Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Autosomal recessive spastic paraplegia type 26	Orphanet_101006
GM17290	CLO_0013140	[HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 200 HUMAN VARIATION PANEL - CAUCASIAN PANEL OF 100 (SET 1)]
obsolete_annular pancreas	Orphanet_675
Autosomal recessive spastic paraplegia type 27	Orphanet_101007
obsolete_accessory pancreas	Orphanet_674
Autosomal recessive spastic paraplegia type 24	Orphanet_101004
Autosomal recessive spastic paraplegia type 25	Orphanet_101005
obsolete_Pallister-Hall syndrome	Orphanet_672	[Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.]
Autosomal recessive spastic paraplegia type 23	Orphanet_101003
acropectorovertebral dysplasia	MONDO_0007058	[Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).]
obsolete_Autosomal recessive spastic paraplegia type 20	Orphanet_101000
acrorenal syndrome	MONDO_0007059	[Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.]
obsolete_Autosomal recessive spastic paraplegia type 21	Orphanet_101001
acroosteolysis	MONDO_0007056	[A condition that is characterized by degeneration of the distal phalanges.]
hearing loss, mixed conductive-sensorineural	MONDO_0044001	[Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.]
acroosteolysis dominant type	MONDO_0007057	[Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.]
acromicric dysplasia	MONDO_0007055	[Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.]
extra or missing processual parts	PATO_0001564	[A quality of a process inhering in a bearer by virtue of the bearer's processual parts.]
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	MONDO_0007064	[A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.]
having extra processual parts	PATO_0001561	[A quality of a process inhering in a bearer by virtue of the bearer's having additional processual parts.]