B-lymphoblastic leukemia/lymphoma with BCR-ABL1

A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein.

Charcot-Marie-Tooth disease axonal type 2F

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).

autosomal dominant distal hereditary motor neuronopathy 3

An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23.

autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis

A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.

autosomal dominant distal hereditary motor neuronopathy 2

An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy with onset between 15 to 25 years of age and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24.

maturity-onset diabetes of the young type 3

A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31.

maturity-onset diabetes of the young type 4

A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2.

maturity-onset diabetes of the young type 1

A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.

maturity-onset diabetes of the young type 9

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.

maturity-onset diabetes of the young type 10

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.