Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
benign neoplasm of large intestine	MONDO_0021444	[A benign neoplasm that involves the large intestine.]
Argininemia	Orphanet_90	[Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.]
obsolete_congenital absence of both lower leg and foot, unilateral	Orphanet_295097
benign neoplasm of oral cavity	MONDO_0021445	[A benign neoplasm that involves the oral cavity.]
mouth neoplasm	EFO_0003868	[Tumors or cancer of the MOUTH., A neoplasm (disease) that involves the oral cavity.]
obsolete_aromatase deficiency	Orphanet_91
obsolete_congenital absence of both forearm and hand, bilateral	Orphanet_295095
Extrahepatic Bile Duct Adenosquamous Carcinoma	EFO_1000247	[A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components.]
adenosquamous bile duct carcinoma	MONDO_0003549	[An adenosquamous carcinoma that arises from the bile ducts.]
spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	MONDO_0008469	[Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.]
extrahepatic bile duct carcinoma	MONDO_0003090	[A carcinoma that arises from epithelial cells of the extrahepatic bile duct.]
squamous cell bile duct carcinoma	MONDO_0003500	[A squamous cell carcinoma that involves the bile duct.]
Epithelioid Malignant Peripheral Nerve Sheath Tumor	EFO_1000245	[A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.]
Czeizel-Losonci syndrome	MONDO_0008467	[Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.]
Ethmoid Sinus Adenoid Cystic Carcinoma	EFO_1000246	[An adenoid cystic carcinoma that affects the ethmoid sinus.]
ethmoid sinus cancer	MONDO_0001763	[A malignant neoplasm involving the ethmoid sinus.]
Karsch-Neugebauer syndrome	MONDO_0008466	[Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.]
obsolete_congenital absence of both lower leg and foot, bilateral	Orphanet_295099
Epidermal Inclusion Cyst	EFO_1000243	[Epidermal inclusion cyst (EIC), also known as sebaceous cyst and epidermoid cyst, is the most common cyst of the skin. It ranges in size from a few millimeters to a few centimeters and originates from the follicular infundibulum. Its contents are a cheesy, malodorous mixture of degraded lipid and keratin. It often ruptures, with associated pain and inflammation. (http://www.medicinenet.com/image-collection/epidermal_inclusion_cyst_eic_picture/picture.htm)]
Patterson-Stevenson-Fontaine syndrome	MONDO_0008465	[Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.]