serine/threonine-protein kinase B-raf sequence variant G464E, initiator methionine removed phosphorylated 1 (human)

A serine/threonine-protein kinase B-raf (human) that has a Glu residue at the position equivalent to Gly-464 of the amino acid sequence represented by UniProtKB:P15056, that has had the initiator methionine removed, and that has been phosphorylated on the residues at the positions equivalent to Ser-446, Thr-599, Ser-602, and Ser-729. UniProtKB:P15056, 2-766, Ser-446/Ser-602/Ser-729, MOD:00046|Gly-464, CHEBI:29972|Thr-599, MOD:00047.


fibroblast growth factor receptor 1 isoform h4 (human)

A fibroblast growth factor receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P11362-2.


glutamate receptor ionotropic, NMDA 3A isoform 2 (rat)

A glutamate receptor ionotropic, NMDA 3A isoform 1 that is encoded in the genome of rat.


TGF-beta receptor type-1 sequence variant 11 (human)

A TGF-beta receptor type-1 (human) that has a three-residue deletion at the position equivalent to region 24-26 of the amino acid sequence represented by UniProtKB:P36897-1. UniProtKB:P36897, 1-23, 27-503.


eyes absent homolog 2 isoform h3 (human)

An eyes absent homolog 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O00167-3.


tyrosine-protein kinase JAK2 phosphorylated 1 (human)

A tyrosine-protein kinase JAK2 (human) that has been phosphorylated on the residues at the positions equivalent to Tyr-1007 and Tyr-1008 of the amino acid sequence represented by UniProtKB:O60674. UniProtKB:O60674, Tyr-1007/Tyr-1008, MOD:00048.


exportin-1 methylated 3 (human)

An exportin-1 (human) that has been methylated on the residue at the position equivalent to Cys-859 of the amino acid sequence represented by UniProtKB:O14980. UniProtKB:O14980, Cys-859, MOD:00660.


G-protein coupled receptor 39

A rhodopsin-like G-protein coupled receptor that is a translation product of the human GPR39 gene or a 1:1 ortholog thereof.


synaptic vesicle glycoprotein 2A isoform h2 (human)

A synaptic vesicle glycoprotein 2A (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7L0J3-2.


Nipple Sensation Change or Loss

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

Excessive sensitivity or changes in sensitivity in the nipple(s).


Blanching

Transient pallor of the skin caused by reduced blood flow to the affected region.


secretory meningioma

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

A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen.


Red cell adenylate kinase deficiency

An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment.


anemia due to erythrocyte enzyme disorder

Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis.


glycogen storage disease due to phosphoglycerate mutase deficiency

A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.


Deficiency of hexokinase (disorder)

A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia.


Glucose phosphate isomerase deficiency

A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia.


Deficiency of enolase

A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness.


triosephosphate isomerase deficiency

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.


hemolytic anemia due to diphosphoglycerate mutase deficiency

A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.


Uridine monophosphate hydrolase deficiency

An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder.


thiocarbamic ester

Any organonitrogen compound with formula RS-C(=X)NH2 where X = O (monothiocarbamic esters) or S (dithiocarbamic esters), or their N-substituted derivatives.


monothiocarbamic ester

A thiocarbamic ester formally derived from a monothiocarbamic acid.


composite hemangioendothelioma

An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia.


Intermediate Vascular Neoplasm

A vascular neoplasm with borderline malignant potential.


retiform hemangioendothelioma

An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels.


kaposiform hemangioendothelioma

Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.


Endovascular papillary angioendothelioma of childhood

A papillary intralymphatic angioendothelioma that occurs during childhood.


Intermediate (Locally Aggressive) Blood Vessel Neoplasm

A borderline blood vessel neoplasm that has locally aggressive behavior.


Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma

An intermediate, rarely metastasizing blood vessel neoplasm that more frequently affects young adult males and usually arises in the lower limbs.  In approximately half of the affected patients the tumor is painful and in two-thirds of the patients the tumor is multifocal.  Morphologically it is characterized by the presence of sheets and fascicles of spindle cells with abundant eosinophilic cytoplasm and vesicular nuclei.  Cytologic atypia is usually mild.  Approximately 60% of the patients develop local recurrences or additional tumors in the same anatomic region.


Intermediate (Rarely Metastasizing) Blood Vessel Neoplasm

A borderline blood vessel neoplasm that may metastasize on rare occasions.


Intermediate Blood Vessel Neoplasm

A borderline blood vessel neoplasm that can be locally aggressive, and may metastasize on rare occasions.


A pseudomyogenic hemangioendothelioma that occurs during childhood.


An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation.


A kaposiform hemangioendothelioma that occurs during childhood.


Polymorphus Hemangioendothelioma

An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of a polymorphic cellular infiltrate.


mild ichthyosis vulgaris

An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations.


Elevated Expression

An indication that the expression of a gene, transcript or protein is higher than a previous value or a normal range of values.


TP53 Overexpression Positive

An indication that overexpression of TP53 has been detected in a sample.


Melanosomal Genes Overexpression

An indication that overexpression of genes involved in melanosomal biogenesis or melanin biosynthesis has been detected in a sample.


TBX21 Overexpression Positive

An indication that overexpression of T-box 21 (TBX21) has been detected in a sample.


MiRNA 371-373 Overexpression

An indication that microRNAs found in the miRNA 371-373 cluster are overexpressed in a sample.


Achaete-Scute Homolog 1 Overexpression

An indication that overexpression of achaete-scute homolog 1 has been detected in a sample.


Fibroblast Growth Factor 1 Overexpression


BCL2 Overexpression Positive

An indication that overexpression of BCL2 has been detected in a sample.


Presence of ERBB2 Overexpressing Disseminated Tumor Cells

An indication that single tumor cells or small clusters of tumor cells that are overexpressing ERBB2 are present in a tissue sample.


Elevated ALCAM

A finding indicating elevated concentrations of ALCAM in a sample.


BCL6 Overexpression Positive

An indication that overexpression of BCL6 has been detected in a sample.


THBS1 Overexpression Positive

An indication that overexpression of THBS1 has been detected in a sample.


HIF1A Overexpression Positive

An indication that overexpression of HIF1A has been detected in a sample.


MYC Overexpression

An indication that overexpression of the MYC gene has been detected in a sample.


HRAS Overexpression Positive

An indication that overexpression of HRAS has been detected in a sample.


Elevated SLC34A2 Positive

A finding indicating detection of elevated expression of SLC34A2 in a sample.


Neurogenic Differentiation Factor 1 Overexpression

An indication that overexpression of neurogenic differentiation factor 1 has been detected in a sample.


Transforming Growth Factor-Beta Overexpression


Elevated CCR8 Expression

A finding indicating elevated levels of expression of CCR8 were detected in a sample.


NY-ESO-1 Overexpression Positive

An indication that overexpression of NY-ESO-1 has been detected in a sample.


Elevated MET Protein Expression

An indication that elevated concentrations of MET protein were found in a sample.


MET Overexpression Positive

An indication that overexpression of MET has been detected in a sample.


Elevated Inflammatory Gene Signature Expression

A genetic finding indicating that tumor cells express elevated levels of genes encoding proteins involved in inflammation and immunity. This signature may include elevated expression of genes involved in interferon signaling, antigen presentation, immune checkpoint regulation and/or the differentiation and activation of cytotoxic T-cells.


VEGF Overexpression Positive

An indication that overexpression of a member of the VEGF family has been detected in a sample.


AXL Overexpression Positive

An indication that overexpression of AXL has been detected in a sample.


POU Class 2 Homeobox 3 Overexpression

An indication that overexpression of POU class 2 homeobox 3 has been detected in a sample.


NTRK1 Overexpression Positive

An indication that overexpression of NTRK1 has been detected in a sample.


FGF23 Overexpression Positive

An indication that overexpression of FGF23 has been detected in a sample.


Fibroblast Growth Factor 2 Overexpression


EZHIP Overexpression Positive

An indication that overexpression of EZHIP has been detected in a sample.


Yes-Associated Protein 1 Overexpression

An indication that overexpression of yes-associated protein 1 has been detected in a sample.


Sonic Hedgehog Pathway Genes Overexpression

An indication that overexpression of one or more genes in the sonic hedgehog (SHH) pathway has been detected in a sample.


GRPR Overexpression Positive

An indication that overexpression of GRPR has been detected in a sample.


GATA3 Overexpression Positive

An indication that overexpression of GATA3 has been detected in a sample.


ERBB2 Overexpression

An indication that overexpression of ERBB2 has been detected in a sample.


KIT Overexpression Positive

An indication that overexpression of KIT has been detected in a sample.


NECTIN4 Overexpression Positive

An indication that overexpression of NECTIN4 has been detected in a sample.


Grade 1 Lymphocyte Count Decreased, CTCAE

<LLN-800/mm3; <LLN-0.8 x 10e9/L


Hemolymphangioma

A hemorrhagic lymphatic lesion characterized by the presence of dilated lymphatic spaces, extravasation of red blood cells, hemosiderin deposition, and fibrosis.


Grade 3 Fallopian Tube Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


Stage IIIA Childhood Testicular Germ Cell Tumor by Toronto Guidelines v2

Any pT, Any N, M1, S0, S1. (Childhood cancer staging for population registries according to the Toronto Childhood Cancer Stage Guidelines - Version 2. Cancer Council Queensland and Cancer Australia: Brisbane, Australia; 2021.)


chilblain lupus 1

Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.


chronic cutaneous lupus erythematosus

Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis.


hypertrophic or verrucous lupus erythematosus


familial chilblain lupus

An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.


lupus erythematosus panniculitis

A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45.


chilblain lupus 2

Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.


chilblain lupus

A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.


(R)-iclaprim

A 5-[(2-cyclopropyl-7,8-dimethoxy-2H-chromen-5-yl)methyl]pyrimidine-2,4-diamine in which the chiral centre has R configuration.


Angelucci syndrome

Atopic conjunctivitis that is of relatively short duration and that has a rapid onset.


acute conjunctivitis

Acute inflammation of the conjunctiva.


acute contagious conjunctivitis

Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.


Dilated Cardiomyopathy-1D

An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the TNNT2 gene, encoding troponin T, cardiac muscle.


Pancreatic Serous Adenoma

A benign, non-metastasizing, usually cystic epithelial neoplasm arising from the exocrine pancreas.  It is composed of glycogen-rich epithelial cells which produce a watery fluid.  Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss.


Pancreatic Macrocystic Serous Cystadenoma

A benign, non-metastasizing epithelial neoplasm arising from the exocrine pancreas.  It is characterized by the presence of a few large cysts and is composed of glycogen-rich epithelial cells which produce a watery fluid.


Pancreatic Solid Serous Adenoma

A well-circumscribed serous adenoma that is solid and lacks cystic changes.


Von Hippel Lindau Syndrome-Associated Pancreatic Serous Adenoma

A serous adenoma that develops in a patient with Von Hippel-Lindau syndrome.  Usually there are multiple serous adenomas present of the macrocystic type.


Locally Advanced Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


Metastatic Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumor which has spread from its original site of growth to another anatomic site.


Advanced Gastrointestinal Stromal Tumor

A gastrointestinal stromal tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


mitochondrial complex 1 deficiency, nuclear type 16


Vaginal Blue Nevus

A neoplasm that arises from the vagina and is characterized by the proliferation of subepithelial benign dendritic melanocytes.


Charcot-Marie-Tooth disease type 2B

Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.


PIGA Deficiency

An X-linked recessive inherited disorder caused by loss of function mutations in the PIGA gene. It is characterized by deficient GPI-anchor synthesis. Patients may develop somatic paroxysmal nocturnal hemoglobinuria (PNH) or multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2; early infantile epileptic encephalopathy 20; EIEE20).


nystagmus 3, congenital, autosomal dominant


Chest Pain Along Right Upper Sternal Border

The location of the chest pain is along the right upper border of the sternum.


Grade 2 Colonic Fistula, CTCAE

Symptomatic, invasive intervention not indicated


spondylo-ocular syndrome

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.


neurological muscular channelopathy due to a genetic chloride channel defect


Intraoperative skin injury

Damage to the skin during a surgical procedure.


Frostbite

An injury to the skin and/or its underlying tissues that results from exposure of the affected area to extreme cold.


Skin Bruise

Extravasation of blood into the subcutaneous space.


Excoriation

Self-inflicted tearing or wearing off of skin.


polyamino carboxylic acid

An amino acid containing one or more nitrogen atoms connected through carbon atoms to one or more carboxy groups.


juvenile open angle glaucoma

Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.


glaucoma 1, open angle, O

Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene.


low tension glaucoma

A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.


glaucoma 1, open angle, A

Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene.


persistent polyclonal B-cell lymphocytosis

Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.


(S)-ethotoin

The (S)-enantiomer of ethotoin.


(R)-ethotoin

The (R)-enantiomer of ethotoin.


An imidazolidinone with oxo groups at position 2 and 4.


(Z)-imidacloprid

The Z-isomer of imidacloprid.


imidazolidinone

An imidazolidine containing one or more oxo groups.


(S)-(+)-allantoin

An optically active form of allantoin having (S)-(+)-configuration.


(R)-(-)-allantoin

An optically active form of allantoin having (R)-(-)-configuration.


Multinodular Adrenal Hyperplasia

A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules.


Grade 5 Rectal Anastomotic Leak, CTCAE

Death


A N-(long-chain-acyl)ethanolamine that is the ethanolamide of (15Z)-tetracosenoic acid.


oleoyl ethanolamide

An N-(long-chain-acyl)ethanolamine that is the ethanolamide of oleic acid. The monounsaturated analogue of the endocannabinoid anandamide.


palmitoleoyl ethanolamide

An N-acylethanolamine 16:1 that is the ethanolamide of palmitoleic acid.


ovarian lymphoma

A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected.


CYP1B1-related glaucoma with or without anterior segment dysgenesis

Any primary congenital glaucoma in which the cause of the disease is a mutation in the CYP1B1 gene.


hydrophthalmos

Abnormal enlargement of the eye


Unresectable Digestive System Mixed Adenoneuroendocrine Carcinoma

Digestive system mixed adenoneuroendocrine carcinoma that is not amenable to surgical resection.


juvenile polymyositis

An idiopathic inflammatory myopathy of childhood resulting in muscle weakness.


Advanced Pancreatic Neuroendocrine Tumor

A pancreatic neuroendocrine tumor that has spread extensively to other anatomic sites or is no longer responding to treatment.


Pancreatic neuroendocrine tumor metastatic

A neuroendocrine tumor that arises from the islet cells of the pancreas and has spread to another anatomic site.


Advanced Pancreatic Neuroendocrine Tumor G1

Pancreatic neuroendocrine tumor G1 that has spread extensively to other anatomic sites or is no longer responding to treatment.


Metastatic Pancreatic Neuroendocrine Tumor G3

Panreatic neuroendocrine tumor G3 that has spread from its original site of growth to another anatomic site.


Locally Advanced Pancreatic Neuroendocrine Tumor G3

Pancreatic neuroendocrine tumor G3 that has spread from its original site of growth to nearby tissues or lymph nodes.


Metastatic Pancreatic Neuroendocrine Tumor G1

Pancreatic neuroendocrine tumor G1 that has spread from its original site of growth to another anatomic site.


Locally Advanced Pancreatic Neuroendocrine Tumor

A pancreatic neuroendocrine tumor that has spread from its original site of growth to nearby tissues or lymph nodes.


puerperal infection

An infection occurring in puerperium, the period of 6-8 weeks after giving birth.


postpartum psychosis

Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly.


serous cystadenofibroma

A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well.


uterine corpus apoplectic leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives.


ovarian clear cell adenofibroma

An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma.


fibroma of prostate

A fibroma that involves the prostate gland.


uterine corpus cellular leiomyoma

A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern.


oral fibroma

A non-metastasizing oral neoplasm arising from fibrous tissue characterized by the presence of spindle-shaped fibroblasts.


uterine corpus bizarre leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei.


uterine corpus dissecting leiomyoma

A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present.


uterine corpus adenofibroma

A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core.


testicular fibroma

A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization.


ovarian clear cell cystadenofibroma

A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures.


cystadenofibroma

A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue.


adenofibroma

A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported.


clear cell adenofibroma

A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma.


ovarian endometrioid cystadenofibroma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma.


uterine corpus diffuse leiomyomatosis

An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus.


rete ovarii cystadenofibroma

An exceptionally rare cystadenofibroma that arises from the rete ovarii.


ovarian serous adenofibroma

A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma.


uterine corpus lipoleiomyoma

A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm.


serous adenofibroma

A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential.


papillary adenofibroma

A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma.


tendon sheath fibroma

A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation.


fallopian tube serous adenofibroma

A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium.


uterine corpus myxoid leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma.


uterine corpus epithelioid leiomyoma

A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters.


clear cell cystadenofibroma

A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells.


calcified aponeurotic fibroma

A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells.


ovarian serous cystadenofibroma

A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.


fallopian tube cystadenofibroma

A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder.


spastic paraplegia, intellectual disability, nystagmus, and obesity


paraparetic variant of Guillain-Barre syndrome

Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal.


chronic dacryocystitis

Chronic form of dacryocystitis.


Recurrent Prostate Acinar Adenocarcinoma

The reemergence of prostate acinar adenocarcinoma after a period of remission.


Adenocarcinoma of the prostate recurrent

The reemergence of prostate adenocarcinoma after a period of remission.


Recurrent Prostate Small Cell Neuroendocrine Carcinoma

The reemergence of prostate small cell neuroendocrine carcinoma after a period of remission.


Biochemically Recurrent Prostate Carcinoma

Increasing prostate-specific antigen (PSA) following prostatectomy or radiation therapy in a patient with a history of localized prostate carcinoma. Signs of metastasis are absent using the currently available scanning technology.


Grade 3 Phantom Pain Associated with Missing Limb, CTCAE


benzenetriol

A triol in which three hydroxy groups are substituted onto a benzene ring.


procyanidin B3 3'-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'S)-hydroxy group of procyanidin B3.


procyanidin B4 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3S)-hydroxy group of procyanidin B4.


procyanidin B4 3'-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'R)-hydroxy group of procyanidin B4.


eugeniin

An ellagitannin isolated from the dried flower buds of Eugenia caryophyllata. It exhibits alpha-glucosidase inhibitory activity and antiviral activity against acyclovir and phosphonoacetic acid (PAA)-resistant herpes simplex virus type 1 (HSV-1) as well as the wild-type HSV-1.


corilagin

An ellagitannin with a hexahydroxydiphenoyl group bridging over the 3-O and 6-O of the glucose core.


procyanidin B2 3'-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'R)-hydroxy group of procyanidin B2.


procyanidin B1 3'-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'S)-hydroxy group of procyanidin B1.


procyanidin B3 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3S)-hydroxy group of procyanidin B3.


theasinensin A

A biflavonoid that is obtained by coupling of two molecules of (-)-epigallocatechin 3-gallate resulting in a bond between positions C-2 of the hydroxyphenyl ring. It is a natural product found in oolong tea.


macabarterin

A ellagitannin isolated  from the stem bark of Macaranga barteri and has been shown to exhibit anti-inflammatory activity.


procyanidin B1 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3R)-hydroxy group of procyanidin B1.


procyanidin B2 3-O-gallate

A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3R)-hydroxy group of procyanidin B2.


A gallate ester obtained by formal condensation of the carboxy group of gallic acid with the (3'R)-hydroxy group of (-)-epicatechin-(4alpha->8)-(-)-epicatechin.


developmental and epileptic encephalopathy, 77


multiple congenital anomalies-hypotonia-seizures syndrome 3

A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.


multiple congenital anomalies-hypotonia-seizures syndrome 2

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.


Cranial Nerve II Palsy

Partial or complete paralysis of the optic nerve.


Non-Neoplastic Optic Nerve Disorder

A non-neoplastic disorder that affects the optic nerve.


Unilateral Optic Nerve Hypoplasia

A congenital abnormality characterized by the underdevelopment of one optic nerve.


steroid sulfate

A sulfuric ester obtained by the formal condensation of a hydroxy group of any steroid with sulfuric acid.


cataract 33

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.


Grade 1 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Generalized or Specific Area Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Lower Extremity Muscle Weakness, CTCAE Not Due to Neuropathy


Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Upper Extremity Muscle Weakness, CTCAE Not Due to Neuropathy


Grade 1 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Trunk Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Extraocular Muscle Weakness Not Due to Neuropathy, CTCAE


Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Upper Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Whole Body and Generalized Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Facial Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 1 Left-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 4 Lower Extremity Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Pelvic Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 2 Ocular Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 5 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Grade 3 Right-Sided Muscle Weakness Not Due to Neuropathy, CTCAE


Multiple Solitary Plasmacytoma of Bone

The presence of more than one plasmacytoma arising in the bone, concurrently or sequentially, in the absence of bone marrow involvement by plasma cell myeloma.


chlorocycloalkane

A chlorohydrocarbon that is any cycloalkane substituted by at least one chloro group.


chlorocyclohexane

Any chlorocycloalkane that is cyclohexane substituted by at least one chlorine group.


Disrupted Suture

The loss of tension or continuity of sutures.


ovarian microcystic stromal tumor

A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma.


benign ovarian sex cord-stromal tumor

A sex cord-stromal tumor arising from the ovary, without metastatic potential.


ovarian fibrothecoma

A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad).


phyllodes tumor

A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.


prostate phyllodes tumor

An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma.


Borderline Vulvar Phyllodes Tumor

A rare borderline phyllodes tumor arising from the vulva.


benign prostate phyllodes tumor

A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells.


Refractory Malignant Phyllodes Tumor

Malignant phyllodes tumor that is resistant to treatment.


Phyllodes Tumor of Anogenital Mammary-Type Glands

A rare phyllodes tumor that arises from mammary-like glands in the anogenital region.


Malignant Vulvar Phyllodes Tumor

A rare malignant phyllodes tumor arising from the vulva.


benign phyllodes tumor

A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features.


malignant phyllodes tumor

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


Benign Vulvar Phyllodes Tumor

A rare benign phyllodes tumor arising from the vulva.


Childhood Breast Phyllodes Tumor

A phyllodes tumor that arises from the breast and occurs during childhood.


Vulvar Phyllodes Tumor

A rare benign, borderline, or malignant phyllodes tumor arising from the vulva.


Borderline phyllodes tumor

A phyllodes tumor with morphologic characteristics which are intermediate between a benign and a malignant phyllodes tumor. The stromal sarcomatous changes are of low grade and are often reminiscent of low grade fibrosarcomas.


malignant prostate phyllodes tumor

An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia.


megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


paternal uniparental disomy of chromosome 7

Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).


Injury to stomach with open wound into cavity

Trauma to the stomach associated with a break in the tissue that extends into the abdominal cavity.


spindle cell neoplasm

A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells.


ciliary body spindle cell melanoma

A spindle cell melanoma that involves the ciliary body.


spindle cell lipoma

A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity.


iris spindle cell melanoma

A spindle cell melanoma that involves the iris.


desmoplastic melanoma

A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion.


malignant spindle cell neoplasm

A malignant neoplasm characterized by the presence of atypical spindle cells.


spindle cell melanoma

A melanoma characterized by the presence of malignant spindle-shaped melanocytes.


spindle cell intraocular melanoma

A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes.


Complex Endometrial Hyperplasia with Atypia

A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures.  It is associated with cytologic atypia and an increased risk of endometrial adenocarcinoma.


Ampulla of Vater Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor

A well differentiated neuroendocrine tumor that arises from the ampulla of Vater and the periampullary region.  It produces serotonin.


gonococcal cystitis

An cystitis caused by infection with Neisseria gonorrhoeae.


acute gonococcal cystitis

Acute form of gonococcal cystitis.


amine

A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.


(S)-clenbuterol

The (S)-enantiomer of clenbuterol.


A member of the class of  propanolamines that is propane with a hydroxy substituent at C-1 and an amino substituent at C-2, making it both a primary amine and a primary alcohol.


(R)-dobutamine

The (R)-enantiomer of dobutamine.


A tautomer of pyrrole that has the double bonds at positions 2 and 4.


enamine

An amine RNR'R'' where R has a double bond adjacent to the amine nitrogen.


(S)-diethylpropion

The (S)-enantiomer of amfepramone.


secondary amine

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


A propanoate ester that is propyl propanoate substituted by a benzyl and phenyl group at position 1, a methyl group at position 2 and a dimethylamino group at position 3.


primary arylamine

A primary amine formally derived from ammonia by replacing one hydrogen atom by an aryl group. R-NH2 where R is an aryl group.


aralkylamine

An alkylamine in which the alkyl group is substituted by an aromatic group.


alkylamine

Any primary amine in which the substituent attached to nitrogen is an alkyl group.


(R)-clenbuterol

The (R)-enantiomer of clenbuterol.


A member of the class of cyclopropanes carrying amino and phenyl substituents at positions 1 and 2 respectively.


amino fatty acid

A fatty acid containing at least one amino substituent.


omega-amino fatty acid

Any fatty acid n atoms long having an amino substituent at position n (omega).


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.


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.


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.


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.


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)


Grade 1 Atrial Tachycardia or Paroxysmal Atrial Tachycardia, CTCAE


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.


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.


Cyst of nasal cavity

An epithelium-lined cyst in the nasal cavity.


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.


Probable Acute COVID-19 Case

A presumed acute COVID-19 infection as evidenced by detection of SARS-CoV-2 by antigen test in a respiratory specimen, by meeting clinical criteria and epidemiological linkage criteria for COVID-19 with no confirmatory laboratory testing performed, or by a death certificate that lists COVID-19 disease or SARS-CoV-2 as an underlying cause of death or a significant condition contributing to death with no confirmatory laboratory evidence of SARS-CoV-2.


Pulmonary Thromboembolic Disease Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Intravascular migration of a venous embolus to the pulmonary arterial circulation, microvascular thrombosis in the pulmonary capillaries, or pulmonary artery thrombus in situ diagnosed by a positive pulmonary angiogram, an unequivocally positive helical CT scan, a high-probability ventilation-perfusion scan, or autopsy that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Post-Acute Cardiovascular Sequelae of COVID-19

Cardiovascular sequelae persisting weeks or months after SARS-CoV-2 infection.


Supraventricular Tachyarrhythmia Other than Atrial Fibrillation or Atrial Flutter Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Supraventricular tachycardia other than atrial fibrillation or atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Ischemic Cardiomyopathy Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Reduced left ventricular function with less than 50% ejection fraction in a patient with history of suspected or confirmed myocardial ischemia or acute coronary syndrome (ACS) that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Atrial Flutter Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Atrial flutter in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


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.


Pericarditis Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Pericarditis that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Confirmed Acute COVID-19 Case

An acute COVID-19 infection that is verified by detection of SARS-CoV-2 RNA in a clinical or autopsy specimen using a molecular amplification test (e.g., RT-PCR).


severe acute respiratory syndrome

A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.


Pericardial Effusion Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Pericardial effusion that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Atrial Fibrillation Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Atrial fibrillation in a patient without prior history of atrial tachyarrhythmias that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Severe COVID-19 Infection

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized, requires respiratory support, and may also require additional organ support including vasopressor therapy, renal replacement therapy, or extracorporeal membrane oxygenation. (based on WHO COVID-19 Disease Severity 5, 6 and 7)


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.


Cardiac Structural Abnormalities Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Cardiac structural changes or abnormalities characterized by myocardial systolic dysfunction or myocardial edema or fibrosis on non-invasive cardiac imaging that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


New-onset Heart Failure Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

New onset of heart failure with a clinical syndrome of dyspnea, fatigue, fluid retention/peripheral edema that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Suspected Acute COVID-19 Case

A likely acute COVID-19 infection as evidenced by detection of specific antibody in serum, plasma, or whole blood, or detection of specific antigen by immunocytochemistry in an autopsy specimen.


Prior COVID-19 Infection With Residual Sequelae of Post-Acute COVID-19

A finding indicating that there is prior evidence of COVID-19 in an individual who has residual sequelae of post-acute COVID-19.


Moderate COVID-19 Infection

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is hospitalized and may require oxygen therapy. (based on WHO COVID-19 Disease Severity 3 and 4)


Prior COVID-19 Infection Without Residual Sequelae of Post-Acute COVID-19

A finding indicating that there is prior evidence of COVID-19 in an individual who has no residual sequelae of post-acute COVID-19.


Mild COVID-19 Infection

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) where the individual is still ambulatory but may have limitation of their activities. (based on WHO COVID-19 Disease Severity 1 and 2)


Neurovascular Disorder Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

A disorder of the nervous system related to a vascular etiology that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Deep Venous Thrombosis Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Formation of multiple thrombi in the large veins of the body, diagnosed with Doppler ultrasound, occurring most frequently in lower extremities or upper extremities, that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


COVID Reinfection

A new, discrete episode of acute COVID-19 in an individual with a prior history of probable/confirmed COVID-19.


Non-Ischemic Cardiomyopathy Associated with Post-Acute Sequelae of SARS-CoV-2 Infection

Reduced left ventricular function with less than 50% ejection fraction but without evidence of myocardial ischemia that started during probable or confirmed acute COVID-19 and persisted beyond four weeks after the initial diagnosis of COVID-19.


Current Seasonal Coronavirus Infection

Seasonal coronavirus infection is evident at the time of testing.


Prior COVID-19 Infection

A finding indicating that there is prior evidence of COVID-19 in an individual who is no longer in the infectious period.


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.


Pancreatic Well Differentiated Ductal Adenocarcinoma

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


Stage M3 Pineoblastoma

Gross nodular seeding is detected in the spinal subarachnoid space. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.)


Grade 3 CPK Increased, CTCAE

>5 x ULN-10 x ULN


(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.


Grade 1 Pharynx Mucositis or Stomatitis by Functional or Symptomatic Classification, CTCAE


Childhood Cutaneous Melanoma

A rare melanoma of the skin that occurs during childhood.


Grade 4 Trachea Obstruction and Stenosis, CTCAE


Supraventricular Extrasystoles, CTCAE

An adverse event characterized by premature atrial contractions of the heart caused by signals originating from ectopic atrial sites or the atrioventricular node.


Grade 3 Supraventricular Extrasystoles, CTCAE


Grade 4 Supraventricular Extrasystoles, CTCAE


Grade 2 Supraventricular Extrasystoles, CTCAE


Grade 5 Supraventricular Extrasystoles, CTCAE


Grade 1 Supraventricular Extrasystoles, CTCAE


Grade 4 Other Musculoskeletal and Soft Tissue, CTCAE


skin sensitivity to sun

The response of human skin to sun exposure.


photoallergic dermatitis

A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.


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.


microcephaly 9, primary, autosomal recessive

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


Hematopoietic System Finding

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.


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.


Monoclonal B-Lymphocytes Less Than 5 x 10^9/L in Peripheral Blood

A finding indicating the presence of less than 5 x 10^9/L monoclonal B-lymphocytes in peripheral blood.


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.


Alloimmune platelet transfusion refractoriness

An indication that platelet counts were not increased following one or more transfusions.


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.


Monoclonal B-Lymphocytes More Than 5 x 10^9/L in Peripheral Blood

A finding indicating the presence of more than 5 x 10^9/L monoclonal B-lymphocytes in peripheral blood.


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.


leukemoid reaction

A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.