| HP:0000202 | Cleft lip/palate | |
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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:0000364 | Hearing abnormality | |
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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:0000491 | Keratitis | "Inflammation of the cornea." [HPO:curators] |
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| HP:0000505 | Impaired vision | |
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| 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] |
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| HP:0000532 | Chorioretinal abnormality | |
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| HP:0000541 | Detached retina | |
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| HP:0000554 | Uveitis | "Inflammation of one or all portions of the uveal tract." [HPO:curators] |
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| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
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| HP:0000573 | Retinal hemorrhage | |
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| HP:0000592 | Blue sclerae | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000668 | Hypodontia | "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] |
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| HP:0000682 | Abnormality of dental enamel | "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] |
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| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
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| HP:0000698 | Conical teeth | |
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| HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| HP:0000958 | Dry skin | |
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| HP:0000962 | Hyperkeratosis | "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] |
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| HP:0000968 | Ectodermal dysplasia | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0000988 | Skin rash | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001004 | Lymphedema | |
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| HP:0001053 | Hypopigmented skin patches | |
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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: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] |
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| 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] |
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| 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] |
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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:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| 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] |
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| HP:0001803 | Nail pitting | |
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| HP:0001804 | Hypoplastic fingernails | "Underdeveloped fingernails." [HPO:curators] |
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| HP:0001805 | Thickened nails | |
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| HP:0001807 | Nail ridging | |
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| HP:0001810 | Dystrophic toenails | |
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| HP:0001821 | Broad nails | |
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| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002208 | Coarse hair | |
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| HP:0002213 | Fine hair | |
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| HP:0002383 | Encephalitis | |
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| HP:0002557 | Hypoplastic nipples | |
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| HP:0002558 | Supernumerary nipples | |
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| HP:0002637 | Cerebral ischemia | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002719 | Recurrent infections | |
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| HP:0002720 | Decreased IgA | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002797 | Osteolysis | |
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| HP:0002847 | Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation | |
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| HP:0002937 | Hemivertebrae | |
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| HP:0002961 | Dysgammaglobulinemia | |
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| HP:0003187 | Breast hypoplasia | |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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| HP:0003496 | Increased IgM level | "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson] |
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| HP:0004050 | Absent hands | |
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| HP:0004097 | Deviated fingers | "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [HPO:curators] |
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| HP:0004315 | Decreased IgG level | "An abnormally decreased level of immunoglobulin G in blood." [HPO:probinson] |
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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:0004374 | Hemiplegia/hemiparesis | "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] |
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| HP:0004529 | atrophic, patchy alopecia | |
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| HP:0005366 | Increased susceptibility to streptococcus pneumoniae infections | |
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| HP:0005815 | Supernumerary ribs | |
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| HP:0005922 | Abnormal hand morphology | |
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| HP:0006101 | Finger syndactyly | "Webbing or fusion of the fingers, 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 fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0006482 | Abnormality of dental morphology | |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0007400 | Irregular hyperpigmentation | |
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| HP:0007750 | Foveal hypoplasia | |
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| HP:0007850 | Retinal vascular proliferation | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008066 | Abnormal blistering of the skin | |
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| HP:0008070 | Sparse hair | |
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| HP:0008402 | Longitudinally grooved fingernails | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0010783 | Erythema | "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] |
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| HP:0011002 | Osteopetrosis | |
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| HP:0011065 | Conical incisor | "An abnormal `conical` (PATO:0002021) morphology of the `incisor tooth` (FMA:12823)." [HPO:ibailleulforestier] |
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| HP:0011275 | Recurrent mycobacterium avium complex infections | "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
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| HP:0100555 | Asymmetric growth | |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100699 | Scarring | |
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| HP:0100783 | Breast aplasia | |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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| HP:0200043 | verrucae | "Benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:SKOEHLER] |
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