Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
anophthalmia-microphthalmia syndrome	MONDO_0020147
19p13.12 microdeletion syndrome	MONDO_0016765	[19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.]
partial deletion of the short arm of chromosome 19	MONDO_0016897
microcephaly-microcornea syndrome, Seemanova type	MONDO_0016760	[Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.]
obsolete_autosomal recessive cutis laxa type 2	Orphanet_90350
microcornea-corectopia-macular hypoplasia syndrome	MONDO_0016762	[Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.]
obsolete_DDOST-CDG	Orphanet_300536
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	MONDO_0014101	[Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.]
muscular dystrophy-dystroglycanopathy, type A	MONDO_0000171
folic acid metabolic process	GO_0046655	[The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines.]
vitamin metabolic process	GO_0006766	[The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems.]
obsolete_brittle cornea syndrome	Orphanet_90354
Miosis	HP_0000616	[Abnormal (non-physiological) constriction of the pupil.]
Abnormal pupillary function	HP_0007686	[A functional abnormality of the pupil.]
diabetes insipidus	MONDO_0004782	[A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related.]
Blindness	HP_0000618	[Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.]
Reduced visual acuity	HP_0007663
allergic asthma	MONDO_0004784	[A asthma with a basis in a pathological type I hypersensitivity reaction.]
Abnormal nasolacrimal system morphology	HP_0000614	[An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.]
multiple congenital anomalies due to 14q32.2 maternally expressed gene defect	MONDO_0016779	[Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.]