Li-Fraumeni syndrome 2

A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1.

Li-Fraumeni syndrome 1

A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1.

N,N'-diethylthiourea allergic contact dermatitis

An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea.

N,N'-diphenylthiourea allergic contact dermatitis

An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea.

mucopolysaccharidosis VI

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.

Leber congenital amaurosis 11

A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32.

glycoproteinosis

A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

Charcot-Marie-Tooth disease type 4D

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.

beta-mannosidosis

A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.

autosomal recessive limb-girdle muscular dystrophy type 2O

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34.