loading...| Preferred Name |
CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE |
| Synonyms |
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (1 patient) |
| ID |
http://purl.bioontology.org/ontology/OMIM/100720 |
| altLabel |
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL (1 patient) CHRND ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE ACHRD MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (1 family) |
| cui |
C4225653 C4225371 C1413411 C4225654 C1854678 |
| Gene Locus |
2q33-q34 |
| Gene Symbol |
CMS3B CHRND CMS3A CMS3C SCCMS ACHRD |
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/100720.0002 http://purl.bioontology.org/ontology/OMIM/100720.0001 http://purl.bioontology.org/ontology/OMIM/100720.0003 http://purl.bioontology.org/ontology/OMIM/100720.0008 http://purl.bioontology.org/ontology/OMIM/100720.0007 http://purl.bioontology.org/ontology/OMIM/100720.0009 http://purl.bioontology.org/ontology/OMIM/100720.0011 http://purl.bioontology.org/ontology/OMIM/100720.0004 http://purl.bioontology.org/ontology/OMIM/100720.0005 |
| MIMTYPEMEANING |
Gene with known sequence |
| notation |
100720 |
| OMIM Entry Type |
1 |
| OMIM MimType Value |
star |
| prefLabel |
CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE |
| tui |
T028 T033 T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C537377 | Medical Subject Headings | CUI |