| 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:0000023 | Inguinal hernia | |
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| 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] |
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| HP:0000160 | Microstomia | "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators] |
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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: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] |
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| HP:0000253 | Microcephaly, progressive | "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators] |
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| HP:0000260 | Wide anterior fontanel | "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] |
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| 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] |
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| HP:0000272 | Malar hypoplasia | "Underdeveloped midface region." [HPO:curators] |
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| 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] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000319 | Flat philtrum | |
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| HP:0000343 | Long philtrum | |
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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:0000431 | Broad nasal bridge | "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] |
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| HP:0000455 | Broad nasal tip | |
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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: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:0000545 | Myopia | |
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| HP:0000670 | Carious teeth | |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000691 | Microdontia | |
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| HP:0000726 | Dementia | |
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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: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] |
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| HP:0000973 | Cutis laxa | |
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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: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: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] |
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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:0001270 | Motor retardation | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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| 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] |
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| HP:0001321 | Cerebellar hypoplasia | |
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| HP:0001350 | Slurred speech | |
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| HP:0001374 | Congenital hip dislocation | |
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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: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] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001511 | Intrauterine growth retardation | |
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| 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] |
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| HP:0001582 | Loose, redundant skin | |
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| HP:0001611 | Nasal speech | |
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| 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] |
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| 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] |
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| HP:0001788 | Premature rupture of membranes | "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [HPO:probinson] |
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| HP:0001799 | Short nails | |
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| HP:0001808 | Fragile nails | |
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| HP:0001869 | Deep plantar creases | |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002073 | Progressive cerebellar ataxia | |
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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:0002133 | Status epilepticus | |
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| HP:0002187 | Mental retardation, profound | "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] |
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| HP:0002208 | Coarse hair | |
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| HP:0002361 | Psychomotor degeneration | |
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| HP:0002465 | Poor speech | |
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| HP:0002645 | Wormian bones | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| 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] |
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| HP:0002808 | Kyphosis | |
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| HP:0002812 | Coxa vara | |
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| HP:0003100 | Thin long bones | |
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| HP:0003160 | Abnormal isoelectric focusing of serum transferrin | |
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| HP:0003196 | Nasal hypoplasia | "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] |
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| HP:0003199 | Decreased muscle mass | |
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| HP:0003691 | Scapular winging | |
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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:0004426 | Abnormality of the cheeks | |
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| HP:0004993 | slender long bones with narrow diaphyses | |
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| HP:0005272 | Prominent nasolabial folds | |
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| HP:0005425 | Recurrent sinopulmonary infections | |
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| HP:0005989 | Redundant neck skin | |
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| HP:0006114 | Multiple palmar creases | |
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| HP:0006191 | Deep palmar creases | "An increased depth of the palmar creases." [HPO:curators] |
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| HP:0006891 | Thick cerebral cortex | |
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| HP:0007392 | Excessive wrinkled skin | |
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| HP:0007407 | Excessive skin wrinkling on dorsum of hands and fingers | |
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| HP:0007414 | Neonatal wrinkled skin of hands and feet | |
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| HP:0007457 | Prominent thoracic and abdominal veins | |
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| HP:0007517 | Cutis laxa, hands and feet | |
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| HP:0007552 | Abnormal subcutaneous fat tissue distribution | |
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| HP:0008070 | Sparse hair | |
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| HP:0008113 | Multiple plantar creases | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0008897 | Growth retardation, progressive | |
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| HP:0008947 | Infantile muscular hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] |
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| HP:0009004 | Muscle hypoplasia | "Underdevelopment of the musculature." [HPO:curators] |
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| HP:0009125 | Lipodystrophy | "Degenerative changes of the fat tissue." [HPO:curators] |
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| HP:0010719 | Abnormality of hair texture | "An abnormality of the texture of the `hair` (FMA:53667)." [HPO:probinson] |
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| HP:0010838 | High nonceruloplasmin-bound serum copper | "An `increased concentration` (PATO:0001162) of non `ceruloplasmin` (PR:000005794) bound `copper` (CHEBI:28694) in the `blood` (FMA:9670)." [HPO:probinson] |
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| 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] |
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| HP:0011003 | Severe Myopia | |
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| 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] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0011995 | Atrial septal aneurysm | "A bulging of the `interatrial septum` (FMA:7108) towards one side. IN adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography." [HPO:probinson, pmid:7758185] |
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| HP:0012368 | Flat face | "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] |
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| 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." [] |
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| 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." [] |
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| HP:0025244 | Subretinal pigment epithelium hemorrhage | "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch s membrane." [] |
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| HP:0100874 | Thick hair | "Increased density of `hairs` (FMA:53667), i.e., and elevanted number of hairs per unit area." [HPO:probinson] |
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| HP:0200141 | Small, conical teeth | |
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