All terms in DOID

Label Id Description
obsolete tuberculous bronchiectasis DOID_9426 [A pulmonary tuberculosis characterized by bronchial compression and obstruction as a result of enlarged lymph nodes of the primary complex or by infiltration of the wall of the bronchi by caseous lymph nodes.]
Abnormal peripheral nervous system physiology HP_0032120
spondyloepimetaphyseal dysplasia with joint laxity type 2 DOID_0112199 [A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2.]
spondyloepimetaphyseal dysplasia with joint laxity type 1 DOID_0112198 [A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33.]
spondylometaepiphyseal dysplasia, short limb-hand type DOID_0112196 [A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3.]
spondyloperipheral dysplasia DOID_0112195 [An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.]
Filippi syndrome DOID_0112194 [A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1.]
tetraamelia syndrome 2 DOID_0112193 [A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1.]
tetraamelia syndrome DOID_0112191 [A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system.]
Dorylaimia NCBITaxon_1457286
Enoplea NCBITaxon_119088
Serinales NCBITaxon_2916678
vaginal tubulovillous adenoma DOID_8104 [A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma.]
extrahepatic bile duct cystadenoma DOID_8105 [A bile duct cystadenoma located_in an extrahepatic bile duct.]
fetal adenoma DOID_8102
fibroepithelial polyp of urethra DOID_8108
chronic cholangitis DOID_9439
nephrogenic adenoma of the urethra DOID_8109
nephrogenic adenoma DOID_7334
cellular phase chronic idiopathic myelofibrosis DOID_8106