- acute biphenotypic leukemia [DOID:9953]
An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens.
- Noonan syndrome [DOID:3490]
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
- neurofibromatosis-Noonan syndrome [DOID:0111683]
A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.
- corpus callosum agenesis-abnormal genitalia syndrome [DOID:0112151]
A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.