immunodeficiency-centromeric instability-facial anomalies syndrome

A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.

hemoglobin H disease

An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.

nephrotic syndrome type 14

A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21.

1-chloro-2,4-dinitrobenzene allergic contact dermatitis

An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene.

spinal neurofibromatosis

A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots.

acute endometritis

An endometritis that is characterized by onset within the past 1 - 3 days.

mitochondrial DNA depletion syndrome 8b

A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22.

acute cervicitis

A cervicitis that is characterized by onset within the past 1 - 3 days.

Usher syndrome type 1E

An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21.

amyotrophic lateral sclerosis type 10

An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.