All terms in DOID

Label Id Description
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
Aplasia/hypoplasia of the uterus HP_0008684
unidirectional_gene_fusion SO_0002085
gene_fusion SO_0001565
bidirectional_gene_fusion SO_0002086
hypervalinemia and hyperleucine-isoleucinemia DOID_0060950 [An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.]
polycystic kidney disease 6 DOID_0060951 [An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27.]
autosomal dominant polycystic kidney disease DOID_898 [A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.]
non_coding_transcript_splice_region_variant SO_0002088
non_coding_transcript_variant SO_0001619
polycystic kidney disease 7 DOID_0060952 [A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13.]
3_prime_UTR_exon_variant SO_0002089
3_prime_UTR_variant SO_0001624
ZTTK syndrome DOID_0060953 [A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22.]
Holoprosencephaly 13, X-linked DOID_0060954 [A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25.]