Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Farber lipogranulomatosis	DOID_0050464	[A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.]
primary ciliary dyskinesia 10	DOID_0110612	[A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.]
primary ciliary dyskinesia 16	DOID_0110613	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.]
primary ciliary dyskinesia 34	DOID_0110610	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13.]
primary ciliary dyskinesia 27	DOID_0110611	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.]
primary ciliary dyskinesia 13	DOID_0110618	[A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.]
primary ciliary dyskinesia 33	DOID_0110619	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.]
primary ciliary dyskinesia 8	DOID_0110616	[A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25.]
primary ciliary dyskinesia 5	DOID_0110617	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.]
primary ciliary dyskinesia 4	DOID_0110614	[A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1.]
primary ciliary dyskinesia 25	DOID_0110615	[A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.]
ovarian germ cell monodermal and highly specialized teratoma	DOID_2641	[A monodermal teratoma that has_material_basis in germ cells that are highly specialized and is located_in the ovary.]
Costello syndrome	DOID_0050469	[A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.]
yellow nail syndrome	DOID_0050468	[A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached.]
obsolete lymphangiomyoma	DOID_2642
obsolete medullary carcinoma	DOID_3974
obsolete tertiary syphilitic encephalitis	DOID_0050492
serous surface papilloma	DOID_2614
meningovascular neurosyphilis	DOID_0050491	[A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.]
pituitary-dependent Cushing's disease	DOID_3946