loading...| Preferred Name |
Spinal Muscular Atrophies of Childhood |
| Synonyms |
Kugelberg-Welander Disease |
| Definitions |
A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3) |
| ID |
http://purl.bioontology.org/ontology/MESH/D014897 |
| altLabel |
Kugelberg-Welander Disease Kugelberg Welander Syndrome Kugelberg-Welander Syndrome Muscular Atrophy, Juvenile Werdnig-Hoffmann Disease Infantile Spinal Muscular Atrophy Muscular Atrophy, Spinal, Infantile Chronic Form Type II Spinal Muscular Atrophy Muscular Atrophy, Spinal, Type I Type III Spinal Muscular Atrophy Kugelberg Welander Disease HMN (Hereditary Motor Neuropathy) Proximal Type I Muscular Atrophy, Spinal, Type III Juvenile Spinal Muscular Atrophy Spinal Muscular Atrophy Type II Spinal Muscular Atrophy Type III Spinal Muscular Atrophy, Type III Infantile Muscular Atrophy Spinal Muscular Atrophy Type 2 Spinal Muscular Atrophy, Infantile Muscular Atrophy, Spinal, Infantile Werdnig Hoffmann Disease Spinal Muscular Atrophy, Type 3 SMA, Infantile Acute Form Juvenile Muscular Atrophy Spinal Muscular Atrophy Type I Spinal Muscular Atrophy, Mild Childhood and Adolescent Form Werdnig Hoffman Disease Spinal Muscular Atrophy, Type I Spinal Muscular Atrophy, Juvenile Muscular Atrophy, Infantile Spinal Muscular Atrophy, Type II Spinal Muscular Atrophy 1 Muscular Atrophy, Spinal, Type II Type I Spinal Muscular Atrophy Muscular Atrophy, Spinal, Intermediate Type Proximal Hereditary Motor Neuropathy Type I |
| AN |
infantile, childhood or adolescent: for other, MUSCULAR ATROPHY, SPINAL is available |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C2931358 C0043116 C0152109 C0393538 C0700595 |
| DC |
1 |
| definition |
A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3) |
| DX |
19910101 |
| HN |
2000(1988) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
2000; see WERDNIG-HOFFMAN DISEASE 1991-1999, see MUSCULAR ATROPHY, SPINAL 1988-90 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C563560 http://purl.bioontology.org/ontology/MESH/C564806 http://purl.bioontology.org/ontology/MESH/C538253 http://purl.bioontology.org/ontology/MESH/C567023 |
| MDA |
19870428 |
| MMR |
20160208 |
| MN |
C10.574.562.500.750 C10.228.854.468.800 C16.320.400.765 C10.574.500.812 C10.668.467.500.750 |
| notation |
D014897 |
| prefLabel |
Spinal Muscular Atrophies of Childhood |
| TERMUI |
T370507 T752488 T043481 T370510 T752486 T370516 T752516 T812030 T370517 T370515 T370494 T043480 T365685 T370519 T752515 T370509 T781523 T370513 T824549 T370514 T370518 T370512 T000892049 T370497 T043483 T370520 T370495 T000892050 T370496 T370511 T043482 T370508 T752487 |
| TH |
NLM (2017) UNK (19XX) NLM (2000) NLM (2010) NLM (2012) ORD (2010) NLM (1988) OMIM (2013) |
| tui |
T047 |
| subClassOf |