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loading...| Preferred Name | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | |
| Synonyms |
MFMFIH-CRYAB |
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| Definitions |
(MFMFIH-CRYAB) - A muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. |
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| ID |
http://identifiers.org/omim/613869 |
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| altLabel |
MFMFIH-CRYAB |
|
| definition |
(MFMFIH-CRYAB) - A muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. |
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| id |
OMIM:613869 |
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| notation |
OMIM:613869 |
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| prefLabel |
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/613869 | GEXO | SAME_URI | |
| http://identifiers.org/omim/613869 | RETO | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/613869 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_613869 | CCO | LOOM | |
| http://identifiers.org/omim/613869 | GEXO | LOOM | |
| http://identifiers.org/omim/613869 | RETO | LOOM |