All terms in DOID

Label Id Description
juvenile glaucoma DOID_1068 [A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.]
primary open angle glaucoma DOID_1070 [An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.]
proteosome-associated autoinflammatory syndrome 5 DOID_0060919 [A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22.]
open-angle glaucoma DOID_1067 [A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.]
glaucoma DOID_1686 [An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.]
nausea SYMP_0000458 [Nausea is a digestive system symptom characterized by an uneasy or unsettled feeling in the stomach together with an urge to vomit.]
residual stage of open angle glaucoma DOID_1066
Craniata <chordates> NCBITaxon_89593
cystinosis DOID_1064 [A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.]
Fanconi syndrome DOID_1062 [A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.]
obsolete renal aminoaciduria DOID_1061
Hartnup disease DOID_1060 [An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.]
karyomegalic interstitial nephritis DOID_0060911 [An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.]
craniosynostosis 7 DOID_0060912 [A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation.]
glandular cystitis DOID_2392
chronic cystitis DOID_1680
abnormal weight gain SYMP_0000455 [A weight gain that is characterized as deviating from what is normal or usual, typically in a way that is undesirable or worrying.]
weight gain SYMP_0000403 [A weight symptom that is characterized by an increase in body weight. This can involve an increase in muscle mass, fat deposits, excess fluids such as water or other factors.]
left upper quadrant abdominal pain SYMP_0000456 [An abdominal pain that is characterized by occurring in the left upper quadrant abdominal pain of the abdomen that can be caused by a stomach ulcer, acute gastritis, a viral infection, or indigestion, or may be an issue with one's lungs.]
right upper quadrant abdominal rigidity SYMP_0000453