Orpha Number: 227
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Bifid penis |
Penile duplication
|
0100599 |
Bifid scrotum |
Cleft of scrotum
|
0000048 |
30%-79% of people have these symptoms | ||
Anal atresia |
Absent anus
|
0002023 |
Distal urethral |
0008706 | |
Ectopic scrotum |
Abnormal scrotum position
|
0030275 |
Hypospadias | 0000047 | |
Penoscrotal transposition | 0100600 | |
5%-29% of people have these symptoms | ||
Abnormal spermatogenesis | 0008669 | |
Abnormality of the pubic bone |
Abnormality of the pubic bones
Abnormality of the pubis
[ more ]
|
0003172 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
Bladder exstrophy | 0002836 | |
Cloacal exstrophy | 0010475 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
Epispadias | 0000039 | |
Horseshoe kidney |
Horseshoe kidneys
|
0000085 |
Inguinal hernia | 0000023 | |
Renal duplication |
Extra kidney
|
0000075 |
Renal malrotation |
Abnormal rotation of the kidneys
|
0004712 |
Ureteral duplication |
Double ureter
|
0000073 |
1%-4% of people have these symptoms | ||
Absent thumb |
Absent thumbs
|
0009777 |
Butterfly vertebrae | 0003316 | |
Duplicated colon | 0005223 | |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Rectoperineal fistula | 0004792 | |
0002650 |
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