Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
reticulate acropigmentation of Kitamura	DOID_0060258	[A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.]
dyschromatosis symmetrica hereditaria	DOID_0060257	[A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.]
Dowling-Degos disease	DOID_0060256	[A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.]
Dyspnea	HP_0002094	[Difficult or labored breathing.]
Immunologic hypersensitivity	HP_0100326	[Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.]
C_gene_segment	SO_0000478	[Genomic DNA of immunoglobulin/T-cell receptor gene including C-region (and introns if present) with 5' UTR (SO:0000204) and 3' UTR (SO:0000205).]
contig_read	SO_0000476	[A DNA sequencer read which is part of a contig.]
five_prime_coding_exon_noncoding_region	SO_0000486	[The sequence of the 5' exon preceding the start codon.]
obsolete intrathoracic lymph node mast cell malignancy	DOID_356
DJ_J_cluster	SO_0000485	[Genomic DNA of immunoglobulin/T-cell receptor gene in rearranged configuration including at least one DJ-gene, and one J-gene.]
mast-cell sarcoma	DOID_355	[A sarcoma that has_material_basis in mast cells.]
three_prime_coding_exon_noncoding_region	SO_0000484	[The sequence of the 3' exon that is not coding.]
tiling_path_clone	SO_0000480	[A clone which is part of a tiling path. A tiling path is a set of sequencing substrates, typically clones, which have been selected in order to efficiently cover a region of the genome in preparation for sequencing and assembly.]
tiling_path_fragment	SO_0000474	[A piece of sequence that makes up a tiling_path (SO:0000472).]
obsolete upper limb lymph node mast cell malignancy	DOID_357
rippling muscle disease 2	DOID_0060255	[A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.]
scapuloperoneal myopathy	DOID_0060253	[A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.]
sclerocornea	DOID_0060252	[A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.]
partial of retinal vein occlusion	DOID_1726
scoliosis	DOID_0060249	[A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.]