A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. [HPO:probinson]


Delayed maturation of the end part of the elbow bone

A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. [HPO:probinson]


Abnormality of end part of the elbow bone

Abnormality of the epiphyses of the elbow


Irregular articular surfaces of the elbow joints


Abnormality of the joint spaces of the elbow


Increased bone density in shaft of long bone in upper arm


Periosteal new bone of humeral diaphysis


Ground glass opacity of humeral diaphysis


Cortical thickening of humeral diaphysis


Cortical irregularity of humeral diaphysis

An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus. [HPO:curators]


Abnormality of shaft of long bone in upper arm

An anomaly of the humeral diaphysis. [HPO:probinson]


Speckled calcification in metaphysis of long bone of upper arm

Stippled calcification of humeral metaphysis


Square metaphysis of long bone of upper arm


Spurred metaphysis of long bone of upper arm


Laterally sloping metaphysis of long bone of upper arm


Sloping metaphysis of long bone of upper arm


Sclerotic humeral metaphysis with longitudinal striations


Stiffening of wide portion of long bone of upper arm

Hardening of wide portion of long bone of upper arm


Pointed wide portion of long bone of upper arm


Irregular bone maturation of the wide portion of the long bone in upper arm

Irregular ossification of humeral metaphyses


Cortical subperiosteal resorption of humeral metaphyses


Abnormality of the wide portion of the long bone in upper arm


Abnormality of the humeral epiphyseal plate


Stippled calcification of the humeral epiphyses


Small end part of long bone in upper arm


Round end part of long bone in upper arm


Large end part of long bone in upper arm


Irregular ossification of the humeral epiphyses


Irregular end part of long bone in upper arm


Flattened end part of long bone in upper arm


Accelerated maturation of end part of long bone in upper arm

Advanced ossification of the humeral epiphysis

Ossification of the humeral epiphysis at an earlier age than normal. [HPO:probinson]


Destruction of an area of humerus bone due to a disease process, such as cancer. []


Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. [HPO:probinson]


Clefting affecting the humerus. [HPO:curators]


Increased bone density in central part of long bone of upper limbs

An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. [HPO:probinson]


Cortical diaphyseal thickening of the upper limbs


Cortical diaphyseal irregularity of the upper limbs


Increased bone density in wide portion of the upper limb bones

Sclerosis of metaphyses of the upper limbs


Sclerosis with transverse striations in metaphyses of the upper limbs


Normal density transverse bands in metaphyses of the upper limbs


Lytic defects in metaphyses of the upper limbs


Cupped wide portion of the upper limb bone


Delayed upper limb epiphyseal ossification

A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. [HPO:probinson]


Calcification of the soft-tissue around the shoulders

Soft-tissue ossification around the shoulders

Formation of calcified tissue in the soft tissues surrounding the shoulder. [HPO:probinson]


Muscle abnormality related to mitochondrial dysfunction


Type 1 and type 2 muscle fibre minicore regions

Type 1 and type 2 muscle fiber minicore regions

Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. [HPO:probinson]


A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). [HPO:probinson]


Congenital underdevelopment of lymph vessels. [HPO:probinson]


Type 1 fibres relatively smaller than type 2 fibres

Type 1 fibers relatively smaller than type 2 fibers

The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. [HPO:curators]


Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. [HPO:probinson]


An abnormal, increased fatiguability of the musculature. [HPO:curators]


Genetic anticipation with paternal anticipation bias

A type of genetic anticipation observed predominantly upon transmission from affected males. [HPO:probinson]


Myotonia that occurs after a period of rest and decreases with continuing exercise. [HPO:probinson, PMID:7678441]


Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). [HPO:probinson]


Absent end part of the outermost bone of the little finger

Absent end part of the outermost bone of the pinkie finger

Absent end part of the outermost bone of the pinky finger

Absent epiphysis of the distal phalanx of the 5th finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. [HPO:curators]


Lack of strength of the proximal musculature occurring late in the clinical course. [HPO:curators]


Amyotrophy of the musculature of the pelvis

Muscular atrophy affecting the muscles of the pelvis. [HPO:curators]


Reduced dihydropyrimidine dehydrogenase level

An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. [HPO:gcarletti]


Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. [HPO:probinson, PMID:4195824]


Abnormality of glycoside metabolism. [HPO:probinson]


High urine lactic acid levels
Increased urine lactate

An increased concentration of lactic acid in the urine. [HPO:probinson]


Electron transfer flavoprotein-ubiquinone oxidoreductase defect

A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. [PMID:2989828]


Reduced 4-Hydroxyphenylpyruvate dioxygenase level

An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level. [HPO:curators]


Signs and symptoms begin before 15 years of age

Onset of signs or symptoms of disease between the age of 5 and 15 years. [HPO:probinson]


If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. [HPO:probinson]


Foam cells with lamellar inclusion bodies

The presence of foam cells that contain lamellar inclusion bodies. [HPO:probinson]


Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. [HPO:probinson, PMID:6960353]


A type of adult onset with onset of symptoms after the age of 60 years. [HPO:probinson]


High intracellular Na
Increased intracellular Na+ levels

An abnormally increased sodium concentration in the cytosol. [HPO:gcarletti]


A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. [HPO:probinson]


Rhabdomyolysis induced by a viral infection. [HPO:probinson]


Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). [HPO:curators]


Subsarcolemmal accumulations of abnormally shaped mitochondria

An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. [HPO:probinson]


Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. [HPO:probinson]


Increased serum iduronate sulfatase level

An increased level of iduronate-2-sulfatase activity in the blood. [HPO:probinson]


An abnormal reduction in xanthine dehydrogenase level. [HPO:probinson]


Reduced acetaldehyde dehydrogenase level

Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism. [PMID:17718394]


An increased concentration of ornithine in the urine. [HPO:probinson]


Elevated circulating glutaric acid concentration

An increased concentration of glutaric acid in the blood. [HPO:gcarletti]


Parathormone-independent increased renal tubular Ca reabsorption

Parathormone-independent increased renal tubular Ca2+ reabsorption

Parathormone-independent increased renal tubular calcium reabsorption

An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. [HPO:probinson, PMID:23802516]


Reduced ration of renal Ca clearance to creatinine clearance

Reduced ration of renal Ca2+ to creatinine clearance

Reduced ration of kidney calcium clearance to creatinine clearance

Reduced ratio of renal calcium clearance to creatinine clearance

A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. [HPO:probinson]


An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism. []


An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. [HPO:probinson]


Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. [HPO:probinson]


Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. [HPO:probinson]


Total immunoglobulin A deficiency
Decreased total IgA in blood

Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). [HPO:probinson]


A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. [PMID:11508831]


Increased rate of premature chromosome condensation

An increased rate of premature chromosome condensation. [HPO:probinson]


Evidence of chronic denervation on electromyography. [HPO:probinson]


A reduction in the size of nerve terminals. [HPO:probinson]


Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. [HPO:probinson]


An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. [HPO:probinson]


Abnormal synaptic transmission at the neuromuscular junction

Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. [HPO:probinson]


Atrophic changes of axons of the peripheral nervous system. [HPO:probinson]


Abnormality of the femoral head
Abnormal head of thigh bone

An abnormality of the femoral head. [HPO:probinson]


Abnormal neck of thigh bone
Abnormality of the femoral neck

An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). [HPO:probinson]


Abnormality of the femoral neck or head region


An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. [HPO:probinson]


Endopolyploidy on chromosome studies of bone marrow

An increase in the number of chromosome sets per cell in bone marrow cells. [HPO:probinson]


Impaired lymphocyte transformation with phytohemagglutinin

Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. [HPO:probinson]


An increased concentration of noradrenaline in the urine. [HPO:probinson]


Focal necrosis of right ventricular muscle cells


An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. [HPO:probinson]


Elevated circulating catecholamine level

An abnormal increase in catecholamine concentration in the blood. [HPO:probinson]


Any anomaly in the composite material or the layered arrangement of the bony skeleton. [HPO:probinson]


Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Mitochondrial propionyl-CoA carboxylase defect


A increased concentration of arginine in the urine. [HPO:probinson, PMID:18901181, PMID:20240447]


Reduced orotidine 5-prime phosphate decarboxylase level

An abnormal decrease in orotidine 5'-phosphate decarboxylase level. [HPO:gcarletti]


Increased phosphoribosyl pyrophosphate synthetase activity

Increased phosphoribosylpyrophosphate synthetase level

Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. [PMID:4200723]


Deficient excision of UV-induced pyrimidine dimers in DNA


A decreased rate of pyruvate carboxylase activity. [HPO:probinson]


Intracellular accumulation of autofluorescent lipopigment storage material

The intracellular accumulation of autofluorescent storage material. [HPO:probinson, PMID:16455164]


An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). []


Hypothalamic gonadotropin-releasing hormone deficiency


T-wave inversion in the right precordial leads


Abnormality of the spinocerebellar tracts

An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. [HPO:probinson]


An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. [DDD:fmunitoni, HPO:jbaets]


Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. [HPO:probinson]


Abnormal circulating lipid concentration

Any deviation from the normal concentration of a lipid in the blood circulation. [HPO:probinson]


Increased cortisol production
Increased circulating cortisol level

Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. [DDD:spark]


Abnormality of circulating hormone level

Abnormal circulating hormone concentration

An abnormal concentration of a hormone in the blood. [HPO:probinson]


Abnormality of serum amino acid levels
Abnormality of serum amino acid level

Abnormal circulating amino acid concentration

The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. [HPO:curators]


An abnormality of the composition of urine or the levels of its components. [HPO:probinson]


Abnormality of cholesterol metabolism
Abnormal cholesterol homeostasis

Any deviation from the normal concentration of cholesterol in the blood circulation. []

Abnormal circulating cholesterol concentration


Trophic changes occurring in a limb. [HPO:probinson]


An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. [HPO:probinson]


An abnormality of the ulna bone of the forearm. [HPO:probinson]


Abnormality of the shankbone
Abnormality of the shinbone

Abnormality of the tibia (shinbone). [HPO:curators]


An anomaly of the calf bone (fibula), one of the two bones of the calf. [HPO:probinson]


Absent/underdeveloped central nervous system tissue

Aplasia/Hypoplasia involving the central nervous system

Absence or underdevelopment of tissue in the central nervous system. [HPO:probinson]


An abnormality of the lower arm. [HPO:probinson]


Congenital absence of a part of the vermis of cerebellum. [HPO:probinson]


Leydig cell insensitivity to gonadotropin


An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. [HPO:probinson]


An abnormality of chromosome segregation. [HPO:probinson]


Recurrent bouts of sudden, severe apnea that may be life-threatening. [HPO:probinson]


Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. [HPO:probinson]


Recurrent Burkholderia cepacia infections

Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. [HPO:probinson]


An abnormality of the radius. [HPO:probinson]


An abnormality of the knee joint or surrounding structures. [HPO:probinson]


Abnormality of the trachea
Abnormal trachea morphology

A structural anomaly of the trachea. [HPO:probinson]


Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints). [HPO:probinson, PMID:29246349]


Abnormality of cartilage morphology
Abnormal shape of cartilage

Any morphological abnormality of cartilage. [HPO:probinson]


Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. [HPO:probinson]


Recurrent Serratia marcescens infections

Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. [HPO:probinson]


Underdevelopment of the lymph nodes. [HPO:probinson]


An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. [HPO:probinson]


Abnormality of bone mineralization of skull

Abnormality of bone calcification of calvarium

Abnormality of bone calcification of skull

Abnormality of bone mineralization of calvarium

An abnormality of the process of ossification of the skull. [HPO:probinson]


Any abnormality of the foramen magnum. [HPO:probinson]


Abnormality of cranial base
Abnormality of the skull base

An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. [HPO:curators]


Abnormality of sinus frontalis
Abnormality of the forehead sinus

An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. [ORCID:0000-0001-5889-4463]


Abnormality of the skull cap
Abnormality of cranial vault
Abnormality of calvarium
Abnormality of the skullcap

Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. [HPO:probinson]


Abnormality of cranial bone morphology
Abnormally shaped skull
Abnormality of the shape of calvarium
Abnormal cranium morphology
Abnormality of the shape of cranium

The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. [DDD:awilkie, HPO:probinson]


Hypertension associated with pheochromocytoma

A type of hypertension associated with pheochromocytoma. [HPO:probinson]


Right aortic arch with mirror image branching

The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. [DDD:dbrown, HPO:sdoelken]


Paresis of extensor muscles of the big toe


An abnormality of the peritoneum. [HPO:probinson]


An abnormality of the stomach. [HPO:probinson]


Developmental dysplasia of the hair. [HPO:probinson]


Any structural abnormality of the cerebral cortex. [HPO:probinson, PMID:31373394]


Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. [HPO:probinson]


Calcification of the small brain vessels

Deposition of calcium salts within small blood vessels of the brain. [HPO:probinson]


Morphological abnormality of the corticospinal tract

Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. [HPO:probinson]


Eye of the tiger anomaly of globus pallidus

The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. [HPO:probinson, PMID:11110959, PMID:19881070]


An abnormality of the globus pallidus. [HPO:probinson]


Any structural anomaly that affects the motor neuron. []


Any structural abnormality of the caudate nucleus. [HPO:probinson]


An anomaly of the vermis of cerebellum. [HPO:probinson]


Attacks of disabling daytime drowsiness and low alertness. [HPO:probinson]


Abnormality of the autonomic nervous system

An abnormality of the autonomic nervous system. [HPO:probinson]


Any abnormality of the large intestine. [HPO:probinson]


An abnormality of the duodenum, i.e., the first section of the small intestine. [HPO:probinson]


An abnormality of the small intestine. [HPO:probinson]


Loss of scalp hair at an earlier than normal age. [HPO:probinson]


Defective development of the vermis of cerebellum. [HPO:probinson]


Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. [HPO:sdoelken]


An abnormality of the spinal cord (myelon). [HPO:probinson]


Any structural anomaly that affects the upper motor neuron. []


Any structural abnormality of the cerebral ventricles. [HPO:probinson]


An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. [HPO:probinson]


Abnormality of the upper respiratory tract

An abnormality of the upper respiratory tract. [HPO:probinson]


Increased neuronal autofluorescent lipopigment

Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [HPO:probinson, PMID:11406682]


Atrophy of the cortex of the kidney. [HPO:probinson]


Abnormal blood clot
Abnormal blood clotting

Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). [HPO:probinson]


An abnormality that involves the tubules and interstitial tissue of the kidney. [HPO:probinson]


Abnormality glomerular mesangium morphology

Abnormal glomerular mesangium morphology

An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. [HPO:probinson, PMID:19470685, PMID:20828589]


Anomaly of scalp
Abnormality of the scalp

Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. [HPO:probinson]


Acroosteolysis of distal phalanges of feet

Acroosteolysis of distal phalanges (feet)


Spontaneous detachment of a foot from the body. [HPO:probinson]


Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). [HPO:probinson]


Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). [HPO:probinson]


Congenital occlusion of a tube in the genital tract. [HPO:probinson]


An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. [HPO:probinson]


An abnormality of the spleen. [HPO:probinson]


A structural anomaly of the nasopharynx. []


An abnormality of the pancreas. [HPO:probinson]


An abnormality of a cardiac ventricle. [HPO:probinson]


Any structural anomaly of the tricuspid valve. [HPO:probinson]


An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. [HPO:probinson]


Abnormal aorta morphology
Abnormality of the aorta

An abnormality of the aorta. [HPO:probinson, PMID:24910511]


A structural anomaly of the muscle layer of the heart wall. []


Any structural anomaly of the mitral valve. [HPO:probinson]


Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. [HPO:probinson]


An abnormality of the integument, which consists of the skin and the superficial fascia. [HPO:probinson]


A morphological anomaly of the rib cage. [HPO:probinson]


Absent/underdeveloped pelvis muscles
Absent/small pelvis muscles

Aplasia/Hypoplasia of the musculature of the pelvis


Abnormality of the musculature of the pelvis

Abnormal morphology of the pelvis musculature


Absent/underdeveloped upper arm muscles
Absent/small upper arm muscles

Aplasia/Hypoplasia involving the musculature of the upper arm

Absence or underdevelopment of the muscles of the upper arm. [HPO:curators]


Absent/underdeveloped upper limb muscles

Aplasia/Hypoplasia involving the musculature of the upper limbs

Absence or underdevelopment of the musculature of the upper limbs. [HPO:curators]


Wasting of shoulder muscles
Shoulder muscle degeneration

Amyotrophy involving the shoulder musculature


Absent/small shoulder muscles
Absent/underdeveloped shoulder muscles

Aplasia/Hypoplasia involving the shoulder musculature

Absence or underdevelopment of the muscles of the shoulder. [HPO:curators]


Absent/underdeveloped skeletal muscles
Absent/small skeletal muscles

Aplasia/Hypoplasia involving the skeletal musculature

Absence or underdevelopment of the musculature. [HPO:curators]


Syndactyly with fusion of toes one to three. [HPO:sdoelken]


Abnormality of the musculature of the upper arm


Autosomal dominant contiguous gene syndrome


Abnormality of the musculature of the upper limbs


Abnormality of the hip-girdle musculature


Autosomal dominant somatic cell mutation

Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body. []


Abnormality of the musculature of the thigh


Abnormality of the musculature of the lower limbs


An anomaly of the musculature of foot. [HPO:probinson]


Abnormality of the musculature of the hand


A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. [HPO:probinson]


Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. [HPO:probinson]


Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. [HPO:probinson]


Photically induced myoclonic seizure
Photomyoclonic seizures
Photomyoclonic seizure

Generalised myoclonic seizure provoked by flashing or flickering light. [PMID:28276060]


EEG with irregular generalised spike and wave complexes

EEG with irregular generalized spike and wave complexes

EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. [HPO:jalbers]


Shortened short tubular bones of the hand

Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. [HPO:probinson]


An abnormal structure of the tip (end) of a finger. []


Abnormality of prenatal development or birth

An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. [HPO:probinson]


Abnormalities of placenta or umbilical cord

An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). [HPO:curators]


An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. [HPO:probinson]


Any abnormality of the size or morphology of the cornea. [HPO:curators]


Any structural abnormality of the fundus of the eye. []


Intermittent icterus
Intermittent yellowing of skin
Intermittent yellow skin

Jaundice that is sometimes present, sometimes not. [HPO:curators]


An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. [HPO:probinson]


A type of pallor that is secondary to the presence of anemia. [HPO:probinson]


Dermatological manifestations of systemic disorders


Abnormality of fatty tissue below the skin


Abnormality of the wide portion of a long bone

An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. [HPO:probinson]


Posterior fossa cyst at the fourth ventricle


Elevated imprint of occipital bone over the transverse sinuses

Thinning and bulging of posterior skull bones over the transverse sinuses

Elevated imprint of posterior skull bones over the transverse sinuses

Thinning and bulging of occipital bone over the transverse sinuses

Elevated imprint of the transverse sinuses


The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. [HPO:probinson]


Abnormality of the hypothalamus-pituitary axis

Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. [DDD:spark]


A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. [HPO:probinson]


An abnormality of the parathyroid gland. [HPO:curators]


An abnormality of the endocrine system. [HPO:probinson]


An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). [HPO:probinson]


An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. [HPO:probinson]


The presence of immunoglobulin A deposits in the glomerulus. [Eurenomics:ewuehl]


Any abnormality of the scapula, also known as the shoulder blade. [HPO:probinson]


An abnormality of the breast. [HPO:probinson]


Progressive deterioration of peripheral axons. [HPO:probinson]


Abnormal peripheral nervous system structure

Abnormal peripheral nervous system morphology

A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). [HPO:probinson]


An abnormality of the Incisor tooth. [HPO:probinson]


Abnormal amplitude of pattern reversal visual evoked potentials


An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. [DDD:ncarter]


Any structural abnormality of the choroid. [HPO:probinson]


Abnormality of the region around the eye socket

An abnormality of the region situated around the orbit of the eye. [HPO:probinson]


An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. [HPO:probinson]


Abnormality of hairline at front of head

An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. [HPO:probinson]


Abnormality of the outer white part of eyeball

An abnormality of the sclera. [HPO:probinson]


An abnormality of the uvea, the vascular layer of the eyeball. [HPO:probinson]


An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. [HPO:probinson]


An abnormality of the choroid and retina. [HPO:probinson]


An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. [HPO:probinson]


Vision issue
Abnormality of vision
Abnormality of sight

Abnormality of eyesight (visual perception). [HPO:probinson]


An abnormality of the conjunctiva. [HPO:curators]


Globe retraction and deviation on abduction


An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. [HPO:probinson]


Increased adipose tissue around the neck

An increased amount of subcutaneous fat tissue around the neck. [HPO:probinson]


Malformation of the nasal tip
Deformity of the nasal tip
Abnormality of tip of nose
Abnormality of the nasal tip
Deformity of tip of nose
Malformation of tip of nose

An abnormality of the nasal tip. [HPO:probinson, PMID:19152422]


Telangiectasia of mucous membrane of nose

Telangiectasia of the nasal mucosa. [HPO:probinson]


Abnormality of mucous membrane of nose
Abnormality of the nasal mucosa
Abnormality of nasal mucous membrane
Abnormality of mucosa of nose


Abnormality of the choanae (the posterior nasal apertures). [HPO:probinson]


Malformation of the periauricular region

Abnormality of the region around the ear


Incomplete partition of the cochlea type II

IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. [HPO:probinson, PMID:21849370]


An abnormality of the cochlea. [HPO:probinson]


An abnormality of the sensory perception of sound. [HPO:probinson]


Malformation of the upper jaw bones
Anomaly of the maxilla
Deformity of the upper jaw bones
Deformity of the maxilla
Abnormality of the upper jaw bone
Abnormality of the upper jaw bones
Malformation of the maxilla

An abnormality of the Maxilla (upper jaw bone). [HPO:probinson]


Malformation of the orbital region of the face

Anomaly of the orbital region of the face

Abnormality of the region around the eyes

Deformity of the orbital region of the face


Malformation of the chin
Anomaly of the chin
Abnormality of the chin
Abnormality of the menton
Deformity of the chin

An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. [HPO:probinson, PMID:19125436]


Abnormality of facial muscles
Facial muscle issue

An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). [HPO:probinson]


Abnormality of facial fat
Deformity of facial adipose tissue
Malformation of facial adipose tissue


Abnormality of the frontal region of the face

An anomaly of the forehead. [HPO:probinson]


Increased volume of facial adipose tissue

Increased amount of facial adipose tissue

An increased amount of subcutaneous fat tissue in the face. [HPO:probinson]


Malformation of the mandible
Deformity of the mandible
Abnormality of the mandible
Malformation of the lower jaw bone
Deformity of the lower jaw bone
Abnormality of the lower jaw bone
Anomaly of the mandible

Any abnormality of the mandible, the bone of the lower jaw. [HPO:probinson]


Abnormality of the face
Abnormality of the physiognomy
Abnormality of the countenance
Facial abnormality
Anomaly of face
Abnormality of the visage
Facial anomaly
Abnormal face

An abnormality of the face. [HPO:probinson]


Abnormality of mastoid process of temporal bone

An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. [HPO:pnrobinson]


Abnormality of the sinuses of the head
Abnormality of the paranasal sinuses
Abnormality of the sinuses

Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. [HPO:probinson]


Abnormality of cranium size
Abnormality of head size
Abnormality of skull size

Any abnormality of the size of the skull. [HPO:curators]


An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. [HPO:curators]


Abnormality of the fontanelles or cranial sutures

Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). [HPO:probinson, PMID:12825844]


Oral cavity teleangiectasia
Angioectasias of the mouth
Angioectasias of the oral cavity

Presence of telangiectases in the oral cavity. [HPO:probinson]


Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. [HPO:probinson]


Abnormality of parotid gland
Anomaly of the parotid gland

Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. [HPO:curators]


Abnormality of lingual frenum
Abnormality of oral frenula
Abnormality of frenum of tongue
Abnormality of oral frenum

An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. [HPO:probinson, PMID:23633765]


Abnormality of lingual movement
Movement abnormality of the tongue


Deformity of the lower lip
Malformation of the lower lip
Anomaly of the lower lip
Abnormality of lower lip

An abnormality of the lower lip. [HPO:probinson]


Anomaly of the upper lip
Malformation of the upper lip
Deformity of the upper lip
Abnormality of upper lip

An abnormality of the upper lip. [HPO:probinson]


Abnormality of the uvula
Abnormality of palatine uvula

Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. [HPO:probinson]


Severe gum disease
Severe pyorrhea
Severe periodontal disease

A severe form of periodontitis. [HPO:probinson]


Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. [HPO:probinson]


An abnormality of the ovulation cycle. [HPO:probinson, PMID:23281358]


Morphologic abnormality of the renal glomerulus

Abnormality of renal glomerulus morphology

A structural anomaly of the glomerulus. [Eurenomics:ewuehl, PMID:18184729]


Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. [HPO:probinson]


Ambiguous genitalia in an individual with XX genetic gender. [HPO:probinson]


An anomaly of the labia, the externally visible portions of the vulva. [HPO:probinson]


An abnormality of the clitoris. [HPO:probinson]


Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. [HPO:probinson]


Abnormality of the male external sex organ. []


An abnormality of male external genitalia. [HPO:probinson]


Functional abnormality of male internal genitalia


An abnormality of the male internal genitalia. [HPO:probinson]


Abnormality of female internal genitalia

Abnormal morphology of female internal genitalia

An abnormality of the female internal genitalia. [HPO:probinson]


Deviation from the norm of height with respect to that which is expected according to age and gender norms. [HPO:probinson]


Obtuse angle of mandible
High mandibular plane angle

Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. [HPO:probinson]


Status post hematopoietic stem cell transplantation

A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor. [PMID:24198516]

Status post haematopoietic stem cell transplantation


Ulnar deviation of the hand or of fingers of the hand


Cerebral visual impairment
Cortical blindness

A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. [HPO:probinson, PMID:28082927]


Immunoglobulin deficiency
Decreased antibody level in blood
Reduced immunoglobulin levels
Decreased immunoglobulin level
Decreased serum immunoglobulin

An abnormally decreased level of immunoglobulin in blood. [HPO:probinson]


Atrophy of the choroid and retinal layers of the fundus. [HPO:probinson, PMID:20224472]


The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by a virus called HPV. The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have had many children, use birth control pills for a long time, or have HIV infection.

Cervical cancer may not cause any symptoms at first. Later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test to examine cells from the cervix. You may also have an HPV test. If your results are abnormal, you may need a biopsy or other tests. By getting regular screenings, you can find and treat any problems before they turn into cancer.

Treatment may include surgery, radiation therapy, chemotherapy, or a combination. The choice of treatment depends on the size of the tumor, whether the cancer has spread and whether you would like to become pregnant someday.

Vaccines can protect against several types of HPV, including some that can cause cancer.

NIH: National Cancer Institute


Increased methionine in blood
Methioninemia

An increased concentration of methionine in the blood. [HPO:gcarletti]


Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. [HPO:probinson]


Night blindness, congenital stationary, complete

Complete congenital stationary night blindness


Sharp pointed superior portion of the ear, with variable overfolding of the helix. [PMID:19152421]


Retinal dystrophy with early macular involvement


Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. [PMID:22847594]


Pseudocroup
Spasmodic croup
Viral croup
Croup
Laryngitis

Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure. [LMU:mgriese, PMID:31680234]


Ulceration of the AORTA by an ATHEROSCLEROTIC PLAQUE by penetrating through and disrupting the internal elastic lamina of the TUNICA INTIMA.


An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall. []


Abnormality of cardiovascular system morphology

Any structural anomaly of the heart and great vessels. []


Birth when a fetus is between 28 weeks and less than 32 weeks gestational age.


Systemic lupus erythematosus nephritis, with 90% or more of glomeruli globally sclerosed without residual activity. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Systemic lupus erythematosus nephritis that appears normal under light microscopy, but with evidence of immune deposits by immunofluorescence. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Systemic lupus erythematosus nephritis, with active or inactive diffuse, segmental or global endo- or extracapillary glomerulonephritis involving greater than or equal to 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Systemic lupus erythematosus nephritis exhibiting mesangial hypercellularity or mesangial expansion by light microscopy, with mesangial immune deposits. Isolated subepithelial or subendothelial deposits may be visible by immunofluorescence or electron microscopy, but not by light microscopy. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Systemic lupus erythematosus nephritis with active of inactive focal, segmental or global endo- or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.)


Birth when a fetus is between 32 weeks and less than 37 weeks gestational age.


A process characterized by the degeneration of mesangial cells and the dissolution of the mesangial matrix in the glomerulus of the kidney, in response to injury or disease.


Membranous nephritis associated with systemic lupus erythematosus.


Persistent preoccupation with parts of objects

A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car. [ORCID:0000-0002-4422-1708, PMID:25030967]


Inappropriate use of words that have no phonological or semantic similarity to the intended word. [ORCID:0000-0002-4422-1708, PMID:1864825]


A type of strabismus in which the visual axis of one eye is lower than that of the other. [ORCID:0000-0003-0986-4123]


A type of strabismus in which the visual axis of one eye is higher than that of the other. [ORCID:0000-0003-0986-4123]


Broad head shape
Broad skull shape
Wide head shape
Wide cranium shape


Thickened facial skin with coarse facial features


Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. [HPO:probinson]


Asymmetry of the posterior skull
Asymmetry of the posterior head


Delayed closure of the soft spot on the skull


Anomaly of the hypophysial fossa
Anomaly of the pituitary fossa
Abnormality of the pituitary fossa


Chorioretinal atrophy along the retinal veins. [HPO:probinson, PMID:15623792]


Premaxillary bone retrusion
Primary palate bone retrusion


The presence of an abnormally large pelvis. [HPO:probinson]


Increased serum testosterone levels
High serum testosterone level
High serum testosterone levels

An elevated circulating testosterone level in the blood. []


Abnormal circulating gonadotropin concentration

An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [HPO:probinson]


Decreased circulating gonadotropin level

Decreased circulating gonadotropin concentration

A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). [HPO:probinson]


Decreased circulating follicle stimulating hormone level

Decreased circulating follicle stimulating hormone concentration

A reduction of the circulating level of follicle-stimulating hormone (FSH). [HPO:probinson]


Decreased circulating luteinising hormone level

Decreased circulating luteinizing hormone level

A reduction in the circulating level of luteinizing hormone (LH). [HPO:probinson]


Abnormal circulating follicle-stimulating hormone level

Abnormal circulating follicle-stimulating hormone concentration

An anomaly of the circulating level of follicle-stimulating hormone (FSH). [HPO:probinson]


An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [HPO:probinson]


Increased circulating androgen concentration

An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [HPO:probinson]


Decreased circulating androgen concentration

A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. [HPO:probinson]


A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. []


Abnormal serum insulin-like growth factor 1 level

An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. [HPO:probinson]


Decreased serum insulin-like growth factor 1

A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. [HPO:probinson]


Abnormal levels of interferon in the blood. [PMID:28487810]


Abnormal levels of interferon gamma measured in the blood circulation. [PMID:11335769]


An elevation in the concentration of interferon gamma measured in the blood circulation. [HPO:probinson, PMID:11335769]


Abnormal circulating eicosanoid concentration

Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). [HPO:probinson]


A reduction in the level of carnitine in muscle tissue. [HPO:probinson, PMID:8174281, PMID:8472351]


Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section. [HPO:probinson]


Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. [HPO:probinson]


The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. [HPO:probinson, PMID:23962177]


Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. []


An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. [HPO:probinson, PMID:25480037, PMID:6540680]


Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. [HPO:probinson]


A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. [HPO:probinson]


An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. [HPO:probinson]


A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen. [HPO:probinson]


A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). [HPO:probinson, PMID:15771579]


A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). [HPO:probinson]


An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). [HPO:probinson]


Abnormal proportion of CD19+/CD21low B cells

A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). [HPO:probinson]


Increased proportion of CD19+/CD21low B cells

Increased proportion of immature B cells

An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). [HPO:probinson]


Decreased proportion of CD19+/CD21low B cells

Decreased proportion of immature B cells

A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). [HPO:probinson]


Abnormal proportion of CD19+CD38+IgM+ cells

Abnormal proportion of transitional B cells

A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. [HPO:probinson, PMID:23731328]


Decreased proportion of CD19+CD38+IgM+ cells

Decreased proportion of transitional B cells

A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. [HPO:probinson]


Increased proportion of CD19+CD38+IgM+ cells

Increased proportion of transitional B cells

An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. [HPO:probinson]


Abnormal proportion of marginal zone B cells

A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. [HPO:probinson, PMID:9802980]


Decreased proportion of marginal zone B cells

A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. [PMID:9802980]


Increased proportion of marginal zone B cells

An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. [HPO:probinson, PMID:9802980]


Abnormal proportion of CD19+CD27+IgD- cells

Abnormal proportion of class-switched memory B cells

A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. [HPO:probinson, PMID:19342988]


Decreased proportion of CD19+CD27+IgD- cells

Decreased proportion of class-switched memory B cells

A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. [HPO:probinson]


Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. [HPO:probinson]


Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. [HPO:probinson, PMID:19450911]


Abnormal platelet dense granule secretion

Abnormal release of dense granules from platelets. [HPO:probinson]


Abnormal platelet ATP dense granule secretion

Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). []


Abnormal platelet alpha granule secretion

Abnormal release of alpha granule contents from platelets. [HPO:probinson]


Abnormal release of lysosome contents from platelets. [HPO:probinson]


Abnormal platelet dense granule ATP/ADP ratio

Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. [HPO:probinson]


An adenocarcinoma that arises from the jejunum.


A malignant epithelial tumor with a glandular organization that originates in the ileum. [HPO:probinson]


A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance. []


A cyst of the ovary that exhibits deposition of calcium salts. [HPO:probinson]


A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. [HPO:probinson]


A melanoma that originates in the anal margin. [HPO:probinson]


A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. [HPO:probinson, PMID:19946589]


Abnormality of pattern visual evoked potentials


Abnormality of pattern onset/offset visual evoked potentials


Abnormal amplitude of pattern onset/offset VEP

Abnormal amplitude of pattern onset/offset visual evoked potentials


Abnormal timing of pattern onset/offset visual evoked potentials


Abnormal timing of pattern reversal visual evoked potentials


Abnormal timing of flash visual evoked potentials


Abnormal amplitude of flash visual evoked potentials


Crossed asymmetry of flash visual evoked potentials

Asymmetrical distribution of flash visual evoked potentials


Crossed asymmetry of pattern reversal visual evoked potentials

Asymmetrical distribution of pattern reversal visual evoked potentials


non-detectable photopic ERG
Absent photopic (cone) responses on ERG

No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. [PMID:25502644]


An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. [HPO:probinson, PMID:17522779, PMID:3076152]


Abnormal dark-adapted bright flash electroretinogram


Abnormal dark-adapted dim flash electroretinogram


Abnormal light-adapted single flash electroretinogram


Abnormal light-adapted 30Hz flicker electroretinogram

Abnormal light-adapted flicker electroretinogram


Abnormal timing of dark-adapted dim flash electroretinogram


Abnormal amplitude of dark-adapted dim flash electroretinogram


Abnormal timing of dark-adapted bright flash electroretinogram


Abnormal amplitude of dark-adapted bright flash electroretinogram


Abnormal amplitude of light-adapted flicker electroretinogram


Abnormal timing of light-adapted flicker electroretinogram


Abnormal amplitude of light-adapted single flash electroretinogram


Abnormal timing of light-adapted single flash electroretinogram


Reduced amplitude of dark-adapted bright flash electroretinogram a-wave

An abnormal reduction in the amplitude of the a-wave. []


Supernormal dark-adapted bright flash electroretinogram b-wave


Abnormal amplitude of pattern electroretinogram


Abnormal timing of pattern electroretinogram


Abnormal P50/N95 ratio of pattern electroretinogram


Abnormal central response of multifocal electroretinogram


Abnormal paracentral response of multifocal electroretinogram


An anomaly of the pigmentation in the fovea centralis. []


Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms). []


Abnormality morphology of the macular vasculature

Any structural anomaly of the blood vessels of the macula. []


Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. [PMID:6169833]


Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. [ORCID:0000-0003-0986-4123]


Bear track congenital hypertrophy of retinal pigment epithelium

Grouped congenital hypertrophy of retinal pigment epithelium


Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. [PMID:21763485]


Crystalline deposits in the retina. [PMID:12498506]


Difficulty adjusting to changes in luminance


Mild constriction of peripheral visual field

A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. [UManchester:psergouniotis]


Very severe peripheral visual field loss

Very severe constriction of peripheral visual field

Peripheral visual field constriction with <10 degrees central field preserved. []


Abnormal best corrected visual acuity test


Visual acuity light perception with projection


Visual acuity light perception without projection


Abnormal confrontational visual field test


Abnormal automated kinetic perimetry test


Abnormal static automated perimetry test


Abnormal Humphrey SITA 30-2 perimetry test


Abnormal Humphrey SITA 24-2 perimetry test


Abnormal Humphrey SITA 10-2 perimetry test


Abnormal fundus autofluorescence imaging

Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. [PMID:27847630]


An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. []


Increased OCT-measured macular thickness


Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. [HPO:probinson]


Photoreceptor outer segment loss on macular OCT


Retinal pigment epithelial loss on macular OCT


Abnormal retinal morphology on macular OCT


Abnormal foveal morphology on macular OCT


Foveal photoreceptor layer loss on macular OCT


Foveal photoreceptor outer segment loss on macular OCT


Foveal retinal pigment epithelial loss on macular OCT


Foveal inner retinal layer loss on macular OCT


Intraretinal hyporeflective spaces on macular OCT


Subretinal hyporeflective spaces on macular OCT


Foveal intraretinal hyporeflective spaces on macular OCT


Foveal hyporeflective spaces on macular OCT


Foveal subretinal hyporeflective spaces on macular OCT


Perifoveal ring of hyperautofluorescence


Irregular central macular autofluorescence


Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. [PMID:27847630]


Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. [PMID:27847630]


Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence


Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence


Congenital stationary night blindness with normal fundus


Congenital stationary night blindness with abnormal fundus


Incomplete congenital stationary night blindness


Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. [HPO:probinson, PMID:20719302]


Any cystic lesion associated with the umbilical cord. [PMID:10206815, PMID:12666213]


Focal dilation of the umbilical vein. []


Branching of the umbilical cord before its insertion into the placenta. []


The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. []


Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. [PMID:15557460, PMID:7867814]


A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts. []


A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. []


A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region. []


Abnormality of the common tendinous ring

Abnormal common tendinous ring morphology

Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. [HPO:probinson]


Contracture of proximal interphalangeal joints of 2nd-5th fingers

Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue. []


A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. [PMID:21587051]


A hypopigmented spot in the shape of a leaf from the mountain ash tree. [HPO:probinson, PMID:23761491, PMID:9637809]


A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. [HPO:probinson, PMID:26221520]


A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. [HPO:probinson]


An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. []


A deviation from the normal concentration of glucagon in the blood circulation. [HPO:probinson]


A condition in which both eyes beat outward simultaneously. []


Decreased serum testosterone levels
Low serum testosterone levels
Low serum testosterone level
Decreased serum testosterone level

Decreased serum testosterone concentration


Abnormality of the tongue muscle
Abnormality of lingual muscle


Abnormality of extrinsic muscle of tongue


Abnormal circulating phospholipid concentration

Any deviation from the normal concentration of a phospholipid in the blood circulation. []


Abnormal level of platelet-activating factor


Increased level of platelet-activating factor


Decreased level of platelet-activating factor


The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. [DOI:10.1007/978-0-387-79948-3_2046, PhenoTips:CHum]


A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. [DOI:10.1007/978-0-387-79948-3_2046, PhenoTips:CHum]


Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). []


Increased concentration of neopterin in the cerebrospinal fluid (CSF). []


Decreased concentration of neopterin in the cerebrospinal fluid (CSF). []


Abnormal circulating neopterin concentration

Any deviation from the normal concentration of neopterin in the blood circulation. []


Abnormal cerebrospinal fluid biopterin level

Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). []


Increased concentration of biopterin in the cerebrospinal fluid (CSF). []


Decreased concentration of biopterin in the cerebrospinal fluid (CSF). []


Abnormal circulating biopterin concentration

A deviation from the normal concentration of biopterin in the blood circulation. []


An abnormality of the skin of the palm, that is, the skin of the front of the hand. []


An abnormal concentration of insulin in the body. []


An abnormal concentration of insulin in the blood. []


Elevated glycated haemoglobin
Elevated haemoglobin A1c
Elevated glycated hemoglobin
Elevated glycosylated hemoglobin
Elevated glycosylated haemoglobin
Increased HbA1c levels
Elevated HbA1c

A laboratory test result demonstrating an increase in the glycosylated hemoglobin in a blood sample.


Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. [HPO:probinson]


Osteolysis involving bones of the upper limbs


A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. [PMID:25984930]


A reduced level of the complement component C4 in the circulation. [https://emedicine.medscape.com/article/135478-overview]


Elevated circulating acylcarnitine concentration

An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. []


Increased HbA2 haemoglobin
Increased hemoglobin A2
Increased haemoglobin A2

An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. [HPO:probinson, PMID:26372049]


Abnormal transfer factor of the lung for carbon monoxide

An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs. [PMID:32310609]


Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. [PMID:32310609]


Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. [PMID:32310609]


Abnormality of the brachial nerve plexus

Any abnormality of the brachial nerve plexus. []


Abnormality of the lumbosacral nerve plexus

Any abnormality of the lumbosacral nerve plexus. []


An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. [PMID:15692466]


An anomaly of the size of the testicle (the male gonad). []


Aplasia/hypoplasia involving bones of the extremities


Increased density of hairs, i.e., and elevated number of hairs per unit area. [HPO:probinson]


Abnormality of the first branch of the internal carotid artery. [ORCID:0000-0001-5889-4463]


Abnormality of the peripheral nervous system

Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. [ORCID:0000-0001-5889-4463]


Abnormality of the somatic nervous system

Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. [ORCID:0000-0001-5889-4463]


Any abnormality of the somatic nerve plexus. [ORCID:0000-0001-5889-4463]


Any abnormality of the masticatory muscle. [ORCID:0000-0001-5208-3432]


Abnormality of the mouth floor
Abnormality of the floor of mouth

Any abnormality of the mouth floor. [ORCID:0000-0001-5208-3432]


Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. [https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html, ORCID:0000-0001-5208-3432]


An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]


Abnormality of ganglion of peripheral nervous system

An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]


An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. [https://en.wikipedia.org/wiki/Ganglion, ORCID:0000-0001-5889-4463]


Abnormality of musculature of soft palate

An abnormality of one or more of the five muscles of the soft palate. [ORCID:0000-0001-5889-4463]


Abnormality of pharyngeal musculature
Abnormality of pharynx musculature
Abnormality of musculature of pharynx
Abnormality of muscles of the pharynx

Abnormal morphology of musculature of pharynx

An abnormality of any of the muscles of the pharynx. [ORCID:0000-0001-5889-4463]


Abnormality of tensor veli palatini muscle

An abnormality of the tensor veli palatini muscle [ORCID:0000-0001-5889-4463]


An abnormality of the uvular muscle [ORCID:0000-0001-5889-4463]


Abnormality of musculature of the nose
Abnormality of nasal musculature
Abnormality of muscle of nose

An abnormality of the muscles of the structure of the nose. [ORCID:0000-0001-5889-4463]


Abnormality of musculature of facial expression

Abnormality of muscle of facial expression

An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. [ORCID:0000-0001-5889-4463]


Abnormality of levator labii superioris alaeque nasi muscle

An abnormality of the levator labii superioris alaeque nasi muscle. [ORCID:0000-0001-5889-4463]


Abnormality of the common carotid artery

Abnormal common carotid artery morphology

An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. [ORCID:0000-0001-5889-4463]


An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. [ORCID:0000-0001-5889-4463]


Abnormality of the maxillary antrum
Abnormality of the antrum of Highmore
Abnormality of the upper jaw sinus

An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. [ORCID:0000-0001-5889-4463]


An abnormality of an external jugular vein of the neck. [ORCID:0000-0001-5889-4463]


Bilateral facial palsy
Bilateral facial muscle weakness
Paralysis of both sides of the face
Bilateral facial paralysis
Bilateral facial muscle paralysis

Two-sided or bilateral weakness of the muscles of facial expression and eye closure. [ORCID:0000-0001-5889-4463]


Abnormal morphology of the midface
Dysmorphic midface
Abnormality of the shape of the midface

An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims. [ORCID:0000-0001-5889-4463]


Increased size of the primary palate bone

An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. [ORCID:0000-0001-5889-4463]


Abnormal inner ear epithelium morphology

Any structural anomaly of an inner ear epithelium. [GOC:TermGenie]


An abnormality of a mandibular ramus. [GOC:TermGenie]


An abnormality of a frontalis muscle belly. [GOC:TermGenie]


An abnormality of a masseter muscle. [GOC:TermGenie]


An abnormality of a medial pterygoid muscle. [GOC:TermGenie]


An abnormality of a mentalis muscle. [GOC:TermGenie]


An abnormality of a mylohyoid muscle. [GOC:TermGenie]


An abnormality of a nasalis muscle. [GOC:TermGenie]


An abnormality of an orbicularis oris muscle. [GOC:TermGenie]


An abnormality of a palatoglossus muscle. [GOC:TermGenie]


An abnormality of a palatopharyngeus muscle. [GOC:TermGenie]


An abnormality of the platysma muscle. [GOC:TermGenie, ORCID:0000-0001-5889-4463]


An abnormality of a procerus. [GOC:TermGenie]


An abnormality of a risorius muscle. [GOC:TermGenie]


An abnormality of the styloglossus muscle. [GOC:TermGenie, ORCID:0000-0001-5889-4463]


An abnormality of a temporalis muscle. [GOC:TermGenie]


An abnormality of a zygomaticus major muscle. [GOC:TermGenie]


Abnormality of inside lining of cheek
Abnormality of cheek mucosa

An abnormality of a buccal mucosa. [GOC:TermGenie]


An abnormality of a zygomaticus minor muscle. [GOC:TermGenie]


An abnormality of a buccal fat pad. [GOC:TermGenie]


Abnormality of cartilage of external ear

An abnormality of a cartilage of external ear. [GOC:TermGenie]


An abnormality of the angular artery, the terminal branch of the facial artery. [GOC:TermGenie, ORCID:0000-0001-5889-4463]


Any structural abnormality of a facial artery, one of the branches of the external carotid artery. [GOC:TermGenie, ORCID:0000-0001-5889-4463]


An abnormality of a ciliary ganglion. [GOC:TermGenie]


An abnormality of a buccinator muscle. [GOC:TermGenie]


Abnormality of depressor anguli oris muscle

An abnormality of a depressor anguli oris muscle. [GOC:TermGenie]


Abnormality of depressor labii inferioris muscle

An abnormality of a depressor labii inferioris. [GOC:TermGenie]


Abnormality of bones of the orbit of the skull

Abnormality of the orbital bones of skull

Abnormal morphology of bony orbit of skull

An abnormality of an orbit of skull. [GOC:TermGenie]


An abnormality of a central retinal artery. [GOC:TermGenie]


Abnormality of adenoids
Abnormality of nasopharyngeal tonsil
Abnormality of pharyngeal tonsil
Abnormality of nasopharyngeal adenoids

Abnormal nasopharyngeal adenoid morphology

Any abnormality of nasopharyngeal adenoids. []


Abnormality of cartilage of septum of nose

Malformation of cartilage of nasal septum

Abnormality of cartilage of nasal septum

Abnormality nasal septum cartilage morphology

An abnormality of a cartilage of nasal septum. [GOC:TermGenie]


Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. [ORCID:0000-0001-5889-4463]


Abnormality of blood vessel of head
Abnormality of vasculature of head
Abnormality of head blood vessel

An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. [GOC:TermGenie, ORCID:0000-0001-5889-4463]


Abnormality of the vasculature of the neck

Abnormality of the cervical blood vessels

An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. [GOC:TermGenie, ORCID:0000-0001-5889-4463]


Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. [GOC:TermGenie]


An abnormality of a dorsal nasal artery. [GOC:TermGenie]


An abnormality of an ethmoid sinus. [GOC:TermGenie]


An abnormality of an external carotid artery. [GOC:TermGenie]


Any structural abnormality of a jugular vein. [GOC:TermGenie]


Abnormality of facial vein
Abnormal vein of face

An abnormality of a facial vein. [GOC:TermGenie]


Abnormality of frontal process of maxilla

An abnormality of a frontal process of the maxilla bone. [GOC:TermGenie, ORCID:0000-0001-5889-4463]


An abnormality of a genioglossus muscle. [GOC:TermGenie]


An abnormality of a geniohyoid muscle. [GOC:TermGenie]


Abnormal glossopharyngeal nerve morphology

Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). [GOC:TermGenie]


Abnormal great auricular nerve morphology

Any structural anomaly of a great auricular nerve. [GOC:TermGenie, PMID:26504711]


Abnormal greater palatine artery morphology

An abnormality of a greater palatine artery. [GOC:TermGenie]


Abnormality of hard tissues of teeth
Abnormality of tooth hard tissue
Abnormality of odontoid tissue

An abnormality of an odontoid tissue. [GOC:TermGenie]


An abnormality of a hyoglossus muscle. [GOC:TermGenie]


Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra. [PMID:30969548]


Abnormality of lower pharynx
Abnormality of hypopharynx

A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. [GOC:TermGenie, HPO:probinson]


An abnormality of an inferior alveolar artery. [GOC:TermGenie]


An abnormality of an inferior alveolar nerve. [GOC:TermGenie]


Abnormality of the inferior labial artery

An abnormality of an artery of lower lip. [GOC:TermGenie]


Abnormality of the inferior oblique muscle

Abnormality of inferior oblique extraocular muscle

An abnormality of an inferior oblique extraocular muscle. [GOC:TermGenie]


Abnormality of inferior rectus extraocular muscle

An abnormality of an inferior rectus extraocular muscle. [GOC:TermGenie]


Abnormal inferior thyroid vein morphology

An abnormality of an inferior thyroid vein. [GOC:TermGenie]


An abnormality of an infraorbital artery. [GOC:TermGenie]


A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. [GOC:TermGenie, PMID:26564432]


An abnormality of an internal jugular vein. [GOC:TermGenie]


Abnormality of intrinsic muscle of tongue

An abnormality of an intrinsic muscle of tongue. [GOC:TermGenie]


An abnormality of a lacrimal artery. [GOC:TermGenie]


An abnormality of a lacrimal sac. [GOC:TermGenie]


Abnormal anterior cricoarytenoid muscle morphology

Abnormality of lateral cricoarytenoid muscle

Abnormal lateral cricoarytenoid muscle morphology

Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. [GOC:TermGenie]


An abnormality of a lateral pterygoid muscle. [GOC:TermGenie]


Abnormality of lateral rectus extra-ocular muscle

An abnormality of a lateral rectus extra-ocular muscle. [GOC:TermGenie]


An abnormality of a levator anguli oris. [GOC:TermGenie]


An abnormality of a levator labii superioris. [GOC:TermGenie]


Abnormal levator palpebrae superioris morphology

An abnormality of a levator palpebrae superioris. [GOC:TermGenie]


Abnormality of levator veli palatini muscle

An abnormality of a levator veli palatini. [GOC:TermGenie]


Any structural abnormality of a lingual artery. [GOC:TermGenie]


Any structural anomaly of a lingual nerve. [GOC:TermGenie, PMID:27662622]


An abnormality of a lingual tonsil. [GOC:TermGenie]


Abnormality of mandible condylar process

Abnormal mandible condylar process morphology

An abnormality of a mandible condylar process. [GOC:TermGenie]


Abnormality of mandible coronoid process

Abnormal mandible coronoid process morphology

An abnormality of a mandible coronoid process. [GOC:TermGenie]


Abnormal mandibular symphysis morphology

A structural abnormality of a mandibular symphysis. [GOC:TermGenie]


Abnormality of anterior ethmoidal artery

An abnormality of an anterior ethmoidal artery. [GOC:TermGenie]


Increased proportion of CD19+CD27+IgD- cells

Increased proportion of class-switched memory B cells

An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. [HPO:probinson]


Abnormal morphology of myocardial trabeculae

Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). []


A decrease in the concentration of alpha-fetoprotein in the blood circulation. []


A foot anomaly in which the forefoot is angled outward relative to the hindfoot.


Partial duplication of the thumb bones
Partial duplication of thumb phalanx
Notching of thumb phalanges
Bifid thumb

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. [HPO:probinson]

Partial duplication of the phalanges of the thumb


Metatarsus adductus
Metatarsus varus
Metatarsus adductovarsus
Forefoot varus

A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel.


A congenital or acquired cystic cavity within the cerebral hemisphere.


A benign fluid filled simple cyst of bone filled with serous fluid. [HPO:probinson]


Failure of development of cartilage of nose

Failure of development of nasal cartilage


Transient decrease in blood erythrocyte number

A transient reduction in the number of erythroblasts in the circulation. [HPO:probinson]


Rootless teeth
Absence of tooth root
Agenesis of tooth root
Aplasia of tooth root
Missing tooth root


Deviation of the mandible
Deviation of mandible
Canted mandible
Tilted lower jaw
Deviation of the lower jaw
Tilted mandible
Crooked lower jaw
Canted lower jaw


Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. [HPO:curators]


Failure of development of more than six teeth

The absence of six or more teeth from the normal series by a failurento develop. [PMID:19125428, PMID:31468724]


Arm and/or leg bone differences
Limb abnormality
Abnormal shape of limb bone

Any abnormality of bones of the arms or legs. [HPO:probinson]


invasion and growth of microorganisms in the gastrointestinal system; may be clinically inapparent or result in local cellular injury.


An allergic reaction triggered by exposure to animal-associated allergens, includes allergenic factors in venom, saliva and dander.


Progressive spinal muscle wasting
Progressive spinal muscle degeneration

group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts.


Underdeveloped right heart chamber
Heart right ventricle hypoplasia
Small right heart chamber

Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. [MP:0010422]


Missing upper lateral incisor
Absence of maxillary lateral incisor
Absence of upper lateral incisor
Missing maxillary lateral incisor


An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. []


Missing front tooth
Absence of front tooth


Peribronchial cuffing
Peribronchial thickening

A radiologic finding that describes haziness around a bronchus or large bronchiole seen end on. It may either represent bronchial wall thickening or fluid around the bronchi.


Cone rod dystrophy
Cone-rod retinal dystrophy

Genetically heterogeneous and sometimes syndromic (e.g., BARDET BIEDL SYNDROME; and SPINOCEREBELLAR ATAXIA TYPE 7) retinopathies with initial RETINAL CONE involvement. They are characterized by decreased VISUAL ACUITY; COLOR VISION DEFECTS; progressive loss of peripheral vision and night blindness.


Non-alcoholic fatty pancreatic disease
Pancreatic fatty infiltration
Pancreatic steatosis
Pancreatic lipomatosis
Fatty pancreas
Pancreatic lipomatous pseudohypertrophy

Fat infiltration in the pancreas. [PMID:32490903]


An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. [PMID:15066961, PMID:7626345]


Metaphase I oocyte meiotic arrest
Oocyte meiotic arrest at metaphase I

Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. [PMID:27273344, PMID:32473092]


Radial ray abnormality
Radial ray deformity
Radial ray anomaly
Deformity of radial ray


Limited mandibular mobility
Limited jaw movement
Decrease in jaw movement
Decrease in jaw mobility
Decrease in mandibular mobility
Decrease in mandibular movement


Dilatation of intrahepatic biliary ducts

Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). [PMID:32386558]


Small facial bones
Decreased size of facial skeleton
Small facial skeleton


Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base). []


Decreased compound muscle action potential amplitude

Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. [PMID:15961865]


Pectus excavatum or pectus carinatum
Pectus excavatum or carinatum
Pectus excavatum/carinatum


A congenital malformation of the tricuspid valve characterized by leaflet deformation. [HPO:probinson, PMID:2007717, PMID:26059011, UToronto:chum]


Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot []


Albers-Schoenberg disease
Albers-Schonberg disease

An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype.


A rare disorder with characteristics of sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. Most commonly, the condition is detected in investigating a fortuitous finding of hypersplenism or splenomegaly. Main histopathologic findings are periportal fibrosis, occlusion of small portal veins, sclerosis of the portal venous system, and proliferation of small vascular channels within/around portal tracts. The disease is slowly progressive. Exposure to toxic substances or drugs, autoimmune and connective tissue diseases, systemic or intraabdominal infections, and clotting abnormalities have been incriminated. A genetic background has been suggested.