All terms in DOID

Label Id Description
miosis SYMP_0000419
contracted pupil SYMP_0000418
Abnormality of the lower urinary tract HP_0010936
myoclonic dystonia 34 DOID_0060957 [A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22.]
dystonia DOID_543 [A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.]
Bladder diverticulum HP_0000015
orofaciodigital syndrome XIV DOID_0060958 [An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13.]
pupil symptom SYMP_0000417
eye symptom SYMP_0019163
orofaciodigital syndrome II DOID_0060959 [An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33.]
incomplete_transcript_exonic_variant SO_0002080
incomplete_transcript_variant SO_0002075
atom CHEBI_33250
incomplete_transcript_CDS SO_0002081
amaurosis fugax SYMP_0000415
amaurosis SYMP_0000416
incomplete_transcript_coding_splice_variant SO_0002082
incomplete_transcript_splice_region_variant SO_0002079
loss of vision SYMP_0000321
2KB_downstream_variant SO_0002083