Dbf4-dependent protein kinase complex

description: A heterodimeric protein complex required for the activation of DNA replication origins; comprises a catalytic subunit and a regulatory subunit (in Saccharomyces, Cdc7p and Dbf4p, respectively); complexes identified in other species generally contain proteins related to the Saccharomyces proteins.


Gin4 complex

category: biolink:CellularComponent biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: A protein complex involved in septin ring formation during mitosis. In Saccharomyces cerevisiae it consists of BNI5, CDC3, CDC10, CDC11, CDC12, GIN4, NAP1 and SHS1. At least 2 GIN4 molecules are involved.


protein kinase CK2 complex

description: A protein complex that possesses protein serine/threonine kinase activity, and contains two catalytic alpha subunits and two regulatory beta subunits. Protein kinase CK2 complexes are found in nearly every subcellular compartment, and can phosphorylate many protein substrates in addition to casein.


DAPK1-calmodulin complex

description: A serine/threonine protein kinase complex involved in cell survival, apoptosis and autophagic cell death pathways. DAPK1 is activated by the dephosphorylation of a n-terminal serine and calcium-calmodulin binding.


cyclin D1-CDK6 complex

description: A protein complex consisting of cyclin D1 and cyclin-dependent kinase 6 (CDK6). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


Ire1 complex

description: A type-I transmembrane protein complex located in the endoplasmic reticulum (ER) consisting of an IRE1-IRE1 dimer, which forms in response to the accumulation of unfolded protein in the ER. The dimeric complex has endoribonuclease (RNase) activity and evokes the unfolded protein response (UPR) by cleaving an intron of a mRNA coding for the transcription factor HAC1 in yeast or XBP1 in mammals; the complex cleaves a single phosphodiester bond in each of two RNA hairpins (with non-specific base paired stems and loops of consensus sequence CNCNNGN, where N is any base) to remove an intervening intron from the target transcript.


cyclin A1-CDK2 complex

description: A protein complex consisting of cyclin A1 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


MPF complex

description: A complex consisting of a Cdc2-class (also known as Cdc28) cyclin-dependent kinase and an M-phase cyclin such as S. pombe Cdc13. The MPF complex phosphorylates and activates the anaphase promoting complex (APC).


cyclin E2-CDK2 complex

description: A protein complex consisting of cyclin E2 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin A1-CDK1 complex

description: A protein complex consisting of cyclin A1 and cyclin-dependent kinase 1 (CDK1). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


DNA-dependent protein kinase complex

description: A protein complex that is involved in the repair of DNA double-strand breaks and, in mammals, V(D)J recombination events. It consists of the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) and the DNA end-binding heterodimer Ku.


PAR polarity complex

description: A protein kinase complex that is required for the establishment of a cell polarity axis during the cell division cycle. Binds directly to activated CDC42 GTPase and is required for orchestrating a cellular gradient of CDC42. In S. cerevisiae components are: BEM1, CDC24 and CLA4; from worms to vertebrates it contains a PAR6 protein, PAR3 protein and an atypical PKC.


CTDK-1 complex

description: A positive transcription elongation factor complex that comprises the CDK kinase CTK1 (in budding yeast), Lsk1 (in fission yeast) (corresponding to the Panther PTHR24056:SF39 family), a cyclin and an additional gamma subunit (corresponding to the InterPRO entry IPR024638).


cyclin A2-CDK2 complex

description: A protein complex consisting of cyclin A2 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


CKM complex

description: Cyclin-dependent kinase complex which reversibly associates with the Mediator complex. In Saccharomyces cerevisiae it consists of SSN2, SSN3, SSN8 and SRB8.


cyclin B1-CDK1 complex

description: A protein complex consisting of cyclin B1 and cyclin-dependent kinase 1 (CDK1). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin D1-CDK4 complex

description: A protein complex consisting of cyclin D1 and cyclin-dependent kinase 4 (CDK4). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


Pho85-Pho80 CDK-cyclin complex

description: A cyclin dependent kinase (CDK) complex that contains a kinase subunit and a regulatory cyclin subunit. An example of this complex in budding yeast S. cerevisiae consists of the Pho85 kinase and the Pho80 cyclin.


cyclin D3-CDK6 complex

description: A protein complex consisting of cyclin D3 and cyclin-dependent kinase 6 (CDK6). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


ABIN2-NFKB1-MAP3K8 complex

description: A protein complex that contains the precursor form of NF-kappaB (p105), the NF-kappaB inhibitor ABIN-2, and the kinase TPL-2 (MAP3K8); the complex stabilizes TPL-2 and is involved in signaling in lipopolysaccharide (LPS)-stimulated macrophages.


cyclin B2-CDK1 complex

description: A protein complex consisting of cyclin B2 and cyclin-dependent kinase 1 (CDK1). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin A2-CDK1 complex

description: A protein complex consisting of cyclin A2 and cyclin-dependent kinase 1 (CDK1). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin D2-CDK4 complex

description: A protein complex consisting of cyclin D2 and cyclin-dependent kinase 4 (CDK4). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


cyclin E1-CDK2 complex

description: A protein complex consisting of cyclin E1 and cyclin-dependent kinase 2 (CDK2). Cyclins are characterized by periodicity in protein abundance throughout the cell cycle. Cyclin-dependent kinases represent a family of serine/threonine protein kinases that become active upon binding to a cyclin regulatory partner.


polydactyly, postaxial, type A2

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


erythromycin catabolic process

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

description: The chemical reactions and pathways resulting in the breakdown of erythromycin.


polyketide catabolic process

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


F-9775A catabolic process

description: The chemical reactions and pathways resulting in the breakdown of F-9775A.


granaticin catabolic process

description: The chemical reactions and pathways resulting in the breakdown of granaticin.


aspyridone A catabolic process

description: The chemical reactions and pathways resulting in the breakdown of aspyridone A.


aspyridone B catabolic process

description: The chemical reactions and pathways resulting in the breakdown of aspyridone B.


fonsecin catabolic process

description: The chemical reactions and pathways resulting in the breakdown of fonsecin.


F-9775B catabolic process

description: The chemical reactions and pathways resulting in the breakdown of F-9775B.


averantin catabolic process

description: The chemical reactions and pathways resulting in the breakdown of averantin.


oxytetracycline catabolic process

description: The chemical reactions and pathways resulting in the breakdown of oxytetracycline.


Cranial Nerve II Palsy

description: Partial or complete paralysis of the optic nerve.


Non-Neoplastic Optic Nerve Disorder

description: A non-neoplastic disorder that affects the optic nerve.


Unilateral Optic Nerve Hypoplasia

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


peptidyl-histidine hydroxylation

description: The hydroxylation of peptidyl-histidine to form peptidyl-hydroxyhistidine.


steroid sulfate

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


cellular response to inositol

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


agmatine deiminase activity

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

description: Catalysis of the reaction: agmatine + H2O = N-carbamoylputrescine + NH3.


cataract 33

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


3'-deoxyribose phosphate lyase activity

description: Catalysis of the conversion of a 3'-deoxyribose phosphate in DNA to a 3'-phosphate.


umbilical cord blood

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

description: Blood that remains in the placenta and in the attached umbilical cord after childbirth[WP].


capillary blood

description: A blood that is part of a capillary.


venous blood

description: A blood that is part of a vein.


arterial blood

description: A blood that is part of a artery.


placental blood

description: Blood located in the placenta.


rib of vertebra 8

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

description: Rib that articulates with the parapophysis of the eighth centrum.


mammary gland cord morphogenesis

description: The process in which anatomical structures of the mammary gland cord are generated and organized. Mammary gland cords form when the mammary gland bud invades the mammary fat.


neuronal dense core vesicle membrane

description: The lipid bilayer surrounding a neuronal dense core vesicle.


Multiple Solitary Plasmacytoma of Bone

description: 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.


cricothyroid muscle

description: Intrinsic muscle of the larynx, innervated by the external division of the laryngeal nerve, a branch of the vagus nerve. It attaches to the anterolateral surface of the cricoid cartilage and the external surface of the thyroid cartilage.


superficial inguinal ring

description: The exit of the inguinal canal.


levator ani muscle

description: The Levator ani is a broad, thin muscle, situated on the side of the pelvis. It is attached to the inner surface of the side of the lesser pelvis, and unites with its fellow of the opposite side to form the greater part of the floor of the pelvic cavity. It supports the viscera in pelvic cavity, and surrounds the various structures which pass through it. In combination with the Coccygeus muscle, it forms the pelvic diaphragm. [WP,unvetted].


aryepiglotticus muscle

description: The aryepiglotticus is a muscle of the larynx running in the aryepiglottic fold from the arytenoid cartilage to the epiglottis.


sphincter colli superficialis muscle

description: The sphincter colli superficialis is composed of transverse muscle fibers, and covers the entire area between the lower jaw and chest. The muscle is used to tighten the skin on the underside of the throat.


dilatator pupillae

description: A smooth muscle of the eye, running radially in the iris that functions as a dilator. [WP,unvetted].


pyramidalis

description: The pyramidalis is a small and triangular muscle, anterior to the Rectus abdominis, and contained in the rectus sheath.


levator labii superioris

description: The levator labii superioris (or quadratus labii superioris) is a broad sheet, the origin of which extends from the side of the nose to the zygomatic bone. Its medial fibers form the angular head, which arises by a pointed extremity from the upper part of the frontal process of the maxilla and passing obliquely downward and lateralward divides into two slips. One of these is inserted into the greater alar cartilage and skin of the nose; the other is prolonged into the lateral part of the upper lip, blending with the infraorbital head and with the Orbicularis oris. The intermediate portion or infraorbital head arises from the lower margin of the orbit immediately above the infraorbital foramen, some of its fibers being attached to the maxilla, others to the zygomatic bone. Its fibers converge, to be inserted into the muscular substance of the upper lip between the angular head and the Caninus. The lateral fibers, forming the zygomatic head, arise from the malar surface of the zygomatic bone immediately behind the zygomaticomaxillary suture and pass downward and medialward to the upper lip. [WP,unvetted].


sternocleidomastoid

description: A paired muscle in the superficial layers of the anterior portion of the neck. It acts to flex and rotate the head. It also acts as an accessory muscle of inspiration, along with the scalene muscles of the neck. [WP,unvetted].


platysma

description: The platysma is a pharyngeal arch 2 muscle and a superficial facial muscle that participates in oral/pharyngeal behaviors and is innervated by the cervical branch of the facial nerve. It attaches to the mandible and it attaches to the skin of the head, neck, and thoracic region where it is found superficial to the clavicle. Burrows et al. (2011) argue that in hylobatids (and, presumably, other primates) the platysma in the region of the modiolus represents both the cervicale and myoides muscles.


muscle of pelvic diaphragm

description: A muscular partition formed by the levatores ani and coccygei, with which may be included the parietal pelvic fascia on their upper and lower aspects. It separates the pelvic cavity above from the perineal region below.


external intercostal muscle

description: An intercostal muscle that aids in quiet and forced inhalation via elevation of the ribs, and expanding the transverse dimensions of the thoracic cavity.


sternooccipital muscle

description: A muscle organ that has_muscle_insertion a occipital bone and has_muscle_origin a sternum.


crico-arytenoid muscle

description: Cricoarytenoid muscles are muscles that connect the cricoid cartilage and arytenoid cartilage. More specifically, it can refer to: Posterior cricoarytenoid muscle Lateral cricoarytenoid muscle.


psoas muscle

description: A powerful flexor of the thigh at the hip joint (psoas major) and a weak flexor of the trunk and lumbar spinal column (psoas minor). Psoas is derived from the Greek 'psoa', the plural meaning 'muscles of the loin'. It is a common site of infection manifesting as abscess (PSOAS ABSCESS). The psoas muscles and their fibers are also used frequently in experiments in muscle physiology.


abdominal external oblique muscle

description: The lateral abdominal wall muscle that is the most superficial, immediately superficial to the internal oblique.


muscle of larynx

description: The muscles associated with the larynx.


Deep Abdominal Muscle

description: The group of muscles in the torso that are closest to the spine and furthest from the skin such as the psoas muscle and the quadratus lumborum.


zygomaticus minor muscle

description: Facial muscle attached to the modiolus, corner (angle) of the mouth, and zygomatic bone. This muscle is ventral to the zygomaticus minor and dorsal to the platysma muscle. In many mammals this muscle also has an attachment to the cartilage of the external ear, in which case it is called the auriculolabialis inferior. See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980.


craniocervical muscle

description: Any muscle organ that is part of either the head or the neck.


anterior abdominal wall muscle

description: Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus.


thyro-arytenoid

description: The Thyroarytenoid is a broad, thin, muscle which lies parallel with and lateral to the vocal fold, and supports the wall of the ventricle and its appendix. It functions in fine tonal control of the vocal cords.


buccinator muscle

description: The buccinator is a muscle that is attached to the mandible, skin, pterygomandibular raphe and maxilla, and is innervated by Cranial Nerve VII and participates in oropharyngeal behavior.


hyoid muscle

description: One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. The muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized].


psoas major muscle

description: The psoas major is a long fusiform muscle placed on the side of the lumbar region of the vertebral column and brim of the lesser pelvis. It joins the iliacus muscle to form the iliopsoas. In less than 50 per cent of subjects the psoas major is accompanied by the psoas minor. [WP,unvetted].


scalene muscle

description: Any of the three pairs of muscles in the lateral neck, namely the scalenus anterior, scalenus medius, and scalenus posterior. They are innervated by the spinal nerves C4-C8[WP].


cremaster muscle

description: A thin layer of skeletal muscle that envelops the spermatic cord and testis of most male mammals in a series of loops; it is a continuation of the obliquus internus, arising from the inguinal ligament and inserting into the crest of the pubis and into the sheath of the rectus abdominis; it is innervated by the genital branch of the genitofemoral nerve and functions to draw the testis up toward the superficial inguinal ring in response to cold or to stimulation of the nerve;.


zygomaticus major muscle

description: Facial muscle attached to the modiolus, corner (angle) of the mouth, and zygomatic bone. See Diogo 2008; Diogo et al., 2009; Burrows et al.., 2011., also DuBrul, 1980.


psoas minor muscle

description: The psoas minor is a long, slender skeletal muscle that, when present, is placed in front of the psoas major muscle. [WP,unvetted].


scalenus medius

description: The Scalenus medius, the largest and longest of the three scalene muscles, arises from the posterior tubercles of the transverse processes of the lower six cervical vertebræ. It descendes along the side of the vertebral column to insert by a broad attachment into the upper surface of the first rib, between the tubercle and the subclavian groove. The brachial plexus and the subclavian artery pass anterior to it. Because it elevates the upper ribs, the middle scalene muscle is also one of the accessory muscles of respiration. [WP,unvetted].


transversus abdominis muscle

description: The lateral abdominal wall muscle that is deep to the internal oblique.


arytenoid muscle

description: A single muscle, filling up the posterior concave surfaces of the arytenoid cartilages. It arises from the posterior surface and lateral border of one arytenoid cartilage, and is inserted into the corresponding parts of the opposite cartilage. It consists of oblique and transverse parts.


internal anal sphincter

description: The smooth muscle ring, formed by an increase of the circular muscle fibers of the rectum, situated at the upper end of the anal canal, internal to the outer voluntary external anal sphincter.


sphincter pupillae

description: A sphincter muscle that is part of the iris.


internal intercostal muscle

description: An intercostal muscle that aids in forced expiration (quiet expiration is a passive process).


tongue muscle

description: The muscular portion of the tongue.


name: Structure of corrugator supercilii muscle

description: One of two small facial muscles that are located behind the occipitofrontalis and orbicularis oculis muscles, with which they blend, and allow movement of the eyebrows. They originate in the medial superciliary arch and insert into the skin above the middle of the supraorbital margins. They are innervated by the temporal branch of the facial nerve and supplied by branches from the superficial temporal and ophthalmic arteries.


ciliary muscle

description: The ciliary muscle is a ring of smooth muscle in the middle layer of the eye that controls the eye's accommodation for viewing objects at varying distances and regulates the flow of aqueous humour through Schlemm's canal. [WP,unvetted].


Procerus muscle

description: A pyramid-shaped muscle in the face that allows movement of the skin between the eyebrows. It originates on the lower part of the nasal bone and inserts into the frontalis muscle in the forehead. It is innervated by branches of the facial nerve and supplied by the facial artery.


abdominal internal oblique muscle

description: The lateral abdominal wall muscle that is deep to the external oblique and superficial to the transversus.


scalenus posterior

description: The Scalenus posterior (Scalenus posticus), the smallest and most deeply seated of the three Scaleni, arises, by two or three separate tendons, from the posterior tubercles of the transverse processes of the lower two or three cervical vertebræ, and is inserted by a thin tendon into the outer surface of the second rib, behind the attachment of the serratus ventralis. It is occasionally blended with the Scalenus medius. [WP,unvetted].


Coccygeal muscle

description: A muscle of the pelvic diaphragm located posterior the levator ani muscle, which arises from the ischial spine and inserts into the coccyx and lowest area of the sacrum, and functions to raise and support the pelvic floor.


urinary bladder detrusor smooth muscle

description: Bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine[MP].


external anal sphincter

description: The Sphincter ani externus (external anal sphincter) is a flat plane of muscular fibers, elliptical in shape and intimately adherent to the integument surrounding the margin of the anus. [WP,unvetted].


nasal muscle

description: Any muscle organ that is part of an nose.


digastric muscle group

description: A group of muscles (or in some classifications, muscle bellies) that are located under the jaw and attach to the base of the cranium and typically attaches to the hyoid apparatus via a common tendon.


thyroepiglotticus muscle

description: Fibers of the thyroarytenoid muscle that continue to the margin of the epiglottis; it closes the inlet to the larynx.


iliacus muscle

description: The iliacus is a flat, triangular muscle, which fills the iliac fossa. [WP,unvetted].


quadratus lumborum

description: An abdominal muscle that inserts on the last rib and transverse processes of lumbar vertebrae. It is irregular and quadrilateral in shape, and broader below than above.


cutaneous trunci muscle

description: Lying just below the skin, cutaneus trunci is one of very few cutaneus muscles. It composes of a thin sheets of muscle that spred over the body in the superficial fasciae. Their role is to twich the skin to rid of pests etc. Cuteneus muscles are found in all domestic species.


muscle of auditory ossicle

description: A muscle of the tympanic cavity that attaches to an auditory ossicle.


deep inguinal ring

description: The entrance to the inguinal canal.


Superficial Abdominal Muscle

description: Any one of the anterior or anterolateral abdominal wall muscles, including the cremaster muscle, pyramidalis muscle, external oblique, internal oblique, transversus abdominis, and rectus abdominis muscles.


masticatory muscle

description: In humans: Muscles arising in the zygomatic arch that close the jaw. Their nerve supply is masseteric from the mandibular division of the trigeminal nerve. (From Stedman, 25th ed).


Disrupted Suture

description: The loss of tension or continuity of sutures.


ovarian microcystic stromal tumor

description: 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

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


ovarian fibrothecoma

description: 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

description: 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

description: 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

description: A rare borderline phyllodes tumor arising from the vulva.


benign prostate phyllodes tumor

description: 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

description: Malignant phyllodes tumor that is resistant to treatment.


name: Phyllodes Tumor of Anogenital Mammary-Type Glands

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


Malignant Vulvar Phyllodes Tumor

description: A rare malignant phyllodes tumor arising from the vulva.


benign phyllodes tumor

description: 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

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


Benign Vulvar Phyllodes Tumor

description: A rare benign phyllodes tumor arising from the vulva.


Childhood Breast Phyllodes Tumor

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


Vulvar Phyllodes Tumor

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


Borderline phyllodes tumor

description: 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

description: 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.


name: positive regulation of shell calcification

description: Any process that activates or increases the frequency, rate or extent of shell calcification.


name: negative regulation of enamel mineralization

description: Any process that stops, prevents, or reduces the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel.


regulation of shell calcification

description: Any process that modulates the frequency, rate or extent of shell calcification.


name: negative regulation of shell calcification

description: Any process that stops, prevents or reduces the frequency, rate or extent of shell calcification.


name: positive regulation of enamel mineralization

description: Any process that activates or increases the frequency, rate or extent of enamel mineralization, the deposition of calcium salts in tooth enamel.


name: megalencephalic leukoencephalopathy with subcortical cysts 4, remitting


name: paternal uniparental disomy of chromosome 7

description: 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).


name: Injury to stomach with open wound into cavity

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


deferent duct artery

description: An artery in males that provides blood to the vas deferens. The artery usually arises from the anterior trunk of the superior vesical artery. It accompanies the vas deferens into the testis, where it anastomoses with the testicular artery. In this way it also supplies blood to the testis and epididymis. A small branch supplies the ureter[WP].


spindle cell neoplasm

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


ciliary body spindle cell melanoma

description: A spindle cell melanoma that involves the ciliary body.


spindle cell lipoma

description: 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

description: A spindle cell melanoma that involves the iris.


desmoplastic melanoma

description: 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

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


spindle cell melanoma

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


spindle cell intraocular melanoma

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


buccal salivary gland

description: A salivary gland that is part of a cheek.


description: Catalysis of the reaction: heteroglycan + GDP-mannose = (1->3)-alpha-D-mannosylheteroglycan + GDP.


name: Complex Endometrial Hyperplasia with Atypia

description: 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.


name: Ampulla of Vater Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor

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


gonococcal cystitis

description: An cystitis caused by infection with Neisseria gonorrhoeae.


acute gonococcal cystitis

description: Acute form of gonococcal cystitis.


name: endonucleolytic cleaveage between SSU-rRNA and LSU-rRNA of tetracistronic rRNA transcript (SSU-rRNA, LSU-rRNA, 4.5S-rRNA, 5S-rRNA)

description: Endonucleolytic cleavages between the SSU-rRNA and the LSU-rRNA of an rRNA molecule originally produced as a tetracistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, Large Subunit (LSU) the 4.5S rRNA, and the 5S rRNA in that order from 5' to 3' along the primary transcript. These cleavages liberate tRNAs from the polycistronic transcript as well as separating the SSU and LSU containing transcript. Note that the use of the word tetracistronic refers only to the number of mature rRNA molecules which will be produced from the primary transcript and ignores tRNAs that may also be present within the primary transcript.


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.


(R)-dobutamine

The (R)-enantiomer of dobutamine.


PYRROLE

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


(S)-diethylpropion

The (S)-enantiomer of amfepramone.


(+)-TRANYLCYPROMINE

A 2-phenylcyclopropan-1-amine that is the (1S,2R)-enantiomer of tranylcypromine.


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.


levdobutamine

The (S)-enantiomer of dobutamine.


tranylcypromine

A 2-phenylcyclopropan-1-amine that is the (1R,2S)-enantiomer of tranylcypromine.


alkylamine

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


(R)-clenbuterol

The (R)-enantiomer of clenbuterol.


amino fatty acid

A fatty acid containing at least one amino substituent.


R(-)amphetamine

A 1-phenylpropan-2-amine that has R configuration.


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.


name: gallate catabolic process via gallate dioxygenase activity

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


aerobic gallate catabolic process

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


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

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


non-syndromic syndactyly

description: 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

description: 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

description: A synpolydactyly that is not part of a larger syndrome.


polysyndactyly 4

description: 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

description: 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.


name: mesoaxial synostotic syndactyly with phalangeal reduction

description: 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

description: 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

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


syndactyly type 8

description: 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

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


syndactyly type 3

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


chalcone biosynthetic process

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


name: familial avascular necrosis of femoral head

description: 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.


name: outer renal medulla peritubular capillary

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


peritubular capillary

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


renal cortex peritubular capillary

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


name: Advanced Malignant Small Intestinal Neoplasm

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


name: Malignant neoplasm of small intestine, incl duodenum metastatic

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


name: Locally Advanced Small Intestinal Carcinoma

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


name: Advanced Small Intestinal Small Cell Neuroendocrine Carcinoma

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


name: Small intestine adenocarcinoma metastatic

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


name: Advanced Small Intestinal Neuroendocrine Carcinoma

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


name: Locally Advanced Small Intestinal Adenocarcinoma

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


name: Advanced Small Intestinal Large Cell Neuroendocrine Carcinoma

description: 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

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


name: Metastatic Small Intestinal Neuroendocrine Carcinoma

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


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


myopathy caused by variation in GMPPB

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


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


name: autosomal recessive limb-girdle muscular dystrophy type 2T

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


hexadecanal metabolic process

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


hexadecanal biosynthetic process

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


name: COX deficiency, benign infantile mitochondrial myopathy

description: A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.


cytochrome-c oxidase deficiency disease

description: 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.


name: ENSAT Stage III Adrenal Cortical Carcinoma

description: 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)


name: Adrenal Cortical Carcinoma by ENSAT Stage

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


name: ENSAT Stage I Adrenal Cortical Carcinoma

description: 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)


name: ENSAT Stage II Adrenal Cortical Carcinoma

description: 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)


name: ENSAT Stage IV Adrenal Cortical Carcinoma

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


plasma membrane-derived photosystem I

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


negative regulation of TORC2 signaling

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


regulation of TORC2 signaling

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


positive regulation of TORC2 signaling

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


Dsc E3 ubiquitin ligase complex

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


non-intein-mediated protein splicing

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


name: Open fracture of carpal bone, unspecified

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


Closed fracture of carpal bone

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


internal genitalia morphogenesis

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


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


name: trichorhinophalangeal syndrome, type III

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


name: round cell sarcoma with EWSR1-NFATC2 gene fusion

description: A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion.


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

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


peptidoglycan turnover

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


galactosaminoglycan metabolic process

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


peptidoglycan biosynthetic process

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


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

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


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

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


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


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

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


peptidoglycan-protein cross-linking

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


Cyst of nasal cavity

description: An epithelium-lined cyst in the nasal cavity.


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


name: autosomal dominant nonsyndromic hearing loss 65

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


saccharopine oxidase activity

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


Probable Acute COVID-19 Case

description: 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.


Coronavinae infectious disease

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


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

description: 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.


name: Post-Acute Cardiovascular Sequelae of COVID-19

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


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

description: 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.


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

description: 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.


long COVID-19

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


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

description: 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.


name: Symptomatic COVID-19 Infection Laboratory-Confirmed

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


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

description: 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

description: 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).


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


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

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


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

description: 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

description: 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)


name: Asymptomatic COVID-19 Infection Laboratory-Confirmed

description: 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

description: 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.


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

description: 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.


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

description: 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

description: 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.


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

description: 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

description: 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)


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

description: 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

description: 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)


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

description: 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.


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

description: 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

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


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

description: 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

description: Seasonal coronavirus infection is evident at the time of testing.


Prior COVID-19 Infection

description: 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

description: Chromosomal disorder in which chromosome Y is affected.


isochromosomy Yq

description: 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

description: 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

description: 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

description: 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

description: 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

description: 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

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


polygalacturonase activity

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


non-replicative DNA transposition

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


replicative DNA transposition

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


name: Pancreatic Well Differentiated Ductal Adenocarcinoma

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


Stage M3 Pineoblastoma

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


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


cellular response to iron(II) ion

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


regulation of chemorepellent activity

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


name: negative regulation of chemorepellent activity

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


name: positive regulation of chemorepellent activity

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


(R,R)-asenapine

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


name: secretory dimeric IgA immunoglobulin complex

description: A dimeric form of secretory IgA immunoglobulin complex.


name: negative regulation of TRAIL-activated apoptotic signaling pathway

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


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

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


Childhood Cutaneous Melanoma

description: A rare melanoma of the skin that occurs during childhood.


photosystem I antenna complex

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


salt aversion

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


larval feeding behavior

description: Feeding behavior in a larval (immature) organism.


nematode pharyngeal pumping

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


metanephric glomerular endothelium

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


metanephric glomerular epithelium

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


name: poly(hydroxyalkanoate) biosynthetic process from glucose

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


name: poly(hydroxyalkanoate) biosynthetic process from fatty acid

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


skin sensitivity to sun

description: The response of human skin to sun exposure.


acromelanosis

description: 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.


name: temperature-sensitive oculocutaneous albinism type 1

description: 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).


name: hyperpigmentation, progressive cribriform and zosteriform


description: 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

description: 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.


description: 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.


name: minimal pigment oculocutaneous albinism type 1

description: 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

description: 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

description: 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.


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


name: deaf blind hypopigmentation syndrome, Yemenite type

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


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

description: 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

description: 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

description: 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

description: 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

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


albinism-hearing loss syndrome

description: 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

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


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

description: 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

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


Hermansky-Pudlak syndrome 9

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


Dowling-Degos disease 4

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


oculocutaneous albinism type 7

description: 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

description: 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.


name: dyschromatosis universalis hereditaria 1


Hermansky-Pudlak syndrome 8

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


Griscelli syndrome

description: 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

description: 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

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


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


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


Hermansky-Pudlak syndrome 10

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


name: osteopathia striata-pigmentary dermopathy-white forelock syndrome

description: 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

description: 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.


name: autosomal dominant oculocutaneous albinism

description: Autosomal dominant form of oculocutaneous albinism.


name: piebald trait-neurologic defects syndrome

description: 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.


name: oculocerebral hypopigmentation syndrome, Cross type

description: 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

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


name: deafness, congenital, with total albinism


name: dyschromatosis universalis hereditaria 2


syndromic oculocutaneous albinism

description: A oculocutaneous albinism that is part of a larger syndrome.


name: hyperpigmentation with or without hypopigmentation, familial progressive


oculocutaneous albinism type 3

description: 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

description: 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

description: 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.


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

description: 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

description: 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.


name: dyschromatosis universalis hereditaria 3

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


name: familial progressive hyper- and hypopigmentation

description: 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.


description: 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

description: 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

description: 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

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


Dowling-Degos disease 1

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


name: linear and whorled nevoid hypermelanosis

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


telomeric D-loop binding

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


name: microcephaly 9, primary, autosomal recessive

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


detection of parasitic plant

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


detection of fungus

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


detection of symbiont

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


detection of molecule of fungal origin

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


detection of yeast

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


detection of symbiotic bacterium

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


detection of protozoan

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


name: detection of molecule of oomycetes origin

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


detection of nematode

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


detection of muramyl dipeptide

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


detection of lipoteichoic acid

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


detection of oomycetes

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


detection of insect

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


polyketide biosynthetic process

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


fonsecin biosynthetic process

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


aspyridone A biosynthetic process

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


mevastatin biosynthetic process

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


erythromycin biosynthetic process

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


fumigermin biosynthetic process

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


oxytetracycline biosynthetic process

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


zearalenone biosynthetic process

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


tetracycline biosynthetic process

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


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


averantin biosynthetic process

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


(M)-viriditoxin biosynthetic process

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


granaticin biosynthetic process

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


ilicicolin H biosynthetic process

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


aspyridone B biosynthetic process

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


epothilone biosynthetic process

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


ansamycin biosynthetic process

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


F-9775A biosynthetic process

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


patulin biosynthetic process

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


macrolide biosynthetic process

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


mRNA branch site recognition

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


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

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

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


Hematopoietic System Finding

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

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


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

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


name: Blasts Under 20,000 in Peripheral Blood White Cells

description: 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.


name: Blasts Under 25 Percent of Bone Marrow Nucleated Cells

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


Platelet Count Less Than 150x10^9/L

description: A semiquantitative hemocytometry finding indicating the presence of less than 150 billion platelets per liter of blood.


name: Myeloblasts 1 Percent or Less of Peripheral Blood White Cells

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


name: Blasts 20-30 Percent of Bone Marrow Nucleated Cells

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


B-cell aplasia

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


name: Blasts Expressing T-Lymphoid and Myeloid Markers Present

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


name: Lymphoblasts More Than 50 Percent of Bone Marrow Nucleated Cells

description: 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.


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

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


name: Blasts 30 Percent or More of Bone Marrow Nucleated Cells

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


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

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


name: Myeloblasts Under 5 Percent of Bone Marrow Nucleated Cells

description: 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.


name: Blasts More than 10 Percent of Bone Marrow Nucleated Cells

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


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

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


name: Myeloblasts 5 Percent or More of Peripheral Blood White Cells

description: 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.


name: Blasts 6-24 Percent of Bone Marrow Nucleated Cells

description: 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.


name: Myeloblasts 5-9 Percent of Bone Marrow Nucleated Cells

description: 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.


name: Monoblasts 80 Percent or More of Bone Marrow Monocytic Cells

description: 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

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


name: Megakaryoblasts 50 Percent or More of Bone Marrow Nucleated Cells

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


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

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


name: Lymphoblasts 25 Percent or Less of Bone Marrow Nucleated Cells

description: 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.


name: Blasts 20 Percent or More of Bone Marrow Nucleated Cells

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


name: Blasts 5-9 Percent of Bone Marrow Nucleated Cells

description: 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.


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

description: 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


name: Blasts Expressing CD56 and Immature T-Cell Markers Present

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


Circulating Tumor Cells Positive

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


name: Blasts More than 60 Percent of Bone Marrow Nucleated Cells

description: 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

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


name: Absolute Neutrophil Count Greater than or Equal to 500/mm3

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


name: Eosinophilia Greater than 1500 cells per Microliter

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


Eosinophilopenia

description: Abnormally low level of eosinophils in the blood.