Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete infantile neuroaxonal dystrophy	MONDO_0009739
galactosialidosis	MONDO_0009737	[A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.]
Netherton syndrome	MONDO_0009735	[Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.]
Brachydactyly - long thumb	Orphanet_2946	[Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.]
TARP syndrome	MONDO_0010711	[A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.]
congenital nephrotic syndrome, Finnish type	MONDO_0009732	[Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.]
properdin deficiency, X-linked	MONDO_0010713	[A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.]
nephrosis-deafness-urinary tract-digital malformations syndrome	MONDO_0009731	[Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.]
Saccharomyces boulardii	NCBITaxon_252598
X-linked lethal multiple pterygium syndrome	MONDO_0010716	[X-linked form of lethal multiple pterygium syndrome.]
absent radius-anogenital anomalies syndrome	MONDO_0010718	[Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.]
obsolete_porencephaly	Orphanet_2940
pyruvate dehydrogenase E1-alpha deficiency	MONDO_0010717	[Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.]
spastic paraparesis-deafness syndrome	MONDO_0010732	[Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits.]
Progéria - short stature - pigmented nevi	Orphanet_2959
obsolete Mood changes	HP_0001575
X-linked intellectual disability - dysmorphism - cerebral atrophy	Orphanet_2958
obsolete_Peters plus syndrome	Orphanet_709	[Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism.]
obsolete_Peters anomaly	Orphanet_708	[Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.]
obsolete_Pendred syndrome	Orphanet_705	[Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.]