Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
immunodeficiency-centromeric instability-facial anomalies syndrome	MONDO_0000133	[The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.]
obsolete_typical nemaline myopathy	Orphanet_171436
obsolete_Trichophyton megninii	NCBITaxon_63416
Trichophyton verrucosum	NCBITaxon_63417
obsolete_childhood-onset nemaline myopathy	Orphanet_171439
leukoencephalopathy, megalencephalic	MONDO_0000137
keratosis follicularis spinulosa decalvans	MONDO_0000136	[Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.]
obsolete_neurodegenerative syndrome due to cerebral folate transport deficiency	Orphanet_217382
spondyloepimetaphyseal dysplasia, matrilin-3 type	MONDO_0012108	[Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.]
obsolete_Pyruvate carboxylase deficiency	Orphanet_3008	[Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.]
17p13.3 microduplication syndrome	Orphanet_217385	[17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.]
obsolete_pyridoxine-dependent epilepsy	Orphanet_3006
obsolete_Pyle disease	Orphanet_3005
iodoform	CHEBI_37758
sudden infant death-dysgenesis of the testes syndrome	MONDO_0012124	[Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.]
hypomyelinating leukodystrophy 2	MONDO_0012125	[Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.]
Pelizaeus-Merzbacher-like disease	MONDO_0017226	[Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).]
congenital disorder of glycosylation type 1E	MONDO_0012123	[The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.]
CCDC115-CDG	MONDO_0014789
familial avascular necrosis of femoral head	MONDO_0012126	[Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.]