All terms in DOID

Label Id Description
developmental dysplasia of the hip 1 DOID_0060931 [A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22.]
developmental dysplasia of the hip 2 DOID_0060932 [A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2.]
developmental delay, dysmorphic facies, and brain anomalies DOID_0060933 [An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13.]
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy DOID_0060934 [An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21.]
left upper quadrant abdominal rigidity SYMP_0000470
obsolete diabetic nephropathy DOID_2370
hereditary elliptocytosis DOID_2373 [A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present.]
Chordata NCBITaxon_7711
epigastric abdominal swelling SYMP_0000477
obsolete chronic progressive multiple sclerosis DOID_2376
underweight SYMP_0000475 [A weight symptom that is characterized by weighing less than the normal amount for one's age, height, and build.]
multiple sclerosis DOID_2377 [A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.]
autoimmune disease DOID_417 [An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.]
relapsing-remitting multiple sclerosis DOID_2378 [A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.]
multiple sites abdominal rigidity SYMP_0000471
early satiety SYMP_0000472 [A nutrition, metabolism, and development symptom that is characterized by a feeling of being full after a few bites of food, or before you finish a normal-sized meal.]
otosclerosis 5 DOID_0060924 [An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24.]
otosclerosis DOID_12185 [An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.]
otosclerosis 7 DOID_0060925 [An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13.]
3_prime_UTR_intron_variant SO_0002090