loading...| Preferred Name |
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1 |
| Synonyms |
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC |
| ID |
http://purl.bioontology.org/ontology/OMIM/179010 |
| altLabel |
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC PYLORIC STENOSIS, INFANTILE IHPS IHPS1 |
| cui |
C0700639 C1867403 |
| Gene Locus |
12q |
| Gene Symbol |
IHPS IHPS1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU020968 http://purl.bioontology.org/ontology/OMIM/MTHU020962 http://purl.bioontology.org/ontology/OMIM/MTHU020960 http://purl.bioontology.org/ontology/OMIM/MTHU000081 |
| 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 |
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] Incidence 8/1,000 newborns [MISCELLANEOUS] Most common form of bowel obstruction in infancy [MISCELLANEOUS] Sex ratio of 4-4.5 males to 1 female [MISCELLANEOUS] |
| tui |
T019 T047 |