PedAM
Pediatric Disease Annotations & Medicines
| epispadias | ||||
| Disease ID | 740 |
|---|---|
| Disease | epispadias |
| Definition | A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the CLITORIS and the labia, or in the ABDOMEN. |
| Synonym | (epispadias) or (anaspadias) (epispadias) or (anaspadias) (disorder) anaspadias epispadia epispadias (disorder) epispadias [disease/finding] urethral meatus, dorsal |
| Orphanet | |
| ICD10 | |
| UMLS | C0014588 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 740 |
|---|---|
| Disease | epispadias |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0008648 | Anteriorly displaced urethral meatus HP:0000020 | Urinary incontinence HP:0030911 | Bifid clitoris HP:0002644 | Abnormality of pelvic girdle bone morphology HP:0000039 | Epispadias HP:0000076 | Vesicoureteral reflux |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0100548 | Exstrophy | 5 HP:0000020 | Bladder incontinence | 2 HP:0002836 | Bladder exstrophy | 2 HP:0000041 | Chordee | 1 HP:0008722 | Urethral diverticulum | 1 HP:0010475 | Cloacal exstrophy | 1 HP:0002664 | Neoplasia | 1 HP:0000076 | Vesicoureteric reflux | 1 HP:0010866 | Congenital anterior abdominal wall defect | 1 HP:0010788 | Testicular neoplasm | 1 HP:0001004 | Lymphatic obstruction | 1 HP:0000047 | Hypospadias | 1 |
| Disease ID | 740 |
|---|---|
| Disease | epispadias |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100627 | Displacement of the external urethral meatus | MP:0008297 | retention of the adrenal gland x-zone;HP:0000055 | Abnormality of female external genitalia |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100627 | Displacement of the external urethral meatus | MP:0003257 | abnormal abdominal wall morphology;HP:0000055 | Abnormality of female external genitalia |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |