King Denborough syndrome

A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.

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.

osteomalacia

A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.

D-2-hydroxyglutaric aciduria 1

A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3.

cataract 4 multiple types

A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.