Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mucopolysaccharidosis	MONDO_0019249	[A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.]
mucopolysaccharidosis type 3	MONDO_0018937	[Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.]
mucolipidosis type III	MONDO_0018931	[Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.]
mucolipidosis	MONDO_0019248	[A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.]
Mazabraud syndrome	MONDO_0018933	[Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported.]
monosomy 21	MONDO_0018930	[Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.]
chromosome 21 disorder	MONDO_0700124	[Chromosomal disorder in which chromosome 21 is affected.]
obsolete_JMP syndrome	Orphanet_324999	[Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature.]
pristane	CHEBI_53181
centronuclear myopathy	MONDO_0018947	[Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.]
distal myopathy	MONDO_0018949	[Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.]
multiminicore myopathy	MONDO_0018948	[A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.]
qualitative or quantitative defects of selenoprotein N1	MONDO_0016197
congenital structural myopathy	MONDO_0002921	[A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.]
non-dystrophic myopathy	MONDO_0016110	[A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness.]
obsolete_Hypohidrotic ectodermal dysplasia	Orphanet_238468	[Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).]
Scophthalmus maximus	NCBITaxon_52904
cobalamin metabolic process	GO_0009235	[The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.]
McLeod neuroacanthocytosis syndrome	MONDO_0018945	[A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.]
obsolete_disorder of protein N-glycosylation	Orphanet_309347