Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
septum	UBERON_0003037
centronuclear myopathy 1	DOID_0111223	[An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.]
psoriatic arthritis susceptibility	OMIM_607507
psoriatic arthritis	DOID_9008	[A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.]
susceptibility to restless legs syndrome 2	OMIM_608831
neurofibromatosis 1	DOID_0111253	[A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2.]
glutaric acidemia I	DOID_0111254	[An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13.]
Parkinson's disease 21	DOID_0111251	[A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years.]
bone of free limb or fin	UBERON_0004375
neurofibromatosis 2	DOID_0111252	[A neurofibromatosis characterized by usually bilateral tumors of the eighth cranial nerve, meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord that has_material_basis_in heterozygous of mutation in NF2 on 22q12.2.]
Parkinson's disease 3	DOID_0111250	[A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region.]
postaxial acrofacial dysostosis	DOID_0111259	[A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2.]
gamma-glutamyl transpeptidase deficiency	DOID_0111257	[An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23.]
pentosuria	DOID_0111258	[An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.]
fin bone	UBERON_0004376
McKusick-Kaufman syndrome	DOID_0111255	[A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.]
hyperferritinemia-cataract syndrome	DOID_0111256	[A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33.]
Propionibacteriaceae	NCBITaxon_31957
congenital muscular dystrophy-dystroglycanopathy type A6	DOID_0111242	[A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.]
acromicric dysplasia	DOID_0111243	[An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.]