All terms in DOID

Label Id Description
myelodysplastic/myeloproliferative neoplasm DOID_4972 [A myeloid neoplasm that results_in the overproduction of white blood cells.]
Nance-Horan syndrome DOID_0060599 [A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.]
syndrome DOID_225 [A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.]
X-linked dominant disease DOID_0080009 [A X-linked monogenic disease that has_material_basis_in dominant inheritance.]
NMD_escaping_variant SO_0002320
functionally_abnormal SO_0002218
stop_gained_NMD_triggering SO_0002321
stop_gained SO_0001587
NMD_triggering_variant SO_0002319
stop_gained_NMD_escaping SO_0002322
frameshift_variant_NMD_triggering SO_0002323
frameshift_variant SO_0001589
XFE progeroid syndrome DOID_0060590 [A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13.]
progeroid syndrome DOID_0081332 [A syndrome that is characterized by the premature onset of age-related pathologies.]
autosomal recessive disease DOID_0050737 [An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.]
altered_gene_product_level SO_0002314
functional_effect_variant SO_0001536
WHIM syndrome 1 DOID_0060591 [An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22.]
primary immunodeficiency disease DOID_612 [An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.]
autosomal dominant disease DOID_0050736 [An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.]