| HP:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000013 | Hypoplastic uterus | |
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| 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: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: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:0000058 | Abnormality of the labia | |
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| HP:0000062 | Ambiguous genitalia | |
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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: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:0000365 | Hearing loss | |
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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: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:0000869 | Secondary amenorrhea | |
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| 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] |
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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:0001166 | Arachnodactyly | "Abnormally long and slender fingers ("spider fingers")." [HPO:curators] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001470 | Sex-limited autosomal dominant | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002206 | Pulmonary fibrosis | |
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| HP:0002215 | Sparse axillary hair | |
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| HP:0002225 | Sparse pubic hair | |
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| HP:0002555 | Absent pubic hair | |
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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: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:0005092 | irregular, flared metaphyses with streaky sclerosis | |
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| HP:0005625 | Osteoporosis of vertebrae | "Osteoporosis affecting predominantly the vertebrae." [HPO:curators] |
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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:0008209 | Premature ovarian failure | |
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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:0008684 | Absent/hypoplastic uterus | |
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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:0010311 | Aplasia/Hypoplasia of the breasts | "Absence or underdevelopment of the breasts." [HPO:curators] |
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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:0011961 | Non-obstructive azoospermia | "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] |
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| HP:0011962 | Obstructive azoospermia | "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] |
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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:0012856 | Abnormal scrotal rugation | "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." [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:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
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| HP:0030974 | Cryptozoospermia | "A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out)." [PMID:25780588] |
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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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