| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| 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:0000044 | Hypogonadotrophic hypogonadism | "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] |
Show
|
| HP:0000046 | Scrotal hypoplasia | |
Show
|
| HP:0000054 | Micropenis | |
Show
|
| HP:0000060 | Hypoplastic clitoris | |
Show
|
| HP:0000064 | Hypoplastic labia minora | |
Show
|
| HP:0000219 | Thin upper lip | |
Show
|
| HP:0000268 | Dolichocephaly | |
Show
|
| HP:0000341 | Narrow forehead | "An abnormally reduced side-to-side width of the forehead." [HPO:curators] |
Show
|
| HP:0000446 | Narrow nasal bridge | |
Show
|
| HP:0000540 | Hypermetropia | |
Show
|
| HP:0000545 | Myopia | |
Show
|
| HP:0000565 | Esotropia | |
Show
|
| HP:0000582 | Upslanting palpebral fissures | |
Show
|
| HP:0000670 | Carious teeth | |
Show
|
| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
Show
|
| HP:0000717 | Autism | |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0000786 | Primary amenorrhea | |
Show
|
| HP:0000789 | Infertility | |
Show
|
| HP:0000823 | Delayed puberty | |
Show
|
| HP:0000824 | Growth hormone deficiency | "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] |
Show
|
| HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
Show
|
| HP:0000842 | Hyperinsulinemia | |
Show
|
| HP:0000846 | Adrenal insufficiency | |
Show
|
| HP:0000876 | Oligomenorrhea | |
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:0000992 | Photosensitivity | "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators] |
Show
|
| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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: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:0001328 | Learning disability | |
Show
|
| HP:0001385 | Hip dysplasia | |
Show
|
| HP:0001531 | Failure to thrive in infancy | |
Show
|
| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
Show
|
| HP:0001611 | Nasal speech | |
Show
|
| HP:0001773 | Short, broad feet | "Abnormally short and wide feet." [HPO:curators] |
Show
|
| HP:0002033 | Poor suck | "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] |
Show
|
| HP:0002119 | Ventriculomegaly | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002236 | Frontal hair upsweep | "A frontal hair upsweep (also known as cowlick) refers to a lock of hair that stands straight up." [HPO:curators] |
Show
|
| HP:0002591 | Polyphagia | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002714 | Downturned corners of mouth | "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson] |
Show
|
| HP:0002791 | Hypoventilation | |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0003199 | Decreased muscle mass | |
Show
|
| HP:0003745 | Sporadic | |
Show
|
| HP:0004279 | Hypoplastic hand | |
Show
|
| HP:0004283 | Narrow 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:0005599 | Hair hypopigmentation | |
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:0005968 | Temperature instability | "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature." [HPO:curators] |
Show
|
| HP:0005978 | Noninsulin-dependent diabetes mellitus | |
Show
|
| HP:0007010 | Poor fine motor coordination | |
Show
|
| HP:0007015 | Poor fine and gross motor coordination | |
Show
|
| 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] |
Show
|
| HP:0007328 | Decreased pain sensation | "Reduced ability to perceive painful stimuli." [HPO:curators] |
Show
|
| HP:0007513 | Generalized hypopigmentation | |
Show
|
| HP:0007730 | Reduced iris pigmentation | |
Show
|
| HP:0007874 | Almond-shaped palpebral fissures | |
Show
|
| HP:0009466 | Radial deviation of fingers | |
Show
|
| HP:0010314 | Premature thelarche | "Premature development of the breasts." [HPO:curators] |
Show
|
| HP:0010535 | Sleep apnea | "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] |
Show
|
| HP:0012743 | Abdominal obesity | "Excessive fat around the stomach and abdomen." [HPO:probinson] |
Show
|
| HP:0030084 | Clinodactyly | "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] |
Show
|
| HP:0200055 | Small hands | |
Show
|
