eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| epispadias | ||||
| Disease ID | 1165 |
|---|---|
| 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:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1165 |
|---|---|
| Disease | epispadias |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0000020 | Urinary incontinence HP:0030911 | Bifid clitoris HP:0008648 | Anteriorly displaced urethral meatus HP:0000039 | Epispadias HP:0002644 | Abnormality of pelvic girdle bone morphology HP:0000076 | Vesicoureteral reflux |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0100548 | Exstrophy | 5 HP:0002836 | Bladder exstrophy | 2 HP:0000020 | Bladder incontinence | 2 HP:0001004 | Lymphatic obstruction | 1 HP:0010866 | Congenital anterior abdominal wall defect | 1 HP:0010475 | Cloacal exstrophy | 1 HP:0000047 | Hypospadias | 1 HP:0002664 | Neoplasia | 1 HP:0008722 | Urethral diverticulum | 1 HP:0100599 | Penile duplication | 1 HP:0010788 | Testicular neoplasm | 1 HP:0000041 | Chordee | 1 |
| Disease ID | 1165 |
|---|---|
| Disease | epispadias |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000020 | Urinary incontinence | MP:0003280 | urinary incontinence | inability to control the urinary bladder excretory functions leading to involuntary urination |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000039 | Epispadias | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000020 | Urinary incontinence | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1165 |
|---|---|
| Disease | epispadias |
| Case | (Waiting for update.) |