ENTITY
stringlengths
8
8
DEFINITION
stringlengths
3
8.47k
ALIASES
stringlengths
2
13.6k
NAME
stringlengths
2
1.98k
C4321442
Human RHBDF2 wild-type allele is located in the vicinity of 17q25.3 and is approximately 31 kb in length. This allele, which encodes inactive rhomboid protein 2, is involved in the regulation of the secretion of various ligands of the epidermal growth factor receptor. Mutation of the gene is associated with tylosis with esophageal cancer.
Rhomboid 5 Homolog 2 (Drosophila) Gene|iRhom2|TEC|IRHOM2|RHBDL6|Tylosis With Esophageal Cancer Gene|TOC|RHBDL5|FLJ22341|TOCG|RHBDF2 wt Allele|Rhomboid, Veinlet-Like 6 (Drosophila) Gene|Rhomboid 5, Drosophila, Homolog of, 2 Gene|Rhomboid 5 Homolog 2 wt Allele
RHBDF2 wt Allele
C0324330
The Cavalier King Charles Spaniel is a small spaniel with dark, round eyes that are large but not prominent. The ears are long with abundant feathering, and it has a silky coat, sometimes with a slight waviness that comes in ruby, black and tan, tri-color and blenheim (chestnut on a pearly-white background). Height: 12-13 inches (30-33 cm.) Weight: 10-18 pounds (5-8 kg.)
Cavalier King Charles spaniel (organism)|King Charles Spaniel (Cavalier)|Cavalier King Charles spaniel|Cavalier King Charles Spaniel
Cavalier King Charles spaniel
C0324454
null
spaniel|spaniels|Spaniel, NOS|Spaniel (organism)
Spaniel
C0175171
Methods and techniques used in evaluating the quality of health care, its planning, and delivery.
Evaluation Mechanism, Healthcare|Healthcare Evaluation Mechanisms|Evaluation Mechanisms, Healthcare|Mechanism, Healthcare Evaluation|Mechanisms, Healthcare Evaluation|health care service evaluation|Healthcare Evaluation Mechanism
Health Care Evaluation Mechanisms
C3981777
null
null
Methyloprofundus
C4885032
null
null
Trabala vishnou nucleopolyhedrovirus
C0596036
traditional Chinese methods of acupuncture therapy for treating disease by inserting needles along specific pathways or meridians; acupressure uses the same pressure points as acupuncture, but is a type of massage in which finger pressure on specific body sites is used to promote healing, relieve fatigue, etc.
null
acupuncture/acupressure
C0012613
null
disadvantaged|underprivileged
Disadvantaged
C2717831
null
Chains, Dynein Light|Light Chains, Dynein
Dynein Light Chains
C1325554
A condensed form of chromatin, occurring in the nucleus during interphase, that stains strongly with basophilic dyes. The DNA of heterochromatin is typically replicated at a later stage in the cell-division cycle than euchromatin. [ISBN:0198506732]
nuclear heterochromatin
Nuclear heterochromatin
C1623303
Interacting selectively and non-covalently with insulin-like growth factor I. [GOC:mah]
IGF-I binding
insulin-like growth factor I binding
C4091582
null
null
Caryospora cheloniae
C1844698
null
Micrognathia, severe
Severe micrognathia
C1897645
null
Picobiliphytes
Picozoa
C0718841
null
Baza|baza
Baza
C1219435
null
Paraburkholderia kirkii|Candidatus Burkholderia kirkii|Burkholderia kirkii
Candidatus Paraburkholderia kirkii
C3662262
A pathological nonimmune process generally directed towards a foreign substance, which results in tissue injury, which is usually transient. It is the realization of the pseudoallergic disposition. A variety of mechanisms such as direct histamine release, complement activation, cyclooxygenase activation and bradykinin generation may be involved.
Pseudoallergic reaction (disorder)
Pseudoallergic reaction
C2806299
null
Mugil grandisquamis|large-scale mullet|Liza grandisquamis
Parachelon grandisquamis
C0321515
null
Aspiculuris tetraptera (organism)|Aspiculuris tetraptera
Aspiculuris tetraptera
C2772876
null
Pseudupeneus forsskali
Parupeneus forsskali
C3309987
null
Mulloides flavolineatus|Parupeneus flavolineatus|Mullus flavolineatus|Upeneus flavolineatus
Mulloidichthys flavolineatus
C1930560
null
null
Rhabdochona
C4023824
A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. [HPO:probinson]
Notched thighbone|Split thighbone
Bifid femur
C2062936
null
Pulmonary lipoma|Lipoma of lung (disorder)
Lipoma of lung
C1539463
null
FAMILY WITH SEQUENCE SIMILARITY 57, MEMBER A|FAM57A|CT120|FAM57A gene|family with sequence similarity 57 member A|FLJ22282
FAM57A gene
C3898645
An adenocarcinoma cell line established from a patient with colon carcinoma.
null
KM12
C1221360
null
Termitomyces letestui|Lepiota le-testui
Termitomyces le-testui
C0445749
A species of facultatively anaerobic, Gram-negative, rod shaped bacteria assigned to the phylum Proteobacteria. This species is catalase positive, reduces nitrate, fermentative, grows on MacConkey's agar, resistant to tetracycline, oxidase, indole, citrate, urease, gelatinase, lipase, esculin, and Voges-Proskauer test negative, does not produce hydrogen sulfide, but does produce a red to brown pigment, and has an almond smell on phenylalanine agar. P. heimbachae was isolated from penguin feces and causes diarrhea in humans.
PROVIDENCIA HEIMBACHAE|Providencia heimbachae (organism)|Providencia haimbachae|Providencia heimbachae
Providencia heimbachae
C0324430
The Golden Retriever is a sturdy, well-proportioned dog with a feathered, medium-length, cream to golden-colored coat. The outer coat is water-repellent and the undercoat is dense. The ears are medium-sized and pendant. Its neck and thighs are muscular and the chest is broad. Height: 20-24 inches (51-61cm.) Weight: 55-80 pounds (25-36 kg.)
Golden retriever|golden retriever|Golden retriever (organism)|Golden Retriever|golden retrievers
Golden retriever
C1485329
null
null
Crepidula gibbosa
C1485329
null
null
Crepidula gibbosa
C3553090
null
null
Abnormal sperm head (in some patients)
C1830398
null
null
Grooming:-:Point in time:^Patient:-
C0333302
An ulcer of the colon due to pressure and irritation from retained fecal masses. [ORCID:0000-0001-5208-3432, PMID:7065551]
Recto-sigmoid colon stercoral ulcer|Stercoraceous ulcer|Stercoral ulcer|Ulcer, stercoraceous|Stercoraceous ulcer (morphologic abnormality)
Stercoraceous ulcer
C0023177
Unstable isotopes of lead that decay or disintegrate emitting radiation. Pb atoms with atomic weights 194-203, 205, and 209-214 are radioactive lead isotopes.
Lead radioisotope (substance)|Radioisotopes, Lead|Lead radioisotope|Lead radioisotope, NOS
Lead Radioisotopes
C1270810
null
Phleum pratense specific immunoglobulin E (substance)|Phleum pratense specific immunoglobulin E|Timothy grass specific immunoglobulin E|Timothy grass specific IgE
Timothy grass specific IgE
C1533052
null
Monocyte finding (finding)
Monocyte finding
C1426074
null
FRAS1 gene|KIAA1500|FLJ22031|FLJ14927|FRAS1|FRAS1 GENE|Fraser extracellular matrix complex subunit 1
FRAS1 gene
C1426074
null
FRAS1 gene|KIAA1500|FLJ22031|FLJ14927|FRAS1|FRAS1 GENE|Fraser extracellular matrix complex subunit 1
FRAS1 gene
C2245214
A process in which force is generated within fast-twitch skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The fast-twitch skeletal muscle is characterized by fast time parameters, high force development and fatiguability. [GOC:ef, GOC:mah, GOC:mtg_muscle]
fast-twitch skeletal myofibre contraction|fast-twitch skeletal myofiber contraction|fast-twitch skeletal fibre contraction|fast-twitch skeletal muscle fibre contraction|fast-twitch skeletal fiber contraction
fast-twitch skeletal muscle fiber contraction
C4021160
Asymmetry of the posterior part of the skull. [DDD:awilkie, PMID:10876272]
Occipital plagiocephaly|Deformational posterior plagiocephaly
Posterior plagiocephaly
C2246674
A multimeric protein complex that acts as an endosomal tethering complex (CORVET = class C core vacuole/endosome tethering) by cooperating with Rab GTPases to capture endosomal vesicles and trap them prior to the action of SNAREs; the complex is involved in endo-lysosomal biogenesis and required for transport between endosome and vacuole. The Saccharomyces cerevisiae complex contains Vps8p, Vps3p, Pep5p, Vps16p, Pep3p, and Vps33p. [PMID:17488625]
CORVET complex location
CORVET complex
C4235327
A zone of apposition between the vacuolar membrane and the mitochondrial outer membrane, important for transfer of lipids between the two organelles. [PMID:25026035, PMID:25026036]
vCLAMP|vacuole and mitochondria patch
vacuole-mitochondrion membrane contact site
C1045621
null
null
Isoetes taiwanensis
C1284904
null
Entire coccygeal region (body structure)|Entire coccygeal region
Entire coccygeal region
C1284904
null
Entire coccygeal region (body structure)|Entire coccygeal region
Entire coccygeal region
C1152193
Catalysis of the reaction: CO(2) + diphosphate + nicotinate D-ribonucleotide = 5-phospho-alpha-D-ribose 1-diphosphate + 2 H(+) + quinolinate. [EC:2.4.2.19, RHEA:12733]
QAPRTase activity|quinolinic acid phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity|nicotinate mononucleotide pyrophosphorylase (carboxylating)|nicotinate-nucleotide pyrophosphorylase (carboxylating) activity|quinolinate phosphoribosyltransferase (decarboxylating) activity|nicotinate-nucleotide:diphosphate phospho-alpha-D-ribosyltransferase (carboxylating)|NAD pyrophosphorylase activity|quinolinic phosphoribosyltransferase activity
nicotinate-nucleotide pyrophosphorylase (carboxylating) activity
C0138726
null
PGF1alpha|PGF1 - Prostaglandin F1 alpha|Prostaglandin PGF1 alpha|Prostaglandin PGF1 alpha (substance)|PGF1 alpha|Prostaglandin F1 alpha|prostaglandin F1alpha|Prostaglandin F<sub>1</sub> alpha|Prostaglandin F>1< alpha
Prostaglandin F>1< alpha
C0166049
Antibodies to the HEPATITIS C ANTIGENS including antibodies to envelope, core, and non-structural proteins.
HCV Antibody|Anti Hepatitis C Virus Antibodies|Hepatitis C Antibodies|Anti-HCV Antibody|Anti-HCV Antibodies|hepatitis c antibodies|Hepatitis C Virus Antibodies|Antibody to hepatitis C virus (substance)|Antibody to hepatitis C virus|Hepatitis C virus antibody|Anti HCV Antibodies|Anti-Hepatitis C Antibody|anti hcv antibody|antibodies hepatitis c|antibody hcv|Hepatitis C antibody|Anti-Hepatitis C Virus Antibodies|hcv anti|antibodies c hepatitis|Antibody to hepatitis C|Hepatitis C Antibody|Anti HCV|HCV Antibodies|anti hcv|hepatitis c antibody
Hepatitis C Antibodies
C0475322
null
Computerized tomography guidance (procedure)|CT - Computerized tomography guidance|CT - Computerised tomography guidance|Computerised tomography guidance
Computerized tomography guidance
C1336089
Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)
Stage 0 Transitional Cell Carcinoma of the Bladder|Stage 0 Urinary Bladder Transitional Cell Carcinoma|Stage 0 Bladder Urothelial Cancer|Stage 0 Bladder Urothelial Carcinoma|Stage 0 Transitional Cell Carcinoma of Bladder|Non-Invasive Bladder Urothelial Carcinoma|Stage 0 Bladder Urothelial Carcinoma AJCC v7|Stage 0 Transitional Cell Carcinoma of Urinary Bladder|Stage 0 Transitional Cell Carcinoma of the Urinary Bladder
Stage 0 Bladder Urothelial Carcinoma AJCC v6 and v7
C3540595
Human CD8A wild-type allele is located in the vicinity of 2p11.2 and is approximately 24 kb in length. This allele, which encodes T-cell surface glycoprotein CD8 alpha chain protein, plays a role in antigen recognition by T-cells.
CD8A wt Allele|Leu2|CD8a Molecule wt Allele|p32|CD8|MAL
CD8A wt Allele
C1335493
A T-cell non-Hodgkin lymphoma that arises from the breast as a primary tumor. Primary T-cell non-Hodgkin lymphomas of the breast are rare.
Breast T-Cell Non-Hodgkin's Lymphoma|T-Cell Non-Hodgkin's Lymphoma of the Breast|Primary T-Cell Breast Lymphoma|Primary T-Cell Lymphoma of the Breast|Primary T-Cell Lymphoma of Breast
Breast T-Cell Non-Hodgkin Lymphoma
C1418939
null
cancer/testis antigen family 94, member 1|PRM1|PRM1 gene|CT94.1|SPERM PROTAMINE P1|protamine 1
PRM1 gene
C1418939
null
cancer/testis antigen family 94, member 1|PRM1|PRM1 gene|CT94.1|SPERM PROTAMINE P1|protamine 1
PRM1 gene
C1412538
null
ARL3|ARL3 gene|ADP ribosylation factor like GTPase 3|ADP-RIBOSYLATION FACTOR-LIKE 3|ARFL3
ARL3 gene
C1412538
null
ARL3|ARL3 gene|ADP ribosylation factor like GTPase 3|ADP-RIBOSYLATION FACTOR-LIKE 3|ARFL3
ARL3 gene
C1902797
null
null
Physaleae
C0037493
null
Chenodeoxycholic Acid, Sodium Salt|Sodium Chenodeoxycholate|SODIUM CHENODEOXYCHOLATE|Chenodeoxycholate, Sodium
Sodium Chenodeoxycholate
C0911143
null
null
IPEA
C1721086
Devices used to hold tissue structures together for repair, reconstruction or to close wounds. They may consist of adsorbable or non-adsorbable, natural or synthetic materials. They include tissue adhesives, skin tape, sutures, buttons, staples, clips, screws, etc., each designed to conform to various tissue geometries.
Fastener, Surgical|Fasteners, Surgical|Fixation Device, Surgical|Surgical Fasteners|Surgical Fixation Device|Devices, Surgical Fixation|Surgical Fastener|Device, Surgical Fixation|Fixation Devices, Surgical
Surgical Fixation Devices
C0575167
null
deformities neck|neck deformity|Deformity of the neck|Observation of deformity of neck|Deformity of neck (finding)
Deformity of neck
C0084866
null
3-hydroxy-24-nor-2-oxo-1(10),3,5,7-friedelatetraen-29-oic acid|celastrol
tripterine
C0948945
null
ultrasound carotid artery|arteries carotid ultrasound|artery carotid ultrasound
carotid artery ultrasound
C3489400
null
null
L-methyl-selenocysteine
C2714830
null
null
vinyl decanoate
C0516868
null
normal heart size|heart normal size
heart size normal
C0702139
Complete absence of any auricular structures. [HPO:probinson, PMID:19125421]
Anotias|Congenital absence of external ear|Anotia|Absence of ear auricle|anotia|Congenital absence of pinna, NOS|Absence of external ear|Absence of auricle|Congenital absence of pinna|Congenital absence of external ear (disorder)|Congenital absence of ear auricle|Congenital absence of auricle|Agenesis of external ear|Congenital absence of auricle, NOS
Congenital absence of external ear
C3280104
null
null
Swollen podocytes
C1479133
null
null
Phomopsis loropetali
C1479133
null
null
Phomopsis loropetali
C0796274
An autosomal recessive neurologic condition caused by mutation(s) in the SLC52A3 gene, encoding solute carrier family 52, riboflavin transporter, member 3. It is characterized by sensorineural hearing loss and varying cranial nerve palsies, usually affecting the motor components of the seventh and ninth to twelfth cranial nerves. Spinal motor nerves are often affected. Mutations in SLC52A3 may result in Faxio-Lone disease, which is a similar condition, but sensorineural deafness is not present.
Bulbar Palsy, Progressive, With Sensorineural Deafness|BVVLS1|PONTOBULBAR PALSY WITH DEAFNESS|Pontobulbar palsy and neurosensory deafness|Brown-Vialetto-Van Laere syndrome|Bulbar Palsy, Progressive, with Sensorineural Deafness|Progressive Bulbar Palsy with Sensorineural Deafness|BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS|Pontobulbar Palsy With Deafness|Brown-Vialetto-Van Laere Syndrome 1|BROWN-VIALETTO-VAN LAERE SYNDROME 1
Brown-Vialetto-Van Laere Syndrome 1
C3553288
null
HKPX3
HYPEREKPLEXIA 3
C0393760
Difficulty falling asleep.
Initial Insomnia|Cannot get off to sleep|Insomnia, vesperal|trouble falling asleep|Initial insomnia|Initial insomnia (disorder)|Difficulty getting to sleep|Difficulty in sleep initiation|Difficulty falling asleep|Vesperal insomnia|initial insomnia
Initial insomnia
C2991993
null
null
Pheidole knowlesi
C3659266
null
Elobixibat
elobixibat
C0324420
The Miniature Poodle is a medium-sized poodle with a height of 11-15 inches and weighing 15-17 pounds.
Poodle (Miniature)|Miniature poodle|Miniature Poodle|Miniature poodle (organism)
Miniature poodle
C4279719
null
null
SZC015
C4309411
null
null
SZC017
C4310284
null
null
SZC014
C1013773
null
null
Thysanoessa
C1646974
null
null
Hyas
C1510492
A specific genus in the family Paguridae, infraorder ANOMURA. It is commonly known as the hermit crab and is characterized by its use of the shells of other gastropods for housing its abdomen.
Pagurus|Hermit Crab
Pagurus
C0324046
null
Aberdeen Angus cattle breed|Angus cattle breed|Angus Cattle|Aberdeen Angus cow|Aberdeen Angus cattle breed (organism)
Aberdeen Angus cattle
C1611088
null
calcium cyanamide|Calcium Cyanamide|Calcium cyanamide (substance)|Calcium Carbimide|Cyanamide, Calcium|Calcium cyanamide|Lime-nitrogen|Cyanamide calcique|Lime nitrogen|carbimida calcica|Nitrogen lime|Carbimide, Calcium|calcium carbimide|carbimide calcique|Cyanamide, Calcium Salt|Calcium Salt Cyanamide|Calcium carbimide
calcium carbimide
C4082588
Galanin receptor type 2 (387 aa, ~42 kDa) is encoded by the human GALR2 gene. This protein is involved in G protein-coupled receptor signaling.
Galanin Receptor 2|GALR2|Galanin Receptor Type 2|GALR2 Protein
Galanin Receptor Type 2, human
C2246659
Catalysis of the reaction: a penicillin + H2O = a substituted beta-amino acid derivative of the penicillin. [GOC:mlg]
null
penicillinase activity
C1158211
The chemical reactions and pathways involving nicotinamide riboside, the product of the formation of a glycosidic bond between ribose and nicotinamide. [CHEBI:15927, ISBN:0198506732]
N-ribosylnicotinamide metabolic process|nicotinamide riboside metabolism
nicotinamide riboside metabolic process
C3899994
Ovarian transplantation using autologous tissue. The goal of this procedure is to restore both endocrine function and reproductive function.
Autologous Ovarian Tissue Transplantation|autologous ovarian tissue transplantation
Autologous Ovarian Tissue Transplantation
C0251153
null
Relps
Re lipopolysaccharide
C1704154
null
null
Glucosamine / methylsulfonylmethane Oral Solution
C1704154
null
null
Glucosamine / methylsulfonylmethane Oral Solution
C3662476
null
Gametocyte of Plasmodium vivax|Gametocyte of Plasmodium vivax (organism)
Plasmodium vivax gametocyte
C4235294
The multiplication or reproduction of acinar cells, resulting in the expansion of a cell population. An acinar cell is a secretory cell that is grouped together with other cells of the same type to form grape-shaped clusters known as acini (singular acinus). [PMID:9788538]
acinous cell proliferation|acinic cell proliferation
acinar cell proliferation
C1720929
null
Mitochondrial Volumes|Volumes, Mitochondria|Mitochondria Volume|Volume, Mitochondrial|Volume, Mitochondria|Mitochondria Volumes|Volumes, Mitochondrial
Mitochondrial Volume
C1414007
null
DFNA7|deafness, autosomal dominant 7|DFNA7 gene
DFNA7 gene
C1414007
null
DFNA7|deafness, autosomal dominant 7|DFNA7 gene
DFNA7 gene
C0376208
null
D-serine dehydrase|D-serine dehydratase|D-hydroxy amino acid dehydratase|D-serine ammonia-lyase|D-serine hydro-lyase (deaminating)|D-serine deaminase|D-Hydroxyaminoacid dehydratase|D-serine ammonia-lyase (substance)|D-Serine dehydratase
D-Serine dehydratase
C1004067
null
null
nasuta subgroup
C0402161
null
Mechanical engineer - design (occupation)
Mechanical engineer - design