| HPO |
HP:0000055 |
Abnormality of female external genitalia |
"An abnormality of the female external genitalia." [HPO:probinson] |
— |
HP:0000811, HP:0010460 |
| HPO |
HP:0000056 |
Abnormality of the clitoris |
"An abnormality of the clitoris." [HPO:probinson] |
— |
HP:0000055 |
| HPO |
HP:0000057 |
obsolete Clitoromegaly |
— |
— |
— |
| HPO |
HP:0000058 |
Abnormal labia morphology |
"An anomaly of the labia, the externally visible portions of the vulva." [HPO:probinson] |
— |
HP:0000055 |
| HPO |
HP:0000059 |
Hypoplastic labia majora |
"Undergrowth of the outer labia." [HPO:probinson] |
— |
HP:0000066, HP:0012881 |
| HPO |
HP:0000060 |
Clitoral hypoplasia |
"Developmental hypoplasia of the clitoris." [HPO:probinson] |
— |
HP:0012815, HP:0040255 |
| HPO |
HP:0000061 |
Ambiguous genitalia, female |
"Ambiguous genitalia in an individual with XX genetic gender." [HPO:probinson] |
— |
HP:0000055, HP:0000062 |
| HPO |
HP:0000062 |
Ambiguous genitalia |
"A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [HPO:probinson, PMID:15102623] |
Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. |
HP:0000811 |
| HPO |
HP:0000063 |
Fused labia minora |
"Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] |
— |
HP:0012880 |
| HPO |
HP:0000064 |
Hypoplastic labia minora |
— |
— |
HP:0000066, HP:0012880 |
| HPO |
HP:0000065 |
Labial hypertrophy |
— |
— |
HP:0000058 |
| HPO |
HP:0000066 |
Labial hypoplasia |
— |
— |
HP:0000058, HP:0012815 |
| HPO |
HP:0000067 |
Urethral atresia, female |
"Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [HPO:probinson] |
— |
HP:0000055, HP:0000068 |
| HPO |
HP:0000068 |
Urethral atresia |
"Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [HPO:probinson] |
— |
HP:0000795 |
| HPO |
HP:0000069 |
Abnormality of the ureter |
"An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder." [HPO:probinson] |
— |
HP:0010935 |
| HPO |
HP:0000070 |
Ureterocele |
"A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993] |
— |
HP:0025633 |
| HPO |
HP:0000071 |
Ureteral stenosis |
"The presence of a stenotic, i.e., constricted ureter." [HPO:probinson] |
— |
HP:0006000 |
| HPO |
HP:0000072 |
Hydroureter |
"The distention of the ureter with urine." [HPO:probinson, PMID:33085364] |
— |
HP:0025633 |
| HPO |
HP:0000073 |
Ureteral duplication |
"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators] |
— |
HP:0025633 |
| HPO |
HP:0000074 |
Ureteropelvic junction obstruction |
"Blockage of urine flow from the renal pelvis to the proximal ureter." [Eurenomics:ewuehl] |
— |
HP:0000071 |
| HPO |
HP:0000075 |
Renal duplication |
"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [HPO:probinson] |
— |
HP:0012210 |
| HPO |
HP:0000076 |
Vesicoureteral reflux |
"Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:probinson] |
— |
HP:0000009, HP:0025634 |
| HPO |
HP:0000077 |
Abnormality of the kidney |
"An abnormality of the kidney." [HPO:probinson] |
The kidney is a paired organ whose primary function is the production of urine. |
HP:0010935 |
| HPO |
HP:0000078 |
Abnormality of the genital system |
"An abnormality of the genital system." [HPO:probinson] |
— |
HP:0000119 |
| HPO |
HP:0000079 |
Abnormality of the urinary system |
"An abnormality of the urinary system." [HPO:probinson] |
— |
HP:0000119 |