All terms in DOID

Label Id Description
Anoplura NCBITaxon_30005
ossifying fibroma DOID_180 [A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma.]
peritoneal mesothelioma DOID_1788 [A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum.]
adrenal rest tumor DOID_1786
pontocerebellar hypoplasia type 10 DOID_0060279 [A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene.]
pontocerebellar hypoplasia type 9 DOID_0060278 [A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene.]
accessory nerve disease DOID_339 [A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve).]
non_coding_transcript_exon_variant SO_0001792
histrionic personality disorder DOID_334 [A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood.]
loss_of_heterozygosity SO_0001786
obsolete chronic factitious illness with physical symptoms DOID_333
splice_donor_5th_base_variant SO_0001787
obsolete cranial nerve neoplasm DOID_338 [A central nervous system cancer develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells.]
spinal accessory nerve neoplasm DOID_337
obsolete non-traumatic tendon rupture DOID_336
pontocerebellar hypoplasia type 8 DOID_0060277 [A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene.]
pontocerebellar hypoplasia type 7 DOID_0060276 [A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene.]
pontocerebellar hypoplasia type 6 DOID_0060275 [A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene.]
pontocerebellar hypoplasia type 5 DOID_0060274 [A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.]
pontocerebellar hypoplasia type 4 DOID_0060273 [A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene.]