class Information
notation
Category
class Relations
Related from
part of
- Hennekam syndrome
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
- Absent thumb-short stature-immunodeficiency syndrome
- Pancytopenia due to IKZF1 mutations
- Hypohidrotic ectodermal dysplasia with immunodeficiency
- Vici syndrome
- Laron syndrome with immunodeficiency
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- Wiskott-Aldrich syndrome
- Hereditary folate malabsorption
- Multiple intestinal atresia
- Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
- Combined immunodeficiency due to CRAC channel dysfunction
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- Hepatic veno-occlusive disease-immunodeficiency syndrome
- Dyskeratosis congenita
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- Transcobalamin deficiency
- Hoyeraal-Hreidarsson syndrome
- Combined immunodeficiency-enteropathy spectrum