MPO Gene-Phenotype Associations Dataset

Description observed phenotypes of transgenic mice collected from mouse phenotyping studies
Measurement association by various assays depending on phenotype
Association gene-phenotype associations from phenotyping studies of knockout mice
Category disease or phenotype associations
Resource Mammalian Phenotype Ontology
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  1. 7798 genes
  2. 8579 phenotypes
  3. 466673 gene-phenotype associations

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phenotype Gene Sets

8579 sets of gene mutations causing phenotypes in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Gene Set Description
absent metencephalon absence of the anterior part of the developing vertebrate hindbrain or the corresponding part of the adult brain normally composed of the cerebellum and the pons Varolii
abnormal clitoris morphology any structural anomaly of the small, erectile body located at the anterior end of the vulva
abnormal male genitalia morphology any structural anomaly of the masculine organs of reproduction or generation, external or internal
abnormal lung volume anomaly in the amount of air that the lungs contain at various points of the respiratory cycle
abnormal basilar membrane morphology any structural anomaly in the membrane extending from the bony spiral membrane to the basilar crest of the cochlea; it forms the greater part of the floor of the cochlear duct separating the latter from the scala tympani, and it supports the organ of Corti
abnormal neural fold elevation formation any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm
abnormal sensory capabilities/reflexes/nociception inability or altered ability to respond to a sensory stimulus
hyperoxia elevated concentration of O2 in the blood, alveoli or other tissues resulting in the increased pressure of this component of body gases
abnormal behavioral response to anesthetic anomaly in the behavioral changes that follow exposure to an anesthetizing agent
increased brown fat cell size increase in the size of fat cells from the thermogenic form of adipose tissue
vestibular hair cell degeneration degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve
intraventricular block absent or delayed conduction within the ventricular conducting system or in the ventricular myocardium
increased cutaneous melanoma incidence greater than the expected number of a dark-pigmented, usually malignant tumor arising from a melanocyte in the skin, occurring in a specific population in a given time period
abnormal trigeminal ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)
hairpin sperm flagellum a structural alteration where the sperm flagellum becomes bent back (folded) on itself to form a hairpin (loop) structure; a sharp hairpin-like bend formation can disrupt the axial structures and cause the sperm tail to become kinked
spleen vascular congestion obstruction of the normal flux of blood within the blood vessel network of the spleen
increased bone mineral density increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size
liver abscess The presence of an abscess of the liver.
abnormal auditory brainstem response waveform shape any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to short tone bursts
abnormal retinal photoreceptor layer morphology any structural anomaly of the photoreceptor layer
delayed axon extension an increased amount of time required for an axon to extend from a neuron cell body and find the target
rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
intestinal/bowel diverticulum a pouch or sac protruding from the intestinal or bowel wall
retinal fibrosis invasion of fibrous connective tissue into the retina, often resulting from inflammation or injury
postaxial polydactyly
adipose tissue necrosis morphological changes resulting from pathological death of adipose tissue; usually due to irreversible damage
ovary atrophy acquired diminution of the size of the ovaries associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
increased mean corpuscular volume Larger than normal size of erythrocytes.
small endolymphatic duct reduced size of the small membranous canal which connects with both saccule and utricle of the membranous labyrinth, passes through the aqueduct of vestibule, and terminates in the endolymphatic sac
abnormal bradykinin level abnormal concentration of a potent, short-lived vasoactive peptide that causes arteriolar dilation and increased capillary permeability
abnormal fetal derived definitive erythrocyte cell number anomaly in the number of a fetal liver derived enucleated erythrocytes, which mature in macrophage islands within the liver, enucleate, and then enter the bloodstream; these resemble adult erythrocytes in that they are small (3- to 6- times smaller than primitive erythrocytes) and produce adult hemoglobins
decreased bone mineral density of femur reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
abnormal paravertebral ganglion morphology any structural anomaly of the groups of postsynaptic neurons located at intervals along the sympatheic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia
absent cervical lymph nodes absence of the lymph nodes normally found near the neck and shoulders
abnormal nasal cavity morphology any structural anomaly of the portion of the respiratory tract that extends from the nares to the pharynx; the nasal cavity is lined with ciliated mucosa
d-loop transposition of the great arteries complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and the great arteries are parallel rather than crossing
abnormal primary sex determination aberrant gonadal development resulting in either abnormal or absent gonads or the development of gonads inconsistent with the chromosomal sex
abnormal hippocampus stratum lacunosum morphology
abnormal gallbladder morphology A structural anomaly of the gallbladder.
impaired neutrophil recruitment reduced diffusion or accumulation of neutrophils in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions
abnormal ectomesenchyme morphology any structural anomaly in the mesenchymal cells derived from neural crest cells that contribute to development of the hard and soft tissue in the head and neck, including the branchial arches
absent prechordal plate absence of the horseshoe-shaped thickening of the endoderm at the cranial (rostral) end of the primitive streak formed by the involution of Spemann's organizer cells which, together with the notochord, induces the formation of the neural plate from the overlying ectodermal cells and contributes mesodermal type cells to the surrounding tissue
abnormal male urethra morphology any structural anomaly of the male fibromuscular tubular canal which extends from the internal urethral orifice in the urinary bladder to the external urethral orifice at the tip of the penis and provides an exit for urine as well as semen during ejaculation; the male urethra is longer than the urethra of females and comprises three major portions, the (i) prostatic, (ii) membranous (aka intermediate), and (iii) cavernous (aka spongy or penile)
abnormal bone marrow cell number increased or decreased number of cells that make up the core cavities of bones when compared to controls
partial embryonic lethality at implantation the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at the point of implantation (Mus: E4.5)
abnormal zona glomerulosa morphology any structural anomaly of the narrow subcapsular outer zone of the adrenal cortex where aldosterone is produced
tumor regression a decrease in tumor size from a formerly larger state and/or a decrease in the extent of tumors in the body
enlarged clitoris Increased size of the clitoris.
retarded hair growth slow growth of the hair, appears at normal time
increased white fat cell number increase in the number of fat cells with light coloration and few mitochondria
increased keratinocyte migration increased or faster movement of keratinocyes or their precursors to the appropriate location in the body
abnormal ear development developmental anomaly of any of the structures involved in the ear or vestibular system
neural tube degeneration a retrogressive impairment of function or destruction of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)
thin adrenal cortex reduced thickness of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone
kidney medulla cysts abnormal membranous sacs appearing in the inner portion of the kidney which consists of the renal pyramids
ectopic adenohypophysis
abnormal surfactant secretion anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli
abnormal cerebellum fastigial nucleus morphology any structural anomaly of the most medial of the cerebellar nuclei; it receives its afferent input from Purkinje cells of the flocculonodular lobe and the vermis, and most of its efferent connections travel via the inferior cerebellar peduncle to the vestibular nuclei and to the medullary reticular formation
asymmetric rib-sternum attachment loss of bilateral symmetry in rib attachments to the sternum
impaired passive avoidance behavior decrease in or absence of the latency of an animal to enter an hostile environment where it receives a unpleasant or punishing stimuli applied previously
abnormal social/conspecific interaction
dilated proximal convoluted tubules stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle
blepharoptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid.
small sebaceous gland decreased size of the sebum secreting glands of the hair shaft
abnormal hippocampus size anomaly in the size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation
abnormal tooth morphology atypical size, shape or hard tissue structure of the teeth
abnormal neutrophil differentiation atypical production of or inability to produce the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes
camptomelia A bending or abnormal curvature of a long bone.
abnormal vomer bone morphology any structural anomaly of the triangular flat bone of the nasal septum
abnormal endplate potential defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials
abnormal sagittal suture morphology any structural anomaly of the dense, fibrous connective tissue joint between the parietal bones
increased creatine kinase level increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
abnormal semicircular canal morphology any structural anomaly of the organ of balance composed of three long bony tubes of the labyrinth
nervous system phenotype the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan
abnormal estrous cycle failure of progression or aberrant timing of the regular female reproductive cycle of non-primate placental mammals that is under hormonal control and includes a period of heat (mating receptivity), followed by ovulation and complex changes in the reproductive tract, followed by reabsorbtion of the endometrium if pregnancy does not occur
abnormal cd4-positive t cell differentiation atypical production of or inability to produce the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
increased brown fat cell number increase in the number of fat cells from the thermogenic form of adipose tissue
increased vertical activity greater than average time spent jumping or rearing
short nasal bone reduced length of either of two rectangular bone plates forming the bridge of the nose
abnormal neuron differentiation abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses
abnormal long bone metaphysis morphology any structural anomaly of the conical section of bone between the epiphysis and diaphysis of the long bones; this section grows during childhood and juvenile stages and is completely ossified in adults
increased urine potassium level greater than normal amount of potassium in the urine
increased splenocyte apoptosis increase in the number of spleen cells undergoing programmed cell death
decreased placental labyrinth size reduction in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
abnormal testis size anomaly in the size of the male reproductive glands
enhanced learning enhanced ability to aquire lasting change in behavior that is the result of experience
slow postnatal weight gain the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults
abnormal vascular endothelial cell morphology any structural anomaly of the cells that line the vasculature
abnormal sympathetic neuron innervation pattern any changes in the placement, morphology or number of nerve fibers to sympathetic termini
increased nk cell number greater number of lymphocytes that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells
decreased urine urea nitrogen level abnormally low amounts of nitrogen in the form of urea in the urine
increased birth body size increase in average body size at birth compared to controls
abnormal melanosome transport any anomaly in the directed movement of melanosomes into, out of, within or between cells
decreased osteoclast cell number reduced number of the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
decreased oocyte number reduced numbers of germ cells in the female
ectopic neuron appearance of a neuron or group of neurons in a region where it is not normally found
abnormal inferior colliculus morphology any structural anomaly of the paired inferior eminence of the mesencephalic tectum that is involved in preliminary visual processing, and control of eye movements
enlarged otoliths increased average size of the crystalline calciferous particles adhering to the otolithic membrane
decreased susceptibility to viral infection reduced likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus
increased acute promyelocytic leukemia incidence
abnormal tongue muscle morphology any structural anomaly of the muscular portion of the tongue
abnormal retinal inner nuclear layer morphology any structural anomaly of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells
stria vascularis degeneration degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph
abnormal keratinocyte physiology abnormal function of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum
decreased circulating thyroid-stimulating hormone level reduced amount in the blood of the hormone that stimulates the growth and function of the thyroid gland
impaired behavioral response to nicotine decreased sensitivity to nicotine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
abnormal behavioral response to methamphetamine anomaly in the behavioral response induced by methamphetamine such as induced hyperactivity or stereotypic behavior
abnormal auditory brainstem response anomaly in the electrical activity generated in the ascending auditory system in response to short tone bursts; may be used to evaluate sensorineural hearing function; measurements may include the amplitude (the number of neurons firing), latency (the speed of transmission), interpeak latency (the time between peaks), interaural latency (the difference in wave V latency between ears) and threshold
hypothalamus hyperplasia overdevelopment or increased size, usually due an increased number of cells in the hypothalamus
uterus adenomyosis
abnormal macrophage derived foam cell morphology any structural anomaly of a type of macrophage containing lipids in small vacuoles and typically seen in atherolosclerotic lesions, as well as other conditions
absent tibia Absence of the tibia.
abnormal heart left atrium weight anomaly in the average weight of the left atrium compared to the control
absent endoderm absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation
small pharynx reduced size of the passage between the mouth and the posterior nares and the larynx and esophagus
forelimb paralysis loss of power of voluntary movement in muscles of the forelimb through injury or disease of it or its nerve supply
abnormal malleus morphology any structural anomaly of the largest of the three auditory ossicles, which resembles a club or hammer
increased respiratory quotient increase in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls
decreased erythrocyte potassium level decrease in the amount in red blood cells of potassium
increased cellular sensitivity to gamma-irradiation increased incidence of cell death following exposure to gamma-irradiation
whorled hair an area of hair growing opposite in direction to the rest of the hair, a curl or swirl
absent b cells A severe form of B lymphocytopenia in which the count of B cells is very low or absent.
increased urine deoxycorticosterone level an increased amount of deoxycorticosterone in the urine compared to the normal state
abnormal scala vestibuli morphology any structural anomaly of the division of the spiral canal of the cochlea lying on the apical side of the spiral lamina and vestibular membrane
abnormal pupillary reflex alterations or failure of the pupil to change in diameter as a reflex response to any stimulus
increased gastrointestinal tumor incidence greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period
decreased circulating triiodothyronine level reduced amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
abnormal interdigital cell death change in the expected number of cells undergoing programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of normal digits
asymmetric rib-vertebral column attachment loss of bilateral symmetry in rib attachments to the vertebral column
abnormal schwann cell morphology any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons
abnormal posterior definitive endoderm morphology any structural anomaly of the posterior region of the definitive endoderm which evolves into the midgut and hindgut, which will eventually differentiate into the large and small intestine
supernumerary nipples greater than the expected number of structures located on the apex of the mammary gland on the integument surface into which the lactiferous ducts open; normal female mice have five pairs of mammary glands and nipples (males have no nipples); two pairs of nipples are situated in the abdomino-inguinal region (inguinal group) and three pairs in the ventral thoracic region (pectoral or thoracic group)
abnormal keratinocyte morphology any structural anomaly of the cells of the epidermis that produce keratin in the process of differentiating into the dead and fully keratinized cells of the stratum corneum
abnormal renal protein reabsorption any anomaly in the process in which proteins are taken up from the collecting ducts and proximal and distal loops of the nephron
increased pulmonary ventilation increase in the respiratory minute volume, or the total volume of gas per minute inspired or expired expressed in liters per minute; refers to the exchange of air between the total respiratory space and the environment
abnormal habenula morphology any structural anomaly in the group of nuclei that makes up the small eminence on the dorsomedial surface of the thalamus, just in front of the dorsal commissure on the lateral edge of the habenular trigone
diaphragm muscle hyperplasia
abnormal urine antidiuretic hormone level any change in the urine amount of the polypeptide hormone secreted by the posterior lobe of the pituitary gland (neurohypophysis) that increases mean arterial pressure by promoting vasoconstriction and reduces excretion of urine by increasing the reabsorption of water by the kidney tubules
dermal-epidermal separation the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis
behavioral despair depression assayed by reduced escape attempts and/or immobility when placed in a stressful situation such as a forced swim test or a suspension test; or failure to seek pleasurable stimuli
abnormal embryonic tissue morphology any structural anomaly or development of any embryonic tissue resulting in morphological abnormality
small vagina decrease in the size of the female reproductive canal located between the uterus and the vulva
abnormal laryngeal mucosa morphology any structural anomaly of the mucous lining of the larynx, which is composed of squamous epithelium in the upper larynx and ciliated columnar epithelium in the lower larynx
increased urine sulfate level an increase in amount of sulfates in the urine
abnormal plasma membrane morphology any structural anomaly of the semi-permeable membrane that encloses the cytoplasm of a cell
long hair increased average length of the coat hairs
increased urine nitrite level higher than normal amount of nitrite (NO2-) in the urine, usually indicative of a urinary tract infection; commonly a result of the action of Escherichia coli, Proteus vulgaris, and other microorganisms that may reduce nitrates
genital hemorrhage bleeding into the genitals
abnormal circulating angiotensinogen level anomaly in the concentration of the serum globulin formed by the liver that is cleaved by renin to form angiotensin I
abnormal b cell apoptosis change in the timing or the number of B cells undergoing programmed cell death
decreased circulating interferon-alpha level reduction in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells
abnormal corneocyte envelope morphology any structural anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix
decreased enteric neural crest cell number a reduction in the number of neural crest cells that arise predominantly from the vagal region of the neural tube (vagal neural crest), adjacent to somites 1-7 and migrate rostro-caudally along the gastrointestinal tract to form two ganglionated plexuses of neurons and glial cells that comprise the enteric nervous system (ENS); a smaller proportion of ENCCs come from the sacral neural crest, caudal to somite 28, and migrate caudo-rostrally to colonize the distal gut
abnormal primordial ovarian follicle number abnormal numbers of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles
testis hypoplasia
abnormal prostate gland dorsolateral lobe morphology any structural anomaly of the rodent prostate lobe that lies in the triangular area between urethra and seminal vesicle
abnormal vestibular nerve morphology any structural anomaly in the part of the vestibulocochlear nerve [CN VIII] peripheral to the vestibular root; it is composed of the central processes of bipolar neurons that have the terminals of their peripheral processes on the hair cells in the ampullae of the semicircular ducts and the maculae of the saccule and utricle, and cell bodies of the vestibular ganglion
abnormal retinal melanocyte morphology any structural anomaly of the cells that produce pigment in the retina
absent acromion lack of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder
decreased oviduct weight reduction in the average weight of the tube through which the ova pass from the ovary to the uterus
increased heart ventricle size increased average size of the heart ventricles compared to the average for a particular population
dry skin Skin characterized by the lack of natural or normal moisture.
impaired spatial learning impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues
elongated metatarsal bones increased length of the five bones of the hindpaws/feet that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges
increased mammary gland tumor incidence greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period
abnormal cochlear inner hair cell number abnormal number of the flask-shaped inner hair sensory cells of the organ of Corti which are in synaptic contact with sensory as well as efferent fibers of the auditory nerve
abnormal parametrial fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament
abnormal effector t cell morphology any structural anomaly of a differentiated T cell with ability to traffic to peripheral tissues and is capable of mounting a specific immune response
nail dystrophy Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
expanded mesangial matrix
abnormal urine aldosterone level any change in the urine amount of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule
abnormal roof plate morphology any structural anomaly of the single row of specialized glial cells that occupies the dorsal midline of the developing neural tube along the entire anterior-posterior axis; the roof plate serves as a critical embryonic signaling center for the organization of dorsal neuronal cell types, and acts as a barrier preventing axons and cells migrating across the dorsal midline
abnormal bone healing defects in the restoration of integrity to bone after trauma
complete lethality during fetal growth through weaning death of all organisms of a given genotype in a population between the completion of organogenesis and weaning age (Mus: E14 to approximately 3 weeks of age)
increased lymphoblastic lymphoma incidence higher than normal incidence of diffuse lymphoma with supradiaphragmatic distribution and T lymphocytes having convoluted nuclei
distended duodenum an expansion in the volume of the portion of the small intestine that extends from the pyloris to the junction with the jejunum, as by stretching or distention
decreased eosinophil cell number fewer than normal eosinophil numbers
cerebral edema
absent nodal flow absence of the leftward movement of extra-embryonic fluid at the ventral node; nodal flow is autonomously generated by the rotation of cilia that are tilted toward the posterior on cells of the ventral node and is the central process in symmetry breaking on the left-right axis; when nodal cilia are immotile or absent, nodal flow does not occur
hypoxia reduced oxygenation of body tissues resulting in the decreased pressure of this component of body gases; commonly due to hypoxemia
impaired macrophage chemotaxis reduced diffusion or accumulation of macrophages in tissues or cells in response to a wide variety of substances released at the sites of inflammatory reactions
abnormal rhombomere 4 morphology any structural anomaly of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
hunched posture stooped low with the limbs pulled in close to the body and arched back
tongue hypoplasia
abnormal heart right ventricle size anomaly of the average size of the right ventricle compared to the average for a particular population
dilated distal convoluted tubules stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex
abnormal snout morphology any structural anomaly of the anterior facial part of the face or muzzle containing the oral and nasal regions
abnormal optic disc morphology any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve
absent cochlear hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on cochlear inner and outer hair cells
abnormal parasympathetic ganglion morphology any structural anomaly of the ganglia of the parasympathetic nervous system, including the ciliary, pterygopalatine, submandibular, and otic ganglia in the cranial region and intrinsic (terminal) ganglia associated with target organs in the thorax and abdomen
increased circulating interleukin-12 level increase in the amount in the blood of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells and plays a role in the stimulation of interferon-gamma production by T-cells and natural killer cells
thin cerebellar molecular layer reduced width of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells
clonic seizures increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle
small nasal bone reduced size of either of two rectangular bone plates forming the bridge of the nose
decreased liver free fatty acids level reduced liver concentration of the fatty acids which occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues
absent rathke's pouch absence of the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed
small alisphenoid bone reduced size of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young
ocular pterygium abnormal mass of hypertrophied bulbar subconjunctival tissue arising from the conjunctiva of the inner corner of the eye that obstructs vision by growing over the cornea towards the pupil
absent pineal gland absence of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; the pineal is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms
absent caveolae absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane
decreased trabecular bone connectivity density reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures
abnormal blinking anomaly in the normal reflex of closing the eyes frequently and rapidly
abnormal cerebellar molecular layer any structural anomaly of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells
increased interleukin-17 secretion increase in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors
uterus cysts presence of fluid-filled structures inside the lumen of the uterus; usually refers to benign growths
abnormal circulating interleukin-1 alpha level anomaly in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active
increased coping response enhanced ability to respond productively to a stressful situation
rib bifurcation forking or division of ribs, may be a result of partial rib fusions
premature neuronal precursor differentiation earlier than normal transformation of neuronal precursor cells into neurons
abnormal thyroid gland development failure or abnormality in the formation of the thyroid gland during organogenesis
head tilt condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side
increased kidney tumor incidence greater than the expected number of tumors originating in the kidney in a given population in a given time period
abnormal efferent ductules of testis morphology any structural anomaly in the small seminal ducts that lead from the testis to the head of the epididymis
abnormal periocular mesenchyme morphology any structural anomaly of the mesenchymal cells that give rise to the corneal endothelium, corneal stroma, sclera, iris stroma, ciliary muscle, ciliary stroma, and trabecular meshwork of the eye
abnormal purkinje cell number different from average number of neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex
esophagogastric junction metaplasia conversion of one differentiated cell type to another differentiated cell type at the terminal end of the esophagus and beginning of the stomach
decreased interleukin-17 secretion reduction in the production or release of a proinflammatory cytokine produced primarily by T-cells or their precursors
abnormal circulating pancreatic peptide level anomaly in the amount of the 36-amino acid pancreatic hormone in the blood that is secreted mainly by endocrine cells found at the periphery of the islets of Langerhans in response to ingestions, and regulates gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite
short frontal bone reduced length of the bone forming the forehead and roof of the eye orbit
increased thyroid carcinoma incidence greater than the expected number of a malignant epithelial neoplasms of the thyroid gland, occurring in a specific population in a given time period
abnormal frontonasal prominence morphology any structural anomaly of an unpaired facial process in the embryo formed from the tissues surrounding the forebrain vesicle that develops into the forehead and bridge of the nose/snout
decreased compensatory feeding amount decreased amount of food consumed after a period of fasting
abnormal gas homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of gaseous elements in animal tissues or blood
abnormal intestinal mucosa morphology any structural anomaly of the mucous lining of the intestine; this consists of epithelium, lamina propria, and a layer of smooth muscle cells
abnormal dermis papillary layer morphology any structural anomaly of the more superficial, thin layer of the dermis that interdigitates with the epidermis
increased level of surface class i molecules greater than normal expression of major histocompatibility complex class I molecules at the cell surface
genital tubercle hypoplasia underdevelopment or reduced size of the embryonic anlage of the external genitalia, usually due to a reduced number of cells
osteoarthritis An arthritis that has_material_basis_in worn out cartilage located_in joint.
vascular stenosis a stricture or occlusion of a lumen of vascular tissue
abnormal hair shaft morphology any structural anomaly of the cuticle, cortex and/or medulla of a hair
abnormal cellular replicative senescence anomaly in the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division
abnormal throat morphology any structural anomaly in the anterior part of the neck, in front of the vertebral column comprising the pharynx and larynx
decreased percent body fat less fat, relative to controls, as a percentage of total body weight
increased susceptibility to systemic lupus erythematosus greater likelihood that an organism will develop inflammatory connective tissue symptoms characteristic of lupus including skin rash, arthritis and inflammation of different organs
head tossing repetitive flailing of the head in multiple directions
spinning repetitive rolling of the body
incomplete caudal neuropore closure incomplete joining together of the neural folds of the caudal opening of the neural tube; failure of caudal neuropore closure results in spina bifida, the severity of which depends on how much of the spinal cord remains exposed
seizures Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
abnormal nasolacrimal duct morphology any structural anomaly of the paired channels leading from the lacrimal sacs to the inferior meatus of the nose, through which tears are conducted through the nasal cavity
abnormal first pharyngeal arch morphology any structural anomaly of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel's cartilage, trigeminal nerve, and maxillary artery
abnormal loop of henle descending limb morphology any structural anomaly of the portion of the renal tubule that constitutes the proximal part of the loop of Henle, has low permeability to ions and urea, and is highly permeable to water; it consists of an initial short thick segment lined by low simple cuboidal epithelium and a long thin segment lined by simple squamous epithelium; however, this distinction is not as important physiologically as in the ascending limb, so often the two are treated as one structure
abnormal triiodothyronine level anomaly in the amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
spleen hyperplasia overdevelopment or increased size, usually due to increased cell number, in the spleen
abnormal visual acuity any abnormality in the spatial resolution or resolving power of the visual processing system
absent neutrophils absence of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes
abnormal circulating sulfate level altered concentration of sulfate in the blood
abnormal parturition defect in the process of labor and delivery in female animals
increased susceptibility to kidney reperfusion injury an increased likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia
increased thyroxine level greater than the normal concentration of the major hormone derived from the thyroid gland; it normally affects cellular metabolism
abnormal scala tympani morphology any structural anomaly of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina
abnormal external urethral orifice morphology any structural anomaly of the external opening or orifice of the urethra through which urine and seminal fluid (in males only) leave the body; in males the meatus presents as a vertical slit normally positioned at the tip of glans penis; in females the meatus is located between the clitoris and the vagina in the vulvular vestibule of the female genitalia
abnormal male reproductive gland physiology any functional anomaly of any sex gland that is part of the male reproductive system
absent mesencephalic trigeminal nucleus missing group of sensory neurons residing in a long, narrow plate in the midbrain; axons pass with the trigeminal nerve
increased renal glomerulus apoptosis increase in the number of cells of the kidney glomerulus undergoing programmed cell death
increased heart left atrium weight more than average weight of the left atrium
abnormal chorioallantoic fusion anomaly in the process by which a highly vascularized extra-embryonic fetal membrane is formed by fusion of the chorion and allantois; in most mammals, the chorioallantois constitutes the fetal portion of the placenta
abnormal purkinje cell dendrite morphology any structural anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer
small trigeminal motor nucleus reduced size of the group of motor neurons innervating the muscles of mastication
abnormal lens development aberrant formation of the transparent structure of the eye responsible for focusing light rays
small pituitary gland An abnormally decreased size of the pituitary gland.
abnormal pituitary diverticulum morphology any structural anomaly of a tubular outgrowth of ectoderm from the stomodeum of the embryo; the outgrowth grows toward the infundibular process of the diencephalon, around which it forms a cup-like mass, giving rise to the pars distalis and pars juxtaneuralis of the hypophysis
cellular necrosis pathologic death of cells, usually from irreversible damage
submandibular gland inflammation local accumulation of fluid, plasma proteins, and leukocytes in either of the large major salivary glands situated beneath the mandible
decreased mean corpuscular volume less than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices
abnormal arteriole morphology any structural anomaly of the small diameter vessels that branch from the arteries and lead to the capillaries
myositis A myopathy characterized by muscle inflammation.
abnormal outer hair cell stereociliary bundle morphology any structural anomaly or disruption of the typical V or W-like pattern of arrangement of mechanosensitive hair bundles located at the apical end of cochlear OHCs; each hair bundle is normally composed of ~100 nonmotile, actin-filled microvilli (stereocilia) arranged in rows of increasing height and coupled to one another by morphologically distinct links: tip links, horizontal top connectors, shaft connectors, and ankle links; most hair bundles also possess a single motile kinocilium immediately adjacent to the tallest (outermost) row of stereocilia; a fifth link type, the kinocilial link, connects the kinocilium to its neighboring stereocilia
abnormal pancreatic endocrine progenitor cell proliferation anomaly in the ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division
abnormal cd4-positive, cd25-positive, alpha-beta regulatory t cell number any anomaly in the number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release
abnormal rosenthal canal morphology any structural anomaly in the winding tube of the bony labyrinth that makes two and a half turns about the modiolus of the cochlea; it is divided incompletely into two compartments by a winding shelf of bone, the bony spiral lamina
abnormal pr interval anomaly in the length of time between the beginning of atrial depolarization and the beginning of ventricular depolarization, measured by the interval from the beginning of the P wave to the beginning of the QRS complex
abnormal enterocyte apoptosis change in the timing or the number of enterocytes undergoing programmed cell death
abnormal renal glomerulus basement membrane thickness increased or decreased width of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule
abnormal superior vagus ganglion morphology any structural anomaly of the upper ganglion of the vagus nerve located at the jugular foramen
abnormal melanoblast morphology any structural anomaly of a cell that originates from the neural crest and differentiates into a pigment cell
increased forebrain size greater than average size of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)
retina microaneurysm focal dilation of arteriocapillary junctions in the retina
coiled sperm flagellum abnormal twisting of the sperm flagellum into coils or spirals
abnormal urinary bladder weight anomaly in the average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls
decreased circulating interleukin-2 level reduction in the amount in the blood of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes
fused carpal bones Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
increased circulating tumor necrosis factor level greater amount in the blood of a serum glycoprotein produced by activated macrophages and NK cells and involved in initiating local inflammatory responses, particularly by its action on the endothelium of local blood vessels; its actions result in increased vascular permeability and induction of expression of adhesion molecules on the endothelium
abnormal single cell response threshold any change in the value at which a stimulus first elicits a recordable response recorded in a single cell
abnormal dermis reticular layer morphology any structural anomaly of the thicker, deeper layer of the dermis, comprised of criss-crossing collagen fibers that form a strong elastic network and also containing blood and lymph vessels, nerves and nerve endings, and hair follicles
abnormal body height any anomaly in the shoulder to floor distance compared to controls
decreased mast cell degranulation reduction in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell
urinary bladder obstruction any impediment or blockage of the musculomembranous elastic bag serving as a storage place for urine
ventricular premature beat a heartbeat is initiated by abnormal electrical activation originating in the heart ventricles rather than by the sinoatrial node, the normal heartbeat initiator, before a normal heartbeat would occur
enhanced behavioral response to morphine increased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response
ectopic hippocampus pyramidal cells the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus
abnormal kidney epithelial cell primary cilium physiology any functional anomaly of the non-motile primary cilia found on renal epithelial cells and thought to act as a mechanical sensor to detect renal tubular fluid; impaired mechanical response of primary cilia to physiological fluid flow, or abnormalities in intracellular Ca2+ increase in response to fluid stress may alter renal (tubular) cell proliferation and differentiation and lead to renal cyst formation
abnormal optic stalk morphology any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain
abnormal neural tube mantle layer morphology any structural anomaly of the layer of glia and differentiating neurons that will form the gray matter of the spinal cord; this lies between the ventricular and marginal layers and includes the basal and alar plates
small alveolar lamellar bodies decreased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant
increased dendritic cell number greater number of a cells of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
increased lung tissue damping increased value of the respiratory mechanical parameter (G) that is closely related to tissue resistance and reflects the energy dissipation in the lung tissues
eyelids open at birth open eyes instead of closed at perinatal stage; failure of the upper and lower thin folds of skin and muscle that cover the exposed portion of the eye to fuse completely together during development and an individual is born with the eye(s) uncovered leading to degrees of injury and blindness
abnormal posterior cardinal vein morphology any structural anomaly of the two paired veins draining the caudal part of the body
abnormal renal tubule epithelial cell primary cilium morphology any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor
shortened circadian period decrease in the cycle length expressed when exposed to constant conditions without temporal cues
abnormal intramembranous bone ossification An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, perietal, occipital, and temporal bones, and the clavicles) are formed.
small basioccipital bone reduced size of the bone in the base of the cranium, frequently forming a part of the occipital in the adult, but usually distinct in the young
abnormal ear distance/ position anomaly in the space between or the placement of the outer ears
decreased glomerular capillary number reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles
abnormal mitochondrion morphology Any structural anomaly of the mitochondria.
increased susceptibility to injury greater than the normal reaction to trauma, especially that by physical means
increased pre-pro b cell number increased number of pro-B cells that are CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative; this cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive
abnormal maxillary sinus morphology any structural anomaly of the paired evaginations of the mucous membrane of the nasal cavity into the air space located within the maxilla
abnormal otic vesicle development anomaly in the formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear
disproportionate dwarf abnormally undersized with disproportionate body parts; usually with more significant shortening of the limbs in proportion to the trunk size
impaired behavioral response to xenobiotic decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
decreased urine protein level less than the normal amount of proteins in the urine
abnormal brown adipose tissue physiology any functional anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes
small floor plate reduced size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube
renal glomerulus lipidosis presence of lipid deposits and/or lipid-laden foam cells in the renal glomerular tufts
increased t-helper 17 cell number increased number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17
thick mitral valve cusps an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness
abnormal lymph node b cell domain morphology any structural anomaly of the part of the lymph node cortex in which B lymphocytes home to primary follicles to survey follicular dendritic cells (FDCs); antigen stimulated B cells proliferate and differentiate within the follicles forming distinctive germinal centers
abnormal circulating lactate dehydrogenase level abnormal blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types
multiflagellated sperm presence of more than one sperm flagellum, displaying either one common origin from the sperm head or multiple origins from the same sperm head
reduced nmda-mediated synaptic currents reduction in the measured amplitude, current density or duration of response to stimulation of NMDA receptors
abnormal plasmacytoid dendritic cell number anomaly in the number of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli
abnormal urinary bladder morphology any structural anomaly of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
abnormal retinal rod cell morphology any structural anomaly of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane; rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision
abnormal digestive system development abnormal formation of the organ system that converts ingested food to nutrients and energy
circling repeated movement in a circle; often associated with inner ear defects
abnormal auditory summating potential any anomaly in the dc shift in the waveform sustained for the duration of a toneburst stimulus that represents the depolarization of sensory hair cells in the cochlea; positive summating potentials (SPs) reflect activity of basal turn hair cells while negative SPs are derived from hair cell activity in the apical turn; negative SPs tend to be obtained at low frequencies and low intensities of stimulus, while positive SPs are recorded in response to high frequencies and high intensities
abnormal paired-pulse inhibition defects in the suppressive response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of inhibition of neurotransmitter release at the second stimulus
abnormal aortic arch and aortic arch branch attachment any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery
abnormal retinal ganglion cell morphology any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain
epididymis epithelium degeneration pathological deterioration of the layer of secretory cells which lines the epididymis
bleb presence of a blister-like, nearly hemispherical structure filled with air, serous fluid or blood
craniorachischisis Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system.
abnormal postnatal growth anomaly in reaching a developmental stage or stages after birth
abnormal brain development aberrant or incomplete differentiation of the brain
absent trophectoderm absence of the outermost layer of cells in the blastodermic vesicle, which will develop into the trophoblast layer and then contact the endometrium and take part in establishing the embryo's means of nutrition
thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
thin myometrium reduced thickness of the smooth muscle coat of the uterus, which forms the main mass of the organ and surrounds and supports the endometrium
decreased memory t cell number reduction in the number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive
degenerate molars deterioration or loss over time of the molars
abnormal memory t cell number deviation from the normal number of distinctly differentiated long-lived T cells that have the phenotype CD45RO-positive and CD127-positive
abnormal miniature inhibitory postsynaptic currents defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse
abnormal osteocyte morphology any structural anomaly of a mature osteoblast that has become embedded in the bone matrix (osteoid) in small cavities called lacuna and is connected to adjacent osteocytes via protoplasmic projections called canaliculi
decreased cochlear hair cell stereocilia number decreased number (or less than the expected 100 or so) of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner and outer hair cells
abdominal aorta aneurysm a protruding sac formed by the dilation of the wall of the part of the descending aorta that begins at the diaphragm and continues to the point of the common iliac arteries, resulting from a weakening of the vessel wall
absent lamina terminalis absence of the anterior-most (rostral) portion of the wall of the neural tube, formed by closure of the anterior neuropore; agenesis of the lamina terminalis results in anencephaly
decreased number of peritubular myoid cells reduced number of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule
abnormal axillary lymph node morphology any structural anomaly of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region
syndromic hearing loss a form of progressive hearing loss that is usually associated with malformations of the external ear and other inherited signs and symptoms
abnormal costal cartilage morphology any structural anomaly of the nonvascular, resilient, flexible hyaline connective tissue that connects the end of a true rib to the sternum or the end of a false rib with the with the lower border of the costal cartilage above it
abnormal splenocyte morphology any structural anomaly of a cell of the spleen
abnormal circulating chemokine level deviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes in the circulation
arthritis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
abnormal cerebellum posterior vermis morphology any structural anomaly of the posterior portion of the narrow middle zone between the two hemispheres of the cerebellum that is located posterior to the primary fissure
brittle hair Fragile, easily breakable hair, i.e., with reduced tensile strength.
abnormal thalamus morphology any structural anomaly of the large ovoid mass of paired bodies containing mostly grey matter and forming part of the lateral wall of the third ventricle of the brain
abnormal hair medulla air spaces air spaces between septa-forming cells of hair medulla are larger or smaller than normal
abnormal zigzag hair morphology any structural anomaly or amount of the truncal hairs that have two or more sharp bends with diameter constrictions at the bends, and contain one air cell in the medulla
increased tongue size
increased heart left ventricle size greater than average size of the left ventricle
abnormal xenobiotic induced morbidity/mortality any anomaly in induction of a diseased state or death caused by a foreign compound
increased bone marrow cell number increased number of cells that make up the core cavities of bones when compared to the normal state
decreased embryonic neuroepithelium thickness reduced width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells
decreased igd level less than normal immunoglobulin class D level
skeletal muscle fiber atrophy acquired diminution of the size of skeletal muscle fibers associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation
absent presphenoid bone absence of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult
absent right lung accessory lobe absence of the right lung lobe which lies against the diaphragm and has a considerable volume residing in the left hemi-thorax
abnormal kidney epithelium morphology any structural anomaly of the cellular avascular layer of the kidney luminar surfaces
abnormal pons morphology any structural anomaly of the band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum
absent circulating noradrenaline absence of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
small epididymis decrease in the average size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
decreased transitional stage t2 b cell number reduced number of a type of transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, and is located in the splenic B follicles
abnormal b cell anergy any anomaly in the process contributing to anergy in B cells, a state of functional inactivation which is part of B cell tolerance induction
mortality/aging
increased b cell proliferation greater than normal expansion rate of the B cell population by cell division in response to stimuli
obese
novel environmental response-related retropulsion when confronted with a novel stimulus, subjects exhibit involuntary backward walking
complete embryonic lethality at implantation death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5)
abnormal rr interval anomaly in the length of the interval between an R wave and the next R wave; the RR interval is the inverse of the heart rate
decreased small intestinal microvillus size reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold
decreased striatum area reduced size of a large cluster of dopaminergic nerve cells, consisting of the caudate nucleus and the putamen, that controls movement, balance, and walking
abnormal somite size atypical size of any of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo
decreased trophoblast glycogen cell number reduced number of the glycogen-accumulating trophoblast cells that arise in the junctional zone of the placenta
abnormal pancreatic acinar cell zymogen granule morphology any structural anomaly of a membrane-bounded, cytoplasmic secretory granule found in pancreatic acinar cells and contains inactive digestive enzyme precursors
abnormal meibomian gland development aberrant formation or incomplete differentiation of the sebaceous glands located at the rim of the eyelids inside the tarsal plate and responsible for the supply of meibum, an oily substance that prevents evaporation of the eye's tear film; in mice, meibomian gland development is initiated around E18.5 with the formation of an epithelial placode and mesenchymal condensation, similar to that observed in hair follicle development; invagination of the epithelium into the developing mesenchyme then continues from birth to about P3 with initial branching of the epithelial cord detected at P5; by P8 the developing meibomian gland shows extensive ductal branching and the formation of distinct acini with mature meibomian glands present by P15 or eyelid opening
impaired basement membrane formation defect in the development of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components
abnormal basophil physiology any functional anomaly of the leukocyte that contains granules that stain with basic dyes
increased white adipose tissue amount increased quantity of fat-storing cells/tissue
decreased nk cell degranulation reduction in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells
decreased t cell number fewer than normal T cell numbers
abnormal cerebellum vermis lobule ii morphology The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents.
abnormal tubuloglomerular feedback response any anomaly in the blood flow control mechanism that is operated in the juxtaglomerular apparatus of the kidney and involved in renal autoregulation by limiting changes in the glomerular filtration rate. TGF responds to changes in the concentration of NaCl in the tubular fluid at the level of the macula densa
abnormal b wave amplitude anomaly in the size (height or maximum displacement) of the b wave as measured in the electroretinogram
abnormal urine organic cation level any change in the amount of organic cations in the urine
absent long term depression lack of the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of CA1 neurons
anhedonia Inability to experience pleasure activities usually found enjoyable.
decreased circulating aldosterone level A decreased level of aldosterone in the blood.
decreased renal tubule apoptosis decrease in the number of renal tubule cells undergoing programmed cell death
absent thymus cortex lacking the outer part of the thymus lobule which surrounds the medulla and is normally composed of closely packed lymphocytes
decreased interleukin-1 secretion reduction in the production or release of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens
increased embryonic neuroepithelial cell proliferation increase in the expansion rate of the cells of the embryonic neuroepithelium by cell division
empty decidua capsularis the implanted embryo normally covered opposite the placenta by uterine mucosa and epithelium following implantation is missing, suggesting the embryo died early during implantation but after the decidual response and modification of uterine stromal cells
lymphoid hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, in lymphatic tissue
abnormal embryo attachment any anomaly in the process whereby the blastocyst anchors to the uterine luminal epithelium and cannot be dislodged by flushing
increased eosinophil cell number
cardiac interstitial fibrosis formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process
abnormal myogenesis anomaly in embryonic formation of muscle cells or fibers
increased gonadotroph cell number greater number of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)
abnormal eye morphology A structural anomaly of the eye.
short perineum reduced length of the area between the genital organs and the anus that lies beneath the pelvic diaphragm
increased circulating prolactin level greater than expected blood concentration of the hormone that stimulates milk secretion
abnormal kidney collecting duct morphology any structural anomaly of the kidney ducts lined by simple cuboidal epithelium that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electrolyte and acid-base balance; each cortical collecting duct joints with other ducts to make a medullary connecting duct, which eventually drains into a papillary duct, emptying urine into the renal pelvis for drainage into the ureter
abnormal olfactory bulb granule cell morphology any structural anomaly of the main intrinsic GABAergic neuron in the granule cell layer of the main olfactory bulb; dendrites of these cells receive synaptic input from mitral and tufted cell lateral dendrites in the external plexiform layer, and have synaptic outputs on those dendrites through reciprocal dendrodendritic synapses
lenticonus A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
short tail reduced length of tail compared to control
urinary incontinence Loss of the ability to control the urinary bladder leading to involuntary urination.
abnormal lumbar dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the lumbar vertebrae
abnormal sensorimotor gating malfunction of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)
abnormal somatic sensory system morphology any structural anomaly of the neural tissue involved in the transmission of sensory signals
impaired fibroblast cell migration failure of cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium
cardiac ischemia inadequate blood flow to the heart; may cause infarction and is usually caused by coronary artery disease
abnormal coccygeal vertebrae morphology
absent tooth primordium missing the cells that will give rise to teeth
abnormal cell chemotaxis any anomaly in the directed movement of a motile cell guided by a specific chemical concentration gradient; movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis)
partial embryonic lethality between somite formation and embryo turning the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)
disorganized photoreceptor inner segment derangement of the pattern of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
abnormal neural crest cell apoptosis change in the timing or the number of neural crest cells undergoing programmed cell death
xerostomia Dryness of the mouth due to salivary gland dysfunction.
abnormal axon pruning defects in the developmental elimination of axons that fail to participate in an active neuronal circuit by retraction, degeneration, shedding or other mechanism
mammary gland hyperplasia overdevelopment or increased size of the mammary gland, usually due an increased number of cells
abnormal pinna reflex anomaly in the response to an auditory stimulus by a characteristic ear twitch
abnormal glomerular capillary morphology any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus
abnormal hind foot hair pigmentation an anomaly in the expected color gradient of hair covering the metatarsals and phalanges often differentially expressed in females and males
cochlear inner hair cell degeneration degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti
abnormal spinal cord dorsal column morphology any structural anomaly of the wedge-shaped fiber bundle of white matter in the dorsomedial side of the spinal cord that is made up of the fasciculus gracilis and fasciculus cuneatus; it is part of the ascending posterior column-medial lemniscus pathway that is important for well-localized fine touch and conscious proprioception
neuronal intranuclear inclusions presence of aggregates of protein within the nuclei of neurons; frequently seen in Huntington's disease
abnormal coronary vessel morphology any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation
short photoreceptor inner segment decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
abnormal mucous neck cell morphology any structural anomaly of the mucin-producing epithelial cells present in the neck of the gastric glands
abnormal pre-pro b cell morphology any structural anomaly of a pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive
scapular bone foramen presence of a hole in either or both of the large, flat bones of the back part of the shoulder
increased ear pigmentation visually detectable excess of pigment present in the outer ear
abnormal sertoli cell morphology any structural anomaly of the supporting cells of the seminiferous tubule epithelium that create the blood-testes barrier and enable spermatogenesis
abnormal posterior primitive streak morphology any structural anomaly of the posterior region of the vertebrate primitive streak which gives rise to the extraembryonic mesoderm
abnormal endolymphatic duct morphology any structural anomaly of the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac
conductive hearing loss An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
decreased neuronal stem cell self-renewal an decreased rate in the process by which stem cells divide and proliferate to make more stem cells, perpetuating an decrease in the stem cell pool; self-renewal is division with maintenance of the undifferentiated state
abnormal pulmonary respiratory rate deviation from the normal number of breaths per minute
abnormal gestational length anomaly in the usual duration of time between when a fertilized egg implants in the wall of the uterus and the birth of offspring
enlarged cecum increased size of the large sac at the ileum and large intestine junction
abnormal thymus medulla morphology any structural anomaly of the inner area of thymus lobules
absent cartilage absence of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the thorax, and tubular structures, but which also comprises most of the skeleton in early fetal life
fused dorsal root ganglion loss of DRG spacing pattern and the appearance of two or more ganglia as one
abnormal long bone epiphysis morphology any structural anomaly of the rounded end of a long bone
abnormal retinal cone cell inner segment morphology any structural anomaly of the retinal cone cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region
abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.
increased salivary adenocarcinoma incidence
thick epidermis increase in the width of the epidermal cell layer in the skin
abnormal suprachiasmatic nucleus morphology any structural anomaly of an ovoid densely packed collection of small cells of the anterior hypothalamus lying close to the midline in a shallow impression of the optic chiasm; it receives input from the retina and influences neuroendocrine function
abnormal cortical plate morphology any structural anomaly of the outer neural tube region in which post-mitotic neuroblasts migrate along radial glia to form the adult cortical layers
absent molar root absence of the part of a molar tooth that is implanted in the gum; mandibular and maxillary molars usually have two and three roots, respectively
abnormal hormone-sensitive lipase activity anomaly in the ability to catalyze the reactions: diacylglycerol + H2O = monoacylglycerol + a carboxylate; triacylglycerol + H2O = diacylglycerol + a carboxylate; and monoacylglycerol + H2O = glycerol + a carboxylate
abnormal motile cilium morphology any structural anomaly of a cilium which has a variable arrangement of axonemal microtubules, contains molecular motors, and beats with a characteristic whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface; motile cilia are typically found in multiple copies on epithelial cells that line the lumenal ducts of various tissues and may also function as sensory organelles
absent maxillary shelf missing bony projection of the maxilla that normally fuses with palatine shelf to form secondary (hard) palate
abnormal male germ cell apoptosis presence of male germs cells that undergo programmed cell death
abnormal epididymis size anomaly in the size of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
increased liver regeneration greater than the normal ability of liver to regenerate healthy tissue following partial hepatectomy
increased large intestine adenocarcinoma incidence higher than normal incidence of a malignant neoplasm of epithelial cells in the large intestine
abnormal object recognition memory anomaly in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time
palatine bone horizontal plate hypoplasia underdevelopment, usually due to a deficiency in the number of cells, of the bony plate of the palatine bone that normally fuses with maxillary shelf to form secondary (hard) palate
abnormal catecholamine level any anomaly in the amount of catecholamines, including adrenaline, noradrenaline and L-dopamine; catecholamines are act as hormones or neurotransmitters and are derived from the amino acid tyrosine
total anomalous pulmonary venous connection
increased renal glomerulus lobularity distortion of the renal glomerular architecture usually accompanied by increased mesangial cell proliferation and following crowding of the proliferated cells towards the axis of the capillary loops and peripheral recanalization, giving the glomerular tuft a lobular or hypersegmented appearance
decreased interleukin-12b secretion reduction in the production or release of the p40 cytokine subunit that is a component of both interleukin-12 and interleukin-23
choroid plexus hyperplasia overdevelopment or increased size, usually due an increased number of cells located in the infoldings of blood vessels of the pia mater covered by a thin coat of ependymal cells that form tufted projections into the third, fourth, and lateral ventricles of the brain
absent hair follicle pheomelanosome pheomelanin yellow pigment is not present in pheomelanosomes of the hair follicle
flattened snout a snout flattened laterally along the whole length without the appearance of distinctive curvature
abnormal basal lamina morphology any structural anomaly of the sheet of extracellular matrix characteristically situated under epithelial cells, around muscles, nerves, capillaries, and fat cells, and situated between these elements and the underlying or surrounding connective tissue
increased mortality induced by gamma-irradiation greater sensitivity to doses of ionizing radiation
increased sebaceous gland number greater than normal numbers of the holocrine glands that secrete sebum into the hair follicles, or in hairless areas into ducts
enhanced long term potentiation greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells
decreased susceptibility to neuronal excitotoxicity less than normal amount of neuronal cell death following exposure to a neurotoxic compound, such as kainate-induced neuronal cell death mediated via a glutamate excitotoxic process
iris coloboma A coloboma of the iris.
glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
abnormal respiration anomaly in the movement of gases into and out of the lung
abnormal vagina development abnormal morphogenesis of the female reproductive canal located between the uterus and the vulva
abnormal skeletal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.
abnormal forced expiratory flow rates anomaly in the rates of airflow during forced vital capacity determination
abnormal right lung morphology any structural anomaly of the part of the organ of respiration located on the right side of the body and consists of the caudal, cranial, middle and accessory lobes
abnormal lateral nasal prominence morphology any structural anomaly of the lateral area of the two branches of a horseshoe-shaped mesenchymal swelling in the future nasal region of the embryo; it separates the olfactory pit from the developing eye and the ala of the nose/snout develops from it
abnormal sarcolemma morphology any structural anomaly in the plasma membrane of a muscle fiber that is capable of conducting electrical impulses
absent thyroid gland lack of the endocrine gland that is normally located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin
abnormal vertebral lamina morphology any structural anomaly of two broad plates directed dorsomedially from the pedicles; these fuse at the dorsal midline, and complete the dorsal wall of the vertebral foramen
abnormal small intestine crypts of lieberkuhn morphology any structural anomaly of the parallel, tubular, epithelial pits (crypts) with openings at the bases of the small intestinal villi; their thin walls are formed by columnar epithelial cells: mostly undifferentiated stem and intermediate cells and an increasing number of mucus-secreting goblet cells as the small intestine proceeds distally, all of which migrate out of the glands onto the villi, but also protein- (enzyme-) secreting Paneth cells that remain in the glands
thin lip lips having a reduced amount of soft tissue
abnormal postimplantation uterine environment failure of the uterus to undergo the changes necessary to support pregnancy following implantation of the embryo
increased thymus tumor incidence greater than the expected number of neoplams in the thymus occurring in a specific population in a given time period
decreased gonadal fat pad weight less than average weight of the encapsulated adipose tissue associated with the ovaries or testes
short squamosal bone length reduction of the thin, platelike part of the temporal bone
myopia A refractive error characterized by the inability to see farther objects clearly.
reduced male fertility reduced ability of male to produce live offspring
sparse vibrissae few and widely spaced stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
abnormal spinal cord white matter morphology any structural anomaly of the regions of the spinal cord that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites
abnormal retinal cone bipolar cell morphology any structural anomaly of the retinal bipolar cells that connect to both ganglion and amacrine cells
absent cerebellum fissure absence of the deep furrows which divide the lobules of the cerebellum, including the postcentral, primary and secondary furrows
pituitary gland hyperplasia overdevelopment or increased size, usually due to increased cell number, of the pituitary gland
abnormal placenta size anomaly in the size or shape of the organ of metabolic interchange between fetus and mother
double kidney pelvis
abnormal cajal body morphology alteration in structure, number or location of subnuclear structures involved in snRNP biogenesis and in the trafficking of snoRNPs and snRNPs
abnormal olfactory system physiology any functional anomaly of the system relating to smell
abnormal cd8-positive, gamma-delta intraepithelial t cell morphology any structural anomaly of a CD8-positive, gamma-delta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
abnormal neural crest cell physiology any functional anomaly in the complex process by which multipotent neural crest progenitors acquire migratory and invasive properties, emigrate from the dorsal aspect of the neural tube, migrate along distinct pathways, and differentiate into diverse cell types
abnormal cornea morphology any structural anomaly of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure
overexpanded pulmonary alveoli expanded volume of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries
increased inferior colliculus size enlargement of the paired inferior eminence of the mesencephalic tectum
small premaxilla reduced size of the anterior and interior portion of the maxilla
abnormal osteoblast physiology any functional anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell
absent optic tract absence of the band of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region
abnormal auchene hair morphology any structural anomaly of truncal hairs having a single constriction and bend about midway along the hair shaft, and contain two or more air cells in the medulla
loss of gabaergic neurons loss of the neurons that utilize gamma-aminobutyric acid as a neurotransmitter, commonly due to an apoptotic event
abnormal anal canal morphology any structural anomaly in the terminal portion of the alimentary canal, which begins at the anorectal junction, where the rectal ampulla abruptly narrows as the alimentary canal pierces the pelvic diaphragm (levator ani), and ends at the anal verge, when the anoderm that lines the lower anal canal changes to hairy perianal skin; surrounded by the internal and external anal sphincters
abnormal t-helper 17 cell morphology any structural anomaly of a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17
insensitivity to parathyroid hormone no changes in calcium homeostasis in response to endogenous or exogenous hormone
decreased circulating ghrelin level less than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from the anterior pituitary gland
increased fear-related response greater emotional response related to anticipation of specific pain or danger
aversion to addictive substance purposeful avoidance of an addictive substance due to dislike
decreased susceptibility to bacterial infection reduced likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
increased circulating haptoglobin level increased amount in the blood of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity
brainstem hemorrhage bleeding into the brain stem
absent immature b cells absence of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity
cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
absent hair follicle inner root sheath absence of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer and the inner root sheath cuticle
vascular inflammation local accumulation of fluid, plasma proteins, and leukocytes in a blood vessel
abnormal uterine horn morphology any structural anomaly of either one of the pair of tubular extensions from the uterine body where the uterus and the uterine tubes meet; uterine horns are anterior Mullerian duct-derived structures
increased porphyrin level elevated concentration of porphyrins or protoporphyrins
abnormal splenocyte proliferation anomaly in the ability of a splenocyte cell population to undergo expansion by cell division
decreased erythrocyte magnesium level decrease in the amount in red blood cells of magnesium
decreased keratinocyte proliferation reduction in the expansion rate of keratinocytes by cell division
increased fatty acid level elevated concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated
abnormal body temperature deviation in the level of heat natural to a living being
absent dorsal root ganglion absence of the groups of sensory nerve cell bodies located on the dorsal spinal roots within the vertebral column
patent ductus venosus failure of the embryonic connection between the portal vein and inferior vena cava formed by the left umbilical vein (that allows oxygenated blood to bypass the developing liver) to close in adults
abnormal atrium myocardium morphology any structural anomaly of the atrial part of middle layer of the heart, comprised of involuntary muscle
abnormal plasma cell number anomaly in the number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin
decreased circulating copper level less than the normal concentration of copper in the blood
abnormal hyperactivated sperm motility any anomaly in the type of sperm motility that is observed in most sperm recovered from the site of fertilization and is thought to help sperm detach from the oviductal epithelium, reach the site of fertilization, and penetrate the cumulus and zona pellucida of the oocyte; normally, once sperm from most species become hyperactivated, the flagellar beat becomes asymmetrical and higher amplitude, resulting in circular or figure-eight trajectories
decreased neuron number fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses
decreased hepatocyte proliferation reduction in the expansion rate of the hepatocyte cell population by cell division
increased lipoprotein lipase activity greater ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate
abnormal mammary gland pattern aberration in the spacing and arrangement of mammary glands that differentiate during early embryogenesis as it relates to the norm for the species
abnormal endometrium morphology any structural anomaly of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy
double inlet heart left ventricle
pleural effusion The presence of an excessive amount of fluid in the pleural cavity.
increased noradrenaline level greater than normal amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
cochlear hair cell degeneration degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve
abnormal eosinophil differentiation atypical production of or inability to produce the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin and is involved in clearance of parasitic infections and in allergic reactions
decreased blood urea nitrogen level low circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function
abnormal circulating estradiol level aberration in the blood concentration of this most potent estrogen
lung inflammation
decreased circulating complement protein level less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
abnormal anxiety-related response altered emotional response related to anticipation of a non-specific threat
absent digestive secretion failure to produce and/or release a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system
increased anti-nuclear antigen antibody level elevated level of antibodies to nuclear antigens present in the sera
abnormal conditioned emotional response anomaly in an emotional response that has been acquired by conditioning
heart hyperplasia overdevelopment or increased size of the heart, usually due an increased number of cells
enlarged uterus
abnormal neurocranium morphology any structural anomaly of the bones of the skull enclosing the brain
small superior glossopharyngeal ganglion reduced size of the upper ganglion of the glossopharyngeal nerve located at the jugular foramen
abnormal circulating glucagon level anomaly in the blood concentration of the peptide hormone secreted by the alpha cells of the pancreas that normally plays an important role in regulation of blood glucose concentration, ketone metabolism, and several other biochemical and physiological processes
multifocal hepatic necrosis morphological changes resulting from multiple localized areas of pathological death of liver tissue; usually due to irreversible damage
decreased secondary ovarian follicle number fewer than normal numbers of the ovarian follicle in which the primary oocyte attains its full size and is surrounded by an extracellular glycoprotein layer (zona pellucida) that separates it from a peripheral layer of follicular cells permeated by one or more fluid-filled antra; the primary oocyte occupies the cumulus oophorus while the theca of the follicle develops into internal and external layers
absent visual evoked potential absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness
increased circulating serum albumin level
abnormal functional residual capacity anomaly in the volume of air remaining in the lungs at the end of a normal expiration
abnormal mesendoderm development failure or abnormality in the formation of the embryonic cell layer that gives rise to both the endoderm and mesoderm
abnormal circulating pyruvate kinase level abnormal concentration in the blood of the phosphotransferase in the glycolytic pathway that catalyzes the transfer of phosphate from phosphoenolpyruvate to ADP, forming ATP and p; deficiency results in hemolytic anemia
abnormal intraepithelial t cell morphology any structural anomaly of a T cell present in columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
suppressed circulating follicle stimulating hormone level repression of secretion into the blood of FSH, the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis
abnormal neural plate morphology any structural anomaly of the flat, thickened layer of ectodermal cells in the neuroectodermal area of the embryo's dorsal surface that develops into the neural tube and neural crest
thyroid hypoplasia Developmental hypoplasia of the thyroid gland.
ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
abnormal immune system organ morphology any structural anomaly of lymphoid organs
decreased trabecular bone thickness thinner than normal bone with a lattice-like or spongy structure
abnormal right lung middle lobe morphology
mitral valve regurgitation
absent horizontal cells absence of the laterally interconnecting neurons in the outer plexiform layer of the retina that connect rods of one part of the retina with cones in another part of the retina
abnormal survival deviation from the expected viability or life span of an organism
abnormal ovulation cycle any anomaly in the type of sexual cycle seen in female mammals, with physiologic changes in the endometrium that recur at regular intervals during the reproductive years
abnormal kidney collecting duct intercalated cell morphology any structural anomaly of any of the functionally distinct subtypes of cells (alpha or beta) found on the kidney collecting duct epithelium that regulate acid-base homeostasis and play an important role in the kidney's response to acidosis and alkalosis; alpha-intercalated cells secrete acid whereas beta-intercalated cells secrete base; metabolic acidosis results in the conversion of beta- cells to alpha-intercalated cells giving the kidney a greater ability to secrete protons and return pH to the normal range
abnormal liver size anomaly in the average size of the liver
abnormal mucociliary clearance anomaly in the mechanism that removes mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands
decreased saturated fatty acid level reduced concentration of saturated aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; saturated fatty acids commonly have a chain of 4 to 28 carbons which contains no ethylenic or other unsaturated linkages between carbon atoms
decreased trabecular bone volume decrease in the amount of space occupied by trabecular bone tissue in the skeleton
abnormal hyoid bone body morphology any structural anomaly of the main curve of the hyoid bone, from which the horns extend
abnormal pancreatic beta cell mass anomaly in the total physical bulk or volume of a pancreatic beta cell compared to the normal state
abnormal lung epithelium morphology any structural anomaly of the epithelial layer of the lung
abnormal transitional stage t1 b cell morphology any structural anomaly of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative
abnormal zona fasciculata morphology any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone)
abnormal primary vitreous morphology any structural anomaly in the fibrovascular mesodermal tissue located between the optic cup and lens vesicle that normally regresses during the development of the vitreous body
absent urinary bladder absence of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys
abnormal vitamin absorption any anomaly in the ability to take in any of a group of organic substances, present in food, that are essential to normal metabolism
decreased digestive secretion reduction in the production and/or release of a physiologically active substance (usually but not exclusively in liquid form) from a cell or a gland of the digestive system
atrial septal defect Xref MGI.
abnormal pulp cavity morphology any structural anomaly of the central hollow space of a tooth
decreased plasma cell number reduced number of terminally differentiated, post-mitotic, short-lived cells of the B cell lineage devoted to producing large amounts of immunoglobulin
abnormal dosage compensation anomaly in the process of compensating for the two-fold variation in X:autosome chromosome ratios between sexes by a global activation or inactivation of all, or most of, genes on one or both of the X chromosomes
abnormal lymphatic vessel morphology any structural anomaly of the network of vessels which carries lymph around the body
abnormal cellular extravasation any anomaly in the migration of leukocytes from the blood vessels into the surrounding tissue
abnormal myeloid leukocyte morphology any structural anomaly of a cell of the monocyte, granulocyte, or mast cell lineage
abnormal interferon secretion anomaly in the production or release of proteins secreted by vertebrate cells in response to a wide variety of inducers; they confer resistance against many different viruses, inhibit proliferation of normal and malignant cells, impede multiplication of intracellular parasites, enhance macrophage and granulocyte phagocytosis, augment natural killer cell activity, and show several other immunomodulatory functions
abnormal motor nerve collateral sprouting aberrant response of a motor neuron to form new neuritic processes (sprouts) that emerge from the nodes of Ranvier or terminal arborizations in response to nerve injury (such as denervation), application of nerve toxin, or muscle inactivity (usually due to disease)
abnormal submandibular gland physiology any functional anomaly of either of the large major salivary glands situated beneath the mandible
abnormal skin condition any anomaly in the state or quality of the skin
abnormal testis physiology any functional anomaly of the male reproductive glands
abnormal mammary gland physiology any functional anomaly of the compound, alveolar and apocrine milk-secreting gland that lies within the breast
epidermal hyperplasia overdevelopment or increased size, usually due an increased number of cells in the epidermis
decreased liver regeneration less than the normal ability of liver to regenerate healthy tissue following partial hepatectomy
decreased respiratory mucosa goblet cell number reduced number of the cells of the respiratory epithelial lining that produce and secrete mucins
decreased systemic arterial blood pressure
abnormal glycogen homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of glycogen, a readily converted carbohydrate reserve found in most tissues of the body, especially liver and muscle
absent heartbeat lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)
inner cell mass degeneration a retrogressive impairment of function or destruction of the cells of the blastocyst that develop into the body of the embryo
abnormal dosage compensation, by inactivation of x chromosome anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex
abnormal pancreatic duct morphology any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum
abnormal ovary size anomaly in the average size of the female reproductive gland containing the germ cells
abnormal oogenesis atypical formation or failure to form the female germ cells
hindbrain hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the part of the brain developed from the posterior of the three primary brain vesicles of the embryonic neural tube from which the metencephalon and myelencephalon are derived
abnormal paired-pulse facilitation defects in the enhanced response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to lack of increase of neurotransmitter release at the second stimulus
abnormal pulmonary vascular resistance deviation from the normal force opposing blood flow in the lung blood vessels
absent retinal ganglion layer absence of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain
small proamniotic cavity reduced size of the cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds
increased leukemia incidence
nuclear cataracts a lens opacity located in the dense, central part of the lens
ventricular septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
abnormal manchette morphology any structural anomaly of the conic array of microtubules that invests the posterior nucleus of a spermatid, and is believed to play a role in definitive posterior head-shaping events during spermiogenesis
abnormal mitochondrial proliferation anomaly in the expansion rate of the cellular organelles responsible for energy production by division
decreased vitamin d level reduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)
increased urine insulin level a greater amount of insulin in the urine compared to the normal state
inner ear cysts abnormal membranous sacs in any component of the labyrinth, including the semicircular canals, vestibule and cochlea
rough coat coat does not have the usual smooth appearance
decreased susceptibility to induced joint inflammation reduced or absent inflammatory response in the joints due to chemical or mechanical agents
megacephaly
decreased pulmonary endothelial cell surface reduced total area of the semipermeable membrane that encloses the cytoplasm of a pulmonary endothelial cell
large lymphoid organs increased size of lymphatic tissues
decreased body length decreased measure of the head and trunk (head, thorax and abdomen) in the rostral-caudal direction
abnormal peripheral nervous system regeneration changes in the ability or inability of healthy peripheral nervous system tissue to regenerate following injury or disease
abnormal thromboxane level anomalous concentration in the body of any of several compounds, originally derived from prostaglandin precursors in platelets, that stimulate aggregation of platelets and constriction of blood vessels
absent estrous cycle failure of female animals to enter or progress through the estrous cycle
abnormal type iv hypersensitivity reaction anomaly in an antigen-elicited cellular immune reaction that results in tissue damage, but does not require Ab participation; the response is seen at the area of contact
abnormal neuron number anomaly in the number of the cells of the nervous system that receive, conduct, and transmit impulses
absent magnocellular neurosecretory cells absence of the cells residing mainly in the hypothalamic supraoptic and paraventricular nuclei and in a number of smaller accessory cell groups between these two nuclei, and secrete the hormones oxytocin and vasopressin
increased lumbar vertebrae number increased number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae
abnormal brown adipose tissue amount anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes
abnormal conotruncal ridge morphology any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum
abnormal brain white matter morphology any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites
increased mammary gland ductal carcinoma incidence
abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton.
abnormal adaptive immunity anomaly in the function of the response of antigen-specific lymphocytes to antigen, including the development of immunological memory
aortic valve atresia A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.
abnormal cochlear endolymph ionic homeostasis anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content
abnormal spleen secondary b follicle morphology any structural anomaly of the nodules of antigen-activated, differentiating B cells, follicular dendritic cells, antigen-presenting T cells and macrophages in the spleen white pulp
dilated endolymphatic duct stretched or widened aperture of the luminal space of the endolymphatic duct
increased liver tumor incidence greater than the expected number of neoplasms in the liver, usually in the form of a distinct mass, in a specific population in a given time period
uterine hemorrhage presence of bleeding in the uterus; often in response to failed pregnancy
absent cerebellum vermis missing narrow middle zone between the two hemispheres of the cerebellum
abnormal female genitalia morphology any structural anomaly of the feminine organs of reproduction or generation, external or internal
decreased number of pulmonary neuroendocrine bodies reduction in the number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the airway lumen and are thought to function as oxygen sensors
abnormal epicardium morphology any structural anomaly of the visceral layer of the pericardium that surrounds and attaches to all the surfaces of the heart
abnormal adrenergic neuron morphology any structural anomaly of the neurons which secrete norepinephrine as a neurotransmitter; adrenergic neurons are mostly sympathetic postganglionic nerves plus some within specific brainstem foci
short malleus manubrium reduced length of the handle of the malleus
abnormal penis morphology any structural anomaly of the organ of copulation and urination in the male
abnormal hair cycle telogen phase anomaly in the resting or quiescent phase of the hair growth cycle which follows cessation of proliferation (catagen) and precedes hair loss
heart vascular congestion obstruction of the normal flux of blood within the blood vessel network of the heart
abnormal sperm capacitation anomaly in the change undergone by spermatozoa in the female genital tract that enables them to penetrate and fertilize an egg
absent salivary gland missing any of the saliva-secreting glands of the oral cavity
gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
decreased pancreas weight reduction in the average weight of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream
abnormal prostate gland weight anomaly in the average weight of the gland in males that secretes part of the seminiferous fluid
abnormal partial thromboplastin time Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
phenotypic reversion wild-type phenotype restored from a previously characterized mutant phenotype
enlarged tectum increased size of the rostral part of the midbrain roof
lacrimal gland inflammation
absent petrosal ganglion absence of the lower group of sensory neuron cell bodies associated with the glossopharyngeal nerve
abnormal circulating prothrombin level anomaly in the blood level of an inactive plasma serine protease precursor produced in the liver in the presence of vitamin K which is proteolytically cleaved into active thrombin by the action of various components (as thromboplastin) of the coagulation cascade
visceromegaly Abnormal increased size of the viscera of the abdomen.
microcytic anemia OMIM mapping confirmed by DO. [SN].
increased left ventricle developed pressure increase in the difference between left ventricular systolic and diastolic pressures
absent transitional stage b cells absence of immature B cells of an intermediate stage between the pre-B cell stage and the mature naive stage; transitional B cells express surface immunoglobulin, and are subject to the process of B cell selection
abnormal scala media morphology any structural anomaly of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing)
defective assembly of class i molecules impaired production of major histocompatibility complex class I molecules
increased sacral vertebrae number increase of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae
abnormal lymphocyte cell number deviation from the normal number of the cells involved in adaptive immune reactions of the body in most inflammatory and autoimmune diseases, including B cells, T cells and natural killer cells
abnormal basicranium morphology any structural anomaly of the sloping floor of the cranial cavity that is comprised of parts of the ethmoidal, occipital and sphenoid bones
abnormal pancreas regeneration deviation from the normal ability of the pancreas to regenerate healthy tissue following injury
enlarged liver sinusoidal spaces larger than normal sized blood-filled cavities in the liver
increased circulating transferrin level elevated concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow
abnormal conjunctiva goblet cell morphology any structural anomaly of a goblet cell that is part of the epithelium of the conjunctiva, and is the source of tear mucins which are secreted from it
abnormal muscle cell glucose uptake anomaly in the ability of muscle cells to take in glucose
small gallbladder reduced size of the gall bladder, the organ that serves as a storage reservoir for bile
altered susceptibility to parasitic infection a change in the likelihood that an organism will develop ill effects from a parasitic infection or from components of or toxins produced by a parasite
bowed humerus A bending or abnormal curvature of the humerus.
absent metanephric mesenchyme absence of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing metanephros; normally, interactions between the ureteric bud and the metanephric mesenchyme lead to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue
abnormal common myeloid progenitor cell morphology any structrual anomaly of the hematopoietic stem cells that are capable of forming any of the myeloid lineage cells (erythrocytes, granulocytes, thrombocytes, monocytes, and mast cells) but not cells of the lymphoid lineage
spermatic granuloma a granulomatous nodular lesion that appears in the region of epididymis and can be large enough to totally occlude the epididymal lumen; sperm granulomas are rounded or irregular in shape, and contain dense aggregates of immune cells and degenerating sperm resulting from an autoimmune response against sperm-associated antigens exposed following biochemical or surgical insult (e.g. vasectomy) to the epididymal epithelium
increased platelet cell number
decreased cd8-positive, alpha-beta t cell number reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
brain vacuoles the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states
hemothorax The presence of blood in the pleural space.
enlarged liver Abnormally increased size of the liver.
optic nerve degeneration retrogressive pathologic change of the optic nerve
increased circulating creatine kinase level an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
decreased renal glomerular filtration rate less than the normal volume of water filtered out of the plasma through glomerular capillary walls into the Bowman's capsule per unit time
increased atrioventricular cushion size larger than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal
abnormal crypts of lieberkuhn morphology any structural anomaly of the tubular intestinal glands found in the mucosal membranes
abnormal medulla oblongata morphology any structural anomaly in the most caudal region of the brainstem that lies directly rostral to the spinal cord; includes regions responsible for autonomic functions such as digestion, breathing and control of heart rate
small cochlear ganglion reduced size of the cochlear ganglion or of the sensory neuron cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)
duodenal lesions focal pathological changes characterized by alteration in the size, shape and organization of the cellular components of the duodenum epithelium tissue
enhanced nmda-mediated synaptic currents increase in the measured amplitude, current density or duration of response to stimulation of NMDA receptors
abnormal cementum morphology any strucutral anomaly in the bonelike rigid connective tissue covering the root of a tooth
decreased aggression towards mice when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice
abnormal branching involved in terminal bronchiole morphogenesis anomaly in the process in which the branched structure of the terminal bronchioles are generated and organized
abnormal male reproductive system physiology An abnormal functionality of the male genital system.
decreased oligodendrocyte number reduced number of cells of the central nervous system that form the insulating myelin sheath of axons in the CNS
collapsed reissner membrane the Reissner's membrane, which normally separates the scala media from the scala vestibuli, has collapsed onto the spiral limbus and the tectorial membrane of the organ of Corti
abnormal olfactory bulb layer morphology any structural anomaly of the laminar structure of the forebrain region that coordinates neuronal signaling involved in the perception of smell
ureterovesical junction obstruction a partial or total blockage of the valve-like structure found at the site of entry of the ureter into the urinary bladder
abnormal blood cell physiology aberrant measurable or observable characteristic related to the function of or processes in any of the cells found in the blood
abnormal uterus morphology any structural anomaly of the female muscular organ of gestation in which the developing embryo or fetus is nourished until birth
increased pancreatic islet number increase in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas
broad nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
abnormal sweat gland morphology any structural anomaly of any of the coil glands of the skin that secrete sweat
abnormal paranasal sinus morphology any structural anomaly of the paired air-filled cavities surrounded by the bones of the face that are lined by mucous membranes and are continuous with the nasal cavity
reddish skin
midface hypoplasia Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
small malleus reduced size of the largest of the three auditory ossicles, which resembles a club or hammer
disorganized yolk sac vascular plexus derangement in the pattern of the primary (honeycomb-like) vasculature of the yolk sac prior to remodeling into a mature vascular network
abnormal metanephric ureteric bud development any anomaly in the development of the portion of the ureteric bud tube that contributes to the morphogenesis of the metanephros
impaired social transmission of food preference defect in the ability to recall and prefer foods associated with odors recently smelled on the breath of other mice; an indicator of defects in learning and memory of olfactory cues
abnormal olfactory bulb mitral cell layer morphology
paternal imprinting establishment of heritable alterations in the activity of a gene that depend on whether it passed through the paternal germline, but that are not encoded by DNA itself
decreased circulating magnesium level
delayed hepatic development late onset of the induction and/or differentiation of the liver
right aortic arch Aorta descends on right instead of on the left.
abnormal thyroid follicle morphology any structural anomaly of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones
tail necrosis morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage
bergmeister's papilla a posterior remnant of the fetal hyaloid artery that arises from the center of the optic disc and consists of a small tuft of fibrous tissue
increased susceptibility to atherosclerosis more likely than normal to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries
delayed heart looping late onset of the initiation and/or completion of looping of the primitive heart tube
absent cochlear hair bundle ankle links absence of the long, single-stranded filaments that form a dense web or mesh around the base of cochlear hair bundles just above the region in which the stereocilia begin to taper down
decreased a wave amplitude reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram
abnormal platelet physiology
abnormal nk t cell number deviation from the normal number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
abnormal microglial cell activation any anomaly in change in morphology and behavior of a microglial cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, during the maturation to the fully active phagocytic form
increased susceptibility to type i hypersensitivity reaction greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks
decreased skeletal muscle fiber density decrease in the number of skeletal muscle fibers in a given cross-sectional area of a skeletal muscle
abnormal action potential change in the electric response of a nerve or other excitable tissue to its stimulation
decreased circulating gastrin level reduced concentration in the blood of polypeptide hormones secreted by the pyloric-antral mucous lining of the stomach that induces the secretion of gastric juice by the parietal cells of the gastric glands; they also occur in the central nervous system where they are presumed to be neurotransmitters
abnormal dorsoventral coat patterning irregular or unusual pigmentation pattern of the dorsal-to-ventral axis compared to control animals
increased kidney apoptosis increase in the number of cells of the kidney undergoing programmed cell death
abnormal third ventricle morphology any structural anomaly of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina
impaired behavioral response to morphine decreased sensitivity to morphine resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response
aberrant origin of the right subclavian artery the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta
abnormal amniotic fluid composition any alteration in the expected chemical makeup of the watery liquid within the amnion that surrounds and cushions a growing fetus; normally, early in gestation, amniotic fluid is similar to maternal plasma, mainly water with electrolytes, and later in gestation, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid
decreased lymph node number fewer than the normal number of lymph nodes
abnormal trabecular bone thickness anomaly in the width of bone that has a lattice-like or spongy structure
decreased circulating ketone body level less than the normal amount of acetoacetate, 3-hydroxybutyrate (beta-hydroxybutyrate) and/or acteone in the blood, which are produced by fatty acid and carbohydrate metabolism and seen in conditions such as starvation and diabetes mellitus
increased colonic adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the colon, occurring in a specific population in a given time period
kinked sperm flagellum a sharp bend or zigzag in the sperm tail
abnormal schwann cell physiology any functional anomaly of the cells which form the insulating myelin sheaths of peripheral axons
abnormal interleukin-23 secretion anomaly in the production or release of a heterodimeric cytokine that plays a role in innate and adaptive immune responses; it is produced by dendritic cells, macrophages and a variety of other immune cells
decreased behavioral withdrawal response decrease in the intensity or duration of behaviors displayed after discontinuation of an addictive substance
absent optic placodes absence of the paired thickenings of surface ectoderm that normally become invaginated to form the embryonic lens vesicles
pulmonary valve stenosis
failure of blastocyst to hatch from the zona pellucida the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation, fails to occur
abnormal claudius cell morphology any structural anomaly in the columnar cells located on the floor of the ductus cochlearis external to the spiral organ (also known as the organ of Corti)
abnormal respiratory quotient anomaly in the ratio of the volume of carbon dioxide released to oxygen consumed by a body tissue or an organism compared to controls
abnormal aortic valve anulus morphology any structural anomaly of the fibrous ring of the aortic valve that attaches the cusps of aortic valve to the wall of left ventricle, and which consists of portions of the fibrous scallops of the posterior, right anterior and left anterior cusps
increased otic epithelium apoptosis
abnormal cd4-positive, alpha beta t cell morphology any structural anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
proportional dwarf abnormally undersized with both limbs and trunk symmetrically shorter; usually due to chemical, endocrine, nutritional or nonosseous influences
intervertebral disk hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the cartilaginous and gelatinous structure found between vertebrae
kidney cortex atrophy
abnormal circulating sodium level any anomaly in the concentration in the blood of sodium, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume
increased stomach ph change in the function of the secretory and buffer systems of the stomach that control the relative acidity or alkalinity, such that the acidity is decreased, as indicated by the decreased concentration of hydrogen ion
lymph node hypoplasia Underdevelopment of the lymph nodes.
decreased triiodothyronine level reduced amount of a thyroid hormone that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
abnormal circulating magnesium level any anomaly in the blood concentration of magnesium
abnormal neuronal stem cell self-renewal any anomaly in the process by which stem cells divide and proliferate to make more stem cells, perpetuating the stem cell pool; self-renewal is division with maintenance of the undifferentiated state
abnormal circulating transferrin level deviation from the normal concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow
abnormal nucleus accumbens morphology any structural anomaly of the group of neurons located at the head of the caudate nucleus and anterior to the putamen; these neurons normally are involved in sensations of pleasure and reactions to addictive substances
decreased fatty acid level reduction in the concentration of aliphatic monocarboxylic acids derived from or contained in esterified form in an animal or vegetable fat, oil or wax; natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated
absent hyoid bone greater horns absence of the larger and more lateral of the paired processes on either side of the hyoid bone
long nails increased length of the nails
abnormal cranial neural crest cell migration any anomaly in the migratory path of the cranial neural crest cells (NCCs), which originate in the anterior part of the developing embryo and reside between the mid-diencephalon and the forming hindbrain; cranial NCCs migrate dorsolaterally to form the craniofacial mesenchyme that differentiates into various craniofacial cartilages and bones, cranial neurons, glia, and connective tissues of the face; these cells enter the pharyngeal pouches and arches where they give rise to thymic cells, bones of the middle ear and jaw (mandible), and the odontoblasts of the tooth primordial; like their counterparts in the trunk, cranial NCCs contribute to the developing peripheral nervous system, along with the pigmented cell (i.e. melanocyte) lineage
absent z lines missing the cross-striation bisecting the I band of striated muscle myofibrils and serving as the anchoring point of actin filaments at either end of the sarcomere
decreased length of long bones reduced end-to-end length of the several elongated bones of the extremities
increased organ of corti supporting cell number increased number of the highly differentiated epithelial cells with distinctive morphological features which surround the hair cells in the organ of Corti
abnormal laryngeal muscle morphology any structural anomaly of the muscles associated with the larynx
increased glycerol level
increased plant sterol level
decreased dopamine level less than the normal amount of this catecholamine neurotransmitter and neurohormone, derived from tyrosine and the precursor to norepinephrine and epinephrine; functions as a neurotransmitter in the brain and as a hormone to inhibit the release of prolactin from the anterior lobe of the pituitary
abnormal liver copper level anomaly in the amount of copper present in the liver tissue
abnormal myelination Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
abnormal hypaxial muscle morphology any structural anomaly of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue
abnormal appendicular skeleton morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.
aortic valve stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
osseous metaplasia the formation of mature bone elements in the stroma of a neoplasm
abnormal airway responsiveness anomalous response in bronchial provocation tests
abnormal adipose tissue physiology any functional anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue
absent anterior definitive endoderm absence of the mesendoderm which first migrates from the node and which gives rise to the gut
abnormal anterior commissure morphology any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle
decreased abdominal adipose tissue amount reduction in amount of adipose tissue associated with internal organs
decreased circulating factor ix level
lordosis Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
abnormal brainstem morphology
abnormal spleen germinal center morphology any structural anomaly of the area of the spleen secondary B follicle where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs
teratozoospermia A structural anomaly of sperm.
abnormal t cell activation anomaly in the process of producing effector T cells from naive T cells
decreased keratohyalin granule number reduced number of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function
increased circulating triiodothyronine level greater amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
polycystic kidney
absent mandibular coronoid process absence of the thin, flattened, triangular eminence that arises from the upper surface of the mandibular ramus (perpendicular portion)
abnormal oxidative phosphorylation any anomaly in the process of phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain; oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis
decreased circulating chloride level
absent superior cervical ganglion lack of the group of neurons that is the largest of the sympathetic trunk; normally lies at the base of the skull and innervates the head and neck
decreased osteoid thickness reduction in the width of the layer of newly formed organic bone matrix secreted by osteoblasts
abnormal sperm connecting piece morphology any structural anomaly in the segment of the sperm flagellum that attaches to the implantation fossa of the nucleus in the sperm head; from the remnant of the centriole at this point, the axoneme extends throughout the length of the flagellum
abnormal endometrial gland development aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus
kidney corticomedullary cysts
increased bone resorption Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
increased brain sterol level greater level in the brain of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated
abnormal mast cell number an anomaly in the number of the cells that are found in almost all tissues, containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation
abnormal pituicyte morphology any structural anomaly of the distinctive fusiform cells present in the pars nervosa of the posterior pituitary gland which resemble astrocytes/glial cells of the CNS and assist in the storage and release of neurohypophysial hormones
abnormal acute phase protein level deviation from the normal levels of the series of proteins found in the blood shortly after infection and which participate in the early phases of host defense against infection
abnormal grip strength altered ability to grasp and hold objects, often measured as time spent hanging from an object or wire
abnormal subthalamus morphology any structural anomaly of the anterior part of the diencephalon that lies between the thalamus, hypothalamus, and tegmentum of the mesencephalon, including subthalamic nucleus, zona incerta, the fields of Forel, and the nucleus of ansa lenticularis
increased colon adenocarcinoma incidence
enlarged sebaceous gland increased size of the sebum secreting glands of the hair shaft
absent eyelids Absent eyelids.
abnormal extrahepatic bile duct morphology any structural anomaly of the passages external to the liver for the conveyance of bile
hydrometrocolpos Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
decreased skin turgor reduced ability of the skin to resist deformation; influential factors include dehydration and age
myocardial necrosis
increased hepatobiliary system tumor incidence greater than the expected number of tumors originating in the hepatobiliary system in a given population in a given time period
absent mature gamma-delta t cells absence of a mature T cell expressing an gamma-delta T cell receptor complex
abnormal hypoglossal nerve morphology any structural anomaly of the motor nerve which innervates all the intrinsic and all but one of the extrinsic muscles of the tongue
abnormal limb position anomaly in the location of the limbs on the body relative to other body parts or axes
clubfoot OMIM mapping confirmed by DO. [SN].
adenohypophysis peliosis presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the anterior lobe of the pituitary gland
fused synovial joints partial or complete absence of separations containing synovial fluid between bones
hyporesponsive to tactile stimuli reduced reflex action normally induced by touch or pain
abnormal pterygoid muscle morphology any structural anomaly of the muscles descending from the sphenoid bone to the lower jaw including the internal, or medial, pterygoid muscle and external, or lateral, pterygoid muscle; the action of the former is closing the jaws and that of the latter is opening the jaws, protruding the mandible, and moving the mandible from side to side
decreased interleukin-2 secretion reduction in the production or release of a soluble substance elaborated by antigen- or mitogen-stimulated T-cells which induces DNA synthesis in naive lymphocytes
decreased t-helper 17 cell number reduced number of CD4-positive, alpha-beta T cells with the phenotype RORgamma-t-positive that produces IL-17
abnormal thymus physiology any functional anomaly of the primary lymphoid organ that is required for immune system development
abnormal hair cell physiology any functional anomaly of the sensory epithelial cells of the inner ear
decreased amacrine cell number reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina
increased thyroid adenoma incidence greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period
abnormal circulating interleukin-17 level anomaly in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors
anisocytosis Abnormally increased variability in the size of erythrocytes.
ocular hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
decreased prostate gland weight reduction in the average weight of the gland in males that secretes part of the seminiferous fluid
abnormal platelet dense granule morphology any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin
abnormal urine bicarbonate level any change in the amount of bicarbonate in the urine
split cervical atlas the first (topmost, C1) cervical vertebra is divided into two branches by a median cleft
abnormal male preputial gland morphology any structural anomaly of the paired, lobulated, modified sebaceous glands of the corona, the neck of the glans penis, and the inner surface of the prepuce with pheromonal functions in male rodents; male preputial secretions strongly attract females, may accelerate estrus, and have been implicated in intermale aggression; homologous to the clitoral glands (aka female preputial glands) in female rodents; there is no true anatomical equivalent in humans
absent respiratory motile cilia absence of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract
abnormal macrophage morphology any structural anomaly of the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells
increased retroperitoneal fat pad weight greater than average weight of the encapsulated adipose tissue found on the dorsal side of the peritoneum
increased organ/body region tumor incidence greater than the expected number of tumors originating in a specific body region or organ in a given population in a given time period
hemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
broad head a greater ear- to -ear distance resulting in the appearance of a wide face and a flattened snout
delayed bone ossification late onset of the formation of bone
abnormal neuronal stem cell physiology any functional anomaly of an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors
reduced long term potentiation less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells
calcified retina
abnormal retinol metabolism altered ability to metabolize retinol, which plays an essential role in metabolic functioning of the retina, and growth of and differentiation
abnormal skin exfoliation anomaly in the process of detachment and shedding of superficial cells of a skin epithelium
decreased atrioventricular cushion size smaller than normal mounds of embryonic connective tissue that bulge into the fetal atrioventricular canal
alkalosis Depletion of acid or accumulation base in the body fluids.
abnormal cochlear inner hair cell physiology any functional anomaly in processes pertinent to the function of cochlear IHCs which constitute the true sensory cell type sending impulses via the cochlear (auditory) nerve
abnormal ejaculation Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.
muscle spasm an involuntary and often painful muscle contraction or cramps having a number of causes ranging from nutritional deficiency to serious nervous system conditions
enhanced avoidance learning behavior enhanced ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus
hydropic eye lens fibers swollen cortical fibers of the eye lens
abnormal liver zinc level anomaly in the amount of zinc present in the liver tissue
abnormal circulating atrial natriuretic factor level deviation from the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator
increased hematopoietic stem cell proliferation increase in the expansion rate of a hematopoietic stem cell population by cell division
adrenal gland hyperplasia overdevelopment or increased size, usually due to a increased number of cells, of the endocrine glands located above the kidney and responsible for hormone and epinephrine secretion
decreased acute inflammation less than the expected early reaction of the microcirculation, characterized by movement of fluid and leukocytes from the blood into extravascular tissues; initiated by injury, infection, or local immune response
abnormal hearing physiology any functional anomaly in the ability to perceive auditory stimuli
lowered ear position outer ears are situated below the normal location often giving the perception of protruding from the head
abnormal extraembryonic tissue morphology any structural anomaly of the membranes involved with embryonic protection and nutrition
absent limbs absence of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species
abnormal cd4-positive, alpha-beta t cell physiology any functional anomaly of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production
kidney atrophy
abnormal cell morphology any structural anomaly of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms
abnormal exoccipital bone morphology any structural anomaly of the bone or region on the lateral sides of the great foremen of the skull, which often forms a part of the occipital in the adult, but is usually distinct in the young
decreased circulating gonadotropin level less than the normal blood concentration of the peptide hormones that stimulate gonadal functions such as gametogenesis and sex steroid hormone production in the ovary and the testis
absent epiglottis missing the most superior of the laryngeal cartilages, which is normally found at the root of the tongue and folds back over the entrance to the larynx during swallowing, preventing inhalation of food or drink
short metestrus decrease in the length of the metestrous phase of the estrous cycle in female animals
abnormal aortic weight anomaly in the average weight of the aorta
partial embryonic lethality before implantation the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and implantation (Mus: E0 to less than E4.5)
abnormal brown adipose tissue thermogenesis any anomaly in the process of heat production in brown adipocytes
fused first pharyngeal arch the first arch fails to fully divide along the midline
increased aggression towards mice when compared to controls, subjects exhibit greater than the normal level of domineering, assaultive posture and/or hostile physical action toward other mice
increased spongiotrophoblast size greater size of the middle layer of the placenta between the outermost giant cells and the innermost labyrinth layer; it has a structural role and also produces several layer-specific secreted factors
abnormal eyelid aperture any anomaly in the normal distance from one eyelid to the other, or closure of the eyes
abnormal olfactory epithelium physiology any functional anomaly in the epithelial cells that line the interior of the nose
aortic arch hypoplasia underdevelopment or reduced size of the aortic arch, usually due to reduced cell number
enlarged heart right atrium increased size of the right upper chamber of the heart
optic nerve coloboma congenital defect of the optic nerve in which some part of the structure is absent
pituitary intermediate lobe hypoplasia underdevelopment or reduced size, usually due to a reduced cell number, of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
abnormal kidney cell proliferation anomaly in the ability of any kidney cell population to undergo expansion by cell division
abnormal nasal pit morphology any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal processes
abnormal minor salivary gland morphology any structural anomaly of the smaller, largely mucus-secreting, exocrine glands of the oral cavity, consisting of the labial, buccal, molar, lingual, and palatine glands
increased catalase activity greater ability to catalyze the reaction: 2 hydrogen peroxide = O2 + 2 H2O
increased susceptibility to experimental autoimmune uveoretinitis greater likelihood that an organism will develop disease symptoms similar to human sight-threatening inflammatory eye diseases upon induction by peripheral immunization with one of several uveitogenic retinal proteins (or with peptides derived from them), or by the adoptive transfer of lymphocytes specific to these antigens
abnormal artery morphology any structural anomaly of the blood vessels that carry blood away from the heart
abnormal extracellular matrix morphology any structural anomaly of the structure lying external to one or more cells, which provides structural support for cells or tissues; in mammals, the extracellular matrix is completely external to the cell
decreased creatine kinase level decreased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
abnormal olfactory bulb glomerular layer morphology
abnormal transforming growth factor beta level abnormal concentration of a paracrine growth factor that has a potential role in embryonic development, cellular differentiation, hormone secretion, and immune function
abnormal organ of corti supporting cell differentiation atypical production of or inability to produce the highly differentiated epithelial cells with distinctive morphological features that surround the hair cells in the organ of Corti
early vaginal opening the opening of the genital canal in a female occurring at an earlier than expected age
decreased adrenal gland weight reduced average weight of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
hemoglobinemia the presence of free hemoglobin in the blood plasma, an indication of significant intravascular hemolysis
failure of heart looping failure of the primitive heart tube to loop asymmetrically during early development
thin vestibular hair cell stereocilia reduced thickness of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern
abnormal cerebellar lobule formation anomaly in the formation of the lobes of the cerebellum
abnormal social investigation altered behavior of animals to approach and examine other animals
abnormal renal sodium reabsorbtion any anomaly in the process by which sodium ions are transported out of the renal tubules back into the bloodstream
impaired neural crest cell differentiation abnormal or arrest of differentiation of the transient and highly migratory group of cells that delaminate in early embryonic development from the dorsal neural tube and give rise to a variety of differentiated cell types
absent visceral yolk sac absence of the extraembryonic tissue membrane, formed from the visceral endoderm and the extraembryonic mesoderm, which is located ventral to the embryonic disc and is connected to the presumptive midgut of the embryo
misaligned sternebrae abnormal alignment of the sternebrae along the ventral midline
white spotting the appearance of patches of white fur
increased susceptibility to autoimmune diabetes greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas
respiratory distress
cardiac fibrosis formation of fibrous tissue within the heart often resulting from inflammation or injury
anterior subcapsular cataracts a lens opacity localized beneath the anterior lens capsule
abnormal esophageal squamous epithelium morphology any structural anomaly of the scaly epithelial layer of the esophagus
increased haptoglobin level increased amount of any of haptoglobin, a protein that binds free hemoglobin (Hb) released from erythrocytes with high affinity and thereby inhibits its oxidative activity
abnormal branching involved in bronchus morphogenesis anomaly in the process in which the branched structure of the bronchus is generated and organized
abnormal urinary bladder detrusor smooth muscle morphology any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine
abnormal alveolar pore morphology any structural anomaly of the openings in the alveolar septum that permit air flow between adjacent alveoli
short metatarsal bones reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges
anterior polar cataracts a lens opacity, usually disk-shaped, that is limited to an area in the anterior pole of the lens capsular region
abnormal liver bud morphology any structural anomaly of the liver primordium formed as hepatoblasts delaminate from the anterior portion of the hepatic diverticulum and invade the adjacent septum transversum mesenchyme
calcified aortic valve
abnormal muscle development any anomaly in the differentiation of muscle tissue
abnormal turbinate morphology any structural anomaly of the small curved bones that extends horizontally along the lateral wall of the nasal passage
abnormal lymph node secondary follicle morphology any structural anomaly of a lymph node primary follicle that has undergone antigenic challenge and is characterized by a ring of concentrically packed B lymphocytes surrounding a germinal center, which contains proliferating B cells, and a mantle area that contains nondividing B cells and some helper T cells with macrophages and follicular dendritic cells interspersed
abnormal endolymph any alteration in the normal production (volume) or ionic homeostasis of the fluid contained within the membranous labyrinth of the inner ear; unlike perilymph, endolymph resembles intracellular fluid in composition and has a high concentration of potassium ion and a low concentration of sodium ion
abnormal circulating interleukin-1 level anomaly in the amount in the blood of a soluble factor produced by monocytes, macrophages and other cells, which activates T-lymphocytes and potentiates their response to mitogens or antigens
abnormal chemical nociception abnormal capability to sense pain elicited by chemical stimulation
increased hemangioblast number increased number of the pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands
decreased urine prostaglandin level a reduced amount of any prostaglandin in the urine compared to the normal state
abnormal behavioral response to addictive substance any anomaly in the behavioral response induced by an addictive substance, such as induced hyperactivity or stereotypic behavior
abnormal uterine cervix morphology any structural anomaly of the lower opening of the uterus to the vagina
absent pharyngeal arch arteries absence of the vessels formed within the six (five in mammals) pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels
decreased tear production decreased production of the amount of fluid produced in the eye
abnormal inhibitory postsynaptic currents defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization
abnormal cell mass anomaly in the total physical bulk or volume of a cell compared to the normal state
decreased axial mesoderm size reduced size or deficiency of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord
abnormal cd4-positive, cd25-positive, alpha-beta regulatory t cell morphology A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.
decreased spleen white pulp amount reduction in the quantity of the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies
abnormal kidney cortex artery morphology any structural anomaly of the network of tubes that supplies blood to the renal cortex
abnormal vertebral arch morphology any structural anomaly of the dorsal bony and/or cartilaginous part of a vertebra, consisting of a pair of pedicles, a pair of laminae, and seven processes (four articular processes, two transverse processes, and one spinous process)
absent cerebellum vermis lobule ix missing triangular elevation on the vermis of the cerebellum
enhanced ampa-mediated synaptic currents increase in the measured amplitude, current density or duration of response to stimulation of AMPA receptors
abnormal acromion morphology any structural anomaly of the lateral end of the spine of the scapula which projects as a broad flattened process and articulates with the clavicle, and forms the point of the shoulder
enlarged placenta increased size of the size or shape of the organ of metabolic interchange between fetus and mother
increased glycosylated hemoglobin level greater than normal blood concentration of a modified form of hemoglobin with an attached saccharide molecule
decreased hepatoblast number reduced number of the bi-potent cells that retain the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into hepatocytes and cholangiocytes
temporal bone hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the large, irregular bone located at the base and side of the skull
abnormal lymph node primary follicle morphology any structural anomaly of an unstimulated network of follicular dendritic cells and small resting B cells in the lymph node cortex
abnormal vitreous body morphology any structural anomaly of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina
increased oligodendrocyte progenitor number greater number of cells that differentiate into a type of glial cell in the central nervous system
absent facial nuclei missing nucleus of neurons in the hindbrain; receives fibers from the facial muscles, stapedus muscle and stylohyoid muscle
impaired behavioral response to anesthetic decrease or delay in the behavioral changes that follow exposure to a given amount of an anesthetizing agent
decreased mitochondrial dna content less than expected amount of DNA contained within the mirochondria of a eukaryotic cell
absent trigeminal nerve lack of the chief sensory nerve of the face and motor nerve of the muscles of mastication; has three major divisions: ophthalmic, maxillary and mandibular
enlarged lymph nodes
abnormal uterine angiogenesis any anomaly in vascular permeability and blood vessel development that normally occurs in the uterus to support embryonic growth during pregnancy
enlarged thymus increased size of thymus
decreased chondrocyte number fewer than normal numbers of polymorphic cells that form cartilage
abnormal cutaneous microfibril morphology any structural anomaly of the fiber-like strand of fibrillin that forms the scaffold of the cutaneous elastic fibers found in the extracellular matrix of the skin
abnormal double-strand dna break repair any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix
reduced ampa-mediated synaptic currents reduction in the measured amplitude, current density or duration of response to stimulation of AMPA receptors
absent visceral yolk sac blood islands absence of the masses of developing blood cells attached to endothelium in the yolk sac
decreased sterol level reduction in the level of any of a group of predominantly unsaturated solid alcohols of the steroid group, usually with a hydroxyl group (OH) attached to the third carbon atom, and are present in the fatty tissues of plants and animals; sterols may be found either as free sterols, acylated, alkylated, sulfated, or linked to a glycoside moiety which can be itself acylated
abnormal line of schwalbe morphology any structural anomaly of the thickened peripheral margin of the vitreous membrane of the cornea
abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.
abnormal long bone diaphysis morphology any structural anomaly of the main or mid section (shaft) of a long bone
abnormal proerythroblast morphology any structural anomaly of the immature, nucleated erythrocyte precursors that give rise to reticulocytes and are derived from erythroid progenitor cells
increased hippocampus pyramidal cell number increased number of the multipolar projection neurons in the hippocampus pyramidal cell layer
increased urinary bladder transitional cell carcinoma incidence greater than the expected number of a malignant neoplasm of the transitional epithelial layer of the urinary bladder, occurring in a specific population in a given time period
absent inner cell mass proliferation
absent amacrine cells absence of the amacrine cells, which constitute one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer
abnormal circulating corticosterone level anomaly in the amount of the adrenocortical steroid in the blood that induces glycogen deposition and regulates sodium conservation and potassium secretion
unresponsive to tactile stimuli absence of reflex action normally induced by touch or pain
abnormal liver regeneration deviation from the normal ability of liver to regenerate healthy tissue following partial hepatectomy
embryonic lethality prior to organogenesis death prior to the completion of embryo turning (Mus: E9-9.5)
abnormal presphenoid bone morphology any structural anomaly of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult
anosmia An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
decreased circulating unsaturated transferrin level reduction in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test
increased t cell derived lymphoma incidence higher than normal incidence of a group of heterogeneous lymphoid tumors representing malignant transformations of T-lymphocytes
abnormal corneal stroma development anomalous differentiation of the lamellated connective tissue layer of the cornea
abnormal non-rapid eye movement sleep pattern any anomaly in the frequency or duration of the sleep stages characterized by distinct EEG patterns, decreased metabolic activity, slowed breathing and heart rate, and the absence of rapid eye movement and dreaming
pancytopenia
increased placental labyrinth size increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
pituitary gland hypertrophy increase in the bulk size of the pituitary gland due to cell enlargement
testicular atrophy Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
iris stroma hypoplasia underdevelopment or reduced size of the iris stroma, usually due to a reduced number of cells
premature suture closure
abnormal aorticopulmonary septum morphology any structural anomaly of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta
abnormal nerve fiber response threshold any change in the value at which a stimulus first elicits a recordable response recorded in a single or several nerve fiber(s)
abnormal urine amino acid level any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group
poor grooming below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring)
calcified intervertebral disk process in which the cartilaginous and gelatinous structure found between vertebrae becomes hardened due to deposits of calcium salts
abnormal spleen b cell follicle morphology any structural anomaly of the area of the white pulp where the affinity maturation of B cells and the generation of memory B cells and plasma cells occur
kidney failure A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
abnormal brain meninges morphology any structural anomaly in any of the membranes covering the brain, including the dura mater (external), arachnoid (middle), and pia mater (internal)
abnormal femoral fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the femur
abnormal glucokinase activity anomaly in the ability to catalyze the reaction: ATP + D-glucose = ADP + D-glucose-6-phosphate
increased tumor latency later onset of tumor occurrence than expected
absent brain internal capsule absence of the area of white matter in the brain that lies between the lenticular and caudate nuclei, and contains a group of myelinated ascending and descending axonal fiber tracts that connects the cerebral cortex to the brain stem and spinal cord
increased time of peak ischemic contracture increased duration of time from normal necessary to achieve full irreversible contraction of the cardiac muscle in response to myocardial infarction
dual inferior vena cava presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein
abnormal tooth mineralization abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum
abnormal cardiovascular system morphology any structural anomaly of the heart or vascular tissue
abnormal aorta elastic tissue morphology any structural anomaly of the dense connective tissue which contains predominantly elastic fibers and is found in the tunica media of the aorta wall
intestinal hypoperistalsis
abnormal midbrain roof plate morphology any structural anomaly of the mesencephalic roof plate, including the caudal and rostral part of the midbrain roof
abnormal lipid metabolism any anomaly in the chemical reactions and pathways involving a lipid, including metabolic, catabolic and biosynthetic processes
decreased circulating alanine transaminase level decreased concentration in the blood of the enzyme which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction
abnormal mitotic spindle morphology any structural anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis
increased response of heart to induced stress increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
abnormal kidney venous blood vessel morphology any structural anomaly of the network of tubes that return blood from the renal tissues to the systemic circulation
small esophagus reduced size of the part of the digestive canal through which food passes from the pharynx to the stomach
abnormal cerebellum vermis lobule vi morphology
abnormal decidualization atypical cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation; this process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta; expected changes include the eosinophilic proliferation around arterioles after ovulation or progesterone action on endometrium which increases glandular epithelial secretion, stimulates glycogen accumulation in stromal cell cytoplasm, and promotes stromal vascularity (spiral arterioles) and edema
abnormal cerebellum vermis lobule viii morphology
increased urine magnesium level
abnormal muller cell morphology any structural anomaly of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements
absent leydig cells lack of the interstitial cells of the seminiferous tubules that secrete testosterone
abnormal stapes footplate morphology any structural anomaly in the flat portion of the stapes that fits in the oval window
absent b-1 b cells
abnormal styloid process morphology any structural anomaly in the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone where it joins the tympanic portion; it gives attachment to the styloglossus, stylohyoid, and stylopharyngeus muscles and the stylohyoid and stylomandibular ligaments
spiral ligament degeneration degeneration or loss of the thickened periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches
integument phenotype the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands
abnormal dendrite morphology any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body
abnormal peritubular myoid cell morphology any structural anomaly of the flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule
abnormal cerebellum external granule cell layer morphology any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells
absent cochlear microphonics absence or loss of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound
lymph node hyperplasia Enlargment (swelling) of a lymph node.
increased b-1 b cell number
abnormal memory t cell physiology any functional anomaly of the set of long-lived T cells differentiated from T cells activated by a specific antigen encountered during a past immune response
absent rectum absence or loss of the terminal portion of the intestinal tube adjacent to the anus
interdigital webbing fold of skin, or web, between the toes that is not normally present
abnormal bilaminar embryonic disc any structural anomaly of the flattened, almost circular bilaminar plate of cells formed when the inner cell mass (aka embryoblast) forms two epithelial layers, each of a distinct lineage, separated by an extracellular basement membrane: the external (dorsal) layer is called the epiblast and the internal (ventral) layer is called the hypoblast (aka primitive endoderm); together, they compose the bilaminar embryonic disc
hyperdipsia intense thirst that is relatively temporary
hypertension
abnormal accessory olfactory bulb morphology any structural anomaly of the forebrain region that coordinates sensory signaling arising from the vomeronasal organ; it is located on the dorsal-posterior portion of the main olfactory bulb, and the axons that leave the accessory olfactory bulb project to targets in the amygdala and hypothalamus
decreased liver copper level a reduced amount of copper in the liver tissue compared to controls
absent vestibular ganglion absence of the group of bipolar sensory nerve cell bodies concerned with equilibration that form a swelling on the vestibular part of the eighth cranial nerve in the fundus of the internal acoustic meatus
absent endolymphatic sac absence of the dilated blind extremity of the endolymphatic duct, which lies external to the dura on the posterior aspect of the petrous part of the temporal bone
abnormal seizure response to electrical stimulation anomaly in the seizure activity response that is brought about by high or low frequency electrical stimulation
abnormal sesamoid bone of gastrocnemius morphology any structural anomaly of the small sesamoid bones situated behind the condyles of the femur
increased cardiovascular system tumor incidence greater than the expected number of tumors originating in the cardiovascular system in a given population in a given time period
abnormal mitochondrial chromosome morphology any structrual anomaly of the chromosome found in the mitochondrion of a eukaryotic cell
abnormal molar crown morphology any structural anomaly of the part of a molar that is covered by enamel
abnormal adipose tissue development anomaly in the process of the formation of the connective tissue composed of fat cells enmeshed in areolar tissue
abnormal circulating unsaturated transferrin level any anomaly in the concentration of transferrin that is not saturated (bound) with iron; this represents the reserve capacity of transferrin and is often measured by the Unsaturated Iron Binding Capacity (UIBC) test
polyhydramnios A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
abnormal blastocoele morphology any structural anomaly the fluid-filled cavity of the blastocyst of the preimplantation embryo of mammals
abnormal oligodendrocyte physiology any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS
absent hair follicle melanin granules absence of the pigment polymers located in the hair follicles
increased thyroid-stimulating hormone level greater amount of the hormone that stimulates the growth and function of the thyroid gland
short diestrus decrease in the length of the diestrous phase of the estrous cycle in female animals
abnormal urination pattern increased or decreased frequency of urination episodes, or extended periods of anuria
head spot the appearance of a round area of white fur on the head
decreased skeletal muscle weight less than average skeletal muscle weight
barrel chest A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
abnormal extensor digitorum longus morphology any structural anomaly of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle
rib fusion Complete or partial merging of adjacent ribs.
decreased long bone epiphyseal plate size reduced size of the cartilaginous center of ossification located at one or both ends of bones between the epiphysis (end) and the diaphysis (shaft) of long bones; longitudinal growth of the bone occurs at the plate during development in children and juveniles
abnormal reticulocyte morphology any structural anomaly of immature erythrocytes characterized by a meshlike pattern of threads and particles at the former site of the nucleus
abnormal circulating pituitary hormone level aberration in the blood concentration of any of the hormones secreted by the pituitary
wide ribs Increased width of ribs.
abnormal liver physiology
increased prolactin level greater than expected concentration of the hormone that stimulates milk secretion
perimembraneous ventricular septal defect
brain vascular congestion obstruction of the normal flux of blood within the blood vessel network of the brain
abnormal pancreas morphology
increased hepatoma incidence greater than the expected number of malignant tumors composed of neoplastic liver cells in a specific population in a given time period
decreased corticospinal tract size reduced size of the corticospinal fibers that arise from the pyramidal cells within the cerebral cortex layer V of the precentral motor area, the premotor area and the postcentral gyrus, then descend into and through the medulla to form the lateral corticospinal tract and the anterior corticospinal tract
abnormal vertebrae development anomalous formation of the vertebrae from the sclerotome
decreased bone mineral density Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
abnormal nasal bone morphology any structural anomaly of either of two rectangular bone plates forming the bridge of the nose
abnormal ureter morphology any structural anomaly of the tube that conducts the urine from the renal pelvis to the bladder
abnormal amygdala morphology any structural anomaly of the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe; this area is involved in aggression and fear responses
decreased body mass index less than normal average of a measure of weight for height
renal ischemia inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of a blood vessel; a significant cause of renal dysfunction and cortical and medullary necrosis
decreased pulmonary vascular resistance less than the normal force opposing blood flow in the lung blood vessels
decreased otic epithelium proliferation reduction in the expansion rate of the otic epithelial cell population by cell division
thick myocardium increased thickness of the heart muscle layer
abnormal hippocampus development improper differentiation of the hippocampus
abnormal ph regulation anomaly in the function of the buffer systems of the body in combination with the respiratory and renal systems that control the relative acidity or alkalinity of the body, as measured by the concentration of hydrogen ion
abnormal t follicular helper cell morphology any structural anomaly of a CD4-positive, CXCR5-positive, CCR7-negative alpha-beta T cell located in follicles of secondary lymph nodes that expresses high levels of BCL-6, ICOS and PD1 and stimulate follicular B cells to undergo class-switching and antibody production
absent glossopharyngeal nerve absence of the sensory and autonomic axons to the parotid gland, carotid body, posterior third of the tongue; the branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion
decreased t cell proliferation reduction in the ability of a naive T cell population to undergo rapid expansion by cell division in response to stimuli
small otic capsule reduced size of the cartilage or bony capsule surrounding the inner ear mechanism
phototoxicity condition caused by overexposure to UV light or from the combination of exposure to specific wavelengths and a phototoxic substance
small lymph nodes Underdevelopment of the lymph nodes.
decreased keratohyalin granule size reduced size of the irregularly shaped basophilic granules in the cells of the stratum granulosum of the epidermis that may play a role in keratinization and barrier function
absent p wave absence of the P wave which represents atrial depolarization and corresponds to electrical impulses rather than mechanical atria contractions
increased spleen germinal center size greater size of spleen secondary B follicles where rapid B-cell proliferation, somatic hypermutation, and selection for antigen binding occurs
increased urine glucose level
arrested t cell differentiation failure of T cell formation to proceed past a defined stage
abnormal cilium morphology any structural anomaly of the specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface; each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole
ischium hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis
other aberrant phenotype anomaly or dysmorphology not attributable to any other category
abnormal brain iron level any anomaly in the amount of iron present in the brain tissue
abnormal stellate ganglion morphology any structural anomaly of the group of neurons formed by the fusion of the inferior cervical and first thoracic ganglia
abnormal uterus size anomaly in the size of the female organ of gestation
absent retinal inner plexiform layer absence of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites
abnormal retinal neuronal layer morphology any structural anomaly of any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments
absent hypodermis muscle layer absence of the skeletal muscle layer in the superficial fascia
abnormal subcommissural organ morphology any structural anomaly of the circumventricular organ derived from ependymal cells that is located at the junction of the third ventricle and the cerebral aqueduct and which secretes somatostatin
abnormal thrombopoiesis abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation
absent mullerian ducts absence of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina
increased circulating interleukin-17 level increase in the amount in the blood of a proinflammatory cytokine produced primarily by T-cells or their precursors
caudal vertebral transformation homeotic transformation of any caudal vertebrae to adopt the fate of another vertebrae
abnormal olfaction anomaly in the ability to smell
decreased urine major urinary protein level reduced amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine
abnormal sebaceous gland morphology any structural anomaly of the holocrine glands that secrete sebum into the hair follicles or in hairless areas into ducts
altered susceptibility to autoimmune disorder a change in the likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides
partial lethality at weaning the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms at weaning age
abnormal pancreatic endocrine progenitor cell physiology any functional anomaly of a multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells
abnormal vertebrae morphology any structural anomaly of the bony segments of the spinal column
abnormal urine protein level anomaly in the amount of protein in the urine
ocular rupture tearing of the tissues of the eye
urethritis
decreased integument system tumor incidence less than the expected number of tumors originating in the integument system in a given population in a given time period
increased ige level An abnormally increased level of immunoglobulin E in blood.
decreased intestinal cholesterol absorption reduced ability of the body to take up cholesterol into the blood by absorption from the small intestine
abnormal vestibuloocular reflex An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.
abnormal vascular development aberrant process of vascular formation
abnormal podocyte slit diaphragm morphology any structural anomaly of the thin membrane that covers the podocyte filtration slit which allows small molecules such as water, glucose, and ionic salts to pass through while retaining larger macromolecules in the bloodstream
periodontal ligament hypercellularity increased cell density of the periodontal ligament
increased urine prostaglandin level
thin dermal layer reduced thickness of the dermis
enlarged peyer's patches increased size of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
epidermal cyst a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions
abnormal osteoclast differentiation atypical production of or inability to produce the specialized phagocytic cells associated with the absorption and removal of the mineralized matrix of bone tissue
iris synechia an adhesion (synechia) of the iris to the cornea or lens of the eye that may develop from glaucoma, cataracts, uveitis, or keratitis or as a complication of surgery or trauma to the eye; synechiae may prevent or impede flow of aqueous fluid between the anterior and posterior chambers of the eye, resulting in angle closure glaucoma
abnormal vestibular hair bundle inter-stereocilial links any structural anomaly in the morphologically and biochemically distinct link types that extend between the stereocilia of vestibular hair bundles
decreased vagina weight decrease in the weight of the female reproductive canal located between the uterus and the vulva
amacrine cell degeneration a retrogressive impairment or destruction of one of the three types of interneurons found in the inner nuclear layer of the mature retina; they integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer
increased spleen red pulp amount increase in the quantity of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation
abnormal interleukin-13 secretion anomaly in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
hemolysis
absent brain ventricles absence of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord
enhanced behavioral response to alcohol increased sensitivity to alcohol resulting in a behavioral response, such as induced hyperactivity or stereotypic behavior, or decreased dosage threshold for the appearance of the behavioral response
abnormal distal convoluted tubule morphology any structural anomaly of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex; it is partly responsible for the regulation of potassium, sodium, calcium, and pH through the endocrine system
abnormal circulating aldosterone level anomaly in the blood concentration of the hormone that is secreted by the adrenal cortex and regulates sodium conservation and potassium secretion in the distal renal tubule
esophageal inflammation
abnormal proestrus any anomaly or aberrant timing of the first phase of the estrous cycle which begins when a new batch of eggs reach maturity within ovarian follicles that are ripe and large; external examination of the female usually shows a bloated vulva with an open vagina
abnormal plasma membrane sphingolipid content altered amounts of the phospholipids found especially in, but not limited to, the cell membrane of nerve tissue that yield sphingosine, choline, a fatty acid, and phosphoric acid upon hydrolysis
abnormal triglyceride level any anomaly in the concentration of triglyceride, a glycerol esterified at each of its three hydroxyl groups by a fatty acid; triglyceride is an important molecule for storage of fatty acids in adipose tissue
abnormal ventral ectodermal ridge morphology any structural anomaly of the morphologically distinct group of ectodermal cells that serves as an important signaling center in the mouse tail-bud following completion of gastrulation, and contains progenitor cells that contribute to the ventral midline ectoderm of the tail; ablation of the VER leads to defects in somitogenesis and tail elongation
oviduct hypoplasia
increased bone mineral content elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area
non-obstructive hydrocephaly
abnormal macrophage activation involved in immune response anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
open neural tube failure of completion of the last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline
abnormal mandible morphology any structural anomaly of the lower bony framework of the mouth where the inferior teeth are held
abnormal cell migration any anomaly in the movement of cells from one site to another, often occurring during developmental or chemotactic processes
abnormal ear physiology any functional anomaly of the ear, not due to an anatomical defect
abnormal cd8-positive, alpha-beta t cell differentiation atypical production of or inability to produce the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions
abnormal creatine level anomaly in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
decreased extensor digitorum longus weight reduction in the weight of the penniform muscle of the lateral front part of the leg responsible for extension of the toes and dorsiflexion of the ankle
abnormal pancreatic acinus morphology any structural anomaly of the secretory units of the exocrine pancreas, where fluid containing digestive enzymes is produced; consists of a group of secretory cells surrounding a luminal space that connects to the pancreatic duct
abnormal sebaceous lipid secretion abnormal function of the sebaceous gland resulting in changes to the lipid profile secreted onto the hair and skin
thin hair shaft the average diameter of coat hair is less than the average diameter of hair from normal individuals
abnormal hypodermis muscle layer morphology any structural anomaly of the skeletal muscle layer in the superficial fascia
aorta pulmonary collateral arteries small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus
short photoreceptor outer segment decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin
abnormal kidney capsule morphology any structural anomaly of the tough fibrous layer surrounding the kidney which is covered in a thick layer of perirenal adipose tissue that functions to provide some protection from trauma and damage
increased circulating total protein level
increased mortality induced by ionizing radiation greater sensitivity to doses of ionizing radiation that include ultraviolet light, X-rays, or gamma rays, resulting in death
distended stomach an expansion in the volume of the sac-like structure of the digestive canal between the esophagus and the small intestine, as by stretching or distention
colonic necrosis morphological changes resulting from pathological death of some or all colon tissue; usually due to irreversible damage
increased midbrain size greater than average size of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and coordination of auditory and visual reflexes
abnormal maternal behavior any response from the mother or attending female related to the ability of young to thrive
decreased susceptibility to kidney reperfusion injury a diminished likelihood or extent of damage to the kidney when the blood supply is restored after a period of ischemia
keratoconjunctivitis
increased pulmonary respiratory rate greater than the normal number of breaths per minute
abnormal epidermis stratum spinosum morphology any structural anomaly of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance
abnormal thoracic aorta morphology any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest
anasarca An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.
pancreas fibrosis
abnormal circulating complement protein level deviation from the normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
abnormal head size anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell
vertebral transformation homeotic transformation of a specific vertebrae to adopt the fate of another
increased t-helper 2 cell number greater number of the subset of the type of T-helper cell whose cytokine production promotes defense against extracellular parasites and humoral immune responses typical of allergy
abnormal response to exercise any anomaly in the physiological changes induced by controlled exercise
increased adrenal gland tumor incidence greater than the expected number of neoplams in the adrenal gland occurring in a specific population in a given time period
abnormal circulating hormone level any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects
abnormal pineal gland melatonin secretion anomaly in the production and/or release of a catecholamine hormone by the pineal body that controls behavior influenced by seasonal changes
abnormal retinal outer nuclear layer morphology any structural anomaly of the retinal layer that contains the nuclei and cell bodies of rods and cones
squamous metaplasia of prostate gland a benign non-cancerous transformation of the prostatic glandular epithelium into stratified squamous epithelium
increased susceptibility to induced choroid neovascularization increased rate or amount of new growth of new, abnormal blood vessels that originate in the choroid through a break in the Bruch membrane into the sub-retinal pigment epithelium or subretinal space and may result in visual loss as a result of chemical or mechanical manipulation (e.g. laser-induced trauma)
abnormal chromosome morphology any structural anomaly of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information
absent proximal rib missing part of rib structures near the spine, ribs do not contact vertebrae
abnormal female reproductive system physiology
disorganized retinal outer nuclear layer derangement of the normal pattern of the retinal layer that contains the nuclei and cell bodies of rods and cones
absent hard palate absence of the anterior part of the palate that is supported by and includes the palatal extensions of the maxillary and palatine bones in the adult
fusion of vertebral arches improper union of the dorsal part of adjacent vertebra
absent diencephalon absence or loss of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex
increased energy expenditure increase in the number of calories used per unit time or decrease in weight gain for a given amount of food eaten
increased rectum adenocarcinoma incidence
abnormal peyer's patch germinal center morphology any structural anomaly of the area of the Peyer's patch where B cells proliferate and differentiate into plasma cells
abnormal maxilla morphology any structural anomaly of the upper bony framework of the mouth where the superior teeth are held
abnormal hypothalamus morphology Any structural anomaly of the hypothalamus.
abnormal galactose homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of galactose in the fluids and tissues
abnormal lacrimal gland physiology any functional anomaly of the glands that secrete tears
abnormal kidney outer medulla outer stripe morphology any structural anomaly of the region of the kidney outer medulla that lies just below the cortex; the proximal straight tubules are present in this region
abnormal blastocyst hatching any anomaly of the hatching of the cellular blastocyst from the zona pellucida, the thick solid transparent outer membrane that surrounds the developing ovum and embryo prior to implantation
increased pituitary adenohypophysis tumor incidence greater than the expected number of neoplasms in the anterior part of the pituitary that secretes a variety of hormones, occurring in a specific population in a given time period
increased intestine copper level a greater accumulation of copper in intestinal tissue compared with controls
small ischium reduced size of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis
small molars reduced size of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface
absent retinal rod cells absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane
abnormal limb paddle morphology any structural anomaly of the transient developing limb structure that develops from the limb bud; it is a dorsoventral flattening of the limb bud structure and develops into the foot plate
abnormal aorta endothelium morphology any structural anomaly of the thin layer of flat cells that line the aorta and form a barrier between circulating blood in the lumen and the rest of the vessel wall
abnormal t-helper 1 physiology abnormal function of the type of T-helper cell whose cytokine production favors cellular immune responses and delayed type hypersensitivity
abnormal pituitary intermediate lobe morphology any structural anomaly of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
abnormal vitamin b12 level any anomaly in the concentration of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom
abnormal heart left atrium morphology any structural anomaly of the left upper chamber of the heart
delayed gastrulation late onset of the development and invagination of the embryonic germ layers
binucleate two nuclei present per cell body when one is expected; often due to failed cytokinesis
increased rhombomere 4 size increased size of the fourth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
abnormal sperm axoneme morphology any structural anomaly of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion
cornea ulcer
abnormal temporomandibular joint morphology any structural anomaly of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones
abnormal sertoli cell phagocytosis altered ability of the Sertoli cells to endocytose and degrade the apoptotic spermatogenic cells and residual bodies (shed cytoplasts) during the maturation phase of spermiogenesis; normally, greater than 50 per cent of differentiating spermatogenic cells undergo apoptosis before maturing into spermatozoa, and these cells are selectively and rapidly eliminated through phagocytosis by Sertoli cells
impaired mammary gland growth during pregnancy defect in the extensive and rapid branching of the mammary ducts, expansion of mammary epithelium in the stroma between the ducts with or without abnormalities in nipple maturation in preparation for lactation
absent intervertebral disk absence of the cartilaginous and gelatinous structure found between vertebrae
atrial situs inversus Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.
abnormal grooming behavior defects in the standard of behavior of cleaning and/or keeping outward appearance tidy (self, mate or offspring)
abnormal placenta hemotrichorial membrane morphology any structural anomaly of the three trophoblast cell layers found in rodent placentas between fetal blood vessels and maternal blood sinuses
enlarged pericardium extended fibroserous membrane covering the heart and beginning of the great vessels
abnormal palatine bone morphology any structural anomaly of either of two irregularly L-shaped bones located posterior to the maxilla that in part forms the back of the hard palate, part of the nasal cavity and part of the floor of the orbits
abnormal memory b cell differentiation atypical production of or inability to produce distinctly differentiated long-lived B cells that are readily activated upon reencounter of an antigenic determinant; memory B cells differentiate from antigen-activated B cells which have been selected for expression of higher affinity immunoglobulin
abnormal bile salt homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats
abnormal optic tract morphology any structural anomaly of the paired bands of optic nerve fibers running from the optic chiasma mostly to the lateral geniculate body, with a smaller number of fibers terminating in the superior colliculus and the pretectal region
decreased tumor latency earlier onset of tumor occurrence than expected
abnormal conditioned place preference behavior anomaly in the ability of an animal to learn and remember an association between a putative rewarding internal state produced by a xenobiotic or drug with a neutral, unchanging environment
abnormal osteoblast morphology any structural anomaly of a skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell
increased circulating bicarbonate level elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood
abnormal orientation of inner hair cell stereociliary bundles misorientation or rotation of inner hair cell (IHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium
spleen hypoplasia
decreased epididymis weight reduction in the average weight of the elongated structure connected to the posterior surface of the testis that transports, stores, and matures spermatozoa between testis and vas deferens
abnormal sciatic nerve morphology any structural anomaly of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity
abnormal igd level deviation from the normal levels of immunoglobulin class D level
absent midgut absence of the portion of the embryonic gut between the foregut and the hindgut
cervical vertebral transformation homeotic transformation of any cervical vertebrae to adopt the fate of another vertebrae
absent thyroid follicular cells absence of the thyroxine-producing follicular cells derived from the thyroid diverticulum which evaginates from the endodermal epithelium of the embryonic pharyngeal floor
abnormal pancreatic alpha cell morphology any structural anomaly of the cells of the pancreas that secrete glucagon
absent uterus Aplasia of the uterus.
increased susceptibility to autoimmune disorder greater likelihood that an organism will develop disease characterized by production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides
abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
abnormal fat pad morphology any structural anomaly of the encapsulated adipose tissue
absent vagal neural crest cells absence of the neural crest cells (NCCs) that arise from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7
abnormal circulating triiodothyronine level anomaly in the amount of a thyroid hormone present in the blood that regulates growth and development, controls some metabolic processes and body temperature, and negatively regulates secretion of thyrotropin by the pituitary gland
enlarged adenohypophysis increased size of the anterior part of the pituitary that secretes a variety of hormones
decreased interleukin-5 secretion reduction in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells
abnormal humoral immune response any functional anomaly of the aspect of immunity that is mediated by secreted antibodies produced in the cells of the B lymphocyte lineage (B cell) and the accessory processes that accompany it, including Th2 activation and cytokine production, germinal center formation and isotype switching, affinity maturation and memory cell generation; it also refers to the effector functions of antibody, which include pathogen and toxin neutralization, classical complement activation, and opsonin promotion of phagocytosis and pathogen elimination
absent platelets lack of non-nucleated cells found in the blood and involved in blood coagulation
enlarged cranium increased size of the cranium
pituitary gland peliosis presence of cyst-like blood-filled lakes or cavities (extravasated erythrocytes not contained in capillaries) within the pituitary gland; commonly found in hyperplastic and adenomatous pituitary glands
abnormal macrophage differentiation atypical production of or inability to produce the large mononuclear phagocytes which differentiate from monocytes, are typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells
abnormal exercise endurance improved or impaired performance during controlled physical activity
abnormal embryonic epiblast morphology any structural anomaly of the transient structure derived from the inner cell mass which lies above the hypoblast; the epiblast tissue gives rise to the three primary germ layers (ectoderm, definitive endoderm, and mesoderm) and to the extraembryonic mesoderm of the visceral yolk sac, the allantois, and the amnion
abnormal mast cell degranulation abnormalities in the exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell
increased anterior commissure size enlarged round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle
abnormal perivascular macrophage morphology any structural anomaly of macrophages that line the small blood vessels
abnormal abducens nerve morphology any structural anomaly of the sixth cranial nerve, which originates in the abducens nucleus of the pons and sends motor fibers to the lateral rectus muscles of the eye
decreased activation-induced b cell apoptosis decreased frequency of B cell apoptosis that occurs upon engagement of either the B cell receptor or CD40, but not both; the engagement leads to expression of fas or related receptors that make the B cell susceptible to fas-ligand mediated death
pyelonephritis
complete embryonic lethality death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)
abnormal sympathetic postganglionic fiber morphology any structural anomaly of any or all of the noradrenergic and some adrenergic axonal fibers projecting from a sympathetic ganglion to an effector organ
decreased cranium width having a decreased side-to-side, or lateral distance of the cranium
abnormal excitatory postsynaptic potential defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization
failure of adrenal epinephrine secretion inability of adrenal gland to deliver epinephrine into the blood stream
increased alimentary system tumor incidence greater than the expected number of tumors originating in the alimentary system in a given population in a given time period
cardiac muscle necrosis morphological changes resulting from pathological death of cardiomyocytes or a portion of the cardiac muscle tissue; usually due to irreversible damage
increased urine flow rate increased volume of urine produced in a specified period of time
gastric ulcer
abnormal erythropoiesis atypical process of the formation of enucleated fetal and adult erythrocytes
thick retinal ganglion layer increased thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain
increased trabecular bone mass greater total amount of trabecular bone tissue contained in the skeleton
abnormal intestinal transit time increase or decrease in the time it takes for a bolus of material to pass through the intestine
abnormal immune system physiology deviation from the normal function of the immune system
increased igd level greater than normal immunoglobulin class D level
absent metoptic pilar absence of the posterior border of the optic nerve foramen
decreased prostate gland duct number fewer than normal minute canals that pass the prostatic secretions to the urethra
abnormal sublingual duct morphology any structural anomaly of the canals that drain the sublingual gland
increased embryonic neuroepithelium thickness increased width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells
abnormal hippocampus stratum radiatum morphology
abnormal rectum morphology any structural anomaly of the terminal portion of the intestinal tube adjacent to the anus
abnormal hair-down neuron morphology anomaly of the subcutaneous mechanosensitive D-hair (down-hair) neurons, which innervate hair follicles, and are characterized by a large-amplitude Cav3.2 T-current involved in the amplification of slow-moving and/or light touch stimuli
decreased ovulation rate reduction in the frequency in which an ovum (or ova) is/are released from a rupturing ovarian follicle(s)
impaired luteinization atypical transformation of the mature ovarian follicle and its theca interna into a corpus luteum after ovulation
delayed dark adaptation increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights
abnormal renal calcium reabsorbtion any anomaly in the process by which calcium ions are transported out of the renal tubules back into the bloodstream
increased hemangioma incidence greater than the expected number of a benign tumor characterized by blood-filled spaces lined by benign endothelial cells, occurring in a specific population in a given time period; a cavernous hemangioma is characterized by large endothelial spaces (caverns), and a capillary hemangioma is characterized by small endothelial spaces
hyperlipidemia An elevated lipid concentration in the blood.
decreased bleeding time less than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function
absent schwann cell precursors missing progenitors of cells that sheath the axons of the peripheral nervous system
abnormal hair cuticle anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft
abnormal pulse pressure anomaly in the difference between systolic and diastolic blood pressure
absent hindlimb buds absence or loss of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species)
increased intestinal cholesterol absorption augmented ability of the body to take up cholesterol into the blood by absorption from the small intestine
abnormal bronchoconstrictive response anomaly in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography
abnormal dendritic cell morphology any structural anomaly of a cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation
hyperchromasia increased capacity of a cell to stain with dye; usually refers to staining of cell nuclei with hematoxylin
increased circulating noradrenaline level greater than the normal blood amount of the hormone secreted by the adrenal medulla and acts as a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS; noradrenaline is the demethylated biosynthetic precursor of epinephrine
coronary-cameral fistula an abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering a chamber of the heart (coronary-cameral fistula)
abnormal kidney collecting duct principal cell morphology any structural abnormality of the cuboidal epithelial cells found in the collecting ducts of the kidney which regulate sodium and potassium balance via channels located on the cells apical membrane. Aldosterone increases the number of Na+/K+-ATPase pumps that allow increased sodium reabsorption and potassium secretion whereas antidiuretic hormone (vasopressin) determines the expression of aquaporin channels on the cell surface; together, aldosterone and vasopressin let the principal cell control the quantity of water that is reabsorbed
abnormal large intestine morphology any structural anomaly of the portion of the digestive tube extending from the ileocecal valve to the anus, consisting of the cecum, colon, rectum and anal canal
absent interventricular septum membranous part absence of the membranous portion of the wall between the two lower chambers of the heart
increased compensatory renal growth increased additional growth of a kidney upon removal of the other kidney through surgery or disease
small cecum reduced size of the large sac at the ileum and large intestine junction
abnormal testosterone level An anomalous concentration of testosterone in the blood.
ovary inflammation
abnormal liver weight anomaly in the average weight of the bile-secreting exocrine gland
absent sperm mitochondrial sheath absence of the tightly packed helical sheath of ATP-producing mitochondria, normally found in the midpiece of the sperm flagellum
decreased lymphoma incidence less than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period
absent incisors
hemorrhagic ascites the presence of bloody or blood-stained serous fluid, frequently resulting from metastatic carcinoma, in the peritoneal cavity
abnormal response to novel odor altered behavioral reaction associated with exposing an animal to a novel odor
absent visceral endoderm absence of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut
decreased sensitivity to induced cell death increase in the exposure level to an agent that is required to induce cessation of function at the cellular level
abnormal platelet volume Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.
enlarged heart
abnormal heart atrium auricular region morphology any structural anomaly of the small conical pouch projections located on the upper anterior portion of each atrium of the heart
abnormal skeletal muscle weight any anomaly in the average skeletal muscle weight
superior-inferior ventricles an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships
hypermyelination increased myelin formation in a myelin sheath over all or part of an axon or fiber tract, usually resulting in a thicker myelin sheath
abnormal hippocampus ca2 region morphology any structural anomaly of the smallest cytoarchitectural subregion of the Ammon's horn region of the hippocampal formation, located between CA3 and CA1, comprised of pyramidal neurons receiving both Schaffer collateral and mossy fiber input
increased susceptibility to ototoxicity-induced hearing loss greater than normal reduction in hearing sensitivity following exposure to an ototoxic compound, such as aminoglycoside-induced hearing loss mediated via a glutamate excitotoxic process
abnormal merkel's receptor morphology any structural anomaly of the modified epidermal cells located in the stratum basale and found mostly in areas where sensory perception is acute
abnormal fibrocartilage morphology any structural anomaly of the nonvascular, resilient, flexible connective tissue containing thick bundles of collagenous fibers; found primarily in intervertebral disks
decreased subcutaneous adipose tissue amount reduction in amount of adipose tissue beneath the skin
abnormal maternal decidual layer morphology any structural anomaly of the maternal uterine-derived portion of the placenta
abnormal lateral ganglionic eminence morphology any structural anomaly of a distinct elevation of a transient proliferating cell mass of the fetal subventricular zone; this mass contributes most of its cells to the striatum; however, neocortex, thalamus, septum and olfactory bulb neurons are also partly derived from the LGE
muscle degeneration pathological deterioration of muscle tissue, often accompanied by loss of function
abnormal meninges morphology any structural anomaly in any of the membranes covering the spinal cord and brain, including the dura mater (external), arachnoid (middle), and pia mater (internal)
abnormal intercalated disc morphology any structural anomaly in the electron dense junctional complex, at the end to end contacts of cardiac muscle cells, that contains two types of membrane junctions i.e. gap junctions and desmosomes; the intercalated discs permit communication between the cells such that there is a sequential contraction of the cells from the bottom of the ventricle to the top, facilitating maximal ejection of blood from the ventricle during contraction
abnormal ear pigmentation anomaly in the coloration of the skin of the outer ear due to changes in the amount, shape, or distribution of cells producing pigment
reduced enamel thickness thin hard coating of the exposed portion of the tooth
abnormal enamel organ morphology any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth
tricuspid valve regurgitation
abnormal adrenal gland physiology any functional anomaly of the surparenal gland, including the ability to produce and secrete hormones
abnormal mammary gland growth during lactation anomaly in the final stage of mammary growth that occurs during the start of lactation
pulmonary artery stenosis An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
abnormal redox activity defect in the processes that maintain the redox environment of a cell or compartment within a cell
decreased incidence of tumors by chemical induction lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens
thin interventricular septum decreased thickness of the wall between the two lower chambers of the heart
increased lung adenocarcinoma incidence
abnormal hair follicle dermal papilla morphology any structural anomaly of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts
chronic joint inflammation persistent inflammatory response in the joints, often caused by persistent infection or during an autoimmune response
decreased cell mass reduction in the total physical bulk or volume of a cell compared to the normal state
abnormal soleus weight anomaly in the weight of the superficial flat broad muscle of the calf that is responsible for plantar flexion of the foot
rectovaginal fistula The presence of a fistula between the vagina and the rectum.
abnormal macrophage chemotaxis anomaly in the accumulation of macrophages in a specific location in response to a wide variety of substances released at the sites of inflammatory reactions
absent hair follicle dermal papilla absence of the mesodermal signaling center of the hair follicle consisting of closely packed specialized mesenchymal fibroblasts
abnormal ion homeostasis anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the fluids and tissues
abnormal sex gland physiology any functional anomaly of any of the organized aggregations of cells that function as secretory or excretory organs and are associated with reproduction
abnormal cardiac jelly morphology any structural anomaly of the gelatinous noncellular material between the endothelial lining and the myocardial layer of the developing heart
dissociated hepatocytes disorganization of cohesive hepatocyte structure
decreased cns synapse formation a reduction in the frequency of the process of generating the initial connections between an axon and effector tissue or neuron
telangiectases vascular lesion formed by dilation of a group of small blood vessels
abnormal sperm mitochondrial sheath morphology any structural anomaly or impairment of the tightly packed helical sheath of ATP-producing mitochondria restricted to the midpiece of the sperm flagellum
abnormal posterior stroma morphology any structural anomaly of the posterior segment of the lamellated connective tissue layer of the cornea
increased blinking frequency greater number of occurrences of the normal reflex of closing the eyes frequently and rapidly
uveitis
increased anal adenocarcinoma incidence
abdominal situs ambiguus an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements
abnormal hv interval any anomaly in the time from the initial deflection of the His bundle (H) potential and the onset of ventricular activity
decreased fluid intake reduction in the total amount of fluid taken in over time when compared to the normal state
abnormal sternebra morphology any structural anomaly of one segments of the primordial sternum of the embryo; these segments fuse to form the body of the adult vertebrate sternum
abnormal olfactory -discrimination memory anomaly in the ability to exhibit a differential response to olfactory stimuli that is achieved by the reinforcement of the desired response for each particular olfactory stimulus
absent ectoplacental cone missing the thickened trophoblast of the blastocyst in rodents that becomes the fetal portion of the placenta
decreased purine-nucleoside phosphorylase activity reduced ability to catalyze the reaction: purine nucleoside + phosphate = purine + alpha-D-ribose 1-phosphate
abnormal prevertebral ganglion morphology any structural anomaly of the sympathetic ganglia located in front of the vertebral column and are associated with the major branches of the abdominal aorta; these include the celiac, aorticorenal, superior and inferior mesenteric ganglia
wavy vibrissae undulations or a sinusoidal shape of the stiff hairs that project from the face around the nose of most mammals, and which act as touch receptors
abnormal lactotroph morphology any structural anomaly of an acidophilic cell of the anterior pituitary that produces prolactin
increased sensitivity to xenobiotic induced morbidity/mortality decrease in the amount of a foreign compound required to cause death or diseased state
abnormal incisor color anomaly in the color and shading of the incisor, which normally presents in shades of white
sensorineural hearing loss OMIM mapping confirmed by DO. [LS].
abnormal professional antigen presenting cell physiology any functional anomaly of a cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response
susceptible to malignant hyperthermia increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
enlarged heart atrium increased size of one or both of the two upper chambers of the heart, to which the blood returns from the circulation
tricuspid valve stenosis A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
abnormal forelimb zeugopod morphology any structural anomaly of the distal elements of the forelimb including the radius and ulna
insulitis a histological change in the islets of Langerhans characterized by edema and the infiltration of small numbers of white blood cells
abnormal immune tolerance anomaly in the process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it
abnormal visual pursuit An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
adrenal gland cyst presence of fluid-filled usually benign growths in the adrenal gland
increased circulating glycerol level elevated blood level of trihydroxy sugar alcohols that are precursors for synthesis of triacylglycerols, and of phospholipids and cellular glucose in the liver and adipose tissue; fat catabolism results in the release of glycerol and fatty acids into the bloodstream to be used as an energy source
absent alisphenoid bone absence of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young
increased salivary gland mucosal cell number greater than normal number of cells that form mucus in the salivary glands
dermal hyperplasia overdevelopment or increased size, usually due an increased number of cells in the dermal layer of the skin
abnormal trabecular bone morphology Abnormal structure or form of trabecular bone.
increased granulosa cell tumor incidence greater than the expected number of neoplasms derived from somatic cells of the sex cord in the ovary a given population in a given time period
increased urine beta2-microglobulin level greater than the normal amount of beta2-microglobulin in the urine; may indicate renal tubule disease, drug-induced renal toxicity, heavy metal-induced renal disease, lymphomas, leukemia, or myeloma
abnormal circadian regulation of heart rate anomaly in the process in which an organism modulates its heart rate at different values with a regularity of approximately 24 hours
vaginal inflammation
absence of ampa-mediated synaptic currents absence of a measured amplitude, current density or response to stimulation of NMDA receptors
kidney collecting duct atrophy acquired diminution of the size of the kidney collecting ducts associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal smooth muscle morphology any structural anomaly of any of the unstriated muscle fibers of the internal organs, blood vessels, hair follicles, etc.
increased circulating interleukin-13 level increase in the amount in the blood of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
abnormal motor coordination/ balance
renal glomerular synechia presence of adhesions (synechiae) between the Bowman's capsule and the glomerular tuft; may develop when areas of glomerular capillary basement membrane denuded of visceral epithelial cells come in contact with the parietal epithelium of Bowman's capsule
acoria absence of the pupil of the eye
increased thymocyte number greater than expected number of immature T cells located in the thymus
abnormal lean body mass anomaly in the amount of the fat-free physical bulk or volume of the body including all its components except adipose tissue
abnormal lens epithelium apoptosis anomaly in the number of lens epithelial cells undergoing programmed cell death
mammalian phenotype the observable morphological, physiological, behavioral and other characteristics of mammalian organisms that are manifested through development and lifespan
abnormal synchondrosis anomalous or persistent cartilaginous fusion of two bones
enlarged adrenocortical cells larger size of cells of the steroid hormone-producing cells of the cortex of the adrenal gland
abnormal ureteric bud morphology any structural anomaly of the epithelial swelling on the metanephric duct that elongates to invade the adjacent metanephric mesenchyme; interactions between the ureteric bud and the metanephric mesenchyme leads to the initiation of outgrowth and repetitive branching of the UB that ultimately generates the definitive renal collecting system and induces formation of renal vesicles from the mesenchyme tissue
abnormal seminal vesicle size anomaly in the size of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
abnormal otic pigmentation any anomaly in the pigment or pigment-producing cells of the inner ear resulting in abnormal melanoblast numbers, distribution, or pigment during development
abnormal filiform papillae morphology any structural anomaly of the keratinized projections on the dorsal surface of the tongue
abnormal tail development anomaly in the formation of the tail
abnormal intermediate mesoderm any anomaly of the band of mesoderm located between the segmented paraxial mesoderm and the lateral plate mesoderm, that develops into the nephrogenic cord
abnormal neurotransmitter secretion anomaly in the production or release of endogenous signaling molecules into a synaptic cleft; neurotransmitters are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell
abnormal hematopoietic system physiology any functional anomaly of the fluid and/or its suspended elements that circulate(s) through the heart, arteries, capillaries, and veins
delayed somite formation late onset of the induction and/or differentiation of the somites
abnormal chondrocyte morphology any structural anomaly of a polymorphic cell that forms cartilage
abnormal tectorial membrane morphology any structural anomaly of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals
stomatocytosis The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
increased pancreas adenoma incidence
abnormal kidney pyramid morphology any structural anomaly of the conical mass of tissue, containing part of the secreting and collecting tubules, whose base faces the renal cortex
abnormal rhombomere morphology any structural anomaly of any of the transiently divided segments of the developing neural tube of vertebrate embryos found within the hindbrain region in the area that will eventually become the rhombencephalon; the rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure
abnormal autopod morphology any structural anomaly of the distal elements of the limb of vertebrates including the pedal or prehensile appendages (e.g. hand, foot, paw, phalanges and/or digits)
decreased circulating adrenaline level less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels
absent guard hair absence of the long, straight truncal hairs that contain two air cells in the medulla
hyperactivity
abnormal neural crest cell delamination any anomaly in the process by which a neural crest cell (NCC) physically dissociates from the neuroepithelium in the dorsal aspect of the neural tube; premigratory NCCs exist within a fully polarized epithelial layer, adjoined by adherens junctions and tight junctions; NCC delamination involves an epithelial-mesenchymal transition (EMT) during which epithelial cells are converted into migratory mesenchymal cells; EMT requires loss of apical-basal cell polarity and dissolution of tight junctions and is accompanied by changes in cytoskeletal organization and a switch in adhesive properties so that cells can separate from the neuroepithelium and emigrate
abnormal primordial germ cell apoptosis change in the timing or the number of primordial germ cells undergoing programmed cell death
abnormal bone mineral content any anomaly in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area
increased activated t cell number greater than normal numbers of effector T cells
decreased nerve conduction velocity A reduction in the speed at which electrical signals propagate along the axon of a neuron.
abnormal inner hair cell kinocilium morphology any structural anomaly of the nonmotile primary cilium that is found at the apical surface of inner hair cells
bifid tongue Tongue with a median apical indentation or fork.
parakeratosis Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
fragile skeleton
absent muscle spindles absence of the sensory organs in muscle that are involved in the stretch reflex
liver fibrosis
abnormal clara cell morphology any structural anomaly of the rounded, club-shaped, nonciliated cell protruding between ciliated cells in bronchiolar epithelium, believed to be secretory in function
abnormal liver cholesterol level aberrant amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
abnormal peripheral b cell anergy any anomaly of the processes of B cell anergy that occur outside the bone marrow
abnormal crista ampullaris morphology any structural anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass
dilated glomerular capillary stretched or widened aperture of the luminal space of the small branching blood vessel in the kidney glomerulus that receives blood from the kidney afferent arteriole
degranulated pancreatic beta cells insulin-secreting cells of the pancreas do not contain vesicles containing insulin
deformed nails atypical shape or size of the nails
decreased tongue size
failure of mullerian duct regression failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian hormone signaling and may allow development of the female reproductive tract in males
abnormal atrioventricular node conduction anomaly in the generation or transfer of cardiac electrical impulses from the atrioventricular node to the atrioventricular bundle
absent vertebral spinous process missing the dorsal projection of the vertebral arch that projects backward and downward from the junction of the laminae, and serves for the attachment of muscles and ligaments
decreased ige level less than normal immunoglobulin class E level
abnormal medium spiny neuron morphology any structural anomaly of the inhibitory projection neurons located in the striatum that integrate glutamatergic signals arising from the cerebral cortex and thalamus
abnormal secondary palate development any anomaly in the formation of the part of the palate that is formed during embryonic development when palatal projections from the inner part of the maxillary processes emerge, extend and elevate into a horizontal position above the tongue
impaired muscle contractility inability or reduced ability of a muscle to shorten or to develop increased tension
abnormal myelin sheath morphology any structural anomaly of the insulating envelope that surrounds nerve fibers or axons
absent ribs A developmental anomaly with absence of one or more ribs.
abnormal podocyte morphology any structural anomaly of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane
infertility
abnormal vas deferens morphology A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.
increased skeletal muscle fiber number increased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles
abnormal parietal bone morphology any structural anomaly of the curved bone forming part of the vault of the cranium
delayed eyelid opening late average time for the first postnatal eye opening
wolffian duct degeneration a retrogressive impairment of function or destruction of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and later develop into the ductus deferens in the male
short vertebral body reduced length of the main cylindrical portion of the vertebra ventral to the vertebral canal
abnormal circulating copper level any anomaly in the blood concentration of copper
pale kidney kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition
thick lung-associated mesenchyme increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development
arteritis Arterial inflammation.
enhanced fertility increased ability to produce live offspring
abnormal subplate morphology any structural anomaly of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate
partial postnatal lethality the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)
delayed brain development the delay or slower progress of the growth and differentiation of the brain
abnormal prenatal growth/weight/body size limited or accelerated growth or development apparent before birth
decreased susceptibility to bone fracture reduced probability that injury or disease will result in damaged or broken bones
decreased serotonin level reduction in the amount of biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets that mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity
decreased urine osmolality reduction in the amount of ions in the urine compared to the normal state
decreased otolith number reduced average number of the crystalline calciferous particles adhering to the otolithic membrane
absent ovary capsule missing the tough, fibrous capsule surrounding each ovary
increased vestibular hair cell number increased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve
absent patella Absence of the patella.
abnormal urine nucleotide level any change in the urinary level of glycosamines consisting of a nucleobase, a five-carbon sugar moiety (ribose or deoxyribose), and may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates)
increased diameter of humerus increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge
abnormal response to injury anomaly in the body's reaction to trauma, especially that by physical means
abnormal activated sperm motility any anomaly in the type of sperm mobility that is observed in freshly ejaculated sperm and is thought to help propel the sperm through the female reproductive tract to the oviduct; normally, the flagellum of an activated sperm generates a symmetrical, lower amplitude waveform that drives the sperm in a relatively straight line
abnormal melanocyte morphology any structural anomaly of the cells that produce pigment
epidermis stratum spinosum hyperplasia overdevelopment or increased size, usually due an increased number of cells, of the layer of polyhedral cells in the epidermis; shrinkage and adhesion of these cells gives a spiny or prickly appearance
small seminal vesicle reduced size of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
increased skeletal muscle weight greater than average skeletal muscle weight
abnormal mammary gland alveolus morphology any structural anomaly of the sac-like structure of the mammary gland that secretes milk after pregnancy
increased creatine level increase in the amount of the amino acid that is found in muscle tissue of vertebrates as phosphocreatine and supplies energy for muscle contraction when metabolized
absent ulna Missing ulna bone associated with congenital failure of development.
complete embryonic lethality between implantation and placentation death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)
liver degeneration deterioration of the liver due to injury or disease, often accompanied by loss of function
abnormal ovary morphology any structural anomaly of the female reproductive gland containing the germ cells
eye hemorrhage bleeding into the eye
increased interleukin-10 secretion increase in the production or release of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation
abnormal vascular smooth muscle development anomaly in the process of forming the nonstriated, involuntary muscle tissue of the blood vessels
increased renal vascular resistance greater than the normal force opposing blood flow in the kidney blood vessels
abnormal ascending aorta morphology any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise
small sacral vertebrae reduced size of any or all of the bony segments of the spine located posterior to the lumbar vertebrae and anterior to the caudal vertebrae
hepatic necrosis The presence of necrosis affecting the liver.
mixed cellular infiltration to dermis gradual accumulation of mixed cell types in the dermis that are not normally found there
decreased lipoprotein lipase activity reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a carboxylate
abnormal palatal shelf elevation any anomaly in the process in which the palatal shelves move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue
elongated neck increased length of the neck
decreased embryo size smaller proportions of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)
abnormal chest morphology any structural anomaly of the part of the body between the neck and the abdomen
absent neural folds absence of the elevated margins of the neural groove
decreased organ/body region tumor incidence less than the expected number of tumors originating in a specific body region or organ in a given population in a given time period
increased myoepithelioma incidence greater than the expected occurrence of a benign tumor of myoepithelial cells, occurring in a specific population in a given time period
absent gametes absence of mature reproductive cells, ovum or spermatozoon, capable of fusing with a cell of similar origin, but opposite sex to give a zygote
decreased nk t cell number reduced number of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
disorganized testis cords derangement of the pattern of the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence
abnormal mullerian duct morphology any structural anomaly of the transient embryonic drainage tubes of the embryonic kidney (mesonephric tubules) that empty into the cloaca and in the female develop into the oviducts, uterus, and vagina
abnormal adiponectin level abnormal level of a protein hormone that regulates glucose homeostasis and metabolism of lipids; it is normally produced by adipose tissue
abnormal systemic artery morphology any structural anomaly of the arteries that carry oxygenated blood away from the heart to the body, as opposed to the pulmonary arteries, which carry deoxygenated blood to the lungs
abnormal somatic nervous system physiology any functional anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs)
abnormal morula morphology any structural anomaly of the globular solid mass of blastomeres formed by cleavage of a zygote that typically precedes the blastula, typically after the zygote has divided into 32 cells
lethality throughout fetal growth and development death anytime between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)
increased cholesterol level greater than normal amount in the body of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues
abnormal intestinal mineral absorption any anomaly in the ability of the body to take up inorganic substances that have importance in body functions into the blood by absorption from the small intestine
abnormal interferon-alpha secretion anomaly in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells
decreased ductal branching in the coagulating gland fewer branches and distal tips of the vesicles of the coagulating gland
abnormal gubernaculum morphology any structural anomaly of the genitoinguinal ligaments that, in the male, connect the fetal testis to the developing scrotum, and, in the female, connect the ovaries to the uterus
abnormal auditory tube anomaly in the tube connecting the tympanic cavity and the nasopharynx that allows equalization of pressure between the tympanic cavity and the environment
bifurcated tail the appearance of an abnormal division in the flexible elongated appendage located at the caudal end of the torso in many species
thick epidermis stratum spinosum increased thickness of the stratum spinosum; the polyhedral cell layer
decreased urine flow rate reduced volume of urine produced in a specified period of time
abnormal oviduct transport increased or decreased rate of passage of embryos or oocytes from the ovary to the uterus
abnormal rostral neuropore morphology any structural anomaly of the temporary opening at the extreme rostral (cephalic) end of the early embryonic prosencephalon (forebrain); the anterior neuropore appears before the process of neural tube closure is complete
abnormal skeleton morphology any structural anomaly of the bony framework of the body in vertebrates
ectropion
homeostasis/metabolism phenotype
abnormal kidney apoptosis change in the timing or the number of kidney cells undergoing programmed cell death
abnormal brain wave pattern any anomaly in the standard pattern of rhythmic and rapid fluctuation of electrical potential between parts of the brain, often visualized on an electroencephalogram (EEG); the pattern is often measured to diagnose neurological conditions such as seizure disorders (epilepsy)
short zygomatic bone reduced length of the bone that forms the prominence of the cheek
radius hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, in the short bone of the lateral forearm
abnormal aqueous humor anomaly in the clear, watery fluid that fills the anterior and posterior chambers of the eye
decreased double-negative t cell number reduced numbers of the subset of T cells found in the thymus that express neither CD4 nor CD8
absent fourth pharyngeal arch absence of the structure of the fourth arch which contributes to development of the cartilage of the larynx, laryngeal, pharyngeal, and soft palate muscles, superior parathyroid gland, and C-cells of the thymus
abnormal round window morphology any structural anomaly of the opening on the medial wall of the middle ear leading into the cochlea, closed in life by the secondary tympanic membrane; serves to regulate fluid pressure in the inner ear
abnormal vagus ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the vagus nerve
increased triglyceride level greater concentration of naturally occurring esters of three fatty acids and glycerol; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirectional transference of adipose fat and blood glucose with the liver
abnormal neural tube morphology/development any structural anomaly of or development of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord)
decreased mast cell protease storage reduced amounts of proteolytic enzymes stored in mast cells
abnormal cerebellum vermis lobule iii morphology The central lobule (lobules II/III) is a single structure in humans, but it is divided by the posterior superior fissure in rodents.
renal cast any of the various casts formed from gelled protein precipitated in the distal convoluted tubules and collecting ducts of nephrons and molded to the tubular or duct lumen which dislodge and pass into the urine; types named for their constituent material include acellular casts (e.g. granular, hyaline, waxy, or fatty casts) and cellular casts (e.g. red or white blood cell casts)
enlarged pancreas increase of the size of the pancreas compared to controls
hypochromic microcytic anemia A microcytic anemia characterized by paler than normal blood cells.
abnormal lymph node morphology any structural anomaly of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue, and is the site where acquired immune responses are launched
abnormal sexual maturation a delay or a block in the development of the sexual organs at a given age
abnormal nk cell degranulation anomaly in the exocytosis of secretory granules containing preformed mediators, such as perforin and granzyme, from NK cells
abnormal circulating apolipoprotein e level anomaly in the amount in the blood of a protein that is frequently a component of a VLDL, HDL, and chylomicron complexes, and functions in cholesterol transport
decreased primordial ovarian follicle number fewer than normal numbers of the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles
decreased common myeloid progenitor cell number reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages
abnormal vomeronasal organ morphology any structural anomaly of the tubular, crescent-sensory organ with a luminal epithelium that contains chemosensitive receptor cells with microvilli that are thought to detect pheromones and transmit signals to the remainder of the accessory olfactory system; the organ lies at the base the nasal cavity and is split into two, separated by the nasal septum
increased lung endothelial cell proliferation greater ability of an endothelial cell in the pulmonary vasculature to undergo expansion by cell division
abnormal geniculate ganglion morphology any structural anomaly of the group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)
decreased embryonic cilium length reduced length of the cilia of the mouse embryo found on the cells of the embryonic node
abnormal hemangioblast number deviation from the normal numbers of pluripotent precursor cells in the yolk sac that can give rise to mesenchymal cells including erythrocytes and endothelial cells; hemangioblasts are the progenitors that form the blood islands
absent subplate absence of the transient outer neural tube region that contains the first generated post-mitotic neurons that receive synaptic input from thalamic axons and in turn project axons to the developing cortical plate
absent podocytes absence of a modified epithelial cell of the visceral layer of the Bowman capsule in the renal corpuscle; it has a small perikaryon and a number of primary and secondary foot processes that interdigitate with those of other podocytes and are attached to the outer surface of the glomerular capillary basement membrane
decreased retinal cone cell number reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment
pituitary intermediate lobe hyperplasia overdevelopment or increased size, usually due to increased cell number, of the thin boundary between the adenohypophysis and neurohypophysis of the pituitary that produces melanocyte stimulating hormone (MSH); this area is small or absent in mammalian adults
decreased cardiomyocyte apoptosis decrease in the number of cardiac muscle cells undergoing programmed cell death
abnormal fetal growth/weight/body size limited or accelerated growth or development apparent during the fetal period (sensu Mus: from E14 through birth)
abnormal fetal atrioventricular canal septation anomaly in the process by which the dorsal and ventral endocardial cushions develop in the walls of the common atrioventricular canal, grow toward each other and fuse, dividing the common atrioventricular canal into right and left atrioventricular canals and the atrioventricular septum
abnormal sperm nucleus morphology any structural anomaly of the sperm head nucleus, including an abnormal nuclear shape or defects in the compaction of nuclear chromatin
abnormal placenta labyrinth size anomaly in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
impaired branching involved in terminal bronchiole morphogenesis partial or complete failure of the process in which the branched structure of the terminal bronchioles are generated and organized
buphthalmos OMIM mapping confirmed by DO. [LS].
increased corpora lutea number greater than normal numbers of yellow endocrine body formed in the ovary after follicle rupture in a given oestrous cycle
increased urine sodium level higher than normal amount of sodium in the urine
paravertebral ganglia hyperplasia overdevelopment or increased size, usually due to increased cell number, of the groups of postsynaptic neurons located at intervals along the sympathetic trunk, including the superior cervical, middle cervical and stellate (cervicothoracic) ganglia as well as the thoracic, lumbar and sacral ganglia
increased igg2a level greater than normal immunoglobulin class G2a level
fecal incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
adrenal medulla hyperplasia overdevelopment or increased size of the inner portion of the adrenal gland that consists mainly of chromaffin cells, usually due to an increase in the number of cells
increased mitochondria number greater than normal number of the cellular organelles responsible for energy production
absent mature b cells absence of the mature form of a B cell, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex
abnormal summary potential anomaly in the electrophysiological recording of the activity of several cells
absent pulmonary alveoli absence of the saclike terminal dilation of the respiratory bronchioles, alveolar ducts and alveolar sacs across which gas exchance occurs between alveolar air and the pulmonary capillaries
small penile bone size reduction or truncation of the unique bone of variable size and shape located in the glans penis of most mammals except humans
thrombosis formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements
cleft palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
abnormal perineum morphology any structural anomaly of the area between the genital organs and the anus that lies beneath the pelvic diaphragm
enlarged ovary increased size of the female reproductive gland containing the germ cells
altered susceptibility to bacterial infection a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
decreased urine glucose level a reduced amount of glucose in the urine compared to the normal state
increased activity of parathyroid
decreased interscapular fat pad weight less than average weight of the encapsulated adipose tissue located between the scapulae
absent vestibular hair cell stereocilia complete absence of the nonmotile, actin-filled specialized microvilli (stereocilia) which are normally arrayed on vestibular hair cells in a staircase-like pattern
abnormal spermatogonia morphology any structural anomaly of the large unspecialized male germ cells that give rise to spermatocytes
ectopic cranial bone growth growth of extra bony structures in or near the cranium
intestinal ulcer lesions in the mucous lining of the intestine
increased interleukin-13 secretion increase in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses
defective assembly of class ii molecules impaired production of major histocompatibility complex class II molecules
absent zygomatic bone absence of the quadrilateral bone that forms the prominence of the cheek
skeletal muscle hyperplasia overdevelopment or increased size of the skeletal muscle, usually due an increased number of cells
increased horizontal stereotypic behavior increase in the frequency of repetitive rearings (greater than one per second)
abnormal angiotensin i-converting enzyme activity reduced activity of the exopeptidase that catalyses the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, and is also involved in the inactivation of bradykinin
anal atresia
absent marginal zone b cells absence of CD23-negative, CD21-positive B cells of the marginal zone of the spleen expressing a B cell receptor usually reactive to bacterial cell wall components or senescent self components such as oxidized-LDL
absent malleus manubrium absence of the handle of the malleus
short fibula Underdevelopment of the fibula.
decreased pancreatic endocrine progenitor cell proliferation reduced ability of a pancreatic endocrine progenitor cell population to undergo expansion by cell division
otic vesicle hypoplasia underdevelopment of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear, usually due to a reduction in cell number
abnormal food intake any anomaly in the total number of calories/food amount taken in over time when compared to the normal state
abnormal interleukin-5 secretion anomaly in the production or release of a cytokine that promotes differentiation and activation of eosinophils; it also triggers activated B-cells to differentiate into immunoglobulin-secreting cells
abnormal vital capacity anomaly in the amount of air that is exhaled by a maximal expiration following a maximal inspiration
impaired cued conditioning behavior decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)
absent retina absence of the nerve layer lining the back of the eye that senses light, and creates impulses that travel through the optic nerve to the brain
hemoglobinuria
decreased luteinizing hormone level lower than normal concentration of LH
disorganized placental labyrinth derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood
abnormal circulating interleukin-18 level anomaly in the amount in the blood of a cytokine which enhances the cytotoxic activity of NK cells and cytotoxic T-cells and appears to play a role both as neuroimmunomodulator and in the induction of mucosal immunity
absent axillary lymph nodes absence of the lymph nodes located around the axillary vein that receive lymphatic drainage from the upper or forelimb, scapular region and pectoral region
abnormal huddling behavior deviation from the usual tendency of mice to pile together when sleeping
abnormal neopterin level anomaly in the concentration of a pteridine derivative, which is present in body fluids and is a precursor in the biosynthesis of biopterin; elevated levels result from immune activation, malignant disease, allograft rejection, and viral infection
increased physiological sensitivity to xenobiotic decrease in the dose or concentration of a foreign compound required to induce a specific level of physiological response
abnormal subiculum morphology any structural anomaly of the transitional zone between the parahippocampal gyrus and the Ammon gyrus
athyroidism congenital absence of the thyroid gland or suppression or absence of its hormonal secretion
decreased interferon-gamma secretion reduction in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation
increased total retina thickness increased width of the retina through the center plane
disorganized myocardium derangement of the pattern cardiac muscle layers
absent myocardial trabeculae absence of the supporting bundles of muscular fibers lining the walls of the heart
abnormal seminiferous tubule epithelium morphology any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule
abnormal intervertebral disk development any anomaly in the formation of the cartilaginous and gelatinous structure found between vertebrae
abnormal afterhyperpolarization anomaly in the currents that follow an action potential and influence firing frequency and neuronal integration
myocardial fiber degeneration deterioration or destruction of the terminally differentiated, non-proliferative, cardiac muscle fibers, the multinucleated muscle cells of the heart
abnormal ameloblast morphology any structural anomaly of the epithelial cells of the inner layer of the enamel organ of the developing tooth
priapism A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
abnormal litter size deviation from the normal number of live born pups in a litter
abnormal b-2 b cell morphology any structural anomaly of a conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells
abnormal lung lobe morphology any structural anomaly of any of the anatomically and functionally distinct subunits (lobes) comprising the left or right lung, where each lobe receives air from its own secondary bronchus and is separated from it neighbors by one or more fissures (walls of connective tissue)
enlarged nasal bone increased size of either of two rectangular bone plates forming the bridge of the nose
increased urine histidine level increased excretion of histidine and related imidazole metabolites in urine
abnormal coronary vein morphology any structural anomaly of any of the veins that return blood from the heart muscles to the right atrium through the coronary sinus
absent vertebrae
abnormal eye posterior chamber morphology any structural anomaly of the ring-like space, filled with aqueous humor, between the iris/pupil anteriorly and the lens and ciliary body posteriorly
abnormal adrenal gland morphology any structural anomaly of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
altered tumor susceptibility greater than or less than the average number of tumors, usually a specific type, arising in a given organism when compared to controls
ectopic cerebral cortex pyramidal cells the cerebral cortex pyramidal cell body resides in places other than the pyramidal cell layer of the cerebral cortex
thymus atrophy acquired diminution of the size of the thymus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
atrial thrombosis formation or presence of a thrombus in the atria of the heart
increased myocardial infarction size increased size of necrotic area from normal of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors
abnormal primordial ovarian follicle morphology any structural anomaly in the ovarian follicle in which the primary oocyte is surrounded by a single layer of flattened follicular cells; primordial follicles are indiscernible to the naked eye and develop to primary, secondary, and finally mature vesicular follicles
polysyndactyly Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.
abnormal aorta elastic fiber morphology any structural anomaly of the slender connective tissue fiber in aortic tissue characterized by great elasticity
abnormal pre-b cell morphology any structural anomaly of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface
increased susceptibility to dystrophic cardiac calcinosis more likely to be stricken by dystrophic cardiac calcinosis
liver vascular congestion obstruction of the normal flux of blood within the blood vessel network of the liver
situs inversus totalis A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
increased mammary adenoacanthoma incidence higher than normal incidence of malignant tumors in which some cells have undergone squamous metaplasia in the mammary gland
arachnodactyly Abnormally long and slender fingers (spider fingers).
increased circulating amylase level greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood
abnormal thyroid gland isthmus morphology any structural anomaly of the narrow median bridge that joins together the lower thirds of the two lateral (right and left) lobes of the thyroid gland and usually covers the second and the third tracheal rings; the thyroid isthmus is variable in presence and size, can change shape and size, and can encompass a cranially extending pyramid lobe (lobus pyramidalis or processus pyramidalis), remnant of the thyroglossal duct
abnormal zygomatic arch morphology any structural anomaly of the bony arch in vertebrates that extends along the side or front of the skull beneath the eye socket and is formed by the temporal process of the zygomatic bone and the zygomatic process of the temporal bone
abnormal cerebellum dentate nucleus morphology any structural anomaly of the largest and most lateral of the deep cerebellum nuclei; it receives axons of Purkinje cells in the lateral cerebellar hemisphere (neocerebellum) and receives its afferents from the premotor cortex and the supplementary motor cortex through the pontocerebellar system, and its efferents project through the superior cerebellar peduncle and is a major source of its fibers
abnormal large intestine placement different location or arrangement of the large intestinal tract
polyphalangy increased number of phalanges in any of the digits
preaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
abnormal eye pigment epithelium morphology
increased testicular teratoma incidence
abnormal alkaline phosphatase activity anomaly in the ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum
decreased incidence of tumors by ionizing radiation induction lower than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays
abnormal renal glucose reabsorption any anomaly in the process in which glucose is taken up from the collecting ducts and proximal and distal loops of the nephron
brain atrophy Partial or complete wasting (loss) of brain tissue that was once present.
abnormal alveolar macrophage morphology any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells
ascending aorta aneurysm a protruding sac formed by the dilation of the wall of the of the part of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch, resulting from a weakening of the vessel wall
decreased circulating atrial natriuretic factor less than the normal concentration of the peptide hormone in the blood that regulates the water-electrolyte balance and acts as a vasodilator
abnormal pineal gland morphology any structural anomaly of the unpaired epithalamic structure that is shaped like a tiny pine cone and located above the posterior commissure near the level of the habenular complex and the sylvian aqueduct; it is both a circumventricular organ and an endocrine organ that secretes melatonin, a serotonin-derived hormone involved in the regulation of circadian rhythms; the pineal parenchyma, consisting of pinealocytes, interstitial (glial-like) cells, phagocytes and capillaries, is arranged into large folliculi separated by septae of connective tissue and blood vessels
abnormal peritoneal vaginal process morphology any structural anomaly of the peritoneal diverticulum in the embryonic lower anterior abdominal wall that traverses the inguinal canal; in the male it forms the tunica vaginalis testis and normally loses its connection with the peritoneal cavity; a persistent processus vaginalis in the female is known as the canal of Nuck
increased osteosarcoma incidence
abnormal cranium morphology any structural anomaly of the bones of the head
abnormal platelet shape A deviation from the normal discoid platelet shape.
enlarged salivary gland increased size of the saliva-secreting glands of the oral cavity
impaired myelopoiesis atypical process of bone marrow cell formation and/or the formation of bone marrow-derived blood cells with the result of fewer of these cells being formed
abnormal thalamus neuron morphology any structural anomaly of the impulse-conducting cells in the thalamus or its parts, a midline paired symmetrical structure between the cerebral cortex and midbrain within the brain that controls the flow of information to the cortex
skeletal muscle atrophy acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation
uterus hyperplasia overdevelopment or increased size, usually due an increased number of cells in the uterus
absent thyrotrophs absence of an anterior pituitary cell that produces thyroid-stimulating hormone
abnormal canal of schlemm morphology any structural anomaly in the vascular structure encircling the anterior chamber of the eye, through which the aqueous humor is returned to the blood circulation
optic neuropathy
enlarged third ventricle increased size of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina
absent adrenal gland absence of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla
malleus hypoplasia underdevelopment or reduced size, usually due to a reduced number of cells, of the largest of the three auditory ossicles, which resembles a club or hammer
bifurcated tongue tongue is split into two halves at the anterior tip; this is normal in some animals such as reptiles
abnormal pericardial cavity morphology any structural anomaly of the anatomical body cavity in which the heart lies; the pericardial cavity forms in the lateral plate mesoderm above the buccopharyngeal membrane, as part of the early intraembryonic coelom, and is initially continuous with the two early pleural cavities
decreased cochlear nerve compound action potential reduction of the combined potentials resulting from activation of the auditory division of the eighth cranial nerve
intrahepatic cholestasis Xref MGI.
brittle teeth fragile and likely to break teeth
abnormal l5 dorsal root ganglion morphology any structural anomaly of the group of nerve cell bodies located on the dorsal spinal roots within the vertebral column at the level of the fifth lumbar vertebra
increased circulating pituitary hormone level greater than expected concentration of any of the pituitary hormones in the blood
increased diameter of radius increased width of the cross-sectional distance that extends from one lateral edge of the radius, through its center and to the opposite lateral edge
increased autoantibody level elevated level of antibodies to self-antigens present in the sera; often indicative of autoimmune disease
aganglionic megacolon A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
partial atrioventricular septal defect
abnormal plant sterol level anomaly in the amount of plant sterols often as a result of hyperabsorbtion of phytosterols and decreased biliary excretion of dietary sterols;commonly ingested phytosterols include beta-sitosterol, campesterol, and stigmasterol
abnormal prostate gland branching morphogenesis anomaly of the prostatic bud to repeatedly divide into lobules during development of the prostate gland
increased anti-single stranded dna antibody level increase in the level of antibodies that recognize single stranded DNA
increased circulating interleukin-10 level increase in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation
abnormal dermal mast cell morphology any structural anomaly of cells located in connective tissue of the dermis that contain numerous basophilic granules and release substances such as heparin and histamine in response to injury or inflammation
increased rhombomere 3 size increased size of the third transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
abnormal pregnancy any anomaly in the process of maintaining a developing embryo or fetus within the female body from conception to birth
decreased cytotoxic t cell cytolysis impaired ability of cytotoxic T cells to induce pathological breakdown of target cells by the destruction of their outer membrane
abnormal gastric parietal cell morphology any structural anomaly of the gastric acid producing epithelial cells that are distributed throughout the length of the gastric gland
increased airway responsiveness
abnormal gastrulation movements failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers
abnormal bulbus cordis morphology any structural anomaly of a transient fetal dilation of the distal (or cranial) heart tube located where the arterial trunk joins the ventral roots of the aortic arches
abnormal bronchioalveolar stem cell morphology any structural anomaly of a respiratory stem cell found at the junction of the terminal (conductive) bronchiole and the respiratory bronchiole, which gives rise to alveolar cell types and Clara cells in response to lung injury
decreased susceptibility to induction of seizure by inducing agent higher threshold to induction of seizure activity response by an agent that normally can induce uncontrolled electrical activity in the brain, producing a physical convulsion and/or minor change in physical behavior
increased systemic arterial blood pressure increased tension of the blood within the systemic arteries
abnormal lens vesicle development malformation or abnormal patterning of the ectodermal invagination that forms opposite the optic cup in the primordium of the lens of the eye
abnormal cerebellum development aberrant or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills
abnormal vascular wound healing anomaly in the repair process of damaged blood vessels after injury
abnormal brachial lymph node morphology any structural anomaly of the lymph nodes located along the brachial vein that receive drainage from most of the free upper limb and send efferent vessels to the central axillary lymph nodes
pup cannibalization the killing and eating of newborn mice by the mother; however, this can be a normal response if the mother does not recognize the pups as her own
abnormal pacinian corpuscle morphology any structural anomaly of any of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin, and which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers; trasmit signals generated by vibrations when grasping an object
abnormal operant conditioning behavior anomaly in the operant conditioning system refers to abnormalities in scheduled controlled behavior; behavioral assessment occurs in an automated chamber where responses are reinforced with food
abnormal trunk neural crest cell migration any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise from the trunk neural crest which lies between the vagal and sacral neural crest; there are two major pathways taken by the migrating trunk NCCs: (1) one group of cells fated to become melanocytes (the melanin-forming pigment cells) migrates dorsolaterally into the ectoderm towards the ventral midline and colonizes the skin and hair follicles; (2) a second group of cells migrates ventrolaterally through the anterior portion of each sclerotome; the cells that remain in the sclerotome form the dorsal root ganglia containing the sensory neurons, whereas those that continue more ventrally form the sympathetic ganglia, chromaffin cells of the adrenal medulla, Schwann (precursor) cells, and the nerve clusters surrounding the aorta
abnormal multipotent stem cell morphology any structural anomaly of the specialized cells that are committed to giving rise to cells with particular functions
increased circulating lactate dehydrogenase level elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of cancer or particular infection types
decreased circulating interleukin-1 beta level reduction in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane
abnormal peyer's patch morphology any structural anomaly of the protruding lymphoid tissue located on the mucosa of the small intestine that is composed of densely packed B cell follicles
pharynx stenosis abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus
increased left ventricle systolic pressure increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries
abnormal systemic vascular resistance anomaly in the normal force opposing blood flow in the peripheral blood vessels
decreased cochlear hair cell number decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve
cyclopia Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.
enlarged fourth ventricle An abnormal dilatation of the fourth cerebral ventricle.
abnormal vitamin d level any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3)
intestinal inflammation
abnormal gustatory papillae taste bud morphology any structural anomaly of the taste buds located on the gustatory papillae, which includes the fungiform, foliate, and circumvallate papillae
abnormal vibrissae reflex animals do not change position in response to stimulation of the whiskers
ovarian follicular cyst a sac filled with fluid that may develop when the structure containing the egg fails to break open at the time of ovulation
pancreas cysts
abnormal extracutaneous pigmentation anomaly in the coloration of organs and tissues excluding the integument due to changes in the amount, shape, or distribution of cells producing pigment
enlarged spinous cells increased size of the immature keratinocytes of the spinous layer of the epidermis
decreased inner cell mass proliferation
increased collagen deposition in the muscles accumulation of collagen within the muscles
abnormal cerebellar hemisphere morphology any structural anomaly of the paired regions of the cerebellum that lie outside and lateral to the central vermis
optic nerve atrophy acquired diminution of the size of the second cranial nerve which is responsible for conveying visual information from the retina to the brain, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
small spleen decreased spleen size
abnormal mesenteric fat pad morphology any structural anomaly of the encapsulated adipose tissue associated with the mesentery
absent nk t cells absence of the distinct lineage of T cells expressing natural killer cell markers and having T cell receptors characterized by the usage of a restricted repertoire of variable region gene segments
abnormal circulating dihydrotestosterone level aberration in the blood concentration of a potent androgenic metabolite of testosterone
decreased cochlear microphonics reduction of the bioelectric potentials produced by the hair cells of the organ of Corti in response to sound
abnormal rostral-caudal axis patterning anomaly in the development or formation of the axis that runs from the head to the tail of the body
abnormal otic pit morphology any structural anomaly of the pair of depressions of thickened otic placode epithelium, that further develops into the otic vesicles
nephron necrosis morphological changes resulting from pathological death of nephron tissue; usually due to irreversible damage
distended jejunum an expansion in the volume of the portion of the small intestine that extends from the duodenum to the ileum
maxilla hypoplasia
gallstones Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.
early reproductive senescence loss of reproductive capacity occurring at an earlier than expected age
increased pp cell number increased number of the polygonal pancreatic polypeptide producing cells in the islets of Langerhans in the pancreas
abnormal glutamate-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of glutamatergic receptors
abnormal leukotriene level abnormal concentration of a family of mediators derived from arachidonic acid which normally stimulate smooth muscle contraction, increase vascular permeability, and may be chemoattractants for inflammatory cells
abnormal olfactory sensory neuron morphology any structural anomaly of the neurons in the olfactory epithelium that are activated by specific odorants
uterine cervix hypoplasia underdevelopment or reduced size of the cervix, usually due to a reduced number of cells
abnormal stomach enteroendocrine cell morphology any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach
leukocyturia presence of white blood cells in the urine
lung situs inversus
esophagus hyperplasia overdevelopment or increased size, usually due an increased number of cells of the esophagus
abnormal alcohol consumption aberrant behavioral-related or physiological-related intake of alcohol into the body
absent stapes Aplasia of the stapes.
abnormal testis weight anomaly in the average weight of the male reproductive glands
increased vascular permeability greater or faster ability of the blood vessels to permit the passage of substances such as fluid, heat, or gases
abnormal blood vessel endothelium morphology any structural anomaly of the thin layer of flat cells that line the blood vessels and form a barrier between circulating blood in the lumen and the rest of the vessel wall
aortic dissection Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
abnormal schwann cell proliferation any anomaly in the ability of a Schwann cell to undergo rapid expansion by cell division
decreased lean body mass reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue
abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood.
decreased small intestinal villus size reduced size of the tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold
abnormal forebrain morphology any structural anomaly of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)
decreased diameter of femur reduced width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge
abnormal central pattern generator function any functional anomaly of the neural networks that produce rhythmic patterned output without sensory input and underlie rhythmic motor patterns
disorganized mitochondrial cristae derangement of the pattern of the inward folds of the mitochondrial inner membrane
abnormal cell physiology any functional anomaly of the vital processes of the cell
fused tracheal cartilage rings fusion of the 16-20 incomplete rings of hyaline cartilage that form the skeleton of the trachea
increased pancreatic acinar cell carcinoma incidence greater than the expected number of an adenocarcinoma arising from cells of the pancreas that secrete digestive enzymes, occurring in a specific population in a given time period
absent corpus luteum absence of the yellow endocrine body formed in the ovary after follicle rupture
adrenal gland hypoplasia Developmental hypoplasia of the adrenal glands.
absent eye pigmentation absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis
abnormal basioccipital bone morphology any structural anomaly of the basilar process of the occipital bone in the base of the cranium, frequently forming a direct part of the occipital in the adult, but usually distinct in the young
abnormal placenta morphology any structural anomaly of the organ of metabolic interchange between fetus and mother, which is partly of embryonic origin and partly of maternal origin
short palate Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).
megacolon A colonic disease that is characterized by an abnormal dilation of the colon.
absent subcutaneous adipose tissue absence of adipose tissue beneath the skin
proteinosis disordered protein formation and distribution, especially manifested by the accumulation of excess or abnormal proteins in tissues
abnormal cerebellar purkinje cell layer any structural anomaly of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells
absent testis cords missing the attachments derived from the primordial seminiferous cords that differentiate into seminiferous tubules in adolescence
increased circulating interleukin-1 alpha level increase in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active
abnormal submandibular gland morphology any structural anomaly of either of the large major salivary glands situated beneath the mandible
abnormal gaba-mediated receptor currents change in the measured amplitude, current density or duration of response to stimulation of GABA receptors
abnormal b cell morphology any structural anomaly of lymphocytes that expresses membrane-bound immunoglobulin complexes in the mature form, and differentiate into antibody-secreting plasma cells and memory cells upon interaction with antigen; B cells are the primary lymphocyte responsible for humoral immunity, and are most effective against extracellular pathogens
increased muscle tumor incidence greater than the expected number of tumors originating in muscle tissue in a given population in a given time period
absent allantois missing fetal membrane which contributes to the formation of the umbilical cord and placenta
abnormal impulsive behavior control any anomaly in the ability of an individual to exert restraint over behavior
absent modiolus absence of the central cone shaped core of spongy bone about which turns the spiral canal
decreased adrenocorticotropin level decreased concentration of adrenocorticotropic hormone
decreased corneal stroma thickness reduced width of the lamellated connective tissue layer of the cornea
enlarged endometrial glands increase in the average size of the simple or branched tubular glands located in the mucous membrane of the uterus
increased pituitary melanotroph tumor incidence greater than the expected number of neoplasms derived from the cells of intermediate pituitary that produce melanocyte stimulating hormone and other peptides from the post-translational processing of pro-opiomelanocortin (POMC)
decreased colliculi size smaller inferior and superior colliculus
abnormal miscarriage rate change in frequency of a natural or accidental termination of a pregnancy at a stage where the embryo or the fetus is incapable of surviving independently of the mother
herniated liver protrusion of any portion of the liver from its normal anatomical position
alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
shallow orbits Reduced depth of the orbits associated with prominent-appearing ocular globes.
increased regulatory t cell number greater number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity
abnormal pulmonary circulation any anomaly in the circulation of blood through the lungs
abnormal anterior lingual gland morphology any structural anomaly of the small glands located near the apex of the tongue on either side of the frenulum
palatal shelf hypoplasia reduced size of the palatal projections from the inner part of the maxillary processes that fuse to form the secondary palate, often due to reduced cell number
abnormal coronary flow rate aberrant rate of blood flow in the blood vessels supplying the heart
abnormal erythrocyte potassium level anomaly in the amount in red blood cells of potassium
abnormal urine insulin level any change in the amount of insulin in the urine
decreased brain size
abnormal pulmonary valve cusp morphology any structural anomaly of the three fibrous triangular components and associated flap of the pulmonary valve
abnormal lacrimal bone morphology any structural anomaly of the irregularly thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla
abnormal retinal rod cell outer segment morphology any structural anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin
abnormal retinal bipolar cell morphology any structural anomaly of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells
abnormal foregut morphology any structural anomaly of the anterior portion of the primitive digestive tube of the embryo that lies cephalic to the junction of the yolk stalk, consists of endodermal tissue, and gives rise to the pharynx, lower respiratory system, esophagus, stomach, duodenum proximal to the biliary tract, liver, pancreas, biliary tract, and gall bladder
decreased lumbar vertebrae number reduced number of the six bony segments of the spine located anterior to the sacral vertebrae and posterior to the thoracic vertebrae
increased interferon-gamma secretion increase in the production or release of the major interferon produced by mitogenically or antigenically stimulated lymphocytes that is involved in immunoregulation
increased lens epithelium apoptosis increase in the number of lens epithelial cells undergoing programmed cell death
abnormal meibomian gland morphology any structural anomaly of the sebaceous glands embedded in the tarsal plate of each eyelid
hyposulfatemia abnormally low concentration of sulfate in the circulating blood
enhanced sensorimotor gating amplification of the process by which inhibitory neural pathways filter multiple stimuli and allow attention to be focused on one stimulus; usually measured by pre-pulse inhibition (PPI)
abnormal rhombomere 5 morphology any structural anomaly of the fifth transiently divided segment of the developing rhombencephalon; rhombomeres are lineage restricted, express different genes from one another, and adopt different developmental fates; rhombomeres are numbered in caudal to rostral order
absent olfactory bulb absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex
decreased b-1b cell number
absent aorticopulmonary septum absence of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta
failure of bone ossification failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
decreased hippocampal commissure size reduced size of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side
absent forelimb absence of the projecting rostral-most paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm or front limb in mammalian species
retinal degeneration
enlarged esophagus
abnormal pollex morphology any structural anomaly of the first or primary digit on the radial side of the hand
decreased stereotypic behavior less frequent incidence of repetitive, invariant, persistent motor patterns that do not appear to be purposeful
narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
abnormal basophil morphology any structural anomaly of the immature or mature forms of a granular leukocyte that in its mature form has an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size; these cells contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation
increased diameter of ulna increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge
sensorineural hearing impairment a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear
decreased germ cell number reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated
abnormal total lung capacity anomaly in the volume of air contained in the lungs at the end of maximal inspiration
abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
abnormal hippocampus pyramidal cell layer
absent deiters cells absence of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities
abnormal vitamin metabolism any anomaly in the chemical reactions and pathways involving a vitamin, including metabolic, catabolic and biosynthetic processes
abnormal brown adipose tissue morphology any structural anomaly of the thermogenic form of adipose tissue that is composed of brown adipocytes
decreased urine phosphate level
absent scala media missing spiral tube within the cochlea that contains the organ of Corti, the neuroepithelial receptor organ for hearing
abnormal internal nares morphology any structural anomaly of the portion of the opening of the nasal cavity into the nasal pharynx
increased reproductive system tumor incidence greater than the expected number of tumors originating in the reproductive system in a given population in a given time period
abnormal circulating interleukin-4 level anomaly in the amount in the blood of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells
absent nephron complete absence of functional filtering units in the kidney
absent malleus processus brevis absence of the short projection extending from the base of the manubrium of the malleus which contacts the upper part of the tympanic membrane where the tympanic cavity makes a deep pocket (epitympanic pocket) surrounding the cartilaginous nodule
hypochromic anemia
decreased pancreatic beta cell number fewer than normal number of the cells of the pancreas that secrete insulin
abnormal golgi tendon organ morphology any structural anomaly of the sensory organ in muscle that is involved in regulating muscle tension
abnormal level of surface class ii molecules deviation from the normal concentration of major histocompatibility complex class II molecules expressed at the cell surface
abnormal spleen red pulp morphology any structural anomaly of the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation
abnormal chromosome pairing during meiosis an anomaly in the highly specific side-by-side association of homologous chromosomes during first prophase of meiosis
failure of chorioallantoic fusion failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
rhombomere fusion the union of one or more rhombomeres into a single structure
decreased cajal-retzius cell number reduced number of the distinct population of large, bipolar cells, distributed in a continuous band along the marginal zone of the cortex extending to the molecular layer of the dentate gyrus
increased susceptibility to weight loss greater decrease in body weight over time when compared to the average decrease in weight in response to dietary modification, fasting or caloric restriction, infection or xenobiotic treatment
increased transitional stage t1 b cell number greater number of a type of transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen; this cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative
increased nervous system tumor incidence greater than the expected number of tumors originating in the nervous system in a given population in a given time period
abnormal nervous system electrophysiology An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.
minimal clonic seizures seizures involving rhythmic face and forelimb clonus including arm movement, and it may include rearing and falling and ventral flexion of the neck; a seizure is scored as minimal when it satisfies the minimal criteria up to or including ventral flexion, but does not include maximal tonic hindlimb extension
abnormal lymph node cortex morphology any structural anomaly in the outer area of the lymph node that has B and T cell domains
absent cochlear ganglion absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain and resides on the cochlear part of the vestibulocochlear nerve (eighth cranial nerve)
abnormal cd8 positive, alpha-beta intraepithelial t cell morphology any structural anomaly of a CD8-positive, alpha-beta T cell of the columnar epithelia such as in the gastrointestinal tract; intraepithelial T cells often have distinct developmental pathways and activation requirements
abnormal induced morbidity/mortality differences from the expected diseased state or death caused by an external intervention
abnormal seminal vesicle weight anomaly in the weight of one or both of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens
delayed heart development late onset of the induction and/or differentiation of the heart
decreased airway resistance reduced opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow
impaired righting response reduced ability or greater amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position
abnormal adrenal chromaffin cell morphology any structural anomaly of the neuroendocrine cells of the medulla of the adrenal gland that are innervated by the splanchnic nerve and that are responsible for epinephrine and norepinephrine secretion
abnormal fertilization anomaly in the process beginning with penetration of the secondary oocyte by the spermatozoon and completed by fusion of the male and female pronuclei
abnormal intestine copper level an anomaly in the amount of copper present in the intestine
increased neuron apoptosis increase in the number of neurons undergoing programmed cell death
corneal scarring
decreased pancreatic islet number reduction in the number of the clusters of hormone-producing cells that are scattered throughout the pancreas
abnormal bile duct morphology any structural anomaly of the channels that secrete bile from the liver to the gall bladder and intestines
retinal pigment epithelium atrophy acquired diminution of the size of the epithelial layer of the retina composed of cells containing pigment granules, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes
abnormal afferent lymphatic vessel morphology any structural anomaly in the lymphatic tubes entering the lymph node
decreased skin tensile strength reduction in the normal maximum tension the skin can withstand without tearing
advanced circadian phase increase in the phase relationship between a temporal synchronizing event (such as light cycle) and a phase reference point of an animal (such as activity onset)
abnormal miniature excitatory postsynaptic currents defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse
dilated lateral ventricles the luminal space of the lateral ventricles is increased in volume or area, usually with an increase in contained fluid, in the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle
thin stria vasc