loading...| Preferred Name |
Spinal muscular atrophy with respiratory distress 1 |
| Synonyms |
Diaphragmatic Spinal Muscular Atrophy |
| ID |
http://purl.bioontology.org/ontology/MESH/C536880 |
| altLabel |
Diaphragmatic Spinal Muscular Atrophy Hmn6 Dhmn6 Hmnvi Autosomal Recessive Distal Spinal Muscular Atrophy 1 Spinal Muscular Atrophy with Respiratory Distress Dsma1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 Smard1 Neuronopathy, Distal Hereditary Motor, Type VI Severe Infantile Axonal Neuropathy With Respiratory Failure Sianrf Distal Spinal Muscular Atrophy Type 1 Spinal Muscular Atrophy, Diaphragmatic Distal Hereditary Motor Neuronopathy Type Vi Neuronopathy, Severe Infantile Axonal, With Respiratory Failure Spinal Muscular Atrophy with Respiratory Distress Type 1 |
| cui |
C1858517 |
| HM |
D009134 D012127 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
23 |
| MMR |
20151110 |
| notation |
C536880 |
| prefLabel |
Spinal muscular atrophy with respiratory distress 1 |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive form of infantile spinal muscular atrophy characterized by severe respiratory distress resulting from diaphragmatic paralysis resulting in respiratory failure between 6 weeks and 6 months, DIAPHRAGMATIC EVENTRATION shown on chest x-ray or PREMATURE BIRTH, and predominant involvement of the upper limbs and distal muscles. Mutations in the IGHMBP2 gene have been identified. OMIM: 604320 |
| TERMUI |
T842516 T842510 T807393 T842517 T740741 T842515 T807385 T842513 T807390 T842514 T842518 T842512 T842509 T823733 T842519 T842520 T842511 T807394 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/604320 | Online Mendelian Inheritance in Man | CUI |