loading...| Preferred Name |
SPINAL MUSCULAR ATROPHY, TYPE II |
| Synonyms |
SMA2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/253550 |
| altLabel |
SMA2 MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE SMA II |
| cui |
C2931358 C0393538 |
| Gene Locus |
5q12.2-q13.3 |
| Gene Symbol |
SMA3 SMA2 SMA4 SMA1 SMN1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU003662 http://purl.bioontology.org/ontology/OMIM/MTHU011076 http://purl.bioontology.org/ontology/OMIM/MTHU009359 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
253550 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
SPINAL MUSCULAR ATROPHY, TYPE II |
| Scope Statement |
Death between 2 years of age and young adulthood [MISCELLANEOUS] Death secondary to respiratory infection or failure [MISCELLANEOUS] Caused by mutation in the survival of motor neuron 1 gene (SMN1, 600354.0002) [MOLECULAR BASIS] Deletions in NAIP gene (600355) found in 18% of SMAII patients [MISCELLANEOUS] Presentation between 6-18 months [MISCELLANEOUS] Child often can sit unsupported but never ambulates [MISCELLANEOUS] |
| tui |
T047 |