| 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] |
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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:0000049 | Shawl scrotum | "A condition in which the upper scrotal skin rises over the base of the penis." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000089 | Renal hypoplasia | |
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| HP:0000130 | Abnormality of the uterus | "An abnormality of the uterus (womb)." [HPO:curators] |
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| HP:0000144 | Decreased fertility | |
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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:0000768 | Pectus carinatum | "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] |
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| HP:0000823 | Delayed puberty | |
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| HP:0000882 | Hypoplastic scapulae | |
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| HP:0000889 | Abnormality of the clavicles | "Any abnormality of the clavicles (collar bones)." [HPO:curators] |
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| HP:0000894 | Short clavicles | |
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| HP:0000912 | Sprengel anomaly | "A complex deformity characterized by congenital elevation of the scapula." [HPO:curators] |
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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:0001163 | Abnormality of the metacarpal bones | |
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| HP:0001231 | Abnormality of the fingernails | "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] |
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| HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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| HP:0001601 | Laryngomalacia | |
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| HP:0001607 | Subglottic stenosis | |
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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:0001800 | Hypoplastic toenails | "Underdeveloped toenails." [HPO:curators] |
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| HP:0002021 | Pyloric stenosis | |
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| HP:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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| HP:0002025 | Anal stenosis | "Abnormal narrowing of the anal opening." [HPO:curators] |
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| HP:0002215 | Sparse axillary hair | |
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| HP:0002221 | Absent axillary hair | |
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| HP:0002557 | Hypoplastic nipples | |
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| HP:0002818 | Abnormality of the radius | |
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| HP:0002984 | Hypoplasia of the radius | "Underdevelopment of the radius." [HPO:curators] |
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| HP:0003019 | Abnormality of the wrist | "Abnormalitly of the wrist, the structure connecting the hand and the forearm." [HPO:curators] |
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| HP:0003022 | Hypoplasia of the ulna | "Underdevelopment of the ulna." [HPO:curators] |
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| HP:0003063 | Abnormality of the humerus | "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] |
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| HP:0003186 | Inverted nipples | "The presence of nipples that instead of pointing outward are retracted inwards." [HPO:sdoelken] |
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| HP:0003187 | Breast hypoplasia | |
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| HP:0003974 | Absent ossification/absence of radius | |
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| HP:0003977 | Deformed radius | |
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| HP:0003982 | Absent ossification/absent ulna | |
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| HP:0004050 | Absent hands | |
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| HP:0004299 | Hernia of the abdominal wall | |
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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:0004370 | Abnormality of temperature regulation | |
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| HP:0004397 | Ectopic anus | "Abnormal displacement or malposition of the anus." [HPO:curators] |
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| HP:0005338 | Sparse lateral eyebrows | |
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| HP:0005792 | Humeral hypoplasia | |
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| HP:0006495 | Aplasia/Hypoplasia of the ulna | "Absence or underdevelopment of the ulna." [HPO:curators] |
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| HP:0007397 | Axillary apocrine gland hypoplasia | |
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| HP:0008093 | Short fourth and fifth toes | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0009751 | Aplasia of the pectoralis major muscle | "Absence of the pectoralis major muscle." [HPO:curators] |
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| HP:0009882 | Hypoplasia of the distal phalanges of the hand | |
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| HP:0010627 | Hypoplasia of the pituitary gland | "Underdevelopment of the pituitary gland." [HPO:curators] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0011755 | Ectopic posterior pituitary | "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the `neurohypophysis` (FMA:74628). The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [DDD:spark, HPO:probinson] |
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| HP:0011917 | Short 5th toe | "Underdevelopment (hypoplasia) of the `fifth toe` (FMA:25053)." [HPO:probinson] |
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| HP:0030011 | Imperforate hymen | "A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina." [] |
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| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
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| HP:0100783 | Breast aplasia | |
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