| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
29575628 |
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A. Am J Med Genet A. 2018;176(4):997-1000. |
| Chorioretinal coloboma | ||
| SPINT2 | ||
| c|DUP|166_167|TA| c|SUB|A|488|G;RS#:121908403 p|FS|N|57|T|24 p|SUB|Y|163|C;RS#:121908403 | ||
| Alleles Amino Acid Substitution DNA Mutational Analysis Diarrhea Facies Genetic Association Studies Homo sapiens Infant Male Membrane Glycoproteins Mutation Ophthalmoscopes Optic Nerve Phenotype Whole Genome Sequencing | ||
| 1 (4.0%) |
21199752 |
Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. Chen CP, Chiang MC, Wang TH, Hsueh C, Chang SD, Tsai FJ, Wang CN, Chern SR, Wang W. Taiwan J Obstet Gynecol. 2010;49(4):487-94. |
| Ascites | ||
| MYO5B | ||
| c|SUB|C|1021|T;RS#:776708126 c|SUB|C|445|T p|SUB|Q|149|X p|SUB|Q|341|X;RS#:776708126 | ||
| Codon, Nonsense DNA Mutational Analysis Females Fetal Diseases Genetic Counseling Homo sapiens Inclusion Bodies Infant, Newborn Malabsorption Syndrome Male Microvilli Mucolipidoses Polyhydramnios Pregnancy Ultrasonography, Prenatal | ||
| 1 (4.0%) |
18560889 |
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency. Murayama K, Nagasaka H, Tsuruoka T, Omata Y, Horie H, Tregoning S, Thorburn DR, Takayanagi M, Ohtake A. Eur J Pediatr. 2009;168(3):297-302. |
| Intractable diarrhea | ||
| MT-CO2 MT-CO3 | ||
| Acidosis, Lactic Blood Gas Analysis Child, Preschool Electron Transport Complex I Fatal Outcome Feces Homo sapiens Infant Infant, Newborn Infantile Diarrhea Intestinal Mucosa Liver Male Mitochondrial Diseases Water-Electrolyte Balance | ||
| 1 (4.0%) |
15179572 |
Congenital sodium diarrhea in a neonate presenting as acute renal failure. Al Makadma AS, Al-Akash SI, Al Dalaan I, Al Turaiki M, Shabib SM. Pediatr Nephrol. 2004;19(8):905-7. |
| Metabolic acidosis | ||
| Homo sapiens Infant, Newborn Infantile Diarrhea Male | ||
| 1 (4.0%) |
8460545 |
Treatment of an infant with congenital sodium diarrhea by oral rehydration. Kidowaki T, Funaki H, Mizuta R, Nishiki T, Takada H. Acta Paediatr Jpn. 1993;35(1):49-52. |
| Metabolic acidosis | ||
| REN | ||
| Alkalosis Fluid Therapy Homo sapiens Hyponatremia Infant, Newborn Infantile Diarrhea Male Osmolarity Rehydration Solutions | ||
| 1 (4.0%) |
1403458 |
Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea. Fell JM, Miller MP, Finkel Y, Booth IW. J Pediatr Gastroenterol Nutr. 1992;15(2):112-6. |
| Polyhydramnios | ||
| Biological Transport Diarrhea Homo sapiens Infant Jejunum Male Microvilli Rectum |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002014 | Diarrhea | 2 |
| HP:0000567 | Chorioretinal coloboma | 1 |
| HP:0000577 | Exotropia | 1 |
| HP:0000588 | Optic nerve coloboma | 1 |
| HP:0000589 | Coloboma | 1 |
| HP:0001561 | Polyhydramnios | 1 |
| HP:0001942 | Metabolic acidosis | 1 |
| HP:0200020 | Corneal erosion | 1 |