All terms in DOID

Label Id Description
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
downstream_gene_variant SO_0001632
catatonia SYMP_0000413 [A neurological and physiological symptom that is characterized by a marked psychomotor disturbance that may involve stupor or mutism, negativism, rigidity, purposeless excitement, echolalia, echopraxia, and inappropriate or bizarre posturing and is associated with various medical conditions (as schizophrenia and mood disorders).]
exonic_splice_region_variant SO_0002084
splice_region_variant SO_0001630
dysarthria SYMP_0000414 [A neurological and physiological symptom that is characterized by a difficulty in articulating words due to disease of the central nervous system.]
Hypoplasia of the uterus HP_0000013