HEMOCHROMATOSIS, TYPE 2A

HFE2

http://purl.bioontology.org/ontology/OMIM/602390

HFE2

HEMOCHROMATOSIS, TYPE 2

HFE2A

HEMOCHROMATOSIS, JUVENILE

JH

C1865614

C0268060

1q21

HFE2A

HJV

http://purl.bioontology.org/ontology/OMIM/MTHU000132

http://purl.bioontology.org/ontology/OMIM/MTHU001688

http://purl.bioontology.org/ontology/OMIM/MTHU012517

http://purl.bioontology.org/ontology/OMIM/MTHU012513

http://purl.bioontology.org/ontology/OMIM/MTHU002081

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU006969

http://purl.bioontology.org/ontology/OMIM/MTHU057172

http://purl.bioontology.org/ontology/OMIM/MTHU036428

http://purl.bioontology.org/ontology/OMIM/MTHU009472

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU037275

http://purl.bioontology.org/ontology/OMIM/MTHU012522

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU001136

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU012766

http://purl.bioontology.org/ontology/OMIM/MTHU019869

http://purl.bioontology.org/ontology/OMIM/MTHU004860

Phenotype description, molecular basis known.

602390

3

pound

HEMOCHROMATOSIS, TYPE 2A

Caused by mutation in the hemojuvelin gene (HJV, 608374.0001) [MOLECULAR BASIS]

Onset is usually before age 30 [MISCELLANEOUS]

T047