MCID: SPN278
MIFTS: 7

Spinal Muscular Atrophy with Respiratory Distress Type 2

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy with Respiratory Distress Type 2

MalaCards integrated aliases for Spinal Muscular Atrophy with Respiratory Distress Type 2:

Name: Spinal Muscular Atrophy with Respiratory Distress Type 2 58
Severe Infantile Axonal Neuropathy with Respiratory Failure Type 2 58
X-Linked Spinal Muscular Atrophy with Respiratory Distress 58
Diaphragmatic Spinal Muscular Atrophy Type 2 58
Smard2 58

Characteristics:

Orphanet epidemiological data:

58
spinal muscular atrophy with respiratory distress type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G12.2
Orphanet 58 ORPHA404521

Summaries for Spinal Muscular Atrophy with Respiratory Distress Type 2

MalaCards based summary : Spinal Muscular Atrophy with Respiratory Distress Type 2, is also known as severe infantile axonal neuropathy with respiratory failure type 2. An important gene associated with Spinal Muscular Atrophy with Respiratory Distress Type 2 is LAS1L (LAS1 Like Ribosome Biogenesis Factor).

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Symptoms & Phenotypes for Spinal Muscular Atrophy with Respiratory Distress Type 2

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Expression for Spinal Muscular Atrophy with Respiratory Distress Type 2

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GO Terms for Spinal Muscular Atrophy with Respiratory Distress Type 2

Sources for Spinal Muscular Atrophy with Respiratory Distress Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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