loading...| Preferred Name |
HEMOPHILIA B |
| Synonyms |
F9 DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/306900 |
| altLabel |
F9 DEFICIENCY HEMOPHILIA B(M) PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY HEMB CHRISTMAS DISEASE HEMOPHILIA B LEYDEN FACTOR IX DEFICIENCY |
| cui |
C0008533 |
| Gene Locus |
Xq27.1-q27.2 |
| Gene Symbol |
F9 THPH8 HEMB |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007558 http://purl.bioontology.org/ontology/OMIM/MTHU007555 http://purl.bioontology.org/ontology/OMIM/MTHU007554 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
306900 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HEMOPHILIA B |
| Scope Statement |
Caused by mutation in the coagulation factor IX gene (F9, 300746.0001) [MOLECULAR BASIS] Patient with factor IX Leyden variants (see, e.g., 300746.0001) have bleeding in childhood that improves or resolves after puberty [MISCELLANEOUS] Patients with hemophilia B(M) variants (see, e.g., 300746.0030) also have prolonged PT [MISCELLANEOUS] Phenotypically indistinguishable from hemophilia A (306700) [MISCELLANEOUS] |
| tui |
T047 |