HPO
Db Link Name Definition Comment Is a
HPO HP:0000028 Cryptorchidism "Testis in inguinal canal. That is, 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 scrotum." [HPO:probinson, PMID:23650202] The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. HP:0000035
HPO HP:0000029 Testicular atrophy "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [HPO:probinson] HP:0000035
HPO HP:0000030 Testicular gonadoblastoma "The presence of a gonadoblastoma of the testis." [HPO:probinson] HP:0000150, HP:0010788
HPO HP:0000031 Epididymitis "The presence of inflammation of the epididymis." [HPO:probinson] HP:0009714, HP:0012649
HPO HP:0000032 Abnormality of male external genitalia "An abnormality of male external genitalia." [HPO:probinson] HP:0000811, HP:0010461
HPO HP:0000033 Ambiguous genitalia, male "Ambiguous genitalia in an individual with XY genetic gender." [HPO:probinson] HP:0000032, HP:0000062
HPO HP:0000034 Hydrocele testis "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [PMID:32644551] HP:0000035
HPO HP:0000035 Abnormal testis morphology "An anomaly of the testicle (the male gonad)." [HPO:probinson] HP:0000032
HPO HP:0000036 Abnormal penis morphology "Abnormality of the male external sex organ." [] HP:0000032
HPO 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] HP:0000032
HPO HP:0000039 Epispadias "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:probinson, PMID:23650202] Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. HP:0100627
HPO HP:0000040 Long penis "Penile length more than 2 SD above the mean for age." [] Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. HP:0000036
HPO HP:0000041 Chordee "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees." [HPO:probinson, PMID:23650202] The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. HP:0000036
HPO HP:0000042 Absent external genitalia "Lack of external genitalia in a male or female individual." [HPO:probinson] HP:0000811
HPO HP:0000044 Hypogonadotropic 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:probinson, PMID:23503957] HP:0000135
HPO HP:0000045 Abnormality of the scrotum HP:0000032
HPO HP:0000046 Scrotal hypoplasia HP:0000045, HP:0000050
HPO HP:0000047 Hypospadias "Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum." [HPO:probinson, PMID:21968448] HP:0100627
HPO HP:0000048 Bifid scrotum "Midline indentation or cleft of the scrotum." [HPO:probinson, PMID:23650202] A testis may or may not be present in each half of the scrotum. HP:0000045
HPO HP:0000049 Shawl scrotum "Superior margin of the scrotum superior to the base of the penis." [HPO:probinson, PMID:23650202] A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. HP:0000045
HPO HP:0000050 Hypoplastic male external genitalia "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [HPO:probinson] HP:0000032, HP:0003241
HPO HP:0000051 Perineal hypospadias "Hypospadias with location of the urethral meatus in the perineal region." [HPO:probinson, PMID:8097257] HP:0000047
HPO HP:0000052 Urethral atresia, male "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [HPO:probinson] HP:0000068
HPO HP:0000053 Macroorchidism "The presence of abnormally large testes." [HPO:probinson] HP:0045058
HPO HP:0000054 Micropenis "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, PMID:15102623] HP:0008736