All terms in DOID

Label Id Description
Duplornaviricota NCBITaxon_2732405
spastic quadriplegic cerebral palsy 3 DOID_0081361 [A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24.]
spondyloepimetaphyseal dysplasia, Missouri type DOID_0080030 [A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities.]
childhood cerebellar neoplasm DOID_5059
fibrous dysplasia DOID_0080031 [A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue.]
Pierpont syndrome DOID_0081362 [An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26.]
distal myopathy with rimmed vacuoles DOID_0081363 [A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35.]
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.]