All terms in DOID

Label Id Description
obsolete Helicobacter pylori gastritis DOID_4036 [A commensal Helicobacter infectious disease that involves inflammation of the stomach lining caused by Helicobacter pylori, which contributes to ulcer formation by increasing acid production, interfering with the normal defenses against stomach acid, and producing toxins. The symptoms include indigestion and pain or discomfort in the upper abdomen.]
susceptibility to chordoma MIM_215400
obsolete Crohn's associated gastritis DOID_4039
granulomatous gastritis DOID_4038
obsolete ovine progressive interstitial pneumonia DOID_5369 [A viral infectious disease that results_in inflammation located_in lungs, has_material_basis_in Ovine progressive pneumonia virus, which is transmitted_by droplet spread of oronasal secretion, and transmitted_by ingestion of contaminated milk or colostrum. The infection has_symptom coughing, has_symptom bronchial exudate, has_symptom depression, and has_symptom fever.]
anal abscess SYMP_0020002
acholic stool SYMP_0020003
airway stenosis SYMP_0020000 [A respiratory system and chest symptom that is characterized by a narrowing in the airway that obstructs the passage of air into the lungs. Examples include tracheal and laryngotracheal stenosis.]
apthous ulcer SYMP_0020001 [A skin ulcer that is characterized by a small recurrent, painful, round or ovoid ulcers with well-defined erythematous margins, like a halo, and a central yellow or gray floor found in the soft tissue of the oral cavity.]
Cladosporium cf. cladosporoides NCBITaxon_2036922
cortisone reductase deficiency 1 DOID_0090141 [A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.]
cortisone reductase deficiency DOID_0090139 [An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism.]
cystathioninuria DOID_0090142 [An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.]
obsolete lupus vulgaris DOID_5380
cortisone reductase deficiency 2 DOID_0090140 [A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.]
dopamine beta-hydroxylase deficiency DOID_0090145 [An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.]
breast hemangiopericytoma DOID_5370 [A hemangiopericytoma that is manifested in the breast.]
retroperitoneal hemangiopericytoma DOID_5373
brachyolmia-amelogenesis imperfecta syndrome DOID_0090143 [A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.]
Donnai-Barrow syndrome DOID_0090144 [A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31.]