Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
honey-droplet corneal dystrophy	MONDO_0020363
inverse Marcus-Gunn phenomenon	MONDO_0020362	[Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported.]
jaw-winking syndrome	MONDO_0007946	[Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis.]
partial cryptophthalmia	MONDO_0020361
atrial septal defect 7	MONDO_0007173	[Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.]
Lown-Ganong-Levine syndrome	MONDO_0007174	[Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia).]
atrial septal defect 1	MONDO_0007172	[An atrial heart septal defect type 1 associated with variation in the region 5p.]
obsolete rare eye disease due to a differentiation anomaly	MONDO_0020149
obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	Orphanet_308698
androgen insensitivity syndrome	MONDO_0019154	[Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).]
angioosteohypotrophic syndrome	MONDO_0019156	[Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.]
oligocone trichromacy	MONDO_0019151	[Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision.]
familial isolated restrictive cardiomyopathy	MONDO_0019150	[Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.]
brain malformation-congenital heart disease-postaxial polydactyly syndrome	MONDO_0019153	[Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.]
obsolete_schizencephaly	Orphanet_799
Oguchi disease	MONDO_0019152	[Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.]
obsolete_Schinzel-Giedion syndrome	Orphanet_798	[Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphosis, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.]
obsolete_sarcoidosis	Orphanet_797
Ammon's horn	UBERON_0001954	[A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.]
obsolete_Sandhoff disease	Orphanet_796