Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
coxoauricular syndrome	MONDO_0007392	[Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.]
Primary intraosseous vascular malformation	Orphanet_140436
Chandler syndrome	MONDO_0020369	[Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy.]
obsolete_progressive cavitating leukoencephalopathy	Orphanet_139447
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	MONDO_0019375	[Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.]
Hypomyelination with atrophy of basal ganglia and cerebellum	Orphanet_139441
CAMOS syndrome	MONDO_0019374	[CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.]
obsolete_leukoencephalopathy with bilateral anterior temporal lobe cysts	Orphanet_139444
essential iris atrophy	MONDO_0020371	[Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease.]
Cogan-Reese syndrome	MONDO_0020370	[Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease.]
Microtia - eye coloboma - imperforation of the nasolacrimal duct	Orphanet_139450
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	MONDO_0044302
early-onset zonular cataract	MONDO_0020379
early-onset partial cataract	MONDO_0020377
early-onset posterior polar cataract	MONDO_0020378
cataract 16 multiple types	MONDO_0013411	[Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.]
hyperphenylalaninemia due to DNAJC12 deficiency	MONDO_0044304	[Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).]
TWIST1-related craniosynostosis	MONDO_0007399	[Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene.]
congenital heart defects and ectodermal dysplasia	MONDO_0044303
early-onset nuclear cataract	MONDO_0020376