All terms in DOID

Label Id Description
critical illness polyneuropathy DOID_14402
nephrogenic syndrome of inappropriate antidiuresis DOID_0112121 [A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28.]
SHOX-related short stature DOID_0112120 [A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively.]
severe congenital neutropenia 7 DOID_0112129 [A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3.]
X-linked severe congenital neutropenia DOID_0112128 [A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23.]
HRPT-related hyperuricemia DOID_0112127 [A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.]
hyperuricemia DOID_1920 [An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.]
Stocco Dos Santos type X-linked intellectual disability DOID_0112126 [A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22.]
alpha-thalassemia myelodysplasia syndrome DOID_0112125 [A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1.]
X-linked retinitis pigmentosa and sinorespiratory infections DOID_0112124 [A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4.]
Chlamydiales NCBITaxon_51291
pericyte CL_0000669
connective tissue cell CL_0002320
contractile cell CL_0000183
collagen secreting cell CL_0000667
extracellular matrix secreting cell CL_0000327
combined oxidative phosphorylation deficiency 48 DOID_0112112 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2.]
combined oxidative phosphorylation deficiency 50 DOID_0112111 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1.]
primordial germ cell CL_0000670
combined oxidative phosphorylation deficiency 49 DOID_0112110 [A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2.]