All terms in DOID

Label Id Description
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.]
dystonia 35, childhood-onset DOID_0060955 [A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13.]
dystonia 37, early-onset with striatal lesions DOID_0060956 [A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21.]
anxiety SYMP_0000412 [A neurological and physiological symptom that is characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill.]
Anemia NCBITaxon_12939
Anemiaceae NCBITaxon_693766
Ullrich congenital muscular dystrophy 1A DOID_0060946 [An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22.]