- methylmalonic acidemia cblA type [DOID:0060742]
A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
- germinoma [DOID:3304]
A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
- siderosis of eye [DOID:11754]
An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body.
- cataract [DOID:83]
A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
- Barrett's esophagus [DOID:9206]
An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.
- chorioamnionitis [DOID:0050697]
A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.