loading...| Preferred Name |
CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE |
| Synonyms |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE |
| ID |
http://purl.bioontology.org/ontology/OMIM/100730 |
| altLabel |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE ACETYLCHOLINE RECEPTOR, MUSCLE, GAMMA SUBUNIT ACHRG ESCOBAR SYNDROME CHRNG |
| cui |
C0265261 C1413413 C1854678 |
| Gene Locus |
2q33-q34 |
| Gene Symbol |
ACHRG CHRNG |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/100730.0002 http://purl.bioontology.org/ontology/OMIM/100730.0006 http://purl.bioontology.org/ontology/OMIM/100730.0009 http://purl.bioontology.org/ontology/OMIM/100730.0007 http://purl.bioontology.org/ontology/OMIM/100730.0008 http://purl.bioontology.org/ontology/OMIM/100730.0004 http://purl.bioontology.org/ontology/OMIM/100730.0005 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
100730 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE |
| tui |
T028 T019 T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C537377 | Medical Subject Headings | CUI | |
| http://purl.bioontology.org/ontology/MESH/C537377 | Medical Subject Headings | CUI |