All terms in DOID

Label Id Description
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies DOID_0081262 [An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13.]
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities DOID_0081263 [An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13.]
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome DOID_0081264 [A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R).]
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature DOID_0081265 [An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22.]
azole CHEBI_68452
monocyclic heteroarene CHEBI_38179
diffuse low-grade glioma, MAPK pathway–altered DOID_0081260 [A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.]
low grade glioma DOID_0080829 [A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes).]
angiocentric glioma DOID_0081261 [A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation.]
BOP clade NCBITaxon_359160
acromesomelic dysplasia-3 DOID_0081237 [An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22.]
acromesomelic dysplasia DOID_0080049 [An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism.]
acromesomelic dysplasia-4 DOID_0081238 [An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21.]
injection anthrax DOID_0081239 [An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores.]
anthrax disease DOID_7427 [A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.]
autosomal recessive intellectual developmental disorder 73 DOID_0081233 [An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11.]
autosomal recessive intellectual developmental disorder 75 DOID_0081234 [An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15.]
autosomal recessive intellectual developmental disorder 76 DOID_0081235 [An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33.]
Talipes equinovarus HP_0001762
Talipes HP_0001883