Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hereditary sensory neuropathy	DOID_0050548	[A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.]
gene_silenced_by_histone_deacetylation	SO_0001227	[A gene that is silenced by histone deacetylation.]
gene_silenced_by_histone_modification	SO_0001225	[A gene that is silenced by histone modification.]
hereditary sensory and autonomic neuropathy type 1	DOID_0070162	[A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance.]
gene_silenced_by_histone_methylation	SO_0001226	[A gene that is silenced by histone methylation.]
silenced_gene	SO_0000127	[A gene that is silenced.]
atypical hereditary sensory neuropathy	DOID_0070160	[A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities.]
gene_silenced_by_RNA_interference	SO_0001224	[A gene that is silenced by RNA interference.]
mobile	SO_0001234	[An attribute describing a feature that has either intra-genome or intracellular mobility.]
methylinosine	SO_0001233	[A modified RNA base in which methylhypoxanthine is bound to the ribose ring.]
modified_inosine	SO_0001274	[A modified inosine is an inosine base feature that has been altered.]
ribothymidine	SO_0001232	[A modified RNA base in which thymine is bound to the ribose ring.]
modified_RNA_base_feature	SO_0000250	[A post_transcriptionally modified base.]
Debaryomycetaceae	NCBITaxon_766764
seven_methylguanine	SO_0001231	[A modified RNA base in which guanine is methylated at the 7- position.]
spermatogenic failure 8	DOID_0070169	[A male infertility characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.]
inosine	SO_0001230	[A modified RNA base in which hypoxanthine is bound to the ribose ring.]
spermatogenic failure 6	DOID_0070167	[A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26.]
spermatogenic failure 3	DOID_0070168	[A male infertility characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21.]
spermatogenic failure 4	DOID_0070176	[An azoospermia characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.]