Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_hyperinsulinism due to UCP2 deficiency	Orphanet_276556
polymerase chain reaction	OBI_0000415	[PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified.]
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	MONDO_0017804	[Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures.]
intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	MONDO_0017805
obsolete_Von Willebrand disease type 3	Orphanet_166096
obsolete_childhood absence epilepsy	Orphanet_64280
van Maldergem syndrome	MONDO_0017813	[Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.]
acquired porencephaly	MONDO_0017815	[An instance of porencephaly that is acquired during the lifetime of the individual.]
Genetic disorder of sex development of gynecological interest	Orphanet_325665
primary systemic amyloidosis	MONDO_0017816	[Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement.]
variant ABeta2M amyloidosis	MONDO_0017810	[A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.]
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	MONDO_0017811
segmental progressive overgrowth syndrome with fibroadipose hyperplasia	MONDO_0017812
15q overgrowth syndrome	MONDO_0017806	[15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.]
duplication of the pituitary gland	MONDO_0017808
parkinsonism due to ATP13A2 deficiency	MONDO_0017809
Kufor-Rakeb syndrome	MONDO_0011706	[Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.]
obsolete_peripheral precocious puberty	Orphanet_178040
Neosartorya fischeri	NCBITaxon_36630
obsolete_multiple epiphyseal dysplasia, with miniepiphyses	Orphanet_166032