Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
childhood onset GLUT1 deficiency syndrome 2	MONDO_0012805	[A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.]
ectodermal dysplasia and immunodeficiency 2	MONDO_0012806
N-acetyl histidine	CHEBI_86910
Sudanophilic leukodystrophy	HP_0003269
obsolete congenital abnormality	MONDO_0000839	[OBSOLETE. Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period.]
Ambystoma mexicanum	NCBITaxon_8296
obsolete_ATTRV122I amyloidosis	Orphanet_85451
Familial renal amyloidosis	Orphanet_85450
X-linked reticulate pigmentary disorder with systemic manifestations	Orphanet_85453	[X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.]
Coats plus syndrome	MONDO_0012815	[Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.]
Abnormality on pulmonary function testing	HP_0030878	[Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.]
Crouzon syndrome-acanthosis nigricans syndrome	MONDO_0012833	[Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN).]
chromosome 10q23 deletion syndrome	MONDO_0012830	[10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.]
cellular component organization	GO_0016043
Familial amyloidosis, Finnish type	Orphanet_85448
Hypoplastic acetabulae	HP_0003274	[Underdeveloped acetabulae.]
obsolete_Familial amyloid polyneuropathy	Orphanet_85447
fibrous dysplasia	MONDO_0000845	[A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.]
Abdominal distention	HP_0003270	[Distention of the abdomen.]
Abdominal symptom	HP_0011458	[A subjective manifestation of disease localized to the abdomen.]