loading...| Preferred Name |
SPINAL MUSCULAR ATROPHY, TYPE IV |
| Synonyms |
SPINAL MUSCULAR ATROPHY, ADULT FORM |
| ID |
http://purl.bioontology.org/ontology/OMIM/271150 |
| altLabel |
SPINAL MUSCULAR ATROPHY, ADULT FORM SMA4 SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE |
| cui |
C1838230 |
| Gene Locus |
5q12.2-q13.3 |
| Gene Symbol |
SMA3 SMA2 SMA4 SMA1 SMN1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU009358 http://purl.bioontology.org/ontology/OMIM/MTHU003662 http://purl.bioontology.org/ontology/OMIM/MTHU067888 http://purl.bioontology.org/ontology/OMIM/MTHU009359 http://purl.bioontology.org/ontology/OMIM/MTHU009357 http://purl.bioontology.org/ontology/OMIM/MTHU001835 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
271150 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPINAL MUSCULAR ATROPHY, TYPE IV |
| Scope Statement |
Slow disease progression [MISCELLANEOUS] Mean age at onset 35 years (range 20-60) [MISCELLANEOUS] Allelic disorder to spinal muscular atrophy type I (253300) [MISCELLANEOUS] Caused by mutations in the survival of motor neuron 1 gene (SMN1, 600354.0011) [MOLECULAR BASIS] |
| tui |
T047 |