All terms in DOID

Label Id Description
craniodiaphyseal dysplasia DOID_0080032 [An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal.]
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset DOID_0081364 [A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35.]
craniometaphyseal dysplasia DOID_0080033 [An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses.]
spastic quadriplegic cerebral palsy 2 DOID_0081360 [A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele.]
Thomsen disease DOID_0081336 [A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.]
obsolete secondary syphilitic meningitis DOID_11451
cicatricial ectropion DOID_12782
ectropion DOID_1570
allergic cutaneous vasculitis DOID_11450 [A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin.]
hypersensitivity vasculitis DOID_9809 [A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers.]
obsolete eyelid degenerative disease DOID_10120
myofibrillar myopathy 11 DOID_0081338 [A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11.]
congenital myopathy 2B DOID_0081339 [A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.]
Wiedemann-Rautenstrauch syndrome DOID_0081333 [A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22.]
Nestor-Guillermo progeria syndrome DOID_0081334 [A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age.]
Becker disease DOID_0081335 [A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.]
cerebral artery occlusion DOID_10127 [A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries.]
pseudotumor cerebri DOID_11459
intracranial hypertension DOID_9428 [A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema.]
brain compression DOID_11457 [A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain.]