distal interphalangeal joint of digit 5

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

A distal interphalangeal joint that is part of a digit 5.


synovial joint

Joint in which the articulating bones or cartilages are connected by an articular capsule which encloses a synovial membrane and a synovial cavity. Examples: Temporomandibular joint, knee joint.[FMA].


humeroulnar joint

The humeroulnar joint, is part of the elbow-joint or the Olecron Joint, between the ulna and humerus bones is the simple hinge-joint, which allows for movements of flexion, extension and circumduction. The Humero-Ulnar Joint is the junction of trochlear notch of the ulna and the trochlea of the humerus. Owing to the obliquity of the trochlea of the humerus, this movement does not take place in the antero-posterior plane of the body of the humerus. When the forearm is extended and supinated, the axis of the arm and forearm are not in the same line; the arm forms an obtuse angle with the forearm. During flexion, however, the forearm and the hand tend to approach the middle line of the body, and thus enable the hand to be easily carried to the face. The accurate adaptation of the trochlea of the humerus, with its prominences and depressions, to the semilunar notch of the ulna, prevents any lateral movement. Flexion is produced by the action of the Biceps brachii and Brachialis, assisted by the Brachioradialis, with a tiny contribution from the muscles arising from the medial epicondyle of the humerus. Extension is produced by the Triceps brachii and AnconC&us, with a tiny contribution from the muscles arising from the lateral epicondyle of the humerus, such as the Extensor digitorum communis.


interphalangeal joint of pedal digit 1

An interphalangeal joint of pes that is part of a pedal digit 1.


distal interphalangeal joint of digit 3

A distal inter-phalangeal joint that is part of the 3rd digit.


metacarpophalangeal joint of manual digit 2

A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 2.


distal interphalangeal joint of pedal digit 4


intraramal joint

A joint in the lower jaw that enhances kinesis and for swallowing prey. Allows enhanced mobility and intraramal bending to increase gape.


femorotibial joint

One of the two primary bendings of a typical leg, pertains to the femur and the tibia.


metacarpophalangeal joint

The metacarpophalangeal joints (MCP) are of the condyloid kind, formed by the reception of the rounded heads of the metacarpal bones into shallow cavities on the proximal ends of the first phalanges, with the exception of that of the thumb, which presents more of the characters of a ginglymoid joint. Arthritis of the MCP is a distinguishing feature of Rheumatoid Arthritis, as opposed to the distal interphalangeal joint in osteoarthritis. [WP,unvetted].


intermetacarpal joint

A skeletal joint that connects two adjacent metacarpals[FMA,modified].


distal interphalangeal joint of pedal digit 3

A distal inter-phalangeal joint that is part of the 3rd pedal digit.


tarsometatarsal joint

The tarsometatarsal articulations are arthrodial joints in the pes.


distal interphalangeal joint of manural digit 5


metatarsophalangeal joint

The metatarsophalangeal articulations are the joints between the metatarsal bones of the foot and the proximal bones of the toes . They are condyloid joints meaning an elliptical or rounded surface (of the metatarsal bones) come close to the shallow cavities (of the proximal phalanges). The ligaments are the plantar and two collateral.


costotransverse joint

The facet of the tubercle of the rib forms an articulation with the adjacent transverse process of a thoracic vertebra. This is a plane type synovial joint called the costotransverse joint. This articulation is present in all but the eleventh and twelfth ribs. Ribs 1 to 10 have two joints in close proximity posteriorly; the costovertebral joints and the costotranseverse joints. This arrangement restrains the motion of the ribs allowing them to work in a parallel fashion during breathing. If a typical rib had only one joint posteriorly the resultant swivel action would allow a rib to be non-parallel with respect to the neighboring ribs making for a very inefficient respiratory mechanism. The ventral rami innervate the costotransverse joints. Therefore, therapeutic medial branch blocks are ineffectual. The ligaments of the joint are: Articular capsule Posterior costotransverse Anterior costotransverse Ligament of the neck of the rib Ligament of the tubercle of the rib.


pes joint

A skeletal joint that is part of a pes [Automatically generated definition].


crurotarsal joint

A joint that connects the bones of the crus to the proximal tarsal bones.


distal interphalangeal joint

An inter-phalangeal joint that connects a distal phalanx to either a medial or proximal phalanx.


metatarsophalangeal joint of pedal digit 5

A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 5.


interphalangeal joint of pes

The interphalangeal articulations of the foot (articulations of the phalanges) are ginglymoid joints, and each has a plantar and two collateral ligaments. The arrangement of these ligaments is similar to that in the metatarsophalangeal articulations: the Extensor tendons supply the places of dorsal ligaments.


synovial joint of pelvic girdle

A synovial joint that is part of a pelvic girdle region.


interphalangeal joint of pedal digit 4

An interphalangeal joint of pes that is part of a pedal digit 4.


proximal interphalangeal joint of little finger


carpometacarpal joint

The carpometacarpal joints (CMC) are joints in the wrist that articulates the distal row of carpal bones and the proximal bases of the metacarpal bones.


metacarpophalangeal joint of manual digit 1

A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 1.


synovial joint of pectoral girdle

A synovial joint that is part of a pectoral girdle region.


distal interphalangeal joint of digit 2

A distal interphalangeal joint that is part of a digit 2.


interphalangeal joint of manual digit 3

An interphalangeal joint of manus that is part of a manual digit 3.


distal interphalangeal joint of pedal digit 2


radio-carpal joint

A skeletal joint that connects a radius bone and connects a carpal skeleton.


costovertebral joint

The costovertebral joints are the articulations that connect the heads of the ribs with the bodies of the thoracic vertebrae. Joining of ribs to the vertebrae occurs at two places, the head and the tubercle of the rib. Two convex facets from the head attach to two adjacent vertebrae. This forms a trochoid joint, which is strengthened by the ligament of the head and the intercapital ligament. Articulation of the tubercle is to the transverse process of the adjacent vertebrae. This articulation is reinforced by the dorsal costotransverse ligament. [WP,unvetted].


cricothyroid joint

The cricoarytenoid articulation (or joint) is a joint connecting the cricoid cartilage and the thyroid cartilage.


distal interphalangeal joint of pedal digit 5


synovial limb joint

Any synovial joint that is part of a (free) limb.


intercarpal joint

A skeletal joint that connects two carpal bones.


distal interphalangeal joint of manual digit 3

A distal inter-phalangeal joint that is part of the 3rd manual digit.


interphalangeal joint of pedal digit 3

An interphalangeal joint of pes that is part of a pedal digit 3.


distal radio-ulnar joint

The Distal Radioulnar Articulation (inferior radioulnar joint) is a pivot-joint formed between the head of the ulna and the ulnar notch on the distal radius.


interphalangeal joint

A joint that connects one phalanx to another along a proximodistal axis.


intermetatarsal joint

A joint that connects two adjacent metatarsals.


wrist joint

A joint connecting the forelimb zeugopod skeleton with the carpal skeleton.


incudostapedial joint

The small synovial joint connecting the inclus and the stapes, located between the lenticular process on the long crus of the incus and the head of the stapes.


interphalangeal joint of manual digit 1

An interphalangeal joint of manus that is part of a manual digit 1.


metatarsophalangeal joint of pedal digit 1

A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 1.


subtalar joint

A joint of the pes that connects the talus and the calcaneus.


quadrate-articular joint

A skeletal joint that connects quadrate and articular bones.


cervical vertebral arch joint

A vertebral arch joint that is part of a cervical region of vertebral column.


interphalangeal joint of manus

The interphalangeal articulations of hand are hinge-joints of the phalanges of the hand. There are two sets (except in the thumb): 'proximal interphalangeal joints' (PIP), those between the first (also called proximal) and second (intermediate) phalanges 'distal interphalangeal joints' (DIP), those between the second and third (distal) phalanges A similar group of articulations also function in the toes.


proximal interphalangeal joint

An inter-phalangeal joint that connects a proximal phalanx to either a medial or distal phalanx.


sternocostal joint

Arthrodial joints, with the exception of the first, in which the cartilage is directly united with the sternum, and which is, therefore, a synarthrodial articulation.


condylar joint

In a condyloid joint (condyloid articulation, ellipsoidal joint) an ovoid articular surface, or condyle, is received into an elliptical cavity. This permits movement in two planes, allowing flexion, extension, adduction, abduction, and circumduction.


intertarsal-type crurotarsal joint

An ankle joint that passes between the astragalus and calcaneum.


metatarsophalangeal joint of pedal digit 4

A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 4.


metacarpal/tarsal-phalangeal joint

A skeletal joint that connects a mesopodium bone and connects a proximal phalanx.


joint of auditory ossicle

Any synovial joint that connects auditory ossicles.


metatarsophalangeal joint of pedal digit 2

A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 2.


laryngeal joint

A skeletal joint that connects a laryngeal cartilage.


mesotarsal joint

An ankle joint that passes between the proximal and distal tarsals.


interphalangeal joint of pedal digit 5

An interphalangeal joint of pes that is part of a pedal digit 5.


stifle joint

A complex joint in the hind limbs of quadruped mammals such as the sheep, horse or dog. It is the equivalent joint to the human knee. It is often the largest synovial joint in the body.


joint connecting upper and lower jaws

Synovial joint that articulates bones of upper and lower jaw.


transverse tarsal joint

The transverse tarsal joint is formed by the articulation of the calcaneus with the cuboid, and the articulation of the talus with the navicular. The movement which takes place in this joint is more extensive than that in the other tarsal joints, and consists of a sort of rotation by means of which the foot may be slightly flexed or extended, the sole being at the same time carried medially (inverted) or laterally.


interphalangeal joint of manual digit 5

An interphalangeal joint of manus that is part of a manual digit 5.


radio-ulnar joint

A joint that connects the radius and the ulna. Examples: proximal and distal radio-ulnar joints.


interphalangeal joint of pedal digit 2

An interphalangeal joint of pes that is part of a pedal digit 2.


exoccipital-atlas joint

A synovial joint that connects a vertebral bone 1 and connects a exoccipital bone.


midcarpal joint

An intercarpal that connects a proximal and distal carpal bone.


metacarpophalangeal joint of manual digit 3

A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 3.


incudomallear joint

The saddle-shaped synovial joint connecting the incus and the malleus.


metacarpophalangeal joint of manual digit 5

A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 5.


atlanto-occipital joint

The Atlanto-occipital joint (articulation between the atlas and the occipital bone) consists of a pair of condyloid joints. The atlanto-occipital joint is a synovial joint. The ligaments connecting the bones are: Two Articular capsules; Posterior atlantoöccipital membrane; Anterior atlantoöccipital membrane; Lateral atlantoöccipital.


metatarsophalangeal joint of pedal digit 3

A skeletal joint that connects a metatarsal bone and connects a distal phalanx of pedal digit 3.


manus joint

A skeletal joint that is part of a manus (hand) [Automatically generated definition].


acromioclavicular joint

Any joint connecting the acromonion of the scapula and clavicle.


cricoarytenoid joint

The cricoarytenoid articulation (or joint) is a joint connecting the cricoid cartilage and the arytenoid cartilage.


distal interphalangeal joint of digit 4

A distal interphalangeal joint that is part of a digit 4.


proximal radio-ulnar joint

The proximal radioulnar articulation (superior radioulnar joint) is a trochoid or pivot joint between the circumference of the head of the radius and the ring formed by the radial notch of the ulna and the annular ligament.


tibiotalar joint

A skeletal joint that connects a tibia and connects a talus.


distal interphalangeal joint of manual digit 2


calcaneocuboid joint

Calcaneocuboid Articulation (articulation of the calcaneus with the cuboid). The ligaments connecting the calcaneus with the cuboid are five in number, viz. , the articular capsule, the dorsal calcaneocuboid, part of the bifurcated, the long plantar, and the plantar calcaneocuboid.


talocalcaneonavicular joint

The talocalcaneonavicular articulation is an arthrodial joint: the rounded head of the talus being received into the concavity formed by the posterior surface of the navicular, the anterior articular surface of the calcaneus, and the upper surface of the plantar calcaneonavicular ligament. There are two ligaments in this joint: the articular capsule and the dorsal talonavicular.


temporomandibular joint

A synovial joint of the jaw that connects the mandible to the temporal bone.


interphalangeal joint of manual digit 2

An interphalangeal joint of manus that is part of a manual digit 2.


carpometacarpal joint of digit 1

A carpometacarpal joint that connects to metacarpal 1.


metacarpophalangeal joint of manual digit 4

A skeletal joint that connects a metacarpal bone and connects a proximal phalanx of manual digit 4.


intertarsal joint

Intertarsal articulations are the joints of the tarsus. The specific intertarsal articulations are: Talocalcaneal articulation Talocalcaneonavicular articulation Calcaneocuboid articulation Cuneonavicular articulation Cuboideonavicular articulation Intercuneiform articulation Cuneocuboid articulation.


fusion of virus membrane with host macropinosome membrane

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

Fusion of a viral membrane with a host macropinosome membrane, that occurs after internalization of the virus through the endosomal pathway, and results in release of the viral contents into the host cell cytoplasm.


Matthew-Wood syndrome

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

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.


negative regulation of acetylcholine secretion, neurotransmission

Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of acetylcholine.


inferior rectal artery

The inferior rectal artery (inferior hemorrhoidal artery) is an artery that supplies blood to the lower half of the anal canal. [WP,unvetted].


Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor

A testicular mixed germ cell-sex cord-stromal tumor in which the neoplastic germ cells and the neoplastic sex cord-stromal cells do not form nests and are instead arranged in a diffuse pattern.


N-acyl-D-amino-acid deacylase activity

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

Catalysis of the reaction: H2O + N-acyl-D-amino acid = D-amino acid + an acid.


Empyema with fistula

An empyema with a fistula.


insect adult head

Head of the adult organism.


structural constituent of carboxysome shell

The action of a molecule that contributes to the structural integrity of a carboxysome shell, an organelle found in all cyanobacteria and some chemoautotrophs, consisting of a proteinaceous coat and enzymes for the fixation of CO2.


rhombomere 3 formation

The process that gives rise to rhombomere 3. This process pertains to the initial formation of a structure from unspecified parts. Rhombomeres are transverse segments of the developing rhombencephalon. Rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates. Rhombomeres are numbered in anterior to posterior order.


secondary early-onset glaucoma of genetic origin


CD27 receptor binding

Binding to a CD27, a receptor found on the surface of T cells and some B cells and NK cells.


positive regulation of CD4 production

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4.


regulation of CD4 production

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4.


negative regulation of CD4 production

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of CD4.


intracellular auxin homeostasis

A homeostatic process involved in the maintenance of a steady state level of auxin within a cell.


carbon catabolite repression of transcription from RNA polymerase II promoter by glucose

A transcription regulation process in which the presence of glucose leads to a decrease in the frequency, rate, or extent of transcription of specific RNA polymerase II-transcribed genes involved in the metabolism of other carbon sources. Carbon catabolite repression is a mechanism of genetic regulation which the accumulation of catabolites of one substance in the cell represses the formation of enzymes that contribute to the catabolism of other substances.


negative regulation of transcription by glucose

Any process involving glucose that decreases the frequency, rate or extent or transcription.


negative regulation of transcription from RNA polymerase II promoter by glucose

Any process involving glucose that decreases the frequency, rate or extent or transcription from an RNA polymerase II promoter.


congenital plasminogen activator inhibitor type 1 deficiency

Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.


Advanced Ovarian Clear Cell Adenocarcinoma

Ovarian clear cell adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Adenocarcinoma

An adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Breast Adenocarcinoma

Breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrial Endometrioid Adenocarcinoma

Endometrial endometrioid adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Intrahepatic cholangiocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Distal Bile Duct Adenocarcinoma

Distal bile duct adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced renal cell carcinoma

Renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Prostate Adenocarcinoma with Neuroendocrine Differentiation

Prostate adenocarcinoma with neuroendocrine differentiation that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Gastric Adenocarcinoma

Gastric adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Unresectable Gastric Adenocarcinoma

A gastric adenocarcinoma that has spread from its original site of growth to distant anatomic sites and is not amenable to surgical resection.


Advanced Chromophobe Renal Cell Carcinoma

Chromophobe renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Unclassified Renal Cell Carcinoma

Unclassified renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Triple-Negative Breast Carcinoma

Triple-negative breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cervical Adenocarcinoma

A cervical adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Hepatocellular Carcinoma

Hepatocellular carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Cholangiocarcinoma

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


Advanced Endometrial Adenocarcinoma

Endometrial adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Appendix Adenocarcinoma

Appendix adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Sarcomatoid Renal Cell Carcinoma

Sarcomatoid renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Hilar Cholangiocarcinoma

Hilar cholangiocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Clear Cell Renal Cell Carcinoma

A clear cell renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Adult Hepatocellular Carcinoma

A hepatocellular carcinoma that occurs during adulthood and has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Papillary Renal Cell Carcinoma

A papillary renal cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrial Serous Adenocarcinoma

Endometrial serous adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Vaginal Adenocarcinoma

Vaginal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Gastroesophageal Junction Adenocarcinoma

Gastroesophageal junction adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Colorectal Adenocarcinoma

Colorectal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Esophageal Adenocarcinoma

Esophageal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced HER2-Positive Breast Carcinoma

HER2-positive breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Pancreatic Adenocarcinoma

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


Advanced Adenocarcinoma of Unknown Primary

An adenocarcinoma of unknown primary that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Hormone Receptor-Positive Breast Carcinoma

Hormone receptor-positive breast carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Pancreatic Ductal Adenocarcinoma

Pancreatic ductal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Rectal Adenocarcinoma

Rectal adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Lung Adenocarcinoma

Lung adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Colon Adenocarcinoma

Colon adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Fibrolamellar Carcinoma

Fibrolamellar carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Endometrioid Adenocarcinoma

Endometrioid adenocarcinoma that has spread extensively from the original site of growth to other anatomic sites or is no longer responding to treatment.


Advanced HER2-Negative Breast Carcinoma

HER2-negative breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Prostate Adenocarcinoma

A prostatic adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Advanced Ovarian Endometrioid Adenocarcinoma

Ovarian endometrioid adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


positive regulation of embryo sac central cell differentiation

Any process that activates or increases the frequency, rate or extent of embryo sac central cell differentiation.


negative regulation of embryo sac central cell differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of embryo sac central cell differentiation.


gastrophrenic ligament

The portion of the greater omentum that extends from the greater curvature of the stomach to the inferior surface of the diaphragm.


autosomal dominant nonsyndromic hearing loss 17

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.


Locally Advanced Unresectable Gallbladder Carcinoma

Gallbladder carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Catalysis of the reaction: flavonol 3-O-beta-D-glucoside + malonyl-CoA = malonyl-flavonol 3-O-beta-D-glucoside + CoA.


mitotic anaphase A

The cell cycle phase during which the kinetochore microtubules shorten as chromosomes move toward the spindle poles as part of mitosis.


Stage IIIA Uveal Melanoma AJCC v7

Stage IIIA includes: (T2c-d, N0, M0); (T3b-c, N0, M0); (T4a, N0, M0).  T2c: Ciliary body and choroid: Tumor size category 2 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T2d: Ciliary body and choroid: Tumor size category 2 with ciliary body involvement and extraocular extension less than or equal to 5 mm in diameter. T3b: Ciliary body and choroid: Tumor size category 3 with ciliary body involvement. T3c: Ciliary body and choroid: Tumor size category 3 without ciliary body involvement but with extraocular extension less than or equal to 5 mm in diameter. T4a: Iris: Tumor with extrascleral extension less than or equal to 5 mm in diameter.  Ciliary body and choroid: Tumor size category 4 without ciliary body involvement and extraocular extension.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 7th ed.)


positive regulation of P-type sodium:potassium-exchanging transporter activity

Any process that activates or increases the frequency, rate or extent of sodium:potassium-exchanging ATPase activity.


Toll receptor ligand protein activation cascade

A protein activation cascade that generates the active Toll receptor ligand and consists of the cascade of enzymatic reactions initiated by extracellular recognition factors, leading to the cleavage of the inactive form of spatzle family of ligands.


acne keloid

A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent.


Asperger syndrome

A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.


Femoropopliteal Artery Segment

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

The segment of the arterial system that includes the popliteal artery and its origin from the femoral artery.


positive regulation of fertilization

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


rod bipolar cell differentiation

The process in which a relatively unspecialized cell acquires the specialized features of a rod bipolar cell.


cone retinal bipolar cell differentiation

The process in which a relatively unspecialized cell acquires the specialized features of a cone retinal bipolar cell.


epithelium of bronchus

An epithelium that is part of a bronchus [Automatically generated definition].


pseudostratified columnar epithelium

A simple columnar epithelium that looks stratified but is not, because its cells are arranged with their nuclei at different levels.


pseudostratified ciliated columnar epithelium

Epithelium composed of a single layer of cells, appearing as layered because the column-shaped cells vary in height so the nuclei are at different levels. The basal portions of all the cells are in contact with the basement membrane. It lines the respiratory system and the male reproductive tract. The cilia in the respiratory tract are motile, while the stereocilia in the male reproductive tract are immobile.


epithelium of trachea

The epithelial lining of the trachea which contains numerous ciliated cells.


seminal vesicle epithelium

An epithelium that is part of a seminal vesicle [Automatically generated definition].


vas deferens epithelium

An epithelium that is part of a vas deferens [Automatically generated definition].


nasal cavity respiratory epithelium

An epithelium that is part of the respiratory segment of the nasal mucosa [Automatically generated definition].


skin of neck

A zone of skin that is part of a neck [Automatically generated definition].


D-Ofloxacin

The (R)-enantiomer of ofloxacin.


Either of the two diastereoisomers of 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the imidazol-1-ylmethyl group and the aryloxymethyl group are in a cis relationship to each other - i.e. they are both on the same side of the plane of the dioxolane ring. The antifungal drug ketoconazole is a racemic mixture of the two cis diastereoisomers.


Either of the two diastereoisomers of 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the imidazol-1-ylmethyl group and the aryloxymethyl group are in a trans relationship to each other - i.e. they are on opposite sides of the plane of the dioxolane ring. (N.B. The antifungal drug ketoconazole is a racemic mixture of the two cis diastereoisomers.)


The (S)-enantiomer of gatifloxacin.


Aripiprazole lauroxil

A dodecanoate ester obtained by formal condensation of the carboxy group of dodecanoic acid with the hydroxy group of 7-{4-[4-(2,3-dichlorophenyl)piperazin-1-yl]butoxy}-2-oxo-3,4-dihydroquinolin-1(2H)-yl]methanol. A prodrug for aripiprazole, it is used for treatment of schizophrenia.


Difloxacin

A quinolone that is pefloxacin in which the ethyl group at position 1 of the quinolone has been replaced by a p-fluorophenyl group. A broad-spectrum antibiotic effective against both Gram-positive and Gram-negative bacteria, it is used (usually as the monohydrochloride salt) for the treatment of bacterial infections in dogs.


trans-Ketoconazole

A 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the dioxolane ring has R configuration at positions 2 and 4.


(R)-gatifloxacin

The (R)-enantiomer of gatifloxacin.


Sulfociprofloxacin

An organosulfonic acid that is ciprofloxacin  carrying a sulfo group at position 4 of the piperazine ring. It is a metabolite of ciprofloxacin.


(R)-temafloxacin

1-(2,4-difluorophenyl)-6-fluoro-7-(3-methylpiperazin-1-yl)-4-oxo-1,4-dihydroquinoline-3-carboxylic acid that has R configuration.


(S)-temafloxacin

1-(2,4-difluorophenyl)-6-fluoro-7-(3-methylpiperazin-1-yl)-4-oxo-1,4-dihydroquinoline-3-carboxylic acid that has S configuration.


Temafloxacin

A racemate comprising equimolar amounts of (R)- and (S)-temafloxacin. Both enantiomers both exhibit similar pharmacological profiles. Temafloxacin was briefly used (either as the free base or as the hydrochloride salt) as an antibacterial drug but was withdrawn worldwide in 1992 following reports of serious side effects, including severe hypoglycaemia, haemolytic anaemia, liver and kidney dysfunction, anaphylaxis, and death.


Triaconazole

A dioxolane that is 1,3-dioxolane which is substituted at positions 2, 2, and 4 by 2,4-dichlorophenyl, 1H-1,2,4-triazol-1-ylmethyl, and [4-(4-isopropylpiperazin-1-yl)phenoxy]methyl groups, respectively.


(+)-Ketoconazole

A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2R,4S)-configuration.


Enrofloxacin

A quinolinemonocarboxylic acid that is 1,4-dihydroquinoline-3-carboxylic acid substituted by an oxo group at position 4, a fluoro group at position 6, a cyclopropyl group at position 1 and a 4-ethylpiperazin-1-yl group at position 7. It is a veterinary antibacterial agent used for the treatment of pets.


A 1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine in which the dioxolane ring has S configuration at positions 2 and 4.


Oxociprofloxacin

metabolite of ciprofloxacin


Ketoconazole

A cis-1-acetyl-4-(4-{[2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine which dioxolane moiety has (2S,4R)-configuration.


epithelial cell migration involved in mesonephric proximal tubule morphogenesis

The orderly movement of epithelial cells within a renal tubule that contributes to mesonephric proximal tubule morphogenesis.


epithelial cell migration involved in proximal tubule morphogenesis

The orderly movement of epithelial cells within a renal tubule that contributes to proximal tubule morphogenesis.


epithelial cell migration involved in metanephric proximal tubule morphogenesis

The orderly movement of epithelial cells within a renal tubule that contributes to metanephric proximal tubule morphogenesis.


isobutyryl-CoA dehydrogenase deficiency

An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).


posterior auricular vein

The posterior auricular vein begins upon the side of the head, in a plexus which communicates with the tributaries of the occipital vein and superficial temporal veins. It descends behind the auricula, and joins the posterior division of the posterior facial vein to form the external jugular. It receive the stylomastoid vein, and some tributaries from the cranial surface of the auricula.


auricular vein

Any vein serving the ear region.


anterior auricular vein

The anterior auricular veins are veins which drain the anterior aspect of the external ear. [WP,unvetted].


succinyl-CoA biosynthetic process

The chemical reactions and pathways resulting in the formation of succinyl-CoA.


Metastatic Rectal Adenocarcinoma

An adenocarcinoma that arises from the rectum and has metastasized to another anatomic site.


Locally Advanced Unresectable Rectal Adenocarcinoma

A rectal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


Locally Advanced Rectal Adenocarcinoma

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


negative regulation of tau-protein kinase activity

Any process that stops, prevents or reduces the frequency, rate or extent of tau-protein kinase activity.


positive regulation of tau-protein kinase activity

Any process that activates or increases the frequency, rate or extent of tau-protein kinase activity.


skin of ankle

A zone of skin that is part of an ankle [Automatically generated definition].


developmental and epileptic encephalopathy, 81


benign adult familial myoclonic epilepsy

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.


adult Refsum disease

A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.


adult Refsum disease due to PEX7 defect

An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.


peroxisome biogenesis disorder due to PEX10 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene.


creatine transporter deficiency

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.


PUM1-associated developmental disability-ataxia-seizure syndrome


pyridoxine-dependent epilepsy

A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).


developmental and epileptic encephalopathy 110


developmental and epileptic encephalopathy, 42

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene.


febrile seizures, familial, 8

A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.


developmental and epileptic encephalopathy 108


developmental and epileptic encephalopathy, 66


developmental and epileptic encephalopathy, 31

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene.


peroxisome biogenesis disorder due to PEX13 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene.


developmental and epileptic encephalopathy, 3

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.


developmental and epileptic encephalopathy, 38

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.


developmental and epileptic encephalopathy, 55


disorder of bile acid aminotransferase

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase.


early-onset Lafora body disease

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.


peroxisome biogenesis disorder due to PEX26 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene.


peroxisomal single enzyme/protein defect

Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.


A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS).


developmental and epileptic encephalopathy, 58


peroxisome biogenesis disorder 3A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome.


developmental and epileptic encephalopathy, 2

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.


encephalopathy due to GLUT1 deficiency

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.


spastic paraplegia-severe developmental delay-epilepsy syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.


mulibrey nanism

A prenatal onset growth disorder with multiorgan manifestations.


X-linked cerebral adrenoleukodystrophy

A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.


developmental and epileptic encephalopathy, 12

An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.


sterol carrier protein 2 deficiency

A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.


neonatal-onset developmental and epileptic encephalopathy

A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur.


developmental and epileptic encephalopathy, 82


rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.


Zellweger spectrum disorders

The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.


pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.


developmental and epileptic encephalopathy, 51

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.


epilepsy, idiopathic generalized

A chronic condition characterised by recurrent generalised seizures.


AGAT deficiency

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.


developmental and epileptic encephalopathy, 26

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene.


Lafora disease

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.


infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.


peroxisome biogenesis disorder 7A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.


benign familial infantile epilepsy

Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.


inherited reflex epilepsy

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


undetermined early-onset epileptic encephalopathy

A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.


developmental and epileptic encephalopathy, 64


peroxisome biogenesis disorder 1B

An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


encephalopathy due to mitochondrial and peroxisomal fission defect


peroxisome biogenesis disorder due to PEX3 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene.


developmental and epileptic encephalopathy, 7

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.


neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.


epilepsy, familial focal, with variable foci 4


seizures, benign familial infantile, 3

Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.


developmental and epileptic encephalopathy, 87


peroxisome biogenesis disorder, complementation group 3


developmental and epileptic encephalopathy, 6

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene.


Autosomal dominant epilepsy with auditory features

A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.


lipoic acid synthetase deficiency

Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.


epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).


developmental and epileptic encephalopathy

A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.


juvenile absence epilepsy

Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks.


progressive myoclonic epilepsy type 3

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.


developmental and epileptic encephalopathy, 80


peroxisome biogenesis disorder 1A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).


adrenomyeloneuropathy

An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.


epileptic encephalopathy, infantile or early childhood


developmental and epileptic encephalopathy 105 with hypopituitarism


peroxisome biogenesis disorder due to PEX6 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene.


developmental and epileptic encephalopathy, 72


focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed.


pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.


developmental and epileptic encephalopathy, 76

An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.


disorder of peroxisomal alpha oxidation

Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion.


generalized epilepsy with febrile seizures plus, type 1


rhizomelic chondrodysplasia punctata type 3

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.


peroxisome biogenesis disorder 4B

An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2, Peroxisome biogenesis disorder 4B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


developmental and epileptic encephalopathy 102


developmental and epileptic encephalopathy 101


disorder of peroxisomal transporter

Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport.


developmental and epileptic encephalopathy, 46

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.


peroxisome biogenesis disorder due to PEX16 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene.


generalized epilepsy with febrile seizures plus, type 8


A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory.


peroxisome biogenesis disorder due to PEX12 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.


developmental and epileptic encephalopathy, 56


Mowat-Wilson syndrome due to a ZEB2 point mutation


adolescent/adult onset autosomal dominant epilepsy with auditory features

A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled.


developmental and epileptic encephalopathy, 30

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene.


generalized epilepsy with febrile seizures plus, type 6


familial encephalopathy with neuroserpin inclusion bodies


peroxisome biogenesis disorder 10A (Zellweger)


developmental and epileptic encephalopathy 109


juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).


developmental and epileptic encephalopathy, 19

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene.


autosomal recessive spinocerebellar ataxia 15

Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.


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


developmental and epileptic encephalopathy 6B


phytanoyl-CoA hydroxylase deficiency

Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene.


disorder of defective peroxisomal and mitochondrial fission

A disease that has its basis in the disruption of peroxisome and mitochondrial fission.


mitochondrial DNA depletion syndrome 4a

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.


severe neonatal-onset encephalopathy with microcephaly

An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.


X-linked intellectual disability-epilepsy syndrome


pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.


biotinidase deficiency

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.


cerebral creatine deficiency syndrome

Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


developmental and epileptic encephalopathy, 36

An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the ALG13 gene, encoding putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13.


pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


developmental and epileptic encephalopathy, 53


autosomal dominant nocturnal frontal lobe epilepsy 4

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.


developmental and epileptic encephalopathy, 11

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.


pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


developmental and epileptic encephalopathy, 74


myoclonic-atonic epilepsy

An autosomal dominant condition caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1. It is characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures.


congenital bile acid synthesis defect 4

An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.


generalized epilepsy with febrile seizures plus, type 9

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene.


familial temporal lobe epilepsy 2

A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.


developmental and epileptic encephalopathy, 63


photosensitive epilepsy

An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.


peroxisome biogenesis disorder 6B

An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


congenital bile acid synthesis defect 5

Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


folinic acid-responsive seizures

Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid.


seizures, benign familial neonatal, 1

Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.


temporal lobe epilepsy

A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)


developmental and epileptic encephalopathy, 50


epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features


developmental and epileptic encephalopathy, 37

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.


developmental and epileptic encephalopathy, 68


epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features


familial mesial temporal lobe epilepsy with febrile seizures


developmental and epileptic encephalopathy, 88


developmental and epileptic encephalopathy 89


epilepsy, early-onset, vitamin B6-dependent


generalized epilepsy with febrile seizures plus, type 7

Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.


childhood absence epilepsy

Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.


developmental and epileptic encephalopathy 106


developmental and epileptic encephalopathy, 18


pyridoxal phosphate-responsive seizures

Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


developmental and epileptic encephalopathy, 75


developmental and epileptic encephalopathy, 69


pyruvate dehydrogenase phosphatase deficiency

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


peroxisome biogenesis disorder 5A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder due to PEX14 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.


infantile convulsions and choreoathetosis

Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence.


GLUT1 deficiency syndrome

An epileptic encephalopathy resulting from impaired glucose transport into the brain.


developmental and epileptic encephalopathy, 34

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene.


developmental and epileptic encephalopathy 96


X-linked dominant intellectual disability-epilepsy syndrome


seizures, benign familial infantile, 5

Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.


action myoclonus-renal failure syndrome

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.


peroxisome biogenesis disorder 8B

An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


peroxisome biogenesis disorder 11A (Zellweger)


pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


progressive myoclonic epilepsy type 8

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene.


Mowat-Wilson syndrome due to monosomy 2q22


pyruvate dehydrogenase E3 deficiency

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.


developmental and epileptic encephalopathy, 21

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.


developmental and epileptic encephalopathy, 14

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene.


epilepsy, familial focal, with variable foci 3

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.


benign familial neonatal-infantile seizures 1


developmental and epileptic encephalopathy, 62


alanine glyoxylate aminotransferase deficiency

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


d-bifunctional protein deficiency

A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.


non-neonatal early infantile epileptic encephalopathy

Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death.


developmental and epileptic encephalopathy, 78


neonatal-onset encephalopathy with rigidity and seizures


developmental and epileptic encephalopathy 99


acyl-CoA binding domain containing protein 5 deficiency

A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay.


autosomal dominant nocturnal frontal lobe epilepsy 5

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene.


childhood epilepsy with centrotemporal spikes

A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.


benign idiopathic neonatal seizures

A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable.


fatty acyl-CoA reductase defects

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


autosomal recessive spinocerebellar ataxia 12

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.


peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.


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


epilepsy, familial focal, with variable foci 1

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene.


developmental and epileptic encephalopathy, 61


developmental and epileptic encephalopathy, 35


epileptic encephalopathy, infantile or early childhood, 2


Lennox-Gastaut syndrome

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.


developmental and epileptic encephalopathy 107


developmental and epileptic encephalopathy, 44

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene.


familial focal epilepsy with variable foci

Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.


oxoglutaricaciduria

Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.


developmental and epileptic encephalopathy, 13

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.


developmental and epileptic encephalopathy, 48

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.


developmental and epileptic encephalopathy, 54


seizures, benign familial neonatal, 2

Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.


developmental and epileptic encephalopathy, 16


hot water reflex epilepsy

Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.


developmental and epileptic encephalopathy, 71


peroxisome biogenesis disorder 7B

An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


FOXG1 disorder

A monogenic disease that has material basis in mutation in the FOXG1 gene.


developmental and epileptic encephalopathy 104


A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.


progressive myoclonic epilepsy with neuroserpin inclusion bodies


cerebral folate deficiency

Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system.


Mowat-Wilson syndrome

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.


generalized epilepsy-paroxysmal dyskinesia syndrome

Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.


global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome


peroxisome biogenesis disorder, complementation group 2


developmental and epileptic encephalopathy, 40

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.


benign familial mesial temporal lobe epilepsy

Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication.


FOXG1 syndrome due to intragenic alteration


autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency


acatalasia

A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.


progressive myoclonic epilepsy type 7

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.


epilepsy, familial temporal lobe, 1

An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.


peroxisome biogenesis disorder due to PEX11B defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene.


neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).


isolated adrenal insufficiency

An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age.


developmental and epileptic encephalopathy, 15


developmental and epileptic encephalopathy, 32

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene.


developmental and epileptic encephalopathy, 1

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene.


developmental and epileptic encephalopathy, 77


peroxisome biogenesis disorder 13A (Zellweger)


arthrogryposis epileptic seizures migrational brain disorder


developmental and epileptic encephalopathy, 23


epilepsy, familial focal, with variable foci 2

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.


rhizomelic chondrodysplasia punctata type 2

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.


autosomal dominant nocturnal frontal lobe epilepsy 1

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.


polyhydramnios, megalencephaly, and symptomatic epilepsy


developmental and epileptic encephalopathy, 73


developmental and epileptic encephalopathy, 60


bile acid CoA:amino acid N-acyltransferase deficiency

Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.


developmental and epileptic encephalopathy 94

An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.


developmental and epileptic encephalopathy, 27

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene.


epilepsy, familial adult myoclonic, 5

Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.


developmental and epileptic encephalopathy, 83


developmental and epileptic encephalopathy, 84


childhood onset GLUT1 deficiency syndrome 2

A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.


peroxisome biogenesis disorder 6A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6A manifests phenotypically as Zellweger syndrome.


Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.


developmental and epileptic encephalopathy 97


peroxisome biogenesis disorder 8A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.


peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.


peroxisome biogenesis disorder 4A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX6 gene, peroxisome assembly factor 2. Peroxisome biogenesis disorder 4A manifests phenotypically as Zellweger syndrome.


non-Zellweger spectrum disorder

A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.


autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.


encephalopathy due to defective mitochondrial and peroxisomal fission 2


developmental and epileptic encephalopathy, 8


seizures, benign familial neonatal, autosomal recessive


microcephaly, seizures, and developmental delay


developmental and epileptic encephalopathy, 49

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.


developmental and epileptic encephalopathy, 5

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.


developmental and epileptic encephalopathy, 9

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.


peroxisome biogenesis disorder due to PEX7 defect

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.


NARP syndrome

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.


developmental and epileptic encephalopathy, 41

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.


developmental and epileptic encephalopathy, 33

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene.


peroxisome biogenesis disorder 5B

An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


developmental and epileptic encephalopathy, 57


peroxisome biogenesis disorder 2B

An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.


primary hyperoxaluria type 1

A rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.


epilepsy, progressive myoclonic, 1B

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.


developmental and epileptic encephalopathy 100


developmental and epileptic encephalopathy, 67


developmental and epileptic encephalopathy, 52


developmental and epileptic encephalopathy, 70


adrenoleukodystrophy

A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.


developmental and epileptic encephalopathy, 17

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.


developmental and epileptic encephalopathy, 39

A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.


autosomal dominant nocturnal frontal lobe epilepsy 3

Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene.


syndromic X-linked intellectual disability Hedera type

X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.


multiple congenital anomalies-hypotonia-seizures syndrome 2

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


peroxisome biogenesis disorder due to PEX1 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.


epileptic encephalopathy, infantile or early childhood, 1


developmental and epileptic encephalopathy, 43

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene.


developmental and epileptic encephalopathy, 45

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.


mesial temporal lobe epilepsy with hippocampal sclerosis

Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits.


autosomal dominant nocturnal frontal lobe epilepsy 2

An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24.


peroxisomal disease

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.


peroxisome biogenesis disorder 12A (Zellweger)


familial temporal lobe epilepsy 6

A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26.


familial temporal lobe epilepsy 7

A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.


developmental and epileptic encephalopathy, 24

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.


epilepsy, familial adult myoclonic, 2

Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.


progressive myoclonic epilepsy type 6

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.


generalized epilepsy with febrile seizures plus, type 2

Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.


developmental and epileptic encephalopathy, 25

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene.


Dravet syndrome

Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A.


benign neonatal seizures

A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.


developmental and epileptic encephalopathy, 79


developmental and epileptic encephalopathy, 28

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene.


developmental and epileptic encephalopathy, 85, with or without midline brain defects


developmental and epileptic encephalopathy, 29

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.


autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome


holocarboxylase synthetase deficiency

A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.


developmental and epileptic encephalopathy 103


generalized epilepsy with febrile seizures plus, type 10


peroxisome biogenesis disorder due to PEX2 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.


peroxisome biogenesis disorder due to PEX19 defect

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene.


MERRF syndrome

A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.


developmental and epileptic encephalopathy, 47

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.


familial temporal lobe epilepsy 8

A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.


familial temporal lobe epilepsy 5

A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.