All terms in DOID

Label Id Description
syringomyelia DOID_327
pontocerebellar hypoplasia type 1B DOID_0060266 [A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene.]
pontocerebellar hypoplasia type 1A DOID_0060265 [A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene.]
porencephaly DOID_0060263 [A brain disease that is characterized by encephalomalacia and cystic brain lesions.]
ptosis DOID_0060260 [An eye disease characterized by the drooping or falling of the upper or lower eyelid.]
Melkersson-Rosenthal syndrome DOID_1761
facial nerve neoplasm DOID_1760
tobacco smoke NCIT_C829 [Smoke from burning tobacco (cigarettes, cigars, or pipes) and exhaled by a smoker. Tobacco smoke contains nicotine, a stimulant, and other biologically active chemicals having carcinogenic properties.]
progressive muscular atrophy DOID_318
lethal_variant SO_0001773
oculodentodigital dysplasia DOID_0060291 [A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.]
tenosynovitis of foot and ankle DOID_312 [A tenosynovitis that is located in the foot and ankle.]
Ohdo syndrome, SBBYS variant DOID_0060290 [A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22.]
Ohdo syndrome DOID_0060289 [A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.]
MERRF syndrome DOID_310
tenosynovial giant cell tumor DOID_314
obsolete synovitis and tenosynovitis DOID_313
complement component 6 deficiency DOID_0060299 [A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene.]
complement component 4b deficiency DOID_0060298 [A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency.]
complement component 4a deficiency DOID_0060297 [A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency.]