Mayer-Rokitansky-Kuster-Hauser syndrome type 1

A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.

Mayer-Rokitansky-Kuster-Hauser syndrome type 2

A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.

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.