Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
nephronophthisis 1	MONDO_0009728	[Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.]
atelosteogenesis type II	MONDO_0009727	[Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.]
proteosome-associated autoinflammatory syndrome	MONDO_0009726
nail-patella-like renal disease	MONDO_0009724	[A severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.]
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	Orphanet_93114
obsolete_crossed polysyndactyly	Orphanet_2935
Bailey-Bloch congenital myopathy	MONDO_0009722	[Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.]
Polysyndactyly - cardiac malformation	Orphanet_2934
Nathalie syndrome	MONDO_0009721	[Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.]
orofaciodigital syndrome I	MONDO_0010702	[Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.]
Keipert syndrome	MONDO_0009720	[A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.]
Decreased fetal movement	HP_0001558	[An abnormal reduction in quantity or strength of fetal movements.]
otopalatodigital syndrome type 1	MONDO_0010704	[The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.]
obsolete_Cronkhite-Canada syndrome	Orphanet_2930
occipital lateral line neuromast	UBERON_2001025	[A neuromast that is part of the occipital lateral line.]
supraorbital lateral line neuromast	UBERON_2001026	[A neuromast that is part of the supraorbital lateral line.]
Polyhydramnios	HP_0001561	[The presence of excess amniotic fluid in the uterus during pregnancy.]
Ocular melanocytosis	HP_0025534	[A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.]
partial androgen insensitivity syndrome	MONDO_0010720	[Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.]
Triphalangeal thumbs - brachyectrodactyly	Orphanet_2947