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.

pentosuria

An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.

endometrial endometrioid adenocarcinoma, secretory variant

An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium.

persistent severe asthma

A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity.

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.