| HP:0000023 | Inguinal hernia | |
Show
|
| HP:0000027 | Azoospermia | |
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:0000083 | Renal failure | |
Show
|
| HP:0000091 | Abnormality of the renal tubules | |
Show
|
| HP:0000093 | Proteinuria | |
Show
|
| HP:0000114 | Proximal renal tubule defect | |
Show
|
| HP:0000121 | Nephrocalcinosis | |
Show
|
| HP:0000189 | Narrow palate | "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] |
Show
|
| HP:0000194 | Open mouth | |
Show
|
| HP:0000219 | Thin upper lip | |
Show
|
| HP:0000230 | Gingivitis | |
Show
|
| HP:0000232 | Everted lower lip | |
Show
|
| HP:0000276 | Long face | |
Show
|
| HP:0000293 | Full cheeks | |
Show
|
| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
Show
|
| HP:0000343 | Long philtrum | |
Show
|
| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
Show
|
| HP:0000368 | Low-set, posteriorly rotated ears | |
Show
|
| HP:0000389 | Chronic otitis media | |
Show
|
| HP:0000411 | Protruding ears | |
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:0000490 | Deep set eyes | |
Show
|
| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
Show
|
| HP:0000505 | Impaired vision | |
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:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
Show
|
| HP:0000557 | Buphthalmos | "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek bous or ox and ophthalmos or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched." [HPO:curators] |
Show
|
| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
|
| HP:0000582 | Upslanting palpebral fissures | |
Show
|
| HP:0000615 | Abnormality of the pupils | |
Show
|
| HP:0000632 | Lacrimation abnormality | |
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:0000646 | Amblyopia | "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators] |
Show
|
| HP:0000670 | Carious teeth | |
Show
|
| HP:0000678 | Dental overcrowding | |
Show
|
| HP:0000679 | Taurodontia | |
Show
|
| 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] |
Show
|
| HP:0000684 | Delayed dentition | "Delayed eruption of teeth." [HPO:curators] |
Show
|
| HP:0000704 | Periodontal disease | |
Show
|
| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
Show
|
| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
Show
|
| HP:0000722 | Obsessive-compulsive disorder | |
Show
|
| HP:0000733 | Stereotyped, repetitive behaviour | |
Show
|
| HP:0000739 | Anxiety | |
Show
|
| HP:0000772 | Abnormality of the ribs | |
Show
|
| HP:0000787 | Kidney stones | |
Show
|
| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
Show
|
| HP:0000823 | Delayed puberty | |
Show
|
| HP:0000843 | Hyperparathyroidism | |
Show
|
| HP:0000859 | Increased plasma aldosterone | |
Show
|
| HP:0000873 | Diabetes insipidus | "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] |
Show
|
| HP:0000926 | Platyspondyly | |
Show
|
| HP:0000944 | Abnormality of the metaphyses | |
Show
|
| HP:0000987 | Scarring | |
Show
|
| HP:0001225 | Wrist swelling | |
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: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:0001284 | Areflexia | |
Show
|
| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
Show
|
| HP:0001369 | Arthritis | |
Show
|
| HP:0001382 | Joint hypermobility | "The ability of a joint to move beyond its normal range of motion." [HPO:curators] |
Show
|
| HP:0001386 | Joint swelling | |
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: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:0001482 | Subcutaneous nodules | |
Show
|
| HP:0001508 | Failure to thrive | |
Show
|
| HP:0001522 | Death in infancy | |
Show
|
| 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] |
Show
|
| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
Show
|
| HP:0001873 | Thrombocytopenia | |
Show
|
| HP:0001903 | Anemia | |
Show
|
| HP:0001944 | Dehydration | |
Show
|
| HP:0001994 | Renal Fanconi syndrome | |
Show
|
| HP:0002002 | Deep philtrum | |
Show
|
| HP:0002007 | Frontal bossing | "The presence of an unusually prominent forehead." [HPO:curators] |
Show
|
| HP:0002019 | Constipation | |
Show
|
| HP:0002020 | Gastroesophageal reflux | |
Show
|
| HP:0002024 | Malabsorption | |
Show
|
| HP:0002049 | Proximal renal tubular acidosis | |
Show
|
| HP:0002093 | Respiratory insufficiency | |
Show
|
| HP:0002119 | Ventriculomegaly | |
Show
|
| HP:0002148 | Hypophosphatemia | "A lower than normal level of blood phosphate." [HPO:curators] |
Show
|
| HP:0002150 | Hypercalciuria | |
Show
|
| HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
Show
|
| HP:0002169 | Clonus | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002209 | Sparse scalp hair | "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson] |
Show
|
| HP:0002213 | Fine hair | |
Show
|
| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
Show
|
| HP:0002357 | Dysphasia | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002748 | Rickets | |
Show
|
| HP:0002749 | Osteomalacia | "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] |
Show
|
| HP:0002756 | Pathologic fracture | "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] |
Show
|
| HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0002827 | Dislocated hips | |
Show
|
| HP:0002857 | Genu valgum | |
Show
|
| HP:0002900 | Hypokalemia | |
Show
|
| HP:0002902 | Hyponatremia | |
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:0003109 | Hyperphosphaturia | "An increased excretion of phosphates in the urine." [HPO:curators] |
Show
|
| HP:0003124 | Hypercholesterolemia | |
Show
|
| HP:0003126 | Low-molecular-weight proteinuria | |
Show
|
| HP:0003148 | Elevated serum acid phosphatase | |
Show
|
| HP:0003236 | Elevated serum creatine phosphokinase | |
Show
|
| HP:0003355 | Abnormal urinary amino-acid findings | |
Show
|
| HP:0003646 | Bicarbonaturia | |
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:0004639 | Elevated amniotic fluid alpha-fetoprotein | "An elevation of alpha-feto protein measured in the amniotic fluid." [HPO:curators] |
Show
|
| HP:0005469 | Occipital plagiocephaly | "Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone." [HPO:curators] |
Show
|
| HP:0005562 | Multiple renal cysts | |
Show
|
| HP:0005692 | Joint hyperflexibility | |
Show
|
| HP:0005930 | Abnormality of the epiphyses | |
Show
|
| HP:0005984 | Elevated maternal serum alpha-fetoprotein | "An elevation of alpha-feto protein in the maternal serum." [HPO:curators] |
Show
|
| HP:0006297 | Hypoplastic dental enamel | |
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:0007109 | Periventricular cysts | |
Show
|
| HP:0007513 | Generalized hypopigmentation | |
Show
|
| HP:0007663 | Decreased central vision | |
Show
|
| HP:0007731 | Chorioretinal dysplasia | |
Show
|
| HP:0007948 | Dense, posterior cortical cataract | |
Show
|
| HP:0007957 | Variable degree of corneal opacities | |
Show
|
| HP:0008069 | Neoplasia of the skin | |
Show
|
| HP:0008872 | Feeding problems in infancy | |
Show
|
| HP:0009473 | Joint contractures involving the joints of the hand | |
Show
|
| HP:0009804 | Reduced number of teeth | |
Show
|
| HP:0010471 | Oligosacchariduria | "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins." [HPO:curators] |
Show
|
| HP:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
Show
|
| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
Show
|
| HP:0011527 | Lentiglobus | "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging." [DDD:gblack] |
Show
|
| HP:0012622 | Chronic kidney disease | "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] |
Show
|
| HP:0025131 | Finger swelling | "Enlargement of the soft tissues of one or more fingers." [PMID:16269085, PMID:19946526, PMID:24758199, PMID:9715244] |
Show
|
| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
Show
|
| HP:0100493 | Hypoammonemia | "A decreased concentration of `ammonia` (CHEBI:16134) in the `blood` (FMA:9670)." [HPO:gcarletti] |
Show
|
| HP:0100512 | Vitamin D deficiency | |
Show
|
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
Show
|
| HP:0100543 | Cognitive impairment | "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] |
Show
|
| HP:0100589 | Urogenital fistula | "The presence of a `fistula` (MPATH:70) affecting the `genitourinary system` (FMA:280610)." [HPO:probinson] |
Show
|
| HP:0100612 | Odontogenic neoplasm | "Neoplasm involving odontogenic cells, an `odontogenic tumor` (MPATH:379)." [HPO:sdoelken] |
Show
|
| HP:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
Show
|
| HP:0100750 | Atelectasis | |
Show
|
| HP:0100820 | Glomerulopathy | "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] |
Show
|
| HP:0100825 | Cheilitis | "Inflammation of the lip." [HPO:sdoelken] |
Show
|
| HP:0100835 | Benign neoplasm of the central nervous system | |
Show
|
| 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] |
Show
|
