All terms in DOID

Label Id Description
molybdenum cofactor deficiency type B DOID_0111163 [A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.]
urethral intrinsic sphincter deficiency DOID_13461
molybdenum cofactor deficiency type A DOID_0111164 [A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.]
Crouzon syndrome-acanthosis nigricans syndrome DOID_0111161 [A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.]
epidermal nevus DOID_0111162 [A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.]
camptodactyly-tall stature-scoliosis-hearing loss syndrome DOID_0111160 [A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.]
dysthymic disorder DOID_12139 [A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.]
obsolete secondary cutaneous syphilis DOID_13469
obsolete primary genital syphilis DOID_13468
subcortical band heterotopia DOID_0111169 [A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex.]
obsolete acquired coagulation factor deficiency DOID_12136
hypohidrotic ectodermal dysplasia DOID_14793 [An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).]
obsolete acquired factor VIII deficiency DOID_12135
Dyggve-Melchior-Clausen disease DOID_0111167 [A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21.]
factor VIII deficiency DOID_12134 [A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.]
glioma susceptibility 1 MIM_137800
sepiapterin reductase deficiency DOID_0111168 [A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.]
low compliance bladder DOID_12144
neurogenic bladder DOID_12143
progressive peripheral pterygium DOID_13474 [A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula.]