| HP:0000003 | Multicystic kidney | "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [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:0000060 | Hypoplastic clitoris | |
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| HP:0000066 | Labial hypoplasia | |
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| HP:0000085 | Horseshoe kidney | |
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| HP:0000126 | Hydronephrosis | |
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| HP:0000175 | Cleft palate | "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] |
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| HP:0000204 | Cleft lip | "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] |
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| HP:0000238 | Hydrocephalus | |
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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:0000307 | Pointed chin | |
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| HP:0000324 | Facial asymmetry | |
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| HP:0000365 | Hearing loss | |
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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:0000370 | Abnormality of the middle ear | |
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| HP:0000377 | Abnormal form of ears | "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] |
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| HP:0000402 | Stenotic external auditory canal | "An abnormal narrowing of the external auditory canal." [HPO:curators] |
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| HP:0000410 | Mixed hearing loss | |
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| HP:0000446 | Narrow nasal bridge | |
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| HP:0000455 | Broad nasal tip | |
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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:0000505 | Impaired vision | |
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| HP:0000526 | Aniridia | "Congenital absence of the iris." [HPO:curators] |
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| HP:0000528 | Anophthalmia | "Absence of a true eyeball." [HPO:curators] |
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| HP:0000567 | Chorioretinal coloboma | |
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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:0000612 | Iris coloboma | "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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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:0000677 | Oligodontia | "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [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:0000689 | Dental malocclusion | "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] |
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| HP:0000773 | Short ribs | |
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| HP:0000776 | Diaphragmatic hernia | "Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period." [HPO:curators] |
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| HP:0000894 | Short clavicles | |
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| HP:0000963 | Thin skin | |
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| HP:0001000 | Abnormality of skin pigmentation | |
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| HP:0001009 | Telangiectasia | "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators] |
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| HP:0001018 | Abnormal palmar dermatoglyphics | "An abnormality of the dermatoglyphs of the palms." [HPO:curators] |
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| HP:0001083 | Ectopia lentis | |
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| HP:0001156 | Brachydactyly | |
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| HP:0001161 | Polydactyly (hands) | |
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| HP:0001162 | Postaxial polydactyly (hands) | "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001180 | Oligodactyly (hands) | "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:curators] |
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| HP:0001249 | Mental retardation | |
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| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
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| HP:0001374 | Congenital hip dislocation | |
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| HP:0001388 | Joint laxity | |
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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:0001482 | Subcutaneous nodules | |
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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:0001539 | Omphalocele | |
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| HP:0001540 | Diastasis recti | |
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| HP:0001545 | Anteriorly placed anus | "Anterior malposition of the anus." [HPO:curators] |
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| HP:0001596 | Alopecia | "Loss of hair from the head or body." [HPO:curators] |
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| HP:0001597 | Abnormality of the nails | "Abnormality of the fingernails or toenails." [HPO:curators] |
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| HP:0001600 | Abnormality of the larynx | |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001770 | Toe syndactyly | "Webbing or fusion of the 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 toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators] |
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| HP:0001802 | Absent toenails | |
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| HP:0001817 | Absent fingernails | |
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| HP:0001829 | Polydactyly (feet) | |
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| HP:0001839 | Ectrodactyly (feet) | "A condition in which the middle toe is missing, and the foot is cleft where the metatarsal corresponding to the toe would normally be." [HPO:curators] |
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| HP:0001849 | Oligodactyly (feet) | "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:curators] |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002036 | Hiatus hernia | "A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn)." [HPO:curators] |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002232 | Patchy alopecia | |
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| HP:0002247 | Duodenal atresia | "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:curator] |
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| HP:0002299 | Fine, brittle hair | |
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| HP:0002308 | Arnold-Chiari malformation | "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] |
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| HP:0002414 | Spina bifida | "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open." [HPO:curators] |
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| HP:0002475 | Meningomyelocele | |
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| HP:0002557 | Hypoplastic nipples | |
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| HP:0002558 | Supernumerary nipples | |
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| HP:0002566 | Intestinal malrotation | "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0003191 | Notched nasal alae | |
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| HP:0003298 | Spina bifida occulta | "The closed form of spina bifida." [HPO:curators] |
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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:0004334 | Dermal atrophy | "Partial or complete wasting (atrophy) of the skin." [HPO:curators] |
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| HP:0004930 | Abnormality of the pulmonary vasculature | |
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| HP:0005930 | Abnormality of the epiphyses | |
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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:0006297 | Hypoplastic dental enamel | |
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| HP:0006482 | Abnormality of dental morphology | |
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| HP:0006554 | Acute hepatic failure | "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] |
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| HP:0006608 | Midclavicular hypoplasia | |
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| HP:0006638 | Midclavicular aplasia | |
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| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
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| HP:0007546 | Linear or reticular hyperpigmentation | |
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| HP:0007588 | Reticular hyperpigmentation | |
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| HP:0007663 | Decreased central vision | |
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| HP:0007676 | Hypoplasia of the iris | |
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| HP:0007957 | Variable degree of corneal opacities | |
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| HP:0008070 | Sparse hair | |
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| HP:0008404 | Nail dystrophy, variable | |
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| HP:0008678 | Renal hypoplasia/aplasia | |
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| HP:0008839 | Hypoplastic pelvis | |
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| HP:0009124 | Abnormality of adipose tissue | "An abnormality of adipose (or fat) tissue, which is loose connective tissue composed of adipocytes." [HPO:curators] |
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| HP:0009381 | Hypoplastic/small fingers | |
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| HP:0009803 | Hypoplastic/small phalanges of the hand | |
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| HP:0009804 | Reduced number of teeth | |
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| HP:0010049 | Hypoplastic/short metacarpal bones | |
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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:0010740 | Osteopathia striata of the long bones | "A lamellar design on radiagraphs mainly localised at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appaerance." [HPO:sdoelken] |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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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:0010807 | Open bite | "Visible space between the dental arches in occlusion." [pmid:19125428] |
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| HP:0011847 | Giant cell tumor of bone | "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts." [HPO:probinson] |
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| HP:0012733 | Macule | "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson] |
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| HP:0012740 | Papilloma | "A tumor of the skin or mucous membrane with finger-like projections." [HPO:probinson] |
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| HP:0030037 | Bifid ureter | "Incomplete duplication of the ureter." [] |
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| HP:0045026 | Abnormality of the mediastinum | |
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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:0100559 | Lower limb asymmetry | |
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| HP:0100560 | Upper limb asymmetry | |
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| HP:0100585 | Teleangiectasia of the skin | |
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| HP:0100670 | Rough bone trabeculation | |
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