| 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] |
Show
|
| HP:0000026 | Hypogonadism, male | "Lack of function of the males gonads (i.e., testes)." [HPO:curators] |
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:0000030 | Gonadoblastoma, male | |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0000045 | Abnormality of the scrotum | |
Show
|
| HP:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
Show
|
| HP:0000054 | Micropenis | |
Show
|
| HP:0000058 | Abnormality of the labia | |
Show
|
| HP:0000062 | Ambiguous genitalia | |
Show
|
| HP:0000100 | Nephrotic syndrome | |
Show
|
| HP:0000127 | Renal salt wasting | |
Show
|
| HP:0000133 | Gonadal dysgenesis | |
Show
|
| HP:0000147 | polycystic ovaries | |
Show
|
| HP:0000149 | Gonadoblastoma, female | |
Show
|
| HP:0000771 | Gynecomastia | |
Show
|
| HP:0000786 | Primary amenorrhea | |
Show
|
| HP:0000798 | Oligospermia | |
Show
|
| 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] |
Show
|
| HP:0000823 | Delayed puberty | |
Show
|
| HP:0000826 | Precocious puberty | "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:curators] |
Show
|
| HP:0000835 | Adrenal hypoplasia | |
Show
|
| HP:0000846 | Adrenal insufficiency | |
Show
|
| HP:0000868 | Decreased fertility in females | |
Show
|
| 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] |
Show
|
| HP:0000953 | Hyperpigmentation | |
Show
|
| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [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:0001508 | Failure to thrive | |
Show
|
| HP:0001944 | Dehydration | |
Show
|
| HP:0002215 | Sparse axillary hair | |
Show
|
| HP:0002225 | Sparse pubic hair | |
Show
|
| 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] |
Show
|
| 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] |
Show
|
| HP:0002902 | Hyponatremia | |
Show
|
| HP:0003251 | Male infertility | |
Show
|
| HP:0003560 | Muscular dystrophy | "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] |
Show
|
| HP:0004319 | Decreased aldosterone production | |
Show
|
| HP:0008163 | Plasma cortisol low | |
Show
|
| HP:0008187 | Absence of secondary sex characteristics | |
Show
|
| HP:0008193 | Primary gonadal insufficiency | |
Show
|
| HP:0008197 | Absence of pubertal development | |
Show
|
| HP:0008214 | Decreased serum estradiol | |
Show
|
| HP:0008230 | Decreased testosterone in males | |
Show
|
| HP:0008232 | Elevated follicle stimulating hormone | |
Show
|
| HP:0008665 | Hypertrophic clitoris | |
Show
|
| HP:0008715 | Testicular dysgenesis | |
Show
|
| HP:0008726 | Hypoplastic vagina | "Underdevelopment of the vagina." [HPO:curators] |
Show
|
| HP:0008730 | Female external genitalia in males | "The presence of female external genitalia in a person with a male karyotype." [HPO:curators] |
Show
|
| HP:0008734 | Decreased testicular size | |
Show
|
| 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] |
Show
|
| HP:0011969 | Elevated luteinizing hormone | "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
Show
|
| HP:0012244 | Abnormal sex determination | "Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] |
Show
|
| HP:0012245 | Sex reversal | "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] |
Show
|
| 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] |
Show
|
| HP:0030680 | Abnormality of cardiovascular system morphology | "Any structural anomaly of the heart and great vessels." [] |
Show
|
| HP:0100779 | Urogenital sinus anomaly | "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] |
Show
|
