| 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:0000023 | Inguinal hernia | |
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:0000253 | Microcephaly, progressive | "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators] |
Show
|
| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
Show
|
| HP:0000316 | Hypertelorism | |
Show
|
| HP:0000319 | Flat philtrum | |
Show
|
| HP:0000343 | Long philtrum | |
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:0000455 | Broad nasal tip | |
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:0000621 | Entropion | "An abnormal turning inward of the upper and/or lower eyelid." [HPO:sdoelken] |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000670 | Carious teeth | |
Show
|
| HP:0000678 | Dental overcrowding | |
Show
|
| HP:0000726 | Dementia | |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0001188 | Clenched hands | |
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: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:0001270 | Motor retardation | |
Show
|
| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
Show
|
| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
Show
|
| HP:0001305 | Dandy-Walker malformation | "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman s terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the body s ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:curators] |
Show
|
| HP:0001321 | Cerebellar hypoplasia | |
Show
|
| HP:0001374 | Congenital hip dislocation | |
Show
|
| HP:0001385 | Hip dysplasia | |
Show
|
| HP:0001388 | Joint laxity | |
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:0001511 | Intrauterine growth retardation | |
Show
|
| 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] |
Show
|
| HP:0001601 | Laryngomalacia | |
Show
|
| HP:0001631 | Atrial septal defect | "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] |
Show
|
| HP:0001634 | Mitral valve prolapse | |
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: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: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] |
Show
|
| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
Show
|
| HP:0002208 | Coarse hair | |
Show
|
| HP:0002361 | Psychomotor degeneration | |
Show
|
| HP:0002465 | Poor speech | |
Show
|
| HP:0002751 | Kyphoscoliosis | |
Show
|
| HP:0002761 | Generalized joint laxity | "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] |
Show
|
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin | |
Show
|
| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
Show
|
| HP:0003199 | Decreased muscle mass | |
Show
|
| HP:0003758 | Reduced subcutaneous adipose tissue | "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators] |
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:0004325 | Decreased body weight | |
Show
|
| HP:0005180 | Tricuspid insufficiency | |
Show
|
| HP:0005272 | Prominent nasolabial folds | |
Show
|
| HP:0005989 | Redundant neck skin | |
Show
|
| HP:0006380 | Knee flexion deformities | |
Show
|
| HP:0006891 | Thick cerebral cortex | |
Show
|
| HP:0007392 | Excessive wrinkled skin | |
Show
|
| HP:0007457 | Prominent thoracic and abdominal veins | |
Show
|
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | |
Show
|
| HP:0008070 | Sparse hair | |
Show
|
| HP:0008689 | Bilateral cryptorchidism | |
Show
|
| HP:0008897 | Growth retardation, progressive | |
Show
|
| HP:0008947 | Infantile muscular hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] |
Show
|
| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
Show
|
| HP:0009933 | Naris, narrow | "Slender, slit-like aperture of the `nostril` (FMA:59645)." [HPO:curators] |
Show
|
| HP:0010761 | Columella, broad | "Increased width of the columella." [pmid:19152422] |
Show
|
| HP:0010989 | Abnormality of the intrinsic pathway | "An abnormality of the `intrinsic pathway` (GO:0007597) (also known as the contact activation pathway) of the coagulation cascade." [HPO:probinson] |
Show
|
| HP:0011003 | Severe Myopia | |
Show
|
| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
Show
|
| HP:0025167 | Fragmented elastic fibers in the dermis | "Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers." [] |
Show
|
| HP:0025201 | Abnormal apolipoprotein level | "A deviation from the normal concentration in blood of an apolipoprotin, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation." [] |
Show
|
| HP:0025244 | Subretinal pigment epithelium hemorrhage | "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch s membrane." [] |
Show
|
| HP:0100874 | Thick hair | "Increased density of `hairs` (FMA:53667), i.e., and elevanted number of hairs per unit area." [HPO:probinson] |
Show
|
