Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Gallbladder Biliary Intraepithelial Neoplasia	EFO_1000265	[A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity.]
gallbladder neoplasm	EFO_0004606	[A neoplasm (disease) that involves the gall bladder.]
Gallbladder Small Cell Neuroendocrine Carcinoma	EFO_1000266	[An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells.]
gallbladder neuroendocrine neoplasm	MONDO_0024502	[A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).]
steatocystoma multiplex-natal teeth syndrome	MONDO_0008486	[The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth.]
genetic sebaceous gland anomaly	MONDO_0021029	[An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome.]
Gallbladder Adenoma	EFO_1000263	[A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary.]
sebocystomatosis	MONDO_0008485	[Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.]
Gallbladder Adenosquamous Carcinoma	EFO_1000264	[A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.]
stapes ankylosis with broad thumbs and toes	MONDO_0008484	[Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.]
cryohydrocytosis	MONDO_0008494	[A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.]
hereditary stomatocytosis	MONDO_0020102
Congenital alpha2 antiplasmin deficiency	Orphanet_79
Rare hemorrhagic disorder due to a constitutional coagulation factors defect	Orphanet_68334
overhydrated hereditary stomatocytosis	MONDO_0008493	[Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.]
stiff skin syndrome	MONDO_0008492	[A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy.]
otospondylomegaepiphyseal dysplasia, autosomal dominant	MONDO_0008490	[A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.]
type 11 collagen-related bone disorder	MONDO_0800087
collagenopathy	MONDO_0004603
Lactobacillus mindensis	NCBITaxon_167481