All terms in DOID

Label Id Description
Larsen-like syndrome B3GAT3 type DOID_0080575 [A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.]
spondyloepimetaphyseal dysplasia, Genevieve-type DOID_0080576 [A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22.]
obsolete tumor of the thecoma fibroma group DOID_5472
intraorbital meningioma DOID_4141 [A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance.]
orbital cancer DOID_4143 [A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.]
biliary dyskinesia DOID_4140 [A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree.]
ovarian serous adenofibroma DOID_5474 [An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid.]
orbital disease DOID_930 [An adnexa disease that is located_in the eye socket.]
obsolete meningioma by site DOID_4142
cervical adenofibroma DOID_5476 [A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.]
uterine corpus adenofibroma DOID_5475 [An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.]
obsolete herpes zoster dermatitis DOID_4144
gastrointestinal adenoma DOID_4147
fallopian tube adenofibroma DOID_5478 [A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands.]
clear cell adenofibroma DOID_5477 [An adenofibroma that is characterized by the presence of cells with clear cytoplasm.]
blurred vision with haloes SYMP_0020010
congenital disorder of glycosylation It DOID_0080570 [A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31.]
congenital disorder of glycosylation Iu DOID_0080571 [A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.]
papillary adenofibroma DOID_5479 [An adenofibroma that is characterized by finger-like projections on histology.]
congenital disorder of glycosylation Iw DOID_0080572 [A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.]