Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
obsolete anaplastic malignant intracranial meningioma	DOID_7025
parastremmatic dwarfism	DOID_0111539	[An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.]
Charcot-Marie-Tooth disease X-linked recessive 2	DOID_0110208	[A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2.]
obsolete site specific early onset breast cancer syndrome	DOID_7029
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	DOID_0111525	[A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG2 on chromosome 17q23.3.]
parasitic eyelid infestation	DOID_13823
Mullerian aplasia and hyperandrogenism	DOID_0111526	[A sex development disorder characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12.]
tetanic cataract	DOID_13822	[A cataract resulting from hypocalcemia.]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3	DOID_0111523	[A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.]
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5	DOID_0111524	[A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TOP3A on chromosome 17p11.2.]
epithelioid macrophage	CL_0002150
obsolete congenital pneumonia	DOID_13820
autosomal dominant progressive external ophthalmoplegia 1	DOID_0111521	[A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG on chromosome 15q26.1.]
choroid epithelioid cell melanoma	DOID_7041
autosomal recessive progressive external ophthalmoplegia 1	DOID_0111522	[A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in POLG on chromosome 15q26.1.]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	DOID_0111520	[A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in TWNK on chromosome 10q24.31.]
anisakiasis	DOID_7033	[A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung.]
Pseudoterranova decipiens	NCBITaxon_6271
Anisakis simplex	NCBITaxon_6269
alkaloid	CHEBI_22315	[Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids.]