Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
amodiaquine	CHEBI_2674	[A quinoline having a chloro group at the 7-position and an aryl amino group at the 4-position.]
phenols	CHEBI_33853	[Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring.]
aminoquinoline	CHEBI_36709
organochlorine compound	CHEBI_36683	[An organochlorine compound is a compound containing at least one carbon-chlorine bond.]
secondary amino compound	CHEBI_50995	[A compound formally derived from ammonia by replacing two hydrogen atoms by organyl groups.]
tertiary amino compound	CHEBI_50996	[A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups.]
susceptibility to craniosynostosis 5	OMIM_615529
craniosynostosis	DOID_2340	[A synostosis that results_in premature fusion located_in skull.]
atypical chronic myeloid leukemia	DOID_0060597	[A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene.]
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.]
X-linked dominant inheritance	GENO_0000146	[An X-linked inheritance pattern wherein the trait manifests in heterozygotes.]
XFE progeroid syndrome	DOID_0060590	[A 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.]
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.]
autosomal recessive inheritance	GENO_0000148	[An inheritance pattern wherein a trait caused by alleles of an autosomal gene manifests in homozygous but not heterozygote individuals.]
WHIM syndrome	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.]