pontocerebellar hypoplasia

description: Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern.


name: ACADV_HUMAN Very long-chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)

description: A very long-chain specific acyl-CoA dehydrogenase, mitochondrial that is encoded in the genome of human.


loose anagen syndrome

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma.


name: autosomal dominant cerebellar ataxia type II

description: An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.


heavy chain deposition disease

description: A subtype of monoclonal immunoglobulin deposition disease in which heavy chain deposition results in non-amyloid tissue deposits which may cause organ dysfunction.


name: SGSM1_HUMAN Small G protein signaling modulator 1 (sprot)

description: A small G protein signaling modulator 1 that is encoded in the genome of human.


Granulocytic hyperplasia

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


name: MSPD1_HUMAN Motile sperm domain-containing protein 1 (sprot)

description: A motile sperm domain-containing protein 1 that is encoded in the genome of human.


Guanidine carrying a phenyl substituent on each of the two amino groups. It is used as an accelerator in the rubber industry.


Medial degeneration

description: Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.


name: SARAF_HUMAN Store-operated calcium entry-associated regulatory factor (sprot)

description: A store-operated calcium entry-associated regulatory factor that is encoded in the genome of human.


Abnormal foot morphology

description: An abnormality of the skeleton of foot.


name: ZNHI1_HUMAN Zinc finger HIT domain-containing protein 1 (sprot)

description: A zinc finger HIT domain-containing protein 1 that is encoded in the genome of human.


METHYL BENZOATE

A benzoate ester obtained by condensation of benzoic acid and methanol.


name: UBA5_HUMAN Ubiquitin-like modifier-activating enzyme 5 (sprot)

description: A ubiquitin-like modifier-activating enzyme 5 that is encoded in the genome of human.


name: progressive myoclonic epilepsy with dystonia

description: A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.


CRYPTOPLEURINE

An organic heteropentacyclic compound that is (14aR)-11,12,13,14,14a,15-hexahydro-9H-dibenzo[f,h]pyrido[1,2-b]isoquinoline substituted at positions 2, 3 and 6 by methoxy groups.


Sclerotic vertebral endplates

description: Sclerosis (increased density) affecting vertebral end plates.


urethra neoplasm

description: A neoplasm (disease) that involves the urethra.


name: C102B_HUMAN Coiled-coil domain-containing protein 102B (sprot)

description: A coiled-coil domain-containing protein 102B that is encoded in the genome of human.


(CHLOROMETHYL)BENZENE

A member of the class of  benzyl chlorides that is toluene substituted on the alpha-carbon with chlorine.


insulin-resistance syndrome type A

description: Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.


A tertiary carboxamide that is piperazine in which one of the amino groups has undergone condensation with the carboxy group of N-[(2,4-dichlorophenyl)sulfonyl]-L-serine, while the other has undergone condensation with the carboxy group of N-(1-benzothiophen-2-ylcarbonyl)-L-leucine. It is a cell-permeable, potent and selective agonist of the TRPV4 (transient receptor potential vanilloid 4) channel.


name: HBAZ_HUMAN Hemoglobin subunit zeta (sprot)

description: A hemoglobin subunit zeta that is encoded in the genome of human.


name: EH1L1_HUMAN EH domain-binding protein 1-like protein 1 (sprot)

description: An EH domain-binding protein 1-like protein 1 that is encoded in the genome of human.


IPO5_HUMAN Importin-5 (sprot)

An importin-5 that is encoded in the genome of human.


name: RIOX2_HUMAN Ribosomal oxygenase 2 (sprot)

description: A ribosomal oxygenase 2 that is encoded in the genome of human.


Neoplasm of the nose

description: Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.


name: AKA11_HUMAN A-kinase anchor protein 11 (sprot)

description: An A-kinase anchor protein 11 that is encoded in the genome of human.


name: GHDC_HUMAN GH3 domain-containing protein (sprot)

description: A GH3 domain-containing protein that is encoded in the genome of human.


benign neoplasm of brain

description: A benign neoplasm that involves the brain.


sigmoid neoplasm

description: Tumors or cancer of the sigmoid colon.


hand-Schuller-Christian disease

description: A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.


name: DIPHOSPHOMETHYLPHOSPHONIC ACID ADENOSYL ESTER


CRBB2_HUMAN Beta-crystallin B2 (sprot)

A beta-crystallin B2 that is encoded in the genome of human.


name: CYAC3_HUMAN Lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 (sprot)

description: A lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 that is encoded in the genome of human.


name: PRLD2_HUMAN PRELI domain-containing protein 2 (sprot)

description: A PRELI domain-containing protein 2 that is encoded in the genome of human.


ENDOV_HUMAN Endonuclease V (sprot)

An endonuclease V that is encoded in the genome of human.


SEM4B_HUMAN Semaphorin-4B (sprot)

A semaphorin-4B that is encoded in the genome of human.


name: ABCF2_HUMAN ATP-binding cassette sub-family F member 2 (sprot)

description: An ATP-binding cassette sub-family F member 2 that is encoded in the genome of human.


mucopolysaccharidosis type 3B

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.


name: T106A_HUMAN Transmembrane protein 106A (sprot)

description: A transmembrane protein 106A that is encoded in the genome of human.


DCTN5_HUMAN Dynactin subunit 5 (sprot)

A dynactin subunit 5 that is encoded in the genome of human.


esculetin

A  hydroxycoumarin that is umbelliferone in which the hydrogen at position 6 is substituted by a hydroxy group. It is used in filters for absorption of ultraviolet light.


ovarian cystadenoma

description: A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells.


name: SPR2D_HUMAN Small proline-rich protein 2D (sprot)

description: A small proline-rich protein 2D that is encoded in the genome of human.


Acute rhabdomyolysis

description: An acute form of rhabdomyolysis.


giant cell tumor of soft tissue

description: A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes.


CLGN_HUMAN Calmegin (sprot)

A calmegin that is encoded in the genome of human.


name: DCST2_HUMAN DC-STAMP domain-containing protein 2 (sprot)

description: A DC-STAMP domain-containing protein 2 that is encoded in the genome of human.


Muscle stiffness

description: A condition in which muscles cannot be moved quickly without accompanying pain or spasm.


description: Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.


Breast hypoplasia

description: Underdevelopment of the breast.


name: GEMI7_HUMAN Gem-associated protein 7 (sprot)

description: A gem-associated protein 7 that is encoded in the genome of human.


calcium glucoheptonate

The calcium salt of (2xi)-D-gluco-heptonic acid. It is used as a calcium supplement for treatment of hypocalcaemia.


ATOMOXETINE HYDROCHLORIDE

The hydrochloride salt of atomoxetine.


name: CO5A3_HUMAN Collagen alpha-3(V) chain (sprot)

description: A collagen alpha-3(V) chain that is encoded in the genome of human.


name: PSF3_HUMAN DNA replication complex GINS protein PSF3 (sprot)

description: A DNA replication complex GINS protein PSF3 that is encoded in the genome of human.


name: ACBD4_HUMAN Acyl-CoA-binding domain-containing protein 4 (sprot)

description: An acyl-CoA-binding domain-containing protein 4 that is encoded in the genome of human.


name: S12A8_HUMAN Solute carrier family 12 member 8 (sprot)

description: A solute carrier family 12 member 8 that is encoded in the genome of human.


name: TIFAB_HUMAN TRAF-interacting protein with FHA domain-containing protein B (sprot)

description: A TRAF-interacting protein with FHA domain-containing protein B that is encoded in the genome of human.


ENSA_HUMAN Alpha-endosulfine (sprot)

An alpha-endosulfine that is encoded in the genome of human.


fetal hydantoin syndrome

description: Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.


cinalukast

2,2-Diethylsuccinanilic acid substituted at a meta- position by an (E)-2-(4-cyclobutyl-1,3-thiazol-2-yl)ethenyl group. It selectively antagonizes leukotriene D4 at the cysteinyl leukotriene receptor, in the human airway, preventing airway edema, smooth muscle contraction, and enhanced secretion of thick, viscous mucus. It is used in the treatment of asthma.


name: KCD17_HUMAN BTB/POZ domain-containing protein KCTD17 (sprot)

description: A BTB/POZ domain-containing protein KCTD17 that is encoded in the genome of human.


name: NPT4_HUMAN Sodium-dependent phosphate transport protein 4 (sprot)

description: A sodium-dependent phosphate transport protein 4 that is encoded in the genome of human.


LSS_HUMAN Lanosterol synthase (sprot)

A lanosterol synthase that is encoded in the genome of human.


name: PBX4_HUMAN Pre-B-cell leukemia transcription factor 4 (sprot)

description: A pre-B-cell leukemia transcription factor 4 that is encoded in the genome of human.


CYANIDE

A one-carbon compound consisting of a methine group triple bonded to a nitrogen atom


CANALINE

A non-proteinogenic L-alpha-amino acid that is L-homoserine in which the hydroxy group at position 4 is substituted by an aminooxy group. It has been isolated from legumes and plays an essential role in lugume chemical defense against insects.


H2AZ_HUMAN Histone H2A.Z (sprot)

A histone H2A.Z that is encoded in the genome of human.


description: A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.


name: HEM4_HUMAN Uroporphyrinogen-III synthase (sprot)

description: A uroporphyrinogen-III synthase that is encoded in the genome of human.


name: RNPC3_HUMAN RNA-binding region-containing protein 3 (sprot)

description: An RNA-binding region-containing protein 3 that is encoded in the genome of human.


name: FXL19_HUMAN F-box/LRR-repeat protein 19 (sprot)

description: An F-box/LRR-repeat protein 19 that is encoded in the genome of human.


An arsenite ion resulting from the removal of all three protons from the hydroxy groups of arsenous acid.


name: TMC4_HUMAN Transmembrane channel-like protein 4 (sprot)

description: A transmembrane channel-like protein 4 that is encoded in the genome of human.


Axial myopia

description: A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.


name: PCDGC_HUMAN Protocadherin gamma-A12 (sprot)

description: A protocadherin gamma-A12 that is encoded in the genome of human.


anosognosia

description: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.


name: EPT1_HUMAN Ethanolaminephosphotransferase 1 (sprot)

description: An ethanolaminephosphotransferase 1 that is encoded in the genome of human.


name: MAGD4_HUMAN Melanoma-associated antigen D4 (sprot)

description: A melanoma-associated antigen D4 that is encoded in the genome of human.


obesity-hypoventilation syndrome

description: Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.


carumonam

An N-sulfonated monobactam antibiotic.


name: ENTP5_HUMAN Nucleoside diphosphate phosphatase ENTPD5 (sprot)

description: A nucleoside diphosphate phosphatase ENTPD5 that is encoded in the genome of human.


name: ADNP2_HUMAN Activity-dependent neuroprotector homeobox protein 2 (sprot)

description: An activity-dependent neuroprotector homeobox protein 2 that is encoded in the genome of human.


NSF_HUMAN Vesicle-fusing ATPase (sprot)

A vesicle-fusing ATPase that is encoded in the genome of human.


A member of the class of  phenols carrying an ethyl substituent at position 4.


name: Charcot-Marie-Tooth disease, axonal, type 2FF


name: NIPS2_HUMAN Protein NipSnap homolog 2 (sprot)

description: A protein NipSnap homolog 2 that is encoded in the genome of human.


ovarian cystadenocarcinoma

description: An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.


Palatal edema

description: Swelling related to fluid accumulation within the palate.


name: BAGE1_HUMAN B melanoma antigen 1 (sprot)

description: A B melanoma antigen 1 that is encoded in the genome of human.


name: NKX62_HUMAN Homeobox protein Nkx-6.2 (sprot)

description: A homeobox protein Nkx-6.2 that is encoded in the genome of human.


name: ALG8_HUMAN Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (sprot)

description: A probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase that is encoded in the genome of human.


vaginal discharge

description: Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.


sagittal sinus thrombosis

description: Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma.


inflammatory bowel disease 1

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.


name: TMM95_HUMAN Sperm-egg fusion protein TMEM95 (sprot)

description: A sperm-egg fusion protein TMEM95 that is encoded in the genome of human.


stiff skin syndrome

description: 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.


name: ACM5_HUMAN Muscarinic acetylcholine receptor M5 (sprot)

description: A muscarinic acetylcholine receptor M5 that is encoded in the genome of human.


name: SO3A1_HUMAN Solute carrier organic anion transporter family member 3A1 (sprot)

description: A solute carrier organic anion transporter family member 3A1 that is encoded in the genome of human.


NUPR2_HUMAN Nuclear protein 2 (sprot)

A nuclear protein 2 that is encoded in the genome of human.


name: VGF_HUMAN Neurosecretory protein VGF (sprot)

description: A neurosecretory protein VGF that is encoded in the genome of human.


name: FIBIN_HUMAN Fin bud initiation factor homolog (sprot)

description: A fin bud initiation factor that is encoded in the genome of human.


inherited ichthyosis

description: Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome.


alcohol-related birth defect

description: A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.


ovary leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.


nominal aphasia

description: Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.


METOCLOPRAMIDE HYDROCHLORIDE

A hydrate that is the monohydrate form of metoclopramide monohydrochloride.


name: RT05_HUMAN Small ribosomal subunit protein uS5m (sprot)

description: A small ribosomal subunit protein uS5m that is encoded in the genome of human.


NSF1C_HUMAN NSFL1 cofactor p47 (sprot)

An NSFL1 cofactor p47 that is encoded in the genome of human.


graphene

A single carbon layer of the graphite structure, describing its nature by analogy to a polycyclic aromatic hydrocarbon of quasi infinite size.


name: IYD1_HUMAN Iodotyrosine deiodinase 1 (sprot)

description: An iodotyrosine deiodinase 1 that is encoded in the genome of human.


name: EHD4_HUMAN EH domain-containing protein 4 (sprot)

description: An EH domain-containing protein 4 that is encoded in the genome of human.


(R)-warfarin

A 4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one that has (R)-configuration (the racemate is warfarin, an anticoagulant drug and rodenticide).


name: GNRR2_HUMAN Putative gonadotropin-releasing hormone II receptor (sprot)

description: A putative gonadotropin-releasing hormone II receptor that is encoded in the genome of human.


ulnar neuropathy

description: Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)


name: WDR7_HUMAN WD repeat-containing protein 7 (sprot)

description: A WD repeat-containing protein 7 that is encoded in the genome of human.


essential tremor

description: A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10)


name: BAP18_HUMAN Chromatin complexes subunit BAP18 (sprot)

description: A protein that is a translation product of the BAP18 gene in human.


adenosine kinase deficiency

description: A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.


name: NDUF7_HUMAN Protein arginine methyltransferase NDUFAF7, mitochondrial (sprot)

description: A protein arginine methyltransferase NDUFAF7, mitochondrial that is encoded in the genome of human.


A hydroxyether that is ethanol substituted by a methoxy group at position 2.


name: KCRU_HUMAN Creatine kinase U-type, mitochondrial (sprot)

description: A creatine kinase U-type, mitochondrial that is encoded in the genome of human.


name: LIN37_HUMAN Protein lin-37 homolog (sprot)

description: A protein lin-37 that is encoded in the genome of human.


BETULIN

A pentacyclic triterpenoid that is lupane having a double bond at position 20(29) as well as 3beta-hydroxy and 28-hydroxymethyl substituents.


primary hypertrophic osteoarthropathy

description: A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy.


SPF45_HUMAN Splicing factor 45 (sprot)

A splicing factor 45 that is encoded in the genome of human.


name: MRCKB_HUMAN Serine/threonine-protein kinase MRCK beta (sprot)

description: A serine/threonine-protein kinase MRCK beta that is encoded in the genome of human.


nitenpyram

A nitenpyram in which the double bond has E configuration.


barbiturate

Conjugate base of barbituric acid.


name: ISK7_HUMAN Serine protease inhibitor Kazal-type 7 (sprot)

description: A serine protease inhibitor Kazal-type 7 that is encoded in the genome of human.


pituitary stalk interruption syndrome

description: Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.


name: F107A_HUMAN Actin-associated protein FAM107A (sprot)

description: An actin-associated protein FAM107A that is encoded in the genome of human.


neuroaxonal dystrophy

description: A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)


dystonia 24

description: Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.


name: TTL13_HUMAN Tubulin polyglutamylase TTLL13 (sprot)

description: A tubulin polyglutamylase Ttll13 that is encoded in the genome of human.


name: CLCA_HUMAN Clathrin light chain A (sprot)

description: A clathrin light chain A that is encoded in the genome of human.


name: DGLB_HUMAN Diacylglycerol lipase-beta (sprot)

description: A diacylglycerol lipase-beta that is encoded in the genome of human.


acute hemorrhagic conjunctivitis

description: Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


name: HAUS2_HUMAN HAUS augmin-like complex subunit 2 (sprot)

description: A HAUS augmin-like complex subunit 2 that is encoded in the genome of human.


X-linked dystonia-parkinsonism

description: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course.


peritoneal neoplasm

description: A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma.


name: C1QT4_HUMAN Complement C1q tumor necrosis factor-related protein 4 (sprot)

description: A complement C1q tumor necrosis factor-related protein 4 that is encoded in the genome of human.


cerebral meningioma

description: A meningioma that affects the cerebral hemispheres.


hereditary spastic paraplegia 4

description: Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.


name: febrile infection-related epilepsy syndrome

description: A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.


adrenal gland neuroblastoma

description: A neuroblastoma arising from the adrenal gland.


name: ASTE1_HUMAN Protein asteroid homolog 1 (sprot)

description: A protein asteroid homolog 1 that is encoded in the genome of human.


name: TSTD2_HUMAN Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 (sprot)

description: A thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 that is encoded in the genome of human.


PHF3_HUMAN PHD finger protein 3 (sprot)

A PHD finger protein 3 that is encoded in the genome of human.


nail disorder

description: A disease involving the nail.


name: DBND2_HUMAN Dysbindin domain-containing protein 2 (sprot)

description: A dysbindin domain-containing protein 2 that is encoded in the genome of human.


name: MCCA_HUMAN Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (sprot)

description: A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial that is encoded in the genome of human. The human MCCC1 gene contains 19 exons, and maps to the chromosomal location 3q25-27.


name: Hypertension associated with pheochromocytoma

description: A type of hypertension associated with pheochromocytoma.


benazeprilat

A benzazepine that is 1,3,4,5-tetrahydro-2H-1-benzazepin-2-one in which the hydrogen attached to the nitrogen is replaced by a carboxy methyl group and in which the 3-pro-S hydrogen is replaced by the amino group of (2S)-2-amino-4-phenylbutanoic acid. An angiotensin-converting enzyme inhibitor, it is used as its monoester prodrug benazepril in the treatment of hypertension and heart failure.


name: DIP2C_HUMAN Disco-interacting protein 2 homolog C (sprot)

description: A disco-interacting protein 2 homolog C that is encoded in the genome of human.


amelogenesis imperfecta

description: Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.


name: ROAA_HUMAN Heterogeneous nuclear ribonucleoprotein A/B (sprot)

description: A heterogeneous nuclear ribonucleoprotein A/B that is encoded in the genome of human.


hereditary xanthinuria

description: Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.


pyrrole-2-carboxylic acid

A pyrrolecarboxylic acid that is 1H-pyrrole carrying a carboxy substituent at position 2.


name: pyruvate dehydrogenase phosphatase deficiency

description: Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.


chondroma

description: A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.


hyperacusis

description: A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.


lymph node neoplasm

description: A neoplasm involving a lymph node.


Neuropathic spinal arthropathy

description: A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.


name: MTR1L_HUMAN Melatonin-related receptor (sprot)

description: A melatonin-related receptor that is encoded in the genome of human.


name: TIDC1_HUMAN Complex I assembly factor TIMMDC1, mitochondrial (sprot)

description: A complex I assembly factor TIMMDC1, mitochondrial that is encoded in the genome of human.


name: SNIT1_HUMAN Uncharacterized protein encoded by SND1-IT1 (sprot)

description: An uncharacterized protein encoded by SND1-IT1 that is encoded in the genome of human.


pediatric multiple sclerosis

description: Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.


name: ASGR2_HUMAN Asialoglycoprotein receptor 2 (sprot)

description: An asialoglycoprotein receptor 2 that is encoded in the genome of human.


name: SEN54_HUMAN tRNA-splicing endonuclease subunit Sen54 (sprot)

description: A tRNA-splicing endonuclease subunit Sen54 that is encoded in the genome of human.


ethyl glucuronide

A beta-D-glucosiduronic acid that is the ethyl derivative of beta-D-glucuronic acid.


name: RFT1_HUMAN Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 (sprot)

description: A protein RFT1 that is encoded in the genome of human.


Supraclavicular lymphadenopathy

description: Enlarged lymph node located just above the clavicle (collarbone).


name: LRC41_HUMAN Leucine-rich repeat-containing protein 41 (sprot)

description: A leucine-rich repeat-containing protein 41 that is encoded in the genome of human.


structural epilepsy

description: Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy.


name: RBM8A_HUMAN RNA-binding protein 8A (sprot)

description: An RNA-binding protein 8A that is encoded in the genome of human.


name: PLCH1_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 (sprot)

description: A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 that is encoded in the genome of human.


name: COPA1_HUMAN Collagen alpha-1(XXV) chain (sprot)

description: A collagen alpha-1(XXV) chain that is encoded in the genome of human.


HEXD_HUMAN Hexosaminidase D (sprot)

A hexosaminidase D that is encoded in the genome of human.


name: ZC12D_HUMAN Probable ribonuclease ZC3H12D (sprot)

description: A probable ribonuclease ZC3H12D that is encoded in the genome of human.


malignant atrophic papulosis

description: Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.


name: DTWD1_HUMAN tRNA-uridine aminocarboxypropyltransferase 1 (sprot)

description: A tRNA-uridine aminocarboxypropyltransferase 1 that is encoded in the genome of human.


myelophthisic anemia

description: A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.


acute hemorrhagic pancreatitis

description: An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage.


name: IF2M_HUMAN Translation initiation factor IF-2, mitochondrial (sprot)

description: A translation initiation factor IF-2, mitochondrial that is encoded in the genome of human.


A member of the class of pyrazoles that is N-[4-(pyrazol-1-yl)phenyl]glycinamide in which the pyrazole ring is substituted at positions 3 and 5 by trifluoromethyl and phenanthrene-2-yl groups respectively.


ARSA_HUMAN Arylsulfatase A (sprot)

An arylsulfatase A that is encoded in the genome of human.


FA76B_HUMAN Protein FAM76B (sprot)

A protein FAM76B that is encoded in the genome of human.


CEFEPIME HYDROCHLORIDE

A hydrochloride that is the monohydrate of the dihydrochloride salt of cefepime.


SNG3_HUMAN Synaptogyrin-3 (sprot)

A synaptogyrin-3 that is encoded in the genome of human.


IRIGENIN

A hydroxyisoflavone that is isoflavone substituted by hydroxy groups at positions 5, 7 and 3' and methoxy groups at positions 6, 4' and 5' respectively.


glycogen storage disease Ib

description: A type of glycogenosis due to G6P deficiency.


COLUBRINIC ACID

A steroid acid isolated from the roots of Breynia fruticosa.


name: RFC5_HUMAN Replication factor C subunit 5 (sprot)

description: A replication factor C subunit 5 that is encoded in the genome of human.


name: CNDP1_HUMAN Beta-Ala-His dipeptidase (sprot)

description: A beta-Ala-His dipeptidase that is encoded in the genome of human.


subglottic hemangioma

description: A hemangioma arising from the subglottic area.


name: RENBP_HUMAN N-acylglucosamine 2-epimerase (sprot)

description: An N-acylglucosamine 2-epimerase that is encoded in the genome of human.


name: S35F6_HUMAN Solute carrier family 35 member F6 (sprot)

description: A solute carrier family 35 member F6 that encoded in the genome of human.


fentin hydroxide

An organotin compound that is triphenylstannane in which the hydrogen attached to tin is replaced by a hydroxy group. A fungicide used to control a variety of infections including blight on potatoes, leaf spot on sugar beet and alternaria blight on carrots.


SNX19_HUMAN Sorting nexin-19 (sprot)

A sorting nexin-19 that is encoded in the genome of human.


triglyme

A  polyether that consists of dodecane in which the carbon atoms at positions 2, 5, 8 and 11 are replaced by oxygen atoms.


Pink urine

description: An abnormal pink color of urine.


hemangiopericytoma, malignant

description: An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone.


PROMETHAZINE HYDROCHLORIDE

The hydrochloride salt of promethazine.


neonatal Marfan syndrome

description: Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.


name: NIPA4_HUMAN Magnesium transporter NIPA4 (sprot)

description: A magnesium transporter NIPA4 that is encoded in the genome of human.


ERIBULIN MESYLATE

A methanesulfonate salt obtained by reaction of eribulin with one equivalent of methanesulfonic acid. A fully synthetic macrocyclic ketone analogue of marine sponge natural products. Inhibits growth phase of microtubules via tubulin-based antimitotic mechanism, which leads to G2/M cell-cycle block, disruption of mitotic spindles, and, ultimately, apoptotic cell death after prolonged mitotic blockage.


anus adenocarcinoma

description: An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis.


8-anilinonaphthalene-1-sulfonic acid

A naphthalenesulfonic acid that is naphthalene-1-sulfonic acid substituted by a phenylamino group at position 8.


name: IZUM1_HUMAN Izumo sperm-egg fusion protein 1 (sprot)

description: An izumo sperm-egg fusion protein 1 that is encoded in the genome of human.


blepharophimosis

description: The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)


name: CPLN2_HUMAN Ciliogenesis and planar polarity effector 2 (sprot)

description: A ciliogenesis and planar polarity effector 2 that is encoded in the genome of human.


name: ZNF91_HUMAN Zinc finger protein 91 (sprot)

description: A zinc finger protein 91 that is encoded in the genome of human.


name: LGI4_HUMAN Leucine-rich repeat LGI family member 4 (sprot)

description: A leucine-rich repeat LGI family member 4 that is encoded in the genome of human.


name: NSUN4_HUMAN 5-methylcytosine rRNA methyltransferase NSUN4 (sprot)

description: A methyltransferase NSUN4 that is encoded in the genome of human.


mephenytoin

An imidazolidine-2,4-dione (hydantoin) in which the imidazolidine nucleus carries a methyl group at N-3 and has ethyl and phenyl substituents at C-5. An anticonvulsant, it is no longer available in the USA or the UK but is still studied largely because of its interesting hydroxylation polymorphism.


Meckel syndrome

description: A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.


name: NEUL4_HUMAN Neuralized-like protein 4 (sprot)

description: A neuralized-like protein 4 that is encoded in the genome of human.


name: HXD12_HUMAN Homeobox protein Hox-D12 (sprot)

description: A homeobox protein Hox-D12 that is encoded in the genome of human.


Follicular bronchiolitis

description: Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.


morellic acid

A dioxo monocarboxylic acid derived from morellin by oxidation of the aldehyde group to the corresponding carboxy group. Isolated from Garcinia morella and Garcinia hanburyi, it exhibits antineoplastic, antibacterial and anti-HIV activity.


name: ACAP1_HUMAN Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 (sprot)

description: An Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 that is encoded in the genome of human.


name: PITC1_HUMAN Cytoplasmic phosphatidylinositol transfer protein 1 (sprot)

description: A cytoplasmic phosphatidylinositol transfer protein 1 that is encoded in the genome of human.


brain astrocytoma

description: A astrocytoma (excluding glioblastoma) that involves the brain.


hepatic vein thrombosis

description: A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon.


PHENYLHYDRAZINE

A phenylhydrazine that is the monophenyl derivative of hydrazine.


Anisocytosis

description: Abnormally increased variability in the size of erythrocytes.


POTASSIUM CYANIDE

A cyanide salt containing equal numbers of potassium cations and cyanide anions.


polyradiculoneuropathy

description: Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.


EXTL2_HUMAN Exostosin-like 2 (sprot)

An exostosin-like 2 that is encoded in the genome of human.


retinitis pigmentosa 24

description: A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.


laduviglusib

A member of the class of aminopyrimidines that is 2-aminopyrimidine substituted at positions N2, 5 and 6 by (5-cyanopyridin-2-yl)ethyl, 4-methylimidazol-2-yl and 2,4-dichlorophenyl groups respectively.


name: AGRF4_HUMAN Adhesion G protein-coupled receptor F4 (sprot)

description: An adhesion G protein-coupled receptor F4 that is encoded in the genome of human.


Erythroid dysplasia

description: Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.


name: RIOX1_HUMAN Ribosomal oxygenase 1 (sprot)

description: A ribosomal oxygenase 1 that is encoded in the genome of human.


name: RPGR_HUMAN X-linked retinitis pigmentosa GTPase regulator (sprot)

description: An X-linked retinitis pigmentosa GTPase regulator that is encoded in the genome of human.


name: AR13A_HUMAN ADP-ribosylation factor-like protein 13A (sprot)

description: An ADP-ribosylation factor-like protein 13A that is encoded in the genome of human.


formamide

The simplest monocarboxylic acid amide, obtained by formal condensation of formic acid with ammonia. The parent of the class of formaldehydes.


name: Corticotropin-releasing hormone deficient adrenal insufficiency

description: Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.


mephenesin

A glycerol ether in which a single 2-methylphenyl group is attached at position 1 of glycerol via an ether linkage.


palmitoleoyl-CoA

A long-chain fatty acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of palmitoleic acid.


red-green color blindness

description: Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population.


name: TAAR8_HUMAN Trace amine-associated receptor 8 (sprot)

description: A trace amine-associated receptor 8 that is encoded in the genome of human.


name: CCD68_HUMAN Coiled-coil domain-containing protein 68 (sprot)

description: A coiled-coil domain-containing protein 68 that is encoded in the genome of human.


name: SF3A3_HUMAN Splicing factor 3A subunit 3 (sprot)

description: A splicing factor 3A subunit 3 that is encoded in the genome of human.


acquired aplastic anemia

description: An instance of aplastic anemia that is acquired during the lifetime of the individual.


renal tuberculosis

description: Infection of the kidney due to mycobacteria.


name: PAUF_HUMAN Pancreatic adenocarcinoma up-regulated factor (sprot)

description: A pancreatic adenocarcinoma up-regulated factor that is encoded in the genome of human.


chronic intestinal pseudoobstruction

description: Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth.


name: PA24B_HUMAN Cytosolic phospholipase A2 beta (sprot)

description: A cytosolic phospholipase A2 beta that is encoded in the genome of human.


name: POC1B_HUMAN POC1 centriolar protein homolog B (sprot)

description: A POC1 centriolar protein homolog B that is encoded in the genome of human.


name: INP5K_HUMAN Inositol polyphosphate 5-phosphatase K (sprot)

description: An inositol polyphosphate 5-phosphatase K that is encoded in the genome of human.


name: WDR13_HUMAN WD repeat-containing protein 13 (sprot)

description: A WD repeat-containing protein 13 that is encoded in the genome of human.


13-oxo-9,11-octadecadienoic acid

An oxooctadecadienoic acid that is 9,11-octadecadienoic acid in which the oxo group is located at position 13.


NONADECANOIC ACID

A C19 straight-chain fatty acid of plant or bacterial origin. An intermediate in the biodegradation of n-icosane, it has been shown to inhibit cancer growth.


MUC12_HUMAN Mucin-12 (sprot)

A mucin-12 that is encoded in the genome of human.


DAPLE_HUMAN Protein Daple (sprot)

A protein Daple that is encoded in the genome of human.


name: APH1B_HUMAN Gamma-secretase subunit APH-1B (sprot)

description: A gamma-secretase subunit APH-1B that is encoded in the genome of human.


cyclothiazide

3,4-Dihydro-2H-1,2,4-benzothiadiazine 1,1-dioxide substituted at positions 3, 5 and 6 by a 2-norbornen-5-yl group, chlorine, and a sulfonamide group, respectively. A thiazide diuretic, it has been used in the management of hypertension and oedema.


name: KLH15_HUMAN Kelch-like protein 15 (sprot)

description: A kelch-like protein 15 that is encoded in the genome of human.


name: posttransplant acute limbic encephalitis

description: Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated.


name: ALDOA_HUMAN Fructose-bisphosphate aldolase A (sprot)

description: A fructose-bisphosphate aldolase A that is encoded in the genome of human.


Argentine hemorrhagic fever

description: Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations.


name: GLT16_HUMAN Polypeptide N-acetylgalactosaminyltransferase 16 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 16 that is encoded in the genome of human.


name: ST1A4_HUMAN Sulfotransferase 1A4 (sprot)

description: A sulfotransferase 1A4 that is encoded in the genome of human.


name: ARMC3_HUMAN Armadillo repeat-containing protein 3 (sprot)

description: An armadillo repeat-containing protein 3 that is encoded in the genome of human.


name: PDXD1_HUMAN Pyridoxal-dependent decarboxylase domain-containing protein 1 (sprot)

description: A pyridoxal-dependent decarboxylase domain-containing protein 1 that is encoded in the genome of human.


name: MBTP2_HUMAN Membrane-bound transcription factor site-2 protease (sprot)

description: A membrane-bound transcription factor site-2 protease that is encoded in the genome of human.


endarteritis

description: Inflammation of the arterial intima.


name: C2TA_HUMAN MHC class II transactivator (sprot)

description: An MHC class II transactivator that is encoded in the genome of human.


name: COBL1_HUMAN Cordon-bleu protein-like 1 (sprot)

description: A cordon-bleu protein-like 1 that is encoded in the genome of human.


name: SF3B6_HUMAN Splicing factor 3B subunit 6 (sprot)

description: A splicing factor 3B subunit 6 that is encoded in the genome of human.


osteogenic neoplasm

description: A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma.


name: NAA30_HUMAN N-alpha-acetyltransferase 30 (sprot)

description: An N-acetyltransferase MAK3 that is encoded in the genome of human.


name: ZY11B_HUMAN Protein zyg-11 homolog B (sprot)

description: A protein zyg-11 homolog B that is encoded in the genome of human.


D-gluconate

A gluconate having D-configuration.


lipoatrophic diabetes

description: A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism.


name: RILP_HUMAN Rab-interacting lysosomal protein (sprot)

description: A Rab-interacting lysosomal protein that is encoded in the genome of human.


oxymetholone

A 3-oxo-5alpha- steroid that is 4,5alpha-dihydrotestosterone which is substituted by a hydroxymethylidene group at position 2 and by a methyl group at the 17alpha position. A synthetic androgen, it was mainly used for the treatment of anaemias until being replaced by treatments with fewer side effects.


name: SH3B4_HUMAN SH3 domain-binding protein 4 (sprot)

description: An SH3 domain-binding protein 4 that is encoded in the genome of human.


name: RT22_HUMAN Small ribosomal subunit protein mS22 (sprot)

description: A small ribosomal subunit protein mS22 that is encoded in the genome of human.


name: VATO_HUMAN V-type proton ATPase 21 kDa proteolipid subunit c'' (sprot)

description: A V-type proton ATPase 21 kDa proteolipid subunit c'' that is encoded in the genome of human.


name: ZFP2_HUMAN Zinc finger protein ZFP2 (sprot)

description: A zinc finger protein ZFP2 that is encoded in the genome of human.


name: heritable pulmonary arterial hypertension

description: Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.


endotheliitis

description: An inflammatory disease involving a pathogenic inflammatory response in the endothelium.


PRAX_HUMAN Periaxin (sprot)

A periaxin that is encoded in the genome of human.


legionaminic acid

A ketoaldonic acid derivative that is beta-neuraminic acid in which the hydroxy groups at positions 7 and 9 are substituted by an amino group and hydrogen respectively.


name: DUS11_HUMAN RNA/RNP complex-1-interacting phosphatase (sprot)

description: An RNA/RNP complex-1-interacting phosphatase that is encoded in the genome of human.


name: IGS11_HUMAN Immunoglobulin superfamily member 11 (sprot)

description: An immunoglobulin superfamily member 11 that is encoded in the genome of human.


name: PDE6A_HUMAN Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha (sprot)

description: A rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha that is encoded in the genome of human.


name: YPEL5_HUMAN Protein yippee-like 5 (sprot)

description: A protein yippee-like 5 that is encoded in the genome of human.


name: STAC3_HUMAN SH3 and cysteine-rich domain-containing protein 3 (sprot)

description: An SH3 and cysteine-rich domain-containing protein 3 that is encoded in the genome of human.


name: CD3D_HUMAN T-cell surface glycoprotein CD3 delta chain (sprot)

description: A CD3 delta that is encoded in the genome of human.


malignant phyllodes tumor

description: A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases.


benzene-1,3,5-tricarboxylic acid

A tricarboxylic acid that consists of benzene substituted by carboxy groups at positions 1, 3 and 5.


Mobius syndrome

description: Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.


phenyl hydrogen sulfate

An aryl sulfate that is phenol bearing an O-sulfo substituent.


small intestine neuroendocrine neoplasm

description: A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade).


name: TM38A_HUMAN Trimeric intracellular cation channel type A (sprot)

description: A trimeric intracellular cation channel type A that is encoded in the genome of human.


esophagus carcinoma in situ

description: Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.)


name: HV169_HUMAN Immunoglobulin heavy variable 1-69 (sprot)

description: A protein that is a translation product of the IGHV1-69 gene in human.


Cogan syndrome

description: Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases.


name: TF2H2_HUMAN General transcription factor IIH subunit 2 (sprot)

description: A general transcription factor IIH subunit 2 that is encoded in the genome of human.


TRYG1_HUMAN Tryptase gamma (sprot)

A tryptase gamma that is encoded in the genome of human.


Hyperoxemia

description: An abnormally high level of blood oxygen.


name: SAM11_HUMAN Sterile alpha motif domain-containing protein 11 (sprot)

description: A sterile alpha motif domain-containing protein 11 that is encoded in the genome of human.


ampulla of vater adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla


name: FOXJ3_HUMAN Forkhead box protein J3 (sprot)

description: A forkhead box protein J3 that is encoded in the genome of human.


name: FUT9_HUMAN 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 (sprot)

description: A 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 that is encoded in the genome of human.


name: ECEL1_HUMAN Endothelin-converting enzyme-like 1 (sprot)

description: An endothelin-converting enzyme-like 1 that is encoded in the genome of human.


Frasier syndrome

description: Frasier syndrome is characterized by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.


name: IDH3B_HUMAN Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial (sprot)

description: An isocitrate dehydrogenase [NAD] subunit beta, mitochondrial that is encoded in the genome of human.


name: THOC6_HUMAN THO complex subunit 6 homolog (sprot)

description: A THO complex subunit 6 that is encoded in the genome of human.


Jervell and Lange-Nielsen syndrome

description: An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.


name: BTBDA_HUMAN BTB/POZ domain-containing protein 10 (sprot)

description: A BTB/POZ domain-containing protein 10 that is encoded in the genome of human.


name: MED10_HUMAN Mediator of RNA polymerase II transcription subunit 10 (sprot)

description: A mediator of RNA polymerase II transcription subunit 10 that is encoded in the genome of human.


name: Guanosine, 2'-deoxy-6-O-ethyl-2'-fluoro-2'-methyl-, cyclic 3',5'-(1-methylethyl (R)-phosphate), (2'R)-


visceral heterotaxy

description: A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.


Foot dorsiflexor weakness

description: Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.


D-LEUCINE

The D-enantiomer of leucine.


Abnormal thrombosis

description: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).


benign spiradenoma

description: A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported.


name: PPE2_HUMAN Serine/threonine-protein phosphatase with EF-hands 2 (sprot)

description: A serine/threonine-protein phosphatase with EF-hands 2 that is encoded in the genome of human.


name: GBG7_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 (sprot)

description: A guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 that is encoded in the genome of human.


name: idiopathic hypersomnia without long sleep time

description: Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening.


name: SH24A_HUMAN SH2 domain-containing protein 4A (sprot)

description: An SH2 domain-containing protein 4A that is encoded in the genome of human.


WWC2_HUMAN Protein WWC2 (sprot)

A protein WWC2 that is encoded in the genome of human.


name: FXO3B_HUMAN Forkhead box protein O3B (sprot)

description: A protein that is a translation product of the FOXO3B gene in human.


name: hearing loss, mixed conductive-sensorineural

description: 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.


name: TAAR6_HUMAN Trace amine-associated receptor 6 (sprot)

description: A trace amine-associated receptor 6 that is encoded in the genome of human.


dengue shock syndrome

description: A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.


name: VTI1A_HUMAN Vesicle transport through interaction with t-SNAREs homolog 1A (sprot)

description: A vesicle transport through interaction with t-SNAREs homolog 1A that is encoded in the genome of human.


name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia

description: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.


ECKOL

A phlorotannin that is oxanthrene-1,3,6,8-tetrol substituted by a 3,5-dihydroxyphenoxy moiety at position 4. Isolated from the marine brown alga, Ecklonia cava, it exhibits antioxidant activity.


Meester-Loeys syndrome

description: An X-linked condition caused by mutation(s) in the BGN gene, encoding biglycan. It is characterized by cardiovascular defects and abnormal facies.


Emery-Dreifuss muscular dystrophy

description: Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.


name: TARA_HUMAN TRIO and F-actin-binding protein (sprot)

description: A TRIO and F-actin-binding protein that is encoded in the genome of human.


RIPP1_HUMAN Protein ripply1 (sprot)

A protein ripply1 that is encoded in the genome of human.


name: ZN219_HUMAN Zinc finger protein 219 (sprot)

description: A zinc finger protein 219 that is encoded in the genome of human.


name: HRCT1_HUMAN Histidine-rich carboxyl terminus protein 1 (sprot)

description: A histidine-rich carboxyl terminus protein 1 that is encoded in the genome of human.


breast mucinous carcinoma

description: An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis.


uterine anomalies

description: An abnormality of the uterus.


phosphaturic mesenchymal tumor

description: An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.


amino acid metabolism disease

description: A disease that has its basis in the disruption of cellular amino acid metabolic process.


Renal interstitial edema

description: Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.


name: L3R2A_HUMAN Putative uncharacterized protein encoded by LINC00312 (sprot)

description: A loss of heterozygosity 3 chromosomal region 2 gene A protein that is encoded in the genome of human.


A benzenetriol that is phloroglucinol in which two of the ring hydrogens are replaced by acetyl groups.


persistent truncus arteriosus

description: A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.


A primary alcohol that is heptane substituted by a hydroxy group at position 1. It has been isolated from Capillipedium parviflorum.


spermatocele

description: A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris.


acute zonal occult outer retinopathy

description: Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy.


name: GSC2_HUMAN Homeobox protein goosecoid-2 (sprot)

description: A homeobox protein goosecoid-2 that is encoded in the genome of human.


name: MET15_HUMAN 12S rRNA N4-methylcytidine (m4C) methyltransferase (sprot)

description: A 12S rRNA N4-methylcytidine (m4C) methyltransferase that is encoded in the genome of human.


name: PRS35_HUMAN Inactive serine protease 35 (sprot)

description: An inactive serine protease 35 that is encoded in the genome of human.


generalized atherosclerosis

description: Atherosclerosis that is not localized.


name: DDX43_HUMAN Probable ATP-dependent RNA helicase DDX43 (sprot)

description: A probable ATP-dependent RNA helicase DDX43 that is encoded in the genome of human.


femoral neuropathy

description: Neuropathy of the femoral nerve.


parkinsonian-pyramidal syndrome

description: A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3.


A tripeptide composed of N-acetylleucyl, leucyl and norleucinal residues joined in sequence.


chylomicron retention disease

description: Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.


name: autosomal recessive polycystic kidney disease

description: An inherited disorder characterized by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.


A 3beta-sterol formed from lanosterol by reduction across the C-24-C-25 double bond.


cartilage cancer

description: A cancer involving a cartilage tissue.


methylhistidine

A N(alpha)-methyl-L-histidines  that is L-histidine bearing a single methyl substituent at the N(alpha)-position.


phagocyte bactericidal dysfunction

description: Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.


name: RNBP6_HUMAN Ran-binding protein 6 (sprot)

description: A Ran-binding protein 6 that is encoded in the genome of human.


DICLOFOP-METHYL

A methyl ester resulting from the formal condensation of the carboxylic acid group of 2-[4-(2,4-dichlorophenoxy)phenoxy]propanoic acid with methanol.


.ALPHA.-TOCOPHERYLOXYACETIC ACID

A monocarboxylic acid that is (R,R,R)-alpha-tocopherol in which the hydroxy group at position 6 is replaced by a carboxymethoxy group. It is a nonhydrolyzable ether analog of vitamin E that exhibits anticancer properties.


breast adenomyoepithelioma

description: A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases.


name: P52K_HUMAN 52 kDa repressor of the inhibitor of the protein kinase (sprot)

description: A 52 kDa repressor of the inhibitor of the protein kinase that is encoded in the genome of human.


name: FL2D_HUMAN Pre-mRNA-splicing regulator WTAP (sprot)

description: A pre-mRNA-splicing regulator WTAP that is encoded in the genome of human.


Tietze syndrome

description: Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease.


name: FGD4_HUMAN FYVE, RhoGEF and PH domain-containing protein 4 (sprot)

description: A FYVE, RhoGEF and PH domain-containing protein 4 that is encoded in the genome of human.


name: NMDE4_HUMAN Glutamate receptor ionotropic, NMDA 2D (sprot)

description: A glutamate receptor ionotropic, NMDA 2D that is encoded in the genome of human.


narcolepsy 1

description: A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy.


name: TR112_HUMAN Multifunctional methyltransferase subunit TRM112-like protein (sprot)

description: A multifunctional methyltransferase subunit TRM112-like protein that is encoded in the genome of human.


name: PLAT2_HUMAN Phospholipase A and acyltransferase 2 (sprot)

description: A phospholipase A and acyltransferase 2 that is encoded in the genome of human.


MoO2-molybdopterin cofactor(2-)

An organophosphate oxoanion obtained by deprotonation of the phosphate OH groups of MoO2-molybdopterin cofactor.


JADE3_HUMAN Protein Jade-3 (sprot)

A protein Jade-3 that is encoded in the genome of human.


name: LC7L2_HUMAN Putative RNA-binding protein Luc7-like 2 (sprot)

description: A putative RNA-binding protein Luc7-like 2 that is encoded in the genome of human.


name: LAMP5_HUMAN Lysosome-associated membrane glycoprotein 5 (sprot)

description: A lysosome-associated membrane glycoprotein 5 that is encoded in the genome of human.


gingival hypertrophy

description: Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.


name: MMP26_HUMAN Matrix metalloproteinase-26 (sprot)

description: A matrix metalloproteinase-26 that is encoded in the genome of human.


A purine 2'-deoxyribonucleoside that is inosine in which the hydroxy group at position 2' is replaced by a hydrogen.


lung lymphoma

description: A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis.


radiculitis

description: An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path.


visual agnosia

description: An inability to recognize or interpret objects by sight.


MORPHINE HYDROCHLORIDE

The hydrochloride salt of morphine.


name: febrile ulceronecrotic Mucha-Habermann disease

description: Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death.


congenital heart malformation

description: A disease that has its basis in the disruption of heart development.


Increased basophil count

description: An abnormally increased count of basophils per volume in the blood circulation.


name: CA2D1_HUMAN Voltage-dependent calcium channel subunit alpha-2/delta-1 (sprot)

description: A voltage-dependent calcium channel subunit alpha-2/delta-1 that is encoded in the genome of human.


name: KLRF1_HUMAN Killer cell lectin-like receptor subfamily F member 1 (sprot)

description: A killer cell lectin-like receptor subfamily F member 1 that is encoded in the genome of human.


esotropia

description: A form of strabismus in which one or both eyes are deviated medially.


name: NPBW2_HUMAN Neuropeptides B/W receptor type 2 (sprot)

description: A neuropeptides B/W receptor type 2 that is encoded in the genome of human.


Hypotelorism

description: Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).


Charcot-Marie-Tooth disease type 3

description: A demyelinating peripheral neuropathy characterized by delayed motor development.


name: ZN461_HUMAN Zinc finger protein 461 (sprot)

description: A zinc finger protein 461 that is encoded in the genome of human.


name: CT458_HUMAN Cancer/testis antigen family 45 member A8 (sprot)

description: A protein that is a translation product of the CT45A8 gene in human.


GCGR-related hyperglucagonemia

description: A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.


visceral leishmaniasis

description: A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.


name: TDRD9_HUMAN ATP-dependent RNA helicase TDRD9 (sprot)

description: An ATP-dependent RNA helicase TDRD9 that is encoded in the genome of human.


retinal perforation

description: A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters.


acquired factor X deficiency

description: An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition.


refeeding syndrome

description: Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally).


name: AP2S1_HUMAN AP-2 complex subunit sigma (sprot)

description: An AP-2 complex subunit sigma that is encoded in the genome of human.


name: TEF_HUMAN Thyrotroph embryonic factor (sprot)

description: A thyrotroph embryonic factor that is encoded in the genome of human.


pancreatic cystadenoma

description: A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas.


name: S36A3_HUMAN Proton-coupled amino acid transporter 3 (sprot)

description: A proton-coupled amino acid transporter 3 that is encoded in the genome of human.


name: microcephalic osteodysplastic dysplasia, Saul-Wilson type

description: A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.


Pulmonary hypertensive crisis

description: Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.


NEOCUPROINE

A member of the class of phenanthrolines that is 1,10-phenanthroline bearing two methyl substituents at positions 2 and 9.


name: SH3L2_HUMAN SH3 domain-binding glutamic acid-rich-like protein 2 (sprot)

description: An SH3 domain-binding glutamic acid-rich-like protein 2 that is encoded in the genome of human.


capnellene

A sesquiterpene.


name: DMRT2_HUMAN Doublesex- and mab-3-related transcription factor 2 (sprot)

description: A doublesex- and mab-3-related transcription factor 2 that is encoded in the genome of human.


name: TBC9B_HUMAN TBC1 domain family member 9B (sprot)

description: A TBC1 domain family member 9B that is encoded in the genome of human.


skeletal muscle neoplasm

description: A benign or malignant mesenchymal neoplasm arising from skeletal muscle.


name: CTAG2_HUMAN Cancer/testis antigen 2 (sprot)

description: A cancer/testis antigen 2 that is encoded in the genome of human.


A purine ribonucleoside 5'-monophosphate having guanine as the nucleobase.


cutaneous diphtheria

description: A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.


isolated congenital hepatic fibrosis

description: A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.


name: TCF19_HUMAN Transcription factor 19 (sprot)

description: A transcription factor 19 that is encoded in the genome of human.


name: P12L2_HUMAN POM121-like protein 2 (sprot)

description: A POM121-like protein 2 that is encoded in the genome of human.


name: progesterone-receptor negative breast cancer


name: ZNF14_HUMAN Zinc finger protein 14 (sprot)

description: A zinc finger protein 14 that is encoded in the genome of human.


AFTIN_HUMAN Aftiphilin (sprot)

An aftiphilin that is encoded in the genome of human.


Fanconi anemia complementation group J

description: Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.


central nervous system germinoma

description: A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO)


isocaproic acid

A methyl-branched fatty acid that is pentanoic acid with a methyl group substituent at position 4. It is a metabolite of 20 alpha-hydroxycholesterol


DELTA-TOCOTRIENOL

A tocotrienol that is chroman-6-ol substituted by methyl groups at positions 2 and 8 and a farnesyl chain at position 2.


Abnormality of the middle ear

description: An abnormality of the middle ear.


EMG abnormality

description: Abnormal results of investigations using electromyography (EMG).


name: ECHB_HUMAN Trifunctional enzyme subunit beta, mitochondrial (sprot)

description: A trifunctional enzyme subunit beta, mitochondrial that is encoded in the genome of human.


A phytoceramide in which the ceramide N-acyl group is specified as 2-hydroxyoctadecanoyl


name: SKOR2_HUMAN SKI family transcriptional corepressor 2 (sprot)

description: A ladybird homeobox corepressor 1-like protein that is encoded in the genome of human.


name: NCKX5_HUMAN Sodium/potassium/calcium exchanger 5 (sprot)

description: A sodium/potassium/calcium exchanger 5 that is encoded in the genome of human.


name: AUNIP_HUMAN Aurora kinase A- and ninein-interacting protein (sprot)

description: An aurora kinase A- and ninein-interacting protein that is encoded in the genome of human.


name: CEA20_HUMAN Carcinoembryonic antigen-related cell adhesion molecule 20 (sprot)

description: A carcinoembryonic antigen-related cell adhesion molecule 20 that is encoded in the genome of human.


name: RAB6B_HUMAN Ras-related protein Rab-6B (sprot)

description: A Ras-related protein Rab-6B that is encoded in the genome of human.


Dressler syndrome

description: A pericarditis characterized by inflammation, occurring after injury, located in pericardium.


congenital myasthenic syndrome 10

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.


name: G3ST4_HUMAN Galactose-3-O-sulfotransferase 4 (sprot)

description: A galactose-3-O-sulfotransferase 4 that is encoded in the genome of human.


ethylmalonic encephalopathy

description: Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.


Erythematous oral mucosa

description: An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.


name: NYAP1_HUMAN Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 (sprot)

description: A neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 that is encoded in the genome of human.


description: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).


malignant germ cell tumor of ovary

description: Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen.


name: ERMP1_HUMAN Endoplasmic reticulum metallopeptidase 1 (sprot)

description: An endoplasmic reticulum metallopeptidase 1 that is encoded in the genome of human.


anorectal malformation

description: An abnormality of the anus or rectum.


trachea squamous cell carcinoma

description: A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor.


pneumonic pasteurellosis

description: Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal.


HEPTANE

A straight-chain alkane with seven carbon atoms. It has been found in Jeffrey pine (Pinus jeffreyi).


laminopathy

description: A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.


MUC20_HUMAN Mucin-20 (sprot)

A mucin-20 that is encoded in the genome of human.


name: RT14_HUMAN Small ribosomal subunit protein uS14m (sprot)

description: A small ribosomal subunit protein uS14m that is encoded in the genome of human.


name: DLDH_HUMAN Dihydrolipoyl dehydrogenase, mitochondrial (sprot)

description: A dihydrolipoyl dehydrogenase, mitochondrial that is encoded in the genome of human.


Paroxysmal ventricular tachycardia

description: Episodes of ventricular tachycardia that have a sudden onset and ending.


atypical autism

description: Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '


GNE myopathy

description: Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.


name: SLC6A3-related dopamine transporter deficiency syndrome

description: A complex movement disorder characterized by tremor, rigidity, bradykinesia, chorea, reduced facial expression, and Parkinsonism-dystonia. This disease is caused by loss of function variants in the SLC6A3 gene, which impair the dopamine transporter protein. The onset of this disease ranges from infancy to adulthood.


name: DTWD2_HUMAN tRNA-uridine aminocarboxypropyltransferase 2 (sprot)

description: A tRNA-uridine aminocarboxypropyltransferase 2 that is encoded in the genome of human.


Fat malabsorption

description: Abnormality of the absorption of fat from the gastrointestinal tract.


Lower limb spasticity

description: Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis


name: DCTD_HUMAN Deoxycytidylate deaminase (sprot)

description: A deoxycytidylate deaminase that is encoded in the genome of human.


name: EF1G_HUMAN Elongation factor 1-gamma (sprot)

description: An elongation factor 1-gamma that is encoded in the genome of human.


name: Hereditary nonpolyposis colorectal carcinoma


name: LRRN3_HUMAN Leucine-rich repeat neuronal protein 3 (sprot)

description: A leucine-rich repeat neuronal protein 3 that is encoded in the genome of human.


pemphigoid

description: An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily.


QUILLAIC ACID

A pentacyclic triterpenoid that is olean-12-ene substituted by hydroxy groups at positions 3 and 16, an oxo group at position 23 and a carboxy group at position 28 (the 3beta,16alpha stereoisomer).


Neonatal hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.


name: GCC1_HUMAN GRIP and coiled-coil domain-containing protein 1 (sprot)

description: A GRIP and coiled-coil domain-containing protein 1 that is encoded in the genome of human.


name: NKG2E_HUMAN NKG2-E type II integral membrane protein (sprot)

description: An NKG2-E type II integral membrane protein that is encoded in the genome of human.


name: WDR11_HUMAN WD repeat-containing protein 11 (sprot)

description: A WD repeat-containing protein 11 that is encoded in the genome of human.


fasudil hydrochloride hydrate

A hydrate that is the hemihydrate form of fasudil hydrochloride. It is a drug indicated for the prevention of cerebral vasospasm and ensuing cerebral ischemia following surgery for subarachnoid hemorrhage.


name: LRRT4_HUMAN Leucine-rich repeat transmembrane neuronal protein 4 (sprot)

description: A leucine-rich repeat transmembrane neuronal protein 4 that is encoded in the genome of human.


Crigler-Najjar syndrome type 1

description: Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).


RELL2_HUMAN RELT-like protein 2 (sprot)

A RELT-like protein 2 that is encoded in the genome of human.


name: LYSM3_HUMAN LysM and putative peptidoglycan-binding domain-containing protein 3 (sprot)

description: A LysM and putative peptidoglycan-binding domain-containing protein 3 that is encoded in the genome of human.


serum sickness

description: Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction.


name: SPEG_HUMAN Striated muscle preferentially expressed protein kinase (sprot)

description: A striated muscle preferentially expressed protein kinase that is encoded in the genome of human.


name: DHB14_HUMAN 17-beta-hydroxysteroid dehydrogenase 14 (sprot)

description: A 17-beta-hydroxysteroid dehydrogenase 14 that is encoded in the genome of human.


subacute bacterial endocarditis

description: Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.


Hypoglutaminemia

description: Decreased amount of glutamine in the blood.


hawkinsinuria

description: Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.


aminomalonic acid

An amino dicarboxylic acid that is  malonic acid in which one of the methylene hydrogens has been replaced by an amino group.


name: PRR14_HUMAN Proline-rich protein 14 (sprot)

description: A proline-rich protein 14 that is encoded in the genome of human.


name: DJC24_HUMAN DnaJ homolog subfamily C member 24 (sprot)

description: A DnaJ homolog subfamily C member 24 that is encoded in the genome of human.


A member of the class of chalcones that is trans-chalcone substituted by a hydroxy group at position 4.


5-PHENYLVALERIC ACID

A monocarboxylic acid that is valeric acid substituted by a phenyl group at the delta-position.


valerate

A short-chain fatty acid anion that is the conjugate base of valeric acid; present in ester form as component of many steroid-based pharmaceuticals.


Chiari malformation

description: A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.


erythema elevatum diutinum

description: Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses.


autosomal dominant cerebellar ataxia

description: A clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy.


arterolane

An oxaspiro compound that is dispiro[cyclohexane-1,3'-[1,2,4]trioxolane-5',2''-tricyclo[3.3.1.1(3,7)]decane] substituted by a 2-[(2-amino-2-methylpropyl)amino]-2-oxoethyl group at position 4s. Its maleic acid salt is used as an antimalarial drug in combination with piperaquine.


MYOM3_HUMAN Myomesin-3 (sprot)

A myomesin-3 that is encoded in the genome of human.


name: TLCD4_HUMAN TLC domain-containing protein 4 (sprot)

description: A TLC domain-containing protein 4 that is encoded in the genome of human.