amphetamines

Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine.


primary amine

A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group.


alkylamines

Any amine formally derived from ammonia by replacing one, two or three hydrogen atoms by alkyl groups.


tertiary amine

A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups.


gallate catabolic process via gallate dioxygenase activity

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

The chemical reactions and pathways resulting in the breakdown of gallate, the anion of gallic acid, where the first step is the conversion of gallate to (1E)-4-oxobut-1-ene-1,2,4-tricarboxylate catalyzed by gallate dioxygenase.


aerobic gallate catabolic process

The chemical reactions and pathways resulting in the breakdown of gallate, the anion of gallic acid, in the presence of oxygen.


gallate catabolic process via 2-pyrone-4,6-dicarboxylate

The chemical reactions and pathways resulting in the breakdown of gallate, the anion of gallic acid, via the intermediate 2-pyrone-4,6-dicarboxylate.


zygodactyly type 2

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non-syndromic syndactyly

A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.


syndactyly type 5

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.


non-syndromic synpolydactyly

A synpolydactyly that is not part of a larger syndrome.


polysyndactyly 4

Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.


syndactyly type 1

Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.


mesoaxial synostotic syndactyly with phalangeal reduction

Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.


syndactyly type 6

Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.


syndactyly type 4

A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).


syndactyly type 8

Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.


synpolydactyly type 2

Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.


syndactyly type 3

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.


chalcone biosynthetic process

The chemical reactions and pathways resulting in the formation of chalcone, phenyl steryl ketone or its hydroxylated derivatives.


familial avascular necrosis of femoral head

Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.


outer renal medulla peritubular capillary

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A peritubular capillary that is part of a outer medulla of kidney.


peritubular capillary

The tiny blood vessels that receive blood from the efferent arterioles of the glomerulus, and interact with superficial cortical nephrons allowing reabsorption and secretion between blood and the inner lumen of the nephron; peritubular capillaries are situated around the tubule and are at low pressure.


renal cortex peritubular capillary

A peritubular capillary that is part of a cortex of kidney.


Advanced Malignant Small Intestinal Neoplasm

A malignant small intestinal neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.


Malignant neoplasm of small intestine, incl duodenum metastatic

A malignant small intestinal neoplasm that has spread from its original site of growth to another anatomic site.


Locally Advanced Small Intestinal Carcinoma

Small intestinal carcinoma that has spread to nearby tissues or lymph nodes.


Advanced Small Intestinal Small Cell Neuroendocrine Carcinoma

A small intestinal small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Small intestine adenocarcinoma metastatic

An adenocarcinoma that arises from the small intestine and has metastasized to other anatomic sites.


Advanced Small Intestinal Neuroendocrine Carcinoma

A small intestinal neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Locally Advanced Small Intestinal Adenocarcinoma

Small intestinal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Advanced Small Intestinal Large Cell Neuroendocrine Carcinoma

A small intestinal large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Small intestine carcinoma metastatic

A carcinoma that arises from the small intestine and it has metastasized to other anatomic sites.


Metastatic Small Intestinal Neuroendocrine Carcinoma

A small intestinal neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14


myopathy caused by variation in GMPPB

Any myopathy in which the cause of the disease is a variation in the GMPPB gene.


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


autosomal recessive limb-girdle muscular dystrophy type 2T

Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.


hexadecanal metabolic process

The chemical reactions and pathways involving hexadecanal, the C16 straight chain aldehyde.


hexadecanal biosynthetic process

The chemical reactions and pathways resulting in the formation of hexadecanal, the C16 straight chain aldehyde.


cytochrome-c oxidase deficiency disease

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.


ENSAT Stage III Adrenal Cortical Carcinoma

Stage III includes: T3/T4, N0/N1, M0.  Tumor of any size that has spread to the fat outside the adrenal gland or into nearby organs or tissues and/or has spread to the regional lymph nodes. (ENSAT 7th Ed, 2009)


Adrenal Cortical Carcinoma by ENSAT Stage

A term that refers to the staging of adrenal cortical carcinoma according to the European Network for the Study of Adrenal Tumors (ENSAT).


ENSAT Stage I Adrenal Cortical Carcinoma

Stage I includes: T1, N0, M0.  Tumor 5 cm or less in greatest dimension. The tumor has not invaded the surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues.  (ENSAT 7th Ed, 2009)


ENSAT Stage II Adrenal Cortical Carcinoma

Stage II includes: T2, N0, M0. Tumor greater than 5 cm. The tumor has not invaded surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues. (ENSAT 7th Ed, 2009)


ENSAT Stage IV Adrenal Cortical Carcinoma

Stage IV includes: Any T, Any N, M1. Tumor of any size that involves distant organs such as liver, bone or brain. The tumor may or may not involve nearby organs, tissues or lymph nodes. (ENSAT 7th Ed, 2009)


plasma membrane-derived photosystem I

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A protein complex located in the plasma membrane-derived thylakoid. The photosystem functions as a light-dependent plastocyanin-ferredoxin oxidoreductase, transferring electrons from plastocyanin to ferredoxin. Examples of this complex are found in bacterial species.


negative regulation of TORC2 signaling

Any process that stops, prevents or reduces the frequency, rate or extent of TORC2 signaling.


regulation of TORC2 signaling

Any process that modulates the frequency, rate or extent of TORC2 signaling.


positive regulation of TORC2 signaling

Any process that activates or increases the frequency, rate or extent of TORC2 signaling.


Dsc E3 ubiquitin ligase complex

An E3 ubiquitin ligase complex localized to the ER and Golgi membrane. In fission yeast comprises Dsc1, 2, 3 and 4. Involved in the processes of fission yeast sre1 (human SREBP) transcriptional activator proteolytic cleavage, the multivesicular body (MVB) pathway, and a post-endoplasmic reticulum pathway for protein catabolism.


non-intein-mediated protein splicing

The post-translational removal of peptide sequences from within a protein sequence, by a process not involving inteins.


Open fracture of carpal bone, unspecified

A traumatic break in one or more of the carpal bones that  involves a break in the adjacent skin.


Closed fracture of carpal bone

A traumatic break in one or more of the carpal bones  that does not involve a break in the adjacent skin.


internal genitalia morphogenesis

The process in which the anatomical structures of the internal genitalia are generated and organized. The internal genitalia are the internal sex organs such as the uterine tube, the uterus and the vagina in female mammals, and the testis, seminal vesicle, ejaculatory duct and prostate in male mammals.


biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

Catalysis of the reaction: S-adenosylmethioninamine + cadaverine = 5'-methylthioadenosine + N-(3-aminopropyl)cadaverine.


trichorhinophalangeal syndrome, type III

A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.


peptidoglycan-protein cross-linking via N6-mureinyl-L-lysine

The process of linking a protein to peptidoglycan via the epsilon amino group of lysine to the diaminopimelic acid of the peptidoglycan.


peptidoglycan turnover

The continual breakdown and regeneration of peptidoglycan required to maintain the cell wall.


galactosaminoglycan metabolic process

The chemical reactions and pathways involving galactosaminoglycans, any one of a group of polysaccharides that contain amino sugars derived from the galactose.


peptidoglycan biosynthetic process

The chemical reactions and pathways resulting in the formation of peptidoglycans, any of a class of glycoconjugates found in bacterial cell walls.


peptidoglycan-protein cross-linking via L-threonyl-pentaglycyl-murein

The process of linking a protein to peptidoglycan via a carboxy terminal threonine carboxyl group through a pentaglycyl peptide to the lysine or diaminopimelic acid of the peptidoglycan.


peptidoglycan-protein cross-linking via L-alanyl-pentaglycyl-murein

The process of linking a protein to peptidoglycan via a carboxy terminal alanine carboxyl group through a pentaglycyl peptide to the lysine or diaminopimelic acid of the peptidoglycan.


The chemical reactions and pathways resulting in the formation of galactosaminoglycans, any of a group of polysaccharides that contain amino sugars derived from the galactose.


protein-chondroitin sulfate linkage via chondroitin sulfate D-glucuronyl-D-galactosyl-D-galactosyl-D-xylosyl-L-serine

Chondroitin sulfate components are covalently linked to a core glycoprotein via O-glycosidic linkages between xylose and serine residues.


peptidoglycan-protein cross-linking

The process of covalently linking peptidoglycan (murein) to proteins.


Cyst of nasal cavity

An epithelium-lined cyst in the nasal cavity.


Catalysis of the reaction: GDP-beta-L-galactose + alpha-D-glucose 1-phosphate = beta-L-galactose-1-phosphate + GDP-alpha-D-glucose.


autosomal dominant nonsyndromic hearing loss 65

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


saccharopine oxidase activity

Catalysis of the reaction: L-saccharopine + O2 = L-2-aminoadipic 6-semialdehyde + L-glutamate + H2O2.


Coronavinae infectious disease

Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine).


long COVID-19

A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction.


Symptomatic COVID-19 Infection Laboratory-Confirmed

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is symptomatic at the time of testing.


A disease caused by infection with severe acute respiratory syndrome coronavirus 2.


Asymptomatic COVID-19 Infection Laboratory-Confirmed

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is asymptomatic at the time of testing.


Middle East respiratory syndrome

A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.


Current Seasonal Coronavirus Infection

Seasonal coronavirus infection is evident at the time of testing.


chromosome Y disorder

Chromosomal disorder in which chromosome Y is affected.


isochromosomy Yq

Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.


spermatogenic failure, Y-linked, 2

A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y.  It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis.


48,XYYY syndrome

48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.


partial chromosome Y deletion

Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.


ring chromosome Y

Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.


49,XYYYY syndrome

49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.


isochromosomy Yp

Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.


polygalacturonase activity

Catalysis of the random hydrolysis of (1->4)-alpha-D-galactosiduronic linkages in pectate and other galacturonans.


non-replicative DNA transposition

Process by which a transposable element is excised from the donor site and integrated at the target site without replication of the element. Also referred to as cut-and-paste transposition.


replicative DNA transposition

Process of transposition in which the existing element is replicated and one of the copies is excised and integrated at a new target site. Also referred to as copy-and-paste transposition.


Pancreatic Well Differentiated Ductal Adenocarcinoma

A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures.


A SNARE complex that contains synaptotagmin, synaptobrevin 2 (VAMP2), SNAP-25, syntaxin 1a, syntaxin1b, and Unc13b (or orthologs thereof).


cellular response to iron(II) ion

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iron(II) ion stimulus.


regulation of chemorepellent activity

Any process that modulates the frequency, rate or extent of chemorepellent activity.


negative regulation of chemorepellent activity

Any process that stops, prevents or reduces the frequency, rate or extent of chemorepellent activity.


positive regulation of chemorepellent activity

Any process that activates or increases the frequency, rate or extent of chemorepellent activity.


(R,R)-asenapine

A 5-chloro-2-methyl-2,3,3a,12b-tetrahydrodibenzo[2,3:6,7]oxepino[4,5-c]pyrrole in which both of the stereocentres have R configuration.


secretory dimeric IgA immunoglobulin complex

A dimeric form of secretory IgA immunoglobulin complex.


negative regulation of TRAIL-activated apoptotic signaling pathway

Any process that stops, prevents or reduces the frequency, rate or extent of TRAIL-activated apoptotic signaling pathway.


L-methionine biosynthetic process from homoserine via O-succinyl-L-homoserine and cystathionine

The chemical reactions and pathways resulting in the formation of L-methionine from other compounds, including homoserine, via the intermediates O-succinyl-L-homoserine and cystathionine.


photosystem I antenna complex

The antenna complex of photosystem I. A photosystem has two closely linked components, an antenna containing light-absorbing pigments and a reaction center. Each antenna contains one or more light-harvesting complexes (LHCs).


salt aversion

The specific avoidance actions or reactions of an organism in response to the perception of salt.


larval feeding behavior

Feeding behavior in a larval (immature) organism.


pharyngeal pumping

The contraction and relaxation movements of the pharyngeal muscle that mediate feeding in nematodes.


metanephric glomerular endothelium

The metanephric glomerular endothelium is an epithelial tissue that covers the internal surfaces of the glomerulus of the metanephros[GO].


metanephric glomerular epithelium

A metanephric glomerular visceral epithelial cell is a specialized epithelial cell that contains 'feet' that interdigitate with the 'feet' of other glomerular epithelial cells in the metanephros[GO].


poly(hydroxyalkanoate) biosynthetic process from glucose

The chemical reactions and pathways resulting in the formation of poly(hydroxyalkanoate) from glucose.


poly(hydroxyalkanoate) biosynthetic process from fatty acid

The chemical reactions and pathways resulting in the formation of poly(hydroxyalkanoate) from fatty acid.


skin sensitivity to sun

The response of human skin to sun exposure.


acromelanosis

Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.


temperature-sensitive oculocutaneous albinism type 1

Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).


hyperpigmentation, progressive cribriform and zosteriform


Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.


Griscelli syndrome type 3

A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.


Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.


minimal pigment oculocutaneous albinism type 1

Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.


oculocutaneous albinism type 1

Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).


familial generalized lentiginosis

Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.


severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


deaf blind hypopigmentation syndrome, Yemenite type

Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.


hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.


Tietz syndrome

Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.


reticulate acropigmentation of Kitamura

A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.


oculocutaneous albinism type 6

A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.


Dowling-Degos disease 2

Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.


albinism-hearing loss syndrome

A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.


Hermansky-Pudlak syndrome 5

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.


Hermansky-Pudlak syndrome 7

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.


Hermansky-Pudlak syndrome 9

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.


Dowling-Degos disease 4

Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.


oculocutaneous albinism type 7

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.


oculocutaneous albinism type 5

Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.


dyschromatosis universalis hereditaria 1


Hermansky-Pudlak syndrome 8

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.


Griscelli syndrome

Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).


Griscelli syndrome type 1

A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.


Dowling-Degos disease

A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.


Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.


linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies


Hermansky-Pudlak syndrome 10

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.


osteopathia striata-pigmentary dermopathy-white forelock syndrome

Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.


oculocutaneous albinism

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.


autosomal dominant oculocutaneous albinism

Autosomal dominant form of oculocutaneous albinism.


piebald trait-neurologic defects syndrome

Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.


oculocerebral hypopigmentation syndrome, Cross type

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.


Hermansky-Pudlak syndrome 3

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.


deafness, congenital, with total albinism


dyschromatosis universalis hereditaria 2


syndromic oculocutaneous albinism

A oculocutaneous albinism that is part of a larger syndrome.


hyperpigmentation with or without hypopigmentation, familial progressive


oculocutaneous albinism type 3

Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.


familial progressive hyperpigmentation

Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.


oculocutaneous albinism type 1B

Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.


leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.


oculocutaneous albinism type 1A

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.


dyschromatosis universalis hereditaria 3

Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.


familial progressive hyper- and hypopigmentation

Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.


Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.


dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.


oculocutaneous albinism type 2

Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.


Ito hypomelanosis

Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.


Dowling-Degos disease 1

Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.


linear and whorled nevoid hypermelanosis

Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.


telomeric D-loop binding

Binding to a telomeric D-loop. A telomeric D-loop is a three-stranded DNA displacement loop that forms at the site where the telomeric 3' single-stranded DNA overhang (formed of the repeat sequence TTAGGG in mammals) is tucked back inside the double-stranded component of telomeric DNA molecule, thus forming a t-loop or telomeric-loop and protecting the chromosome terminus.


microcephaly 9, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.


detection of parasitic plant

The series of events in which a stimulus from a parasitic plant is received and converted into a molecular signal.


detection of fungus

The series of events in which a stimulus from a fungus is received and converted into a molecular signal.


detection of symbiont

The series of events in which a stimulus from a symbiont (an organism living in close physical association with an organism of a different species) is received and converted into a molecular signal. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.


detection of molecule of fungal origin

The series of events in which a stimulus from a molecule of fungal origin is received and converted into a molecular signal.


detection of yeast

The series of events in which a stimulus from a yeast is received and converted into a molecular signal.


detection of symbiotic bacterium

The series of events in which a stimulus from a symbiotic bacterium, a bacterium living in close physical association with another organism, is received and converted into a molecular signal.


detection of protozoan

The series of events in which a stimulus from a protozoan is received and converted into a molecular signal.


detection of molecule of oomycetes origin

The series of events in which a stimulus from a molecule of oomycetes origin is received and converted into a molecular signal.


detection of nematode

The series of events in which a stimulus from a nematode is received and converted into a molecular signal.


detection of muramyl dipeptide

The series of events in which a muramyl dipeptide stimulus is received by a cell and converted into a molecular signal. Muramyl dipeptide is derived from peptidoglycan.


detection of lipoteichoic acid

The series of events in which a lipoteichoic acid stimulus is received by a cell and converted into a molecular signal; lipoteichoic acid is a major component of the cell wall of gram-positive bacteria and typically consists of a chain of glycerol-phosphate repeating units linked to a glycolipid anchor.


detection of oomycetes

The series of events in which a stimulus from an oomycetes is received and converted into a molecular signal.


detection of insect

The series of events in which a stimulus from an insect is received and converted into a molecular signal.


polyketide biosynthetic process

The chemical reactions and pathways resulting in the formation of polyketides, any of a diverse group of natural products synthesized via linear poly-beta-ketones, which are themselves formed by repetitive head-to-tail addition of acetyl (or substituted acetyl) units indirectly derived from acetate (or a substituted acetate) by a mechanism similar to that for fatty acid biosynthesis but without the intermediate reductive steps.


fonsecin biosynthetic process

The chemical reactions and pathways resulting in the formation of fonsecin.


aspyridone A biosynthetic process

The chemical reactions and pathways resulting in the formation of aspyridone A.


mevastatin biosynthetic process

The chemical reactions and pathways resulting in the formation of mevastatin , also known as compactin or ML-236B, and which acts as a potent competitive inhibitor of HMG-CoA reductase.


erythromycin biosynthetic process

The chemical reactions and pathways resulting in the formation of erythromycin.


fumigermin biosynthetic process

The chemical reactions and pathways resulting in the formation of fumigermin, an alpha-pyrone secondary metabolite found in some species of fungi such as Aspergillus fumigatus.


oxytetracycline biosynthetic process

The chemical reactions and pathways resulting in the formation of oxytetracycline.


zearalenone biosynthetic process

The chemical reactions and pathways resulting in the formation of zearalenone, a mycotoxin produced by several Fusarium species, is most commonly found as a contaminant in stored grain and has chronic estrogenic effects on mammals.


tetracycline biosynthetic process

The chemical reactions and pathways resulting in the formation of tetracycline, (4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide, a broad-spectrum antibiotic produced by streptomyces bacteria that blocks binding of aminoacyl tRNA to the ribosomes of both Gram-positive and Gram-negative organisms (and those of organelles).


The chemical reactions and pathways resulting in the formation of dihydroxy naphthalene (DHN)-melanin.


averantin biosynthetic process

The chemical reactions and pathways resulting in the formation of averantin.


(M)-viriditoxin biosynthetic process

The chemical reactions and pathways resulting in the formation of (M)-viriditoxin, a fungal secondary metabolite with antibacterial activity.


granaticin biosynthetic process

The chemical reactions and pathways resulting in the formation of granaticin.


ilicicolin H biosynthetic process

The chemical reactions and pathways resulting in the formation of ilicicolin H, a 4-hydroxy-2-pyridone alkaloid that has potent and broad antifungal activities by inhibiting the mitochondrial respiration chain.


aspyridone B biosynthetic process

The chemical reactions and pathways resulting in the formation of aspyridone B.


epothilone biosynthetic process

The chemical reactions and pathways resulting in the formation of epothilone, a drug obtained from the myxobacteria Sporangium cellulosum that interferes with cell division. Some epothilones are being studied as treatments for cancer.


ansamycin biosynthetic process

The chemical reactions and pathways leading to the formation of ansamycins, any of a group of complex macrolactam compounds characterized by a cyclic structure in which an aliphatic ansa chain forms a bridge between two non-adjacent positions of a cyclic p-system; many exhibit antibacterial, antifungal or antitumor activity.


F-9775A biosynthetic process

The chemical reactions and pathways resulting in the formation of F-9775A.


patulin biosynthetic process

The chemical reactions and pathways resulting in the formation of patulin, an acetate-derived tetraketide mycotoxin produced by several fungal species that shows antimicrobial properties against several bacteria.


macrolide biosynthetic process

The chemical reactions and pathways leading to the formation of macrolides, any of a large group of polyketide compounds that contain a large lactone ring with few or no double bonds and no nitrogen atoms, linked glycosidically to one or more sugar groups. The macrolides include the carbomycins, the erythromycins, oleandomycin, oligomycins, and the spiramycins, and act as antibiotics, mainly against Gram-positive bacteria.


mRNA branch site recognition

Recognition of the pre-mRNA branch site sequence by components of the assembling spliceosome.


adenylate cyclase-activating adrenergic receptor signaling pathway involved in cardiac muscle relaxation

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An adrenergic receptor signaling pathway that contributes to a reduction in cardiac muscle contraction. Beta-adrenergic receptor-induced cardiac relaxation is achieved by a GPCR-activated adenylate cyclase generating cAMP; cAMP then activates the cAMP-dependent protein kinase A (PKA), which phosphorylates the sarcoplasmic reticulum (SR) membrane protein PLB. In its non-phosphorylated state, PLB acts as an inhibitor of the ATPase Ca(2+) pump of the cardiac SR (SERCA2a); inhibition of the pump is relieved upon phosphorylation. The pump removes Ca(2+) from the cytoplasm, thereby preventing cytosolic Ca(2+)-dependent activation of contractile proteins, leading to enhanced muscle relaxation.


Hematopoietic System Finding

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

Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system.


Neoplastic Plasma Cells 30 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts Under 20,000 in Peripheral Blood White Cells

A quantitative microscopic finding indicating that less than 20,000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts Under 25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Myeloblasts 1 Percent or Less of Peripheral Blood White Cells

A microscopic finding indicating that 1 percent or less of the white cells in a peripheral blood sample are myeloblasts.


Blasts 20-30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 20 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


B-cell aplasia

A condition characterized by extremely low B-cell counts. It occurs when anti-CD19 CAR T-cells attack and kill CD19-expressing B-lymphocytes.


Blasts Expressing T-Lymphoid and Myeloid Markers Present

An indication that immature hematopoetic cells expressing T-lymphoid and myeloid markers were detected in a sample.


Lymphoblasts More Than 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Bone Marrow Dysplasia Present in Less than 10 Percent of Myeloid Cells

A morphologic finding indicating the presence of dysplasia in less than 10 percent of the myeloid cells in a bone marrow sample.


Blasts 30 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 30 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Myeloblasts Under 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts More than 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 20 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


Myeloblasts 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Blasts 6-24 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 6 and 24 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Myeloblasts 5-9 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 9 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Monoblasts 80 Percent or More of Bone Marrow Monocytic Cells

A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample are immature mononcytes.


Unilineage Dysplasia Present

A hematologic test result indicating dysplastic changes in only one of the myeloid cell lineages in the bone marrow.


Megakaryoblasts 50 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 50 percent of the nucleated cells in a bone marrow sample are immature megakaryocytes.


Neoplastic Monocytes and Precursors 20 Percent or More of Bone Marrow Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are neoplastic mononcytes.


Lymphoblasts 25 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating 25 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Blasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 5-9 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 9 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Bone Marrow Dysplasia Present in 10 Percent or More of the Cells of Two or More Myeloid Cell Lines

An indication that signs of dysplasia were detected in at least 10 percent of the cells from two myeloid cell lineages in a bone marrow sample


Blasts Expressing CD56 and Immature T-Cell Markers Present

An indication that immature hematopoetic cells expressing NCAM1 (CD56) and immature T-lymphoid markers were detected in a sample.


Circulating Tumor Cells Positive

An indication that tumor cells have been detected in a peripheral blood sample.


Blasts More than 60 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 60 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Chronic Hemolysis

Persisting and longstanding disruption of erythrocyte membrane integrity and the resulting release of hemoglobin.


Absolute Neutrophil Count Greater than or Equal to 500/mm3

A quantitative microscopic finding indicating that neutrophils are found at greater than or 500 per cubic millimeter field in a sample.


Eosinophilia Greater than 1500 cells per Microliter

A semi-quantitative microscopic finding indicating that more than 1500 eosinophils are present per microliter of sample.


Eosinophilopenia

Abnormally low level of eosinophils in the blood.


Blasts 20 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


thrombocytopenia 1

An X-linked recessive bleeding disorder caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein, resulting in thrombocytopenia.


Lymphoblasts 1 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 1 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Neoplastic Plasma Cells 10 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 10-20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Promonocytes in Bone Marrow Markedly Increased

An indication that the number of neoplastic promonocytes in a bone marrow sample have sharply increased when compared to a normal baseline or a previous sample measurement.


Blasts Under 15 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Immature Granulocytes in Peripheral Blood Under 10 Percent

A semi-quantitative microscopic finding indicating that less than 10 percent of the cells in a peripheral blood sample are immature granulocytes.


Myeloblasts Under 20 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating less than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Blasts More than 15 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Bone Marrow Blasts Decreased by 50 Percent or More Compared to Pretreatment Level

A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject's sample of nucleated cells from bone marrow has decreased by 50 percent or more over the value recorded for a pretreatment sample from that subject.


Fetal Circulation with Increased Nucleated Erythrocytes

Increased nucleated red blood cells within the fetal circulation.


Blasts 1 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 1 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 5 Percent or More of Bone Marrow Nucleated Cells

A microscopic finding indicating the presence of blasts constituting at least 5% of the nucleated cells in a bone marrow aspirate.


Blasts Expressing B-Lymphoid, T-Lymphoid, and Myeloid Markers Present

A finding indicating the presence of blasts with evidence of trilineage (B-cell, T-cell, and myeloid lineage) assignment.


Ring Sideroblasts Under 15 Percent of Erythroid Precursors

A semi-quantitative microscopic finding indicating less than 15 percent of the cells in a sample of erythroid precursor cells are ring sideroblasts.


Blasts 10-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Immature Myeloid Cells Increased in Bone Marrow

An increased number of myeloid precursors in the bone marrow.


Neoplastic Plasma Cells More than 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Myeloblasts Under 1 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating less than 10 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


Neoplastic Plasma Cells More than 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Cells of Monocytic Lineage 80 Percent or More of Bone Marrow Leukemic Cells

A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample from a subject with leukemia are from the mononcyte lineage.


Neoplastic Plasma Cells 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Myeloblasts Under 10 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Blasts More than 10000 of Peripheral Blood White Cells

A quantitative microscopic finding indicating that more than 10000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


T-Cells Absent, T-Cell Receptor Signaling Defective and Natural Killer Cells and B-Cells Normal

A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are absent or found at abnormally low amounts and a defect in T-cell receptor signaling pathways has been observed.


Neoplastic Plasma Cells Under 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 10-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Bone Marrow Basophilia

A finding indicating abnormally high levels of basophils in a bone marrow sample.


Blasts 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Activated B-Cell Positive

An indication that actively proliferating and differentiating B-lymphocytes have been detected in a sample.


Blasts Less than 0.01 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 0.01 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 50 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that greater than or equal to 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 9 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 9 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Dual Population of Bone Marrow Blasts Present

An indication that immature hematopoetic cells from two lineages were detected in a bone marrow sample.


Myeloblasts 90 Percent or More of Bone Marrow Non-Erythroid Cells

A semi-quantitative microscopic finding indicating that at least 90 percent of the non-erythroid nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Normoblastic Erythroid Hyperplasia

A laboratory test result indicating an abnormally high quantity of immature red blood cells containing hemoglobin and a pyknotic nucleus.


Mild to Moderate Anisopoikilocytosis

A test result indicating a mild to moderate degree of anisopoikilocytosis in the peripheral blood.


Myeloblasts 10 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts 0.01 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 0.01 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Circulating Blasts 4-9 Percent

A laboratory test result indicating that 4-9 percent of the cells in a peripheral blood sample are immature mononuclear cells.


Blasts Greater than or Equal to 5000 per mL

A semi-quantitative microscopic finding indicating that immature mononuclear cells are found at greater than or equal to 5000 per milliliter in a sample.


Mast Cells 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are mast cells.


Blasts More Than 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Monoblasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are immature mononcytes.


Blasts 30 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts Under 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 10 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at most 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Myeloblasts Under 2 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating less than 2 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


Bone Marrow Dysplasia Present in 50 Percent or More of the Cells of Two Cell Lines

An indication that signs of dysplasia were detected in at least 50 percent of the cells from two hematopoietic cell lineages in a bone marrow sample


neonatal thrombocytopenia

A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn.


Myeloblasts Under 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating less than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts Under 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


T-Cells and Natural Killer Cells Absent B-Cells Normal

A hematology test result indicating that a subject has a normal amount of B-cells but both T-cells and natural killer cells are either absent or found at abnormally low amounts.


Hemolysis

Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin.


Immature Granulocytes in Peripheral Blood Increased

The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process.


Blasts 6-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 6 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Blasts 5-20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Atypical Lymphocytes Present in Peripheral Blood

A variation of lymphocytes found in a peripheral blood smear that are larger, with abundant cytoplasm, and having nuclei with multiple nucleoli.


Chronic idiopathic neutropenia

A rare hematologic disorder characterized by neutropenia lasting more than three months with no identifiable cause.


Blasts 0 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that immature mononuclear cells are not detected when the nucleated cells in a peripheral leukocyte sample were examined.


Platelet Count 50000

Indicates a platelet count of at least 50,000 per cubic millimeter.


Hypereosinophilia of Undetermined Significance

An interim diagnosis made during the evaluation of persistent peripheral eosinophilia in asymptomatic patients that demonstrate no clinical signs of end-organ dysfunction.


Neonatal neutropenia (disorder)

A condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn.


Blasts 5-30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


gp100:154-162-Reactive Peripheral Blood Lymphocytes Present

A laboratory test result indicating that lymphocytes reactive to amino acids 154 through 162 of the melanocyte protein PMEL (gp100) were detected in a sample.


HIV-Related Thrombocytopenia

Thrombocytopenia that occurs in patients with acquired immunodeficiency syndrome.


Megakaryocytes Increased in Bone Marrow

A laboratory test result indicating abnormally high numbers of megakaryocytes in the bone marrow.


Neoplastic Plasma Cells Under 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Clonal Plasma Cells in Bone Marrow

A finding indicating that clonal plasma cells have been detected in a bone marrow sample.


Blasts 2-4 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 2 and 4 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 5-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 1 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 1 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Bone Marrow Eosinophilia

A finding indicating abnormally high levels of eosinophils in a bone marrow sample.


Lymphoblasts 5-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


thrombocytopenia 2

An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.


Myeloblasts 10-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Myeloblasts More than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts Under 30 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Mast Cells 10 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are mast cells.


myelophthisic anemia

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


Neoplastic Plasma Cells Present in Bone Marrow

A finding indicating that neoplastic plasma cells were detected in a bone marrow sample.


Neoplastic Plasma Cells 20 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 21-30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 21-30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Myeloblasts 5-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


CD5-Positive Blast Cells Greater than 50 Percent

A semi-quantitative microscopic finding indicating that more than 50% of the immature blood cells in a sample express CD5.


Blasts More than 25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 5 percent of the leukocytes in a peripheral blood sample are neoplastic plasma cells.


Blasts 20,000 or Less of Peripheral Blood White Cells

A quantitative microscopic finding indicating that 20,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts More than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Less Than 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Severe Myelosuppression

Severe reduction of bone marrow function secondary to drug treatment. It results in anemia, leukopenia, and thrombocytopenia.


Platelet Count 20000

Indicates a platelet count of at least 20,000 per cubic millimeter.


Prolymphocytes Exceed 55 Percent of Lymphoid Cells in the Peripheral Blood

A semi-quantitative microscopic finding indicating that more than 55 percent of the lymphoid cells in a peripheral blood sample are prolymphocytes.


Peripheral Blood Basophilia

A finding indicating abnormally high levels of basophils in a peripheral blood sample.


Myeloblasts 5 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Myeloblasts Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


T-Cells and B-Cells Absent and Natural Killer Cells Normal

A hematology test result indicating that a subject has a normal amount of natural killer cells but B-cells and T-cells are either absent or found at abnormally low amounts.


Blasts 15 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at most 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Decrease in Blasts

A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has decreased when compared to a prior sample from the same subject.


Lymphoblasts Less than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Granulocytes Increased in Bone Marrow

An indication that the number of granulocytes in a bone marrow sample have increased when compared to a normal baseline or a previous sample measurement.


Blasts 2 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 2 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blast Cells Present

A laboratory test result indicating the presence of blast cells in a blood sample.


Blasts 6 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 6 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 15 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 50 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 50 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


T-Cells, B-Cells and Natural Killer Cells Absent

A hematology test result indicating that a subject's T-cells, B-cells and natural killer cells are either absent or found at abnormally low amounts.


Bi-Cytopenia

A deficiency of two of the three blood cell lineages; erythrocytes, leukocytes and platelets.


Blasts 20 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Neoplastic Plasma Cells 10-60 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 60 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Plasma Cells Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


Erythroid Precursors 80 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample are immature cells of the erythroid lineage.


Blasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells Between 20 and 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 20 and 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Atypical Lymphocytes Present in Bone Marrow

A finding indicating that atypical lymphocytes were detected in a bone marrow sample.


Neoplastic Plasma Cells Under 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 25 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 25 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 60 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 60 percent or more of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts More than 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 60 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 60 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells More than 30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Plasma Cells 10-59 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 59 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Promyelocytes in Bone Marrow Markedly Increased


Myeloblasts 1 Percent of Peripheral Blood White Cells

A microscopic finding indicating that 1 percent of the white cells in a peripheral blood sample are myeloblasts.


Hemoglobinuria due to hemolysis from external causes

Hemoglobin in the urine that is due to hemolysis from an external cause.


Neoplastic Plasma Cells Under 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Aberrant Clonal Plasma Cell Population

A population of plasma cells which display atypical morphological features, an abnormal immunophenotypic profile, and molecular genetic characteristics of clonality (monoclonality).


Blasts Less than or Equal to 10000/mm3

A quantitative microscopic finding indicating that immature mononuclear cells are found at less than or equal to 10000 per cubic millimeter field in a sample.


Erythroid Series Cells Decreased

A morphologic finding indicating the presence of a decreased number of erythroid cells in the bone marrow.


Blasts Expressing B-Lymphoid and T-Lymphoid Markers Present

A finding indicating the presence of blasts with evidence of both B-cell and T-cell lineage assignment.


Chemotherapy Related Agranulocytosis

Agranulocytosis that occurs with chemotherapy.


Drug Induced Thrombocytopenia

Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction.


Blasts 0.1 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 0.1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Expressing B-Lymphoid and Myeloid Markers Present

An indication that immature hematopoetic cells expressing B-lymphoid and myeloid markers were detected in a sample.


Peripheral Blood Eosinophilia

A finding indicating abnormally high levels of eosinophils in a peripheral blood sample.


Blasts of Mixed Phenotype Present

An indication that immature hematopoetic cells from two or more lineages were detected in a sample.


Myeloblasts 20 Percent or More of Bone Marrow Non-Erythroid Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the non-erythroid nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts 25 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 25 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).


Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating less than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Neoplastic Granulocytes and Precursors 20 Percent or More of Bone Marrow Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are comprised of neoplastic cells with features of the granulocyte lineage.


Basophilopenia

Abnormally low level of basophils in the blood.


Pancytopenia caused by medication

Pancytopenia caused by exposure to certain drugs.


Blasts 5-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Ineffective Hematopoiesis

A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation.


Myeloblasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Homozygous Hemoglobin C or E, Non-Disease

A state in which both beta-globin alleles code for a C or E variant but which leads to such minor changes to the hemoglobin that it does not cause disease.


T-Cells Absent and Normal Natural Killer Cells and B-Cells

A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are either absent or found at abnormally low amounts.


Bone Marrow Dysplasia Present

A laboratory test result indicating abnormal bone marrow cells.


Neoplastic Plasma Cells Between 10 and 30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Erythroid Precursors 50 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 50 percent of the nucleated cells in a bone marrow sample are immature cells of the erythroid lineage.


Ring Sideroblasts 15 Percent or More of Erythroid Precursors

A semi-quantitative microscopic finding indicating 15 percent or more of the cells in a sample of erythroid precursor cells are ring sideroblasts.


Blasts 30,000 or Less of Peripheral Blood White Cells

A quantitative microscopic finding indicating that 30,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Myeloblasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Neoplastic Plasma Cells 30 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Lymphoma Cells More than 25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are lymphoma-derived cells.


Blasts 11-20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 11 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 20 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Bone Marrow Blasts Percentage Decreased by 5 to 25 Percent

A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject's sample of nucleated cells from bone marrow has decreased by between 5 and 25 percent from a previous percentage recorded for a sample from that subject.


Blasts 5 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 30 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Autoimmune cytopenia

Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets.


Hypercellular Bone Marrow

An abnormal finding in a bone marrow aspirate or biopsy specimen indicating increased cellularity. It can result from hyperplasia of one or more hematopoietic cell lines or malignant neoplasms that affect the bone marrow.


Myeloblasts Present

A microscopic finding indicating the presence of immature mononuclear cells of myeloid origin in a sample.


BCR-JAK2 Fusion in Hematologic Malignancies

An extremely rare finding in hematologic malignancies indicating an association with BCR-JAK2 fusion gene that results from t(9;22)(p24;q11.2). Most cases exhibit chronic myelogenous leukemia-type phenotype.


Neoplastic Plasma Cells 10 Percent of Bone Marrow Nucleated Cells

A microscopic finding indicating that 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 5-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Low Natural Killer Cell Activity

A decrease in the ability of peripheral mononuclear blood cells to lyse MHC I deficient target cells either due to low numbers of natural killer cells, or a reduction of their lytic activity.


Blasts 5-10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.


Blasts 10 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 2 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 2 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 1 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Increased by Greater than or Equal to 50 Percent

A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has increased by at least 50 percent over a prior sample from the same subject.


Blasts Under 10 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Neoplastic Plasma Cells More than 5 Percent of Peripheral Blood White Cells

A microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


Blasts 6-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 6 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Multilineage Dysplasia Present

A hematologic test result indicating dysplastic changes in two or more of the myeloid cell lineages in the bone marrow.


fatty acyl-CoA reductase 1 dysregulation

A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.


fatty acyl-CoA reductase defects

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.


positive regulation of microtubule minus-end binding

Any process that activates or increases the frequency, rate or extent of microtubule minus-end binding.


positive regulation of substance P receptor binding

Any process that activates or increases the frequency, rate or extent of substance P receptor binding.


positive regulation of cytokine activity

Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.


positive regulation of apolipoprotein binding

Any process that activates or increases the frequency, rate or extent of apolipoprotein binding.


positive regulation of low-density lipoprotein particle receptor binding

Any process that activates or increases the frequency, rate or extent of low-density lipoprotein particle receptor binding.


positive regulation of actin binding

Any process that activates or increases the frequency, rate or extent of actin binding.


positive regulation of actin filament binding

Any process that activates or increases the frequency, rate or extent of actin filament binding.


positive regulation of C-C chemokine binding

Any process that activates or increases the frequency, rate or extent of C-C chemokine binding.


positive regulation of heparan sulfate proteoglycan binding

Any process that activates or increases the frequency, rate or extent of heparan sulfate proteoglycan binding.


positive regulation of small GTPase binding

Any process that activates or increases the frequency, rate or extent of small GTPase binding.


positive regulation of growth hormone activity

Any process that activates or increases the frequency, rate or extent of growth hormone activity.


age related macular degeneration 4

Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.


age related macular degeneration 13

An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.


melioidosis

An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.


mitochondrial mRNA 5'-end processing

Any process involved in forming the mature 5' end of an mRNA molecule that derives from the mitochondrial genome.


negative regulation of conidium formation

Any process that stops, prevents, or reduces the frequency, rate or extent of conidium formation, a process of producing non-motile spores, called conidia, via mitotic asexual reproduction in higher fungi. Conidia are haploid cells genetically identical to their haploid parent. They are produced by conversion of hyphal elements, or are borne on sporogenous cells on or within specialized structures termed conidiophores, and participate in dispersal of the fungus.


response to cytokinesis checkpoint signaling

A process that occurs in response to signals generated as a result of cytokinesis checkpoint signaling.


regulation of ascospore wall chitin catabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of ascospore wall chitin.


Mixed phenotype acute leukemia T/myeloid

A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.  The prognosis is usually unfavorable.


Catalysis of the reaction: 5-hydroxy-2-oxo-4-ureido-2,5-dihydro-1H imidazole-5-carboxylate + H+ = S-allantoin + CO2.


negative regulation of formin-nucleated actin cable assembly

Any process that decreases the rate, frequency, or extent of formin-nucleated actin cable assembly. Formin-nucleated actin cable assembly is the aggregation, arrangement and bonding together of a set of components to form a formin-nucleated actin cable. A formin-nucleated actin cable is an actin filament bundle that consists of short filaments organized into bundles of uniform polarity, and is nucleated by formins.


isoamylase activity

Catalysis of the hydrolysis of alpha-(1,6)-D-glucosidic branch linkages in glycogen, amylopectin and their beta-limits dextrins.


subiliac lymph node

A lymph node located inferior to the ilium.


middle lateral line ganglion

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The middle lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the middle lateral line.


Prostate Acinar Adenocarcinoma, Atrophic Variant

An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm.


ceroid lipofuscinosis, neuronal, 6A

A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


Circular Ligament of the Tooth

A ligament located in the lamina propria of the marginal gingiva that encircles the tooth.


multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.


Prostate cancer stage C

Tumor is clinically localized to the periprostatic area, but extends through the prostatic capsule; the seminal vesicles may be involved.


non-severe combined immunodeficiency due to polymerase delta deficiency

Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.


ear neoplasm

A neoplasm (disease) that involves the ear.


perichondritis of auricle

An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.


congenital corneal opacities, cornea guttata, and corectopia


chronic eustachian salpingitis

Chronic form of otosalpingitis.


acute perichondritis of pinna

Acute form of perichondritis of auricle.


acute infection of pinna

An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.


benign neoplasm of middle ear

A benign neoplasm that involves the middle ear.


autoimmune inner ear disease

A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.


space motion sickness

Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)


external ear neoplasm

A neoplasm (disease) that involves the external ear.


cholesteatoma of external ear

A cholesteatoma (disease) that involves the external ear.


acute eustachian salpingitis

Acute form of otosalpingitis.


chronic fungal otitis externa

Chronic form of otomycosis.


otomycosis

Fungus infection of the external ear, usually by aspergillus species


external ear lipoma

A benign adipose tissue neoplasm of the external ear.


chronic tubotympanic suppurative otitis media

A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.


chronic tympanitis

Chronic form of tympanitis.


middle ear disorder

A disease involving the middle ear.