loading...| Preferred Name |
SPHEROCYTOSIS, TYPE 1 |
| Synonyms |
SPH |
| ID |
http://purl.bioontology.org/ontology/OMIM/182900 |
| altLabel |
SPH SPHEROCYTOSIS, HEREDITARY, 1 HS SPH1 HS1 |
| cui |
C2674218 |
| Gene Locus |
8p11.2 |
| Gene Symbol |
ANK1 SPH1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003427 http://purl.bioontology.org/ontology/OMIM/MTHU012620 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU015593 http://purl.bioontology.org/ontology/OMIM/MTHU015591 http://purl.bioontology.org/ontology/OMIM/MTHU015589 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU009073 http://purl.bioontology.org/ontology/OMIM/MTHU006276 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
182900 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPHEROCYTOSIS, TYPE 1 |
| Scope Statement |
Patients with homozygous mutations have a more severe disorder [MISCELLANEOUS] Caused by mutation in the ankyrin 1 gene (ANK1, 612641.0001) [MOLECULAR BASIS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C567159 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C567159 | Medical Subject Headings / 医学主题词表 | LOOM |