Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
classic Hodgkin lymphoma	MONDO_0009348	[Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells.]
Human adenovirus 5	NCBITaxon_28285
hypogonadotropic hypogonadism 6 with or without anosmia	MONDO_0012988	[Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene.]
alpha-thalassemia-myelodysplastic syndrome	MONDO_0010328	[Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).]
histidinuria due to a renal tubular defect	MONDO_0009346
histidinemia	MONDO_0009345	[Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.]
inborn disorder of histidine metabolism	MONDO_0019228	[An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process.]
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	MONDO_0009344	[Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.]
Hirschsprung disease-hearing loss-polydactyly syndrome	MONDO_0009342	[An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.]
dicarboxylic aminoaciduria	MONDO_0009110	[Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.]
Teebi-Shaltout syndrome	MONDO_0010101	[Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.]
chromosome 3q29 microduplication syndrome	MONDO_0012761	[3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly.]
Tay-Sachs disease	MONDO_0010100	[GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.]
hereditary spastic paraplegia 37	MONDO_0012766	[Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.]
taurodontia-absent teeth-sparse hair syndrome	MONDO_0010102	[This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.]
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	MONDO_0010104	[Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.]
Xenopus laevis	NCBITaxon_8355
Impaired glucose tolerance	HP_0040270	[An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.]
obsolete_Filippi syndrome	Orphanet_3255
Zlotogora-Ogur syndrome	Orphanet_3253	[Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.]