|
HP:0002694 | Sclerotic skull base | |
Show
|
HP:0002700 | Large foramen magnum | "An abnormal increase in the size of the foramen magnum." [HPO:curators] |
Show
|
HP:0002737 | Thick skull base | |
Show
|
HP:0002738 | Hypoplastic frontal sinuses | |
Show
|
HP:0002751 | Kyphoscoliosis | |
Show
|
HP:0002777 | Tracheal stenosis | |
Show
|
HP:0002827 | Dislocated hips | |
Show
|
HP:0002828 | Multiple joint contractures | |
Show
|
HP:0002857 | Genu valgum | |
Show
|
HP:0002869 | Flared iliac wings | |
Show
|
HP:0002878 | Early respiratory failure | |
Show
|
HP:0002879 | Anisospondyly | |
Show
|
HP:0002949 | Fused cervical vertebrae | |
Show
|
HP:0002980 | Femoral bowing | "Bowing (abnormal curvature) of the femur." [HPO:curators] |
Show
|
HP:0002982 | Tibial bowing | "A developmental defect with posteromedial tibial angulation." [HPO:curators] |
Show
|
HP:0002986 | Radial bowing | |
Show
|
HP:0002987 | Elbow contractures | |
Show
|
HP:0002990 | Fibular aplasia | "Absence of the fibula." [HPO:curators] |
Show
|
HP:0002999 | Dislocation of patella | "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:curators] |
Show
|
HP:0003015 | Metaphyseal flaring | "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] |
Show
|
HP:0003031 | Ulnar bowing | "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators] |
Show
|
HP:0003042 | Elbow dislocation | "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] |
Show
|
HP:0003083 | Dislocated radial head | "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] |
Show
|
HP:0003103 | Abnormality of cortical bone | "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] |
Show
|
HP:0003172 | Abnormality of the pubic bones | |
Show
|
HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
Show
|
HP:0003256 | Abnormalities of the clotting factors | |
Show
|
HP:0003270 | Abdominal distention | "Enlargement or distention of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] |
Show
|
HP:0003304 | Spondylolysis | |
Show
|
HP:0003312 | Abnormal form of the vertebral bodies | |
Show
|
HP:0003593 | Early onset | |
Show
|
HP:0003691 | Scapular winging | |
Show
|
HP:0003779 | Antegonial notching of mandible | |
Show
|
HP:0003826 | Stillborn or neonatal death | |
Show
|
HP:0003834 | Shoulder dislocation | "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [HPO:curators] |
Show
|
HP:0004232 | Accessory carpal bones | "The presence of more than the normal number of carpal bones." [HPO:curators] |
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:0004389 | Intestinal pseudo-obstruction | |
Show
|
HP:0004493 | Craniofacial hyperostosis | "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] |
Show
|
HP:0004608 | Anteriorly placed odontoid process | |
Show
|
HP:0004611 | Anterior concavity of thoracic vertebrae | |
Show
|
HP:0004942 | Aortic aneurysms | |
Show
|
HP:0004987 | Mesomelia of the lower limbs | "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [HPO:sdoelken] |
Show
|
HP:0005011 | Mesomelia of the upper limbs | "Shortening of the middle parts of the arm in relation to the upper and terminal segments." [HPO:sdoelken] |
Show
|
HP:0005048 | fusion of carpal bones, especially capitate and hamate | |
Show
|
HP:0005090 | lateral femoral bowing | |
Show
|
HP:0005180 | Tricuspid insufficiency | |
Show
|
HP:0005245 | Hypoplastic intestines | |
Show
|
HP:0005280 | Depressed nasal root and bridge | |
Show
|
HP:0005446 | Small mandible with obtuse angle | |
Show
|
HP:0005453 | Absent/hypoplastic paranasal sinuses | |
Show
|
HP:0005616 | Accelerated skeletal maturation | "An abnormally increased rate of skeletal maturation. Accelerated 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] |
Show
|
HP:0005640 | Abnormal vertebral segmentation and fusion | |
Show
|
HP:0005692 | Joint hyperflexibility | |
Show
|
HP:0005792 | Humeral hypoplasia | |
Show
|
HP:0006000 | Ureteral obstruction | |
Show
|
HP:0006155 | Wide and elongated phalanges | |
Show
|
HP:0006160 | Hypoplastic, irregular metacarpals | |
Show
|
HP:0006207 | Partial fusion of carpals | |
Show
|
HP:0006335 | Delayed loss of deciduous teeth | |
Show
|
HP:0006380 | Knee flexion deformities | |
Show
|
HP:0006381 | Rudimentary fibula | |
Show
|
HP:0006389 | Limited knee flexion | |
Show
|
HP:0006440 | Increased density of long bone diaphyses | |
Show
|
HP:0006466 | Contractures of the ankles | |
Show
|
HP:0006482 | Abnormality of dental morphology | |
Show
|
HP:0006487 | Bowing of the long bones | |
Show
|
HP:0006665 | Coat hanger deformity of lower ribs | |
Show
|
HP:0006692 | Short and irregular chordae | |
Show
|
HP:0006695 | Tricuspid and mitral valves are replaced by a single inlet valve | |
Show
|
HP:0007165 | Periventricular gray matter heterotopias | "A form of gray matter heterotopia were the mislocalised gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. They can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome." [HPO:curators] |
Show
|
HP:0007359 | Partial seizures | "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators] |
Show
|
HP:0008087 | Nonossified fifth metatarsal | "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible." [HPO:curators] |
Show
|
HP:0008089 | Anomalous fifth metatarsal | |
Show
|
HP:0008097 | Partial fusion of tarsals | |
Show
|
HP:0008127 | Bipartite calcaneus | "Bipartite calcaneus is a rarely observed radiographic finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [HPO:curators] |
Show
|
HP:0008368 | Synostosis involving tarsal bones | |
Show
|
HP:0008404 | Nail dystrophy, variable | |
Show
|
HP:0008451 | Posterior vertebral hypoplasia | |
Show
|
HP:0008661 | Urethral stenosis | |
Show
|
HP:0008872 | Feeding problems in infancy | |
Show
|
HP:0008897 | Growth retardation, progressive | |
Show
|
HP:0009004 | Muscle hypoplasia | "Underdevelopment of the musculature." [HPO:curators] |
Show
|
HP:0009465 | Ulnar deviation of fingers | |
Show
|
HP:0009467 | Radial deviation of the 2nd finger | "Displacement of the 2nd finger towards the radial side." [HPO:curators] |
Show
|
HP:0009623 | Proximally placed thumb | "Proximally displaced thumb." [HPO:curators] |
Show
|
HP:0009642 | Broad distal phalanx of the thumb | "Increased width of the distal phalanx of the thumb." [HPO:curators] |
Show
|
HP:0009650 | Hypoplastic/small distal phalanx of the thumb | "Hypoplastic/small distal/terminal phalanx of the thumb." [HPO:curators] |
Show
|
HP:0009768 | Broad phalanges of the hand | "Increased width of the phalanges of the hand." [HPO:curators] |
Show
|
HP:0009771 | Osteolytic defects of the phalanges of the hand | "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators] |
Show
|
HP:0009778 | Hypoplastic/small thumb | |
Show
|
HP:0009804 | Reduced number of teeth | |
Show
|
HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
Show
|
HP:0010041 | Hypoplastic/short 3rd metacarpal | |
Show
|
HP:0010044 | Hypoplastic/short 4th metacarpal | |
Show
|
HP:0010047 | Hypoplastic/short 5th metacarpal | |
Show
|
HP:0010049 | Hypoplastic/short metacarpal bones | |
Show
|
HP:0010055 | Broad hallux | |
Show
|
HP:0010103 | Hypoplastic/small distal phalanx of the hallux | |
Show
|
HP:0010109 | Hypoplastic/small hallux | |
Show
|
HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a ball-in-a-socket appearance. The related entity angel-shaped epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] |
Show
|
HP:0010306 | Short thorax | "Reduced inferior to superior extent of the thorax." [HPO:curators] |
Show
|
HP:0010307 | Stridor | "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators] |
Show
|
HP:0010493 | Increased length of metacarpals | "An abnormally increased length of the metacarpal bones." [HPO:curators] |
Show
|
HP:0010557 | Overlapping fingers | "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [HPO:curators] |
Show
|
HP:0010559 | Vertical clivus | "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [HPO:curators] |
Show
|
HP:0010560 | Undulate clavicles | "An abnormally wavy surface or edge of the clavicles." [HPO:curators] |
Show
|
HP:0010614 | Fibroma | "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors." [HPO:curators] |
Show
|
HP:0010660 | Abnormality of the mineralisation and ossification of bones of the hand | |
Show
|
HP:0010675 | Abnormality of the mineralisation and ossification of bones of the feet | |
Show
|
HP:0010743 | Hypoplasia of the metatarsal bones | |
Show
|
HP:0011001 | Increased bone mineral density | "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:curators] |
Show
|
HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
Show
|
HP:0011246 | Underdeveloped superior crus of antihelix | "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [pmid:19152421] |
Show
|
HP:0011304 | Broad thumb | "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] |
Show
|
HP:0011335 | Frontal hirsutism | "Excessive amount of hair growth on forehead." [DDD:jclayton-smith] |
Show
|
HP:0011355 | Localized skin lesion | "A lesion of the skin that is located in a specific region rather than being generalized." [DDD:cmoss] |
Show
|
HP:0011580 | Short chordae tendineae of the mitral valve | "Abnormally short `chordae tendineae` (FMA:76527) of the mitral valve." [HPO:probinson] |
Show
|
HP:0011800 | Midface retrusion | "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith] |
Show
|
HP:0011877 | Increased mean platelet volume | "Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand] |
Show
|
HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
Show
|
HP:0030889 | Congenital shortened small intestine | "Substantially shortened length of the small intestine as a result of a developmental defect." [PMID:18209785] |
Show
|
HP:0040309 | Increased size of the mandible | |
Show
|
HP:0100258 | Preaxial polydactyly | "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] |
Show
|
HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
Show
|
HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
Show
|
HP:0100578 | Lipoatrophy | "Localized loss of fat tissue." [HPO:sdoelken] |
Show
|
HP:0100627 | Displacement of the external urethral meatus | "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken] |
Show
|
HP:0100790 | Hernia | |
Show
|
HP:0100807 | Long fingers | "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433] |
Show
|