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loading...| Preferred Name |
Hemochromatosis, type 2 |
| Synonyms |
Juvenile hemochromatosis |
| ID |
http://purl.bioontology.org/ontology/MESH/C537247 |
| altLabel |
Juvenile hemochromatosis Hemochromatosis, Type 2A Hemochromatosis, juvenile |
| cui |
C1865614 C0268060 |
| Has mapping qualifier | |
| HM |
D006432/Q000151 |
| II |
D064451 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
35 |
| MMR |
20150926 |
| notation |
C537247 |
| prefLabel |
Hemochromatosis, type 2 |
| SC |
3 |
| Scope Statement |
An autosomal recessive form of congenital hemochromatosis characterized by severe iron loading and organ failure before 30 years of age. It is characterized by by a triad of HEMOSIDEROSIS; HEART DISEASE; LIVER CIRRHOSIS; DIABETES MELLITUS and abnormal skin pigmentation. Mutations in the HJV gene have been identified. OMIM: 602390 |
| TERMUI |
T741934 T741932 T832591 T741933 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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