eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| colonic atresia | ||||
| Disease ID | 1054 |
|---|---|
| Disease | colonic atresia |
| Definition | A congenital malformation characterized by the absence of a normal opening in a part of the colon. |
| Synonym | atresia of colon atresia of the large intestine colon atresia congenital atresia of colon congenital atresia of colon (disorder) large intestinal atresia |
| Orphanet | |
| OMIM | |
| UMLS | C0266190 |
| 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 | 1054 |
|---|---|
| Disease | colonic atresia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:10) HP:0004398 | Peptic ulcer HP:0003270 | Abdominal distention HP:0003363 | Abdominal situs inversus HP:0001539 | Omphalocele HP:0100867 | Duodenal stenosis HP:0003270 | Distended abdomen HP:0100016 | Abnormality of the mesentery HP:0010448 | Colonic atresia HP:0010448 | Large intestinal atresia HP:0001543 | Gastroschisis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1054 |
|---|---|
| Disease | colonic atresia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003363 | Abdominal situs inversus | MP:0010854 | lung situs inversus | anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003363 | Abdominal situs inversus | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0004398 | Peptic ulcer | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0100867 | Duodenal stenosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001543 | Gastroschisis | MP:0011206 | absent visceral yolk sac | absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo |
| Disease ID | 1054 |
|---|---|
| Disease | colonic atresia |
| Case | (Waiting for update.) |