Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
receptor tyrosine-protein kinase erbb-3 measurement	EFO_0020701	[The determination of the amount of receptor tyrosine-protein kinase erbb-3 in a sample]
EH	EFO_0007748	[Non-transformed BJ cells expressing hTERT and SV40 early region.]
receptor tyrosine-protein kinase erbb-4 measurement	EFO_0020702	[The determination of the amount of receptor tyrosine-protein kinase erbb-4 in a sample]
Bernard-Soulier syndrome	MONDO_0009276	[Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.]
spondyloepimetaphyseal dysplasia, Bieganski type	MONDO_0010275	[A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.]
gamma-glutamyl transpeptidase deficiency	MONDO_0009285	[Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.]
inborn disorder of the gamma-glutamyl cycle	MONDO_0019241
glutathione synthetase deficiency without 5-oxoprolinuria	MONDO_0009284
inherited glutathione synthetase deficiency	MONDO_0017909	[Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.]
syndromic X-linked intellectual disability Shashi type	MONDO_0010277	[X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.]
obsolete_microcephalic primordial dwarfism due to ZNF335 deficiency	Orphanet_329228
glutaric acidemia type 3	MONDO_0009283	[Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.]
terminal osseous dysplasia-pigmentary defects syndrome	MONDO_0010279	[Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.]
glutaryl-CoA dehydrogenase deficiency	MONDO_0009281	[Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.]
Christianson syndrome	MONDO_0010278	[Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.]
Intellectual disability - craniofacial dysmorphism - cryptorchidism	Orphanet_329224
Autosomal recessive cerebelloparenchymal disorder type 3	Orphanet_1170
syndromic X-linked intellectual disability 7	MONDO_0010270	[Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.]
obsolete_congenital unilateral hypoplasia of depressor anguli oris	Orphanet_1166
C57BL/6NJ	EFO_0007732	[This is an NIH subline of C57BL/6. It was separated from C57BL/6J in 1951. 5 SNP differences have been identified that distinguish C57BL/6J from C57BL/6ByJ and C57BL/6NJ. Both C57BL/6ByJ and C57BL/6NJ type as follows: 08-015199792-M (rs3709624) is C; 11-004367508-M (rs3659787) is A; 13-041017317-M (rs3722313) is C; 15-057561875-M (rs3702158) is G; 19-049914266-M (rs3724876) is T. C57BL/6J types as follows: 08-015199792-M is T; 11-004367508-M is G; 13-041017317-M is T; 15-057561875-M is A; 19-049914266-M is G (Petkov and Wiles 2005.) This strain does not have the deletion in the Nnt gene that has been found in the C57BL/6J strain (Stock No. 000664). C57BL/6NJ mice are homozygous for Cyfip2M1N, a spontaneous mutation in the cytoplasmic FMR1 interacting protein 2 that results in an amino acid substitution of phenylalanine for serine at position 968 (S968F). The mutation is found in all C57BL/6N substrains but is not present in the C57BL/6J strain or substrains. The mutation results in 45% lower acute response to cocaine as measured by locomotor hyperactivity.]