All terms in DOID

Label Id Description
obsolete introverted personality DOID_13224
homocystinuria-megaloblastic anemia cblG type DOID_0112256 [An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.]
susceptibility to uric acid nephrolithiasis MIM_605990
spondyloepiphyseal dysplasia Nishimura type DOID_0112288 [A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1.]
spondyloepiphyseal dysplasia DOID_0112280 [An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.]
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech DOID_0112287 [A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.]
obsolete Diffuse cholesteatosis of middle ear and mastoid DOID_13232
disease of cellular proliferation DOID_14566 [A disease that is characterized by abnormally rapid cell division.]
spondyloepiphyseal dysplasia with punctate corneal dystrophy DOID_0112286 [A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma.]
autosomal dominant spondyloepiphyseal dysplasia tarda DOID_0112285 [A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.]
spondyloepiphyseal dysplasia Kondo-Fu type DOID_0112283 [A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1.]
germ cell CL_0000586
germ line cell CL_0000039
spondyloepiphyseal dysplasia Kimberley type DOID_0112282 [A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1.]
spondyloepiphyseal dysplasia Stanescu type DOID_0112281 [A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.]
ranitidine CHEBI_8776
C-nitro compound CHEBI_35716
internal pathological resorption DOID_13239
Haverhill fever DOID_13238 [A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain.]
spondyloepiphyseal dysplasia tarda with characteristic facies DOID_0112289 [A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay.]