Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
XYLT1-CDG	MONDO_0018273
disorder of O-xylosylglycan synthesis	MONDO_0017742
leukoplakia	MONDO_0043243	[A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.]
precancerous condition	MONDO_0021074	[A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia.]
albinism	MONDO_0043209	[A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.]
Laternula elliptica	NCBITaxon_228457
obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature	MONDO_0018286
obsolete X-linked congenital disorder of glycosylation with intellectual disability as a major feature	MONDO_0018285
obsolete congenital disorder of glycosylation with epilepsy as a major feature	MONDO_0018287
qualitative or quantitative defects of alpha-dystroglycan	MONDO_0018282
congenital muscular dystrophy with hyperlaxity	MONDO_0018281	[Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.]
primary qualitative or quantitative defects of alpha-dystroglycan	MONDO_0018283
muscle-eye-brain disease with bilateral multicystic leucodystrophy	MONDO_0018280	[Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts.]
cobblestone lissencephaly	MONDO_0018869	[Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.]
Stramenopiles	NCBITaxon_33634	[The stramenopiles (Heterokonta) are one of the phylogenetic groups of eukaryotes and include organisms as diverse as unicellular and multicellular algae, fungus-like cells, and parasitic and free-living flagellates.]
obsolete hypotonia-speech impairment-severe cognitive delay syndrome	MONDO_0018297
Abnormal emotion/affect behavior	HP_0100851	[An abnormality of emotional behaviour.]
multicentric osteolysis-nodulosis-arthropathy spectrum	MONDO_0018298	[A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.]
primary osteolysis	MONDO_0019707
congenital disorder of glycosylation-related bone disorder	MONDO_0018292