| HP:0000022 | Abnormality of male internal genitalia | |
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| HP:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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| HP:0000027 | Azoospermia | |
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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:0000030 | Gonadoblastoma, male | |
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| HP:0000033 | Ambiguous genitalia, male | |
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| HP:0000037 | Male pseudohermaphroditism | "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] |
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| HP:0000039 | Epispadias | "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:curators] |
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| HP:0000041 | Chordee | "A condition in which the head of the penis curves downward." [HPO:curators] |
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| 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] |
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| HP:0000045 | Abnormality of the scrotum | |
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| HP:0000046 | Scrotal hypoplasia | |
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| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| HP:0000048 | Bifid scrotum | "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [HPO:curators] |
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| HP:0000054 | Micropenis | |
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| HP:0000055 | Abnormality of female external genitalia | |
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| HP:0000058 | Abnormality of the labia | |
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| HP:0000061 | Ambiguous genitalia, female | |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000085 | Horseshoe kidney | |
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| HP:0000098 | Increased body height | |
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| HP:0000100 | Nephrotic syndrome | |
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| HP:0000130 | Abnormality of the uterus | "An abnormality of the uterus (womb)." [HPO:curators] |
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| HP:0000133 | Gonadal dysgenesis | |
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| HP:0000144 | Decreased fertility | |
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| HP:0000147 | polycystic ovaries | |
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| HP:0000149 | Gonadoblastoma, female | |
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| HP:0000150 | Gonadoblastoma | |
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| HP:0000218 | High palate | "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] |
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| HP:0000286 | Epicanthus | "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000368 | Low-set, posteriorly rotated ears | |
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| HP:0000403 | Recurrent otitis media | |
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| HP:0000465 | Webbed neck | |
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| HP:0000505 | Impaired vision | |
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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:0000729 | Pervasive developmental disorder | |
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| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
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| HP:0000771 | Gynecomastia | |
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| HP:0000786 | Primary amenorrhea | |
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| HP:0000808 | Penoscrotal hypospadias | "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [HPO:curators] |
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| HP:0000815 | Hypergonadotropic hypogonadism | "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000837 | Elevated gonadotropins | |
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| HP:0000846 | Adrenal insufficiency | |
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| HP:0000868 | Decreased fertility in females | |
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| 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] |
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| HP:0001087 | Congenital glaucoma | |
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| HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| HP:0001450 | Y-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators] |
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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:0001647 | Bicuspid aortic valve | "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] |
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| HP:0001649 | Tachycardia | "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001680 | Coarctation of aorta | "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] |
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| HP:0001822 | Hallux valgus | "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] |
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| HP:0002162 | Low posterior hairline | |
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| HP:0002164 | Nail dysplasia | |
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| HP:0002215 | Sparse axillary hair | |
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| HP:0002225 | Sparse pubic hair | |
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| HP:0002442 | Dyscalculia | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002667 | Nephroblastoma (Wilms tumor) | "A kind of renal tumor primarily affecting children. It is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever." [HPO:curators] |
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| HP:0002750 | Delayed skeletal maturation | "A decreased rate of skeletal maturation. Delayed 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] |
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| HP:0002967 | Cubitus valgus | |
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| HP:0003251 | Male infertility | |
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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:0006610 | Wide intermamillary distance | |
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| HP:0008187 | Absence of secondary sex characteristics | |
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| HP:0008193 | Primary gonadal insufficiency | |
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| HP:0008214 | Decreased serum estradiol | |
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| HP:0008230 | Decreased testosterone in males | |
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| HP:0008232 | Elevated follicle stimulating hormone | |
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| HP:0008665 | Hypertrophic clitoris | |
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| HP:0008689 | Bilateral cryptorchidism | |
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| HP:0008715 | Testicular dysgenesis | |
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| HP:0008726 | Hypoplastic vagina | "Underdevelopment of the vagina." [HPO:curators] |
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| HP:0008730 | Female external genitalia in males | "The presence of female external genitalia in a person with a male karyotype." [HPO:curators] |
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| HP:0008734 | Decreased testicular size | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008968 | Muscle hypertrophy of the lower extremities | "Muscle hypertrophy primarily affecting the legs." [HPO:curators] |
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| HP:0010044 | Hypoplastic/short 4th metacarpal | |
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| HP:0010459 | True hermaphroditism | "The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism." [HPO:curators] |
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| HP:0010464 | Streak ovary | "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequenty mesonephric or hilar cells." [HPO:curators] |
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| HP:0010743 | Hypoplasia of the metatarsal bones | |
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| HP:0011969 | Elevated luteinizing hormone | "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
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| HP:0012244 | Abnormal sex determination | "Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] |
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| HP:0012245 | Sex reversal | "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] |
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| HP:0012741 | Unilateral cryptorchidism | "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson] |
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| HP:0012856 | Abnormal scrotal rugation | "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson] |
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| HP:0012861 | Ovotestis | "A gonad that contains both ovarian follicles and testicular tubular elements." [HPO:probinson] |
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| HP:0012870 | Vanishing testis | "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [HPO:probinson, pmid:22985611] |
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| HP:0012887 | Ovarian serous cystadenoma | "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue." [HPO:probinson, PMID:23766763] |
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| HP:0030079 | Cervix cancer | "A tumor of the uterine cervix." [] |
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| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0040171 | Decreased serum testosterone level | |
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| HP:0100779 | Urogenital sinus anomaly | "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
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