Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
deep cell layer (gastrulation)	UBERON_2000711	[A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast. Kimmel et al, 1995.]
internal yolk syncytial layer	UBERON_2000712	[The portion of the YSL that lies deep to the blastoderm during epiboly. Kimmel et al, 1995.]
neuronal ceroid lipofuscinosis 7	MONDO_0012588	[Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.]
Pitt-Hopkins syndrome	MONDO_0012589	[Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.]
pulmonary alveolar proteinosis	MONDO_0001437	[A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever.]
quantitative and/or qualitative congenital phagocyte defect	MONDO_0015133
von Willebrand disease (hereditary or acquired)	MONDO_0024574	[Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.]
H1-hESC	EFO_0003042	[H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1]
obsolete_CHIME syndrome	Orphanet_3474	[Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.]
obsolete_esophageal epithelium	EFO_0003041
obsolete_Zimmermann-Laband syndrome	Orphanet_3473	[Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.]
NCI-H460	EFO_0003044
obsolete_Yunis-Varon syndrome	Orphanet_3472
NCI-H1299	EFO_0003043
obsolete_Young syndrome	Orphanet_3471
heart transplant rejection	EFO_0003046	[A body response in rejection to a heart transplant. Your immune system will see your donor heart as a foreign object that's not supposed to be in your body. Your immune system will try to attack your donor heart. Although all people who receive a heart transplant receive immunosuppressants — medications that reduce the activity of the immune system — nearly 25 percent of heart transplant recipients still have some signs of rejection during the first year after transplantation.]
H9	EFO_0003045	[This human ES cell line expresses cell surface markers specific to undifferentiated nonhuman primate ES and human EC cells: stage-specific embryonic antigen (SSEA)–3, SSEA-4, TRA-l-60, TRA-1- 81, and alkaline phosphatase. It has a normal 46, XX karyotype. Teratomas are formed upon cell injection into SCID mice. These teratomas include cells from all three germ layers. Isolation & Growth Conditions This cell line can be cultured using feeder cells or in a feeder-free protocol. When using feeder cells, human ESC culture medium should be compreised of Advanced DMEM/F12 supplemented with knockout serum replacement (20%), non-essential amino acids (1x), L-glutamine (1x), penicillin/streptomycin (1x), β-mercaptoethanol (1x) and FGF-2 (4 ng/ml). Maintain the human ESCs on Matrigel using hESC medium conditioned by mouse embryonic fibroblasts.]
HES2	EFO_0003048
obsolete_ilium	EFO_0003049	[The broad, dorsal, upper, and widest of the three principal bones composing either half of the pelvis.]
PSAT deficiency	MONDO_0012596	[Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.]