loading...| Preferred Name | MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED | |
| Synonyms |
MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/613869 |
|
| altLabel |
MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED |
|
| cui |
C5190691 |
|
| Gene Locus |
11q22.3-q23.1 |
|
| Gene Symbol |
CRYA2 CTRCT16 CMD1II CRYAB CTPP2 MFM2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU034751 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU034748 http://purl.bioontology.org/ontology/OMIM/MTHU043249 http://purl.bioontology.org/ontology/OMIM/MTHU012550 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU042433 http://purl.bioontology.org/ontology/OMIM/MTHU034749 http://purl.bioontology.org/ontology/OMIM/MTHU034619 http://purl.bioontology.org/ontology/OMIM/MTHU043250 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU000347 http://purl.bioontology.org/ontology/OMIM/MTHU034752 http://purl.bioontology.org/ontology/OMIM/MTHU043248 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
613869 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED |
|
| Scope Statement |
Rapidly progressive [MISCELLANEOUS] Onset in first 8 weeks of life [MISCELLANEOUS] Caused by mutation in the alpha-B crystallin gene (CRYAB, 123590.0005) [MOLECULAR BASIS] Death usually in the first 2 years of life [MISCELLANEOUS] |
|
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/SCTSPA/782883004 | SCTSPA | CUI | |
| http://purl.bioontology.org/ontology/SNOMEDCT/782883004 | SNOMEDCT | CUI | |
| http://purl.obolibrary.org/obo/OMIM_613869 | CCO | LOOM | |
| http://identifiers.org/omim/613869 | REXO | LOOM | |
| http://identifiers.org/omim/613869 | GEXO | LOOM | |
| http://identifiers.org/omim/613869 | RETO | LOOM |