Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	Orphanet_404451
cavernous hemangiomas of face-supraumbilical midline raphe syndrome	MONDO_0007706
Heinz body anemia	MONDO_0007705
trigeminal nerve	UBERON_0001645	[Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw).]
heart-hand syndrome type 3	MONDO_0007702	[Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.]
Holt-Oram syndrome	MONDO_0007732	[Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.]
hawkinsinuria	MONDO_0007700	[Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.]
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder	Orphanet_404448
obsolete_neurometabolic disease	Orphanet_68385
vagal placode 4	UBERON_2001300
epibranchial placode	UBERON_0003078	[Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia.]
obsolete_tall stature-intellectual disability-facial dysmorphism syndrome	Orphanet_404443
obsolete_intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	Orphanet_404440
alpha thalassemia-intellectual disability syndrome type 1	MONDO_0007716	[Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.]
Bencze syndrome	MONDO_0007711	[Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.]
oculoauriculovertebral spectrum with radial defects	MONDO_0007712	[Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.]
obsolete_leukodystrophy	Orphanet_68356
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	Orphanet_404437
potassium chloride	CHEBI_32588
aflatoxin B1	CHEBI_2504	[An aflatoxin that has formula C17H12O6., This gene is involved in cell adhesion, differentiation, division and stress response.]