Treacher Collins syndrome 2

A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.

Treacher Collins syndrome 3

A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

Treacher Collins syndrome 1

A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32.

Treacher Collins syndrome 4

A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14.

D-mannitol allergy

A drug allergy that has_allergic_trigger D-mannitol.

vitamin D-dependent rickets type 2B

A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor.

vitamin D-dependent rickets type 2A

A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q.

benzo[d]isothiazol-3-one allergic contact dermatitis

An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one.

D-2-hydroxyglutaric aciduria 2

A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.

hypervitaminosis D

An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D.