loading...| Preferred Name |
MYOFIBROMATOSIS, INFANTILE, 1 |
|
| Synonyms |
FIBROMATOSIS, CONGENITAL GENERALIZED CGF IMF1 MYOFIBROMATOSIS, JUVENILE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/228550 |
|
| altLabel |
FIBROMATOSIS, CONGENITAL GENERALIZED CGF IMF1 MYOFIBROMATOSIS, JUVENILE |
|
| cui |
C4551572 C0432284 |
|
| Gene Locus |
5q32 |
|
| Gene Symbol |
IMF1 PDGFR PENTT PDGFRB KOGS IBGC4 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU041904 http://purl.bioontology.org/ontology/OMIM/MTHU041903 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
228550 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MYOFIBROMATOSIS, INFANTILE, 1 |
|
| Scope Statement |
Caused by mutation in the platelet-derived growth factor receptor, beta, gene (PDGFRB, 173410.0003) [MOLECULAR BASIS] Tumors may show spontaneous regression [MISCELLANEOUS] Visceral multicentric involvement has a poorer prognosis than solitary lesions limited to the skin [MISCELLANEOUS] Solitary disease is more common in males [MISCELLANEOUS] Onset at birth or in early childhood [MISCELLANEOUS] |
|
| tui |
T047 T191 |