Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Weill-Marchesani syndrome	DOID_0050475	[A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.]
primary ciliary dyskinesia 15	DOID_0110623	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.]
primary ciliary dyskinesia 30	DOID_0110624	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.]
primary ciliary dyskinesia 17	DOID_0110621	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.]
primary ciliary dyskinesia 9	DOID_0110622	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.]
primary ciliary dyskinesia 35	DOID_0110620	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21.]
Onchocercidae	NCBITaxon_6296
Wolfram syndrome 1	DOID_0110629	[An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.]
primary ciliary dyskinesia 26	DOID_0110627	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.]
primary ciliary dyskinesia 24	DOID_0110628	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.]
primary ciliary dyskinesia 20	DOID_0110625	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.]
primary ciliary dyskinesia 2	DOID_0110626	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.]
obsolete primary Escherichia coli infectious disease	DOID_0050478
Liddle syndrome	DOID_0050477	[A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.]
obsolete papillary cystadenoma	DOID_2630
obsolete commensal Klebsiella infectious disease	DOID_0050479
obsolete serous cystadenoma	DOID_2631
obsolete AIDS related complex	DOID_1308	[A Human immunodeficiency virus infectious disease that results_in infection with mild symptoms, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom swollen lymph glands, has_symptom fever, has_symptom diarrhea, and has_symptom weight loss.]
papillary serous adenocarcinoma	DOID_2632	[A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies.]
obsolete mucinous cystadenoma	DOID_2633