loading...| Preferred Name | PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1 | |
| Synonyms |
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC PYLORIC STENOSIS, INFANTILE IHPS IHPS1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/179010 |
|
| altLabel |
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC PYLORIC STENOSIS, INFANTILE IHPS IHPS1 |
|
| cui |
C1867403 C0700639 |
|
| Gene Locus |
12q |
|
| Gene Symbol |
IHPS IHPS1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU020962 http://purl.bioontology.org/ontology/OMIM/MTHU020960 http://purl.bioontology.org/ontology/OMIM/MTHU020959 http://purl.bioontology.org/ontology/OMIM/MTHU020961 |
|
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown. |
|
| notation |
179010 |
|
| OMIM Entry Type |
5 |
|
| OMIM MimType Value |
perc |
|
| prefLabel |
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1 |
|
| Scope Statement |
Incidence 8/1,000 newborns [MISCELLANEOUS] Susceptibility conferred by mutation in the promoter of the nitric oxide synthase-1 gene (NOS1, 163731.0001) [MOLECULAR BASIS] Onset of symptoms 2-4 weeks of age [MISCELLANEOUS] Sex ratio of 4-4.5 males to 1 female [MISCELLANEOUS] Most common form of bowel obstruction in infancy [MISCELLANEOUS] |
|
| tui |
T047 T019 |