An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. [HPO:probinson]


An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. [HPO:probinson]


An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. [HPO:probinson]


Displacement or malalignment of one or more joints in the lower extremity (leg). [HPO:probinson]


Displacement or malalignment of one or more joints in the upper extremity (arm). [HPO:probinson]


Flared outermost wide portion of of calf bone

The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. [HPO:probinson]


Flared outermost metaphysis of shankbone

The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia. [HPO:probinson]


The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. [HPO:probinson]


The presence of 11 instead of the normal 12 thoracic vertebrae. [UToronto:bgallinger]


A deviation from the normal number of vertebrae in the spinal column. [HPO:probinson]


Underdevelopment of the anterior commissure. [UToronto:bgallinger]


An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. [UToronto:bgallinger]


Presence of only 10 (instead of the usual 12) pairs of ribs. [UToronto:bgallinger]


Abnormality of wide portion of outermost thighbone

An anomaly of the metaphysis of the distal femur (close to the knee). [HPO:probinson]


Irregularity of wide portion of calf bone

Irregularity of the normally smooth surface of a metaphysis of a fibula. [HPO:probinson]


Irregularity of the normally smooth surface of a metaphysis of a tibia. [HPO:probinson]


Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. [HPO:probinson]


Atrophy of the superior cerebellar peduncle. [HPO:probinson]


Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle. [HPO:probinson]


Triangle shaped tongue
Triangular tongue

A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. [UToronto:bgallinger]


Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. []


Underdeveloped pedicle of the fifth lumbar vertebra. [UToronto:bgallinger]


Underdeveloped vertebral pedicle. [HPO:probinson]


Abnormal morphology of a vertebral pedical. [UToronto:bgallinger]


Scrotum in a position other than the usual position inferior to the base of the penis. [PMID:23650202]


Additional scrotum, or part of a scrotum in an abnormal location. [PMID:23650202]


Reduced red cell adenosine deaminase level

Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. [HPO:probinson]


An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. []


Reduced erythrocyte 2,3-diphosphoglycerate concentration

This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. [HPO:probinson]


Elevated red cell adenosine deaminase level

Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. [HPO:probinson, PMID:3348976]


Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. [HPO:probinson, PMID:12913845, PMID:17451374]


Calcification of the interosseus membrane of the forearm

Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna. [HPO:probinson]


Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. [PMID:23650202]


Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age. [HPO:probinson, PMID:23650202]


Localized or generalized decreased genital pigmentation. [HPO:probinson, PMID:23650202]


Localized or generalized increased genital pigmentation. []


The presence of multiple polyps in the small intestine. [HPO:probinson]


The presence of multiple polyps in the large intestine. [HPO:probinson]


A reduced ability of a T cell population to expand by cell division following T cell activation. [HPO:probinson]


Complete lack of mature B cells, that is, of B cells that have left the bone marrow. [HPO:probinson]


Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. [HPO:probinson]


Thrombosis within the hepatic portal system.


The occurence of fever in a mother during the first trimester of pregnancy. [HPO:probinson, PMID:24917213]


Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. [HPO:probinson]


Abnormalities of the overall muscle bulk based on clinical observation. [Neuromics:vstraub]


Extremely elevated phospho-CK serum level

Extremely elevated creatine phosphokinase

An increased creatine kinase level more than 50X above the upper normal level. [https://orcid.org/0000-0001-7941-2961, Neuromics:vstraub]


Highly elevated serum phosph-CK
Highly elevated serum CPK
Highly elevated serum CK
Highly elevated CPK
Highly elevated creatine phosphokinase

An increased CPK level between 4X and 50X above the upper normal level. [Neuromics:vstraub]


Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. [HPO:probinson]


Glycogen accumulation in muscle fibre lysosomes

Glycogen accumulation in muscle fiber lysosomes

An increased amount of glycogen in muscle tissue found specifically in lysosomes. [Neuromics:vstraub]


The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. [Neuromics:vstraub, PMID:17504518]


Accumulation of muscle fibre valosin-containing protein

Accumulation of muscle fiber valosin-containing protein

Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy. [Neuromics:vstraub]


Abnormal muscle fibre valosin-containing protein

Abnormal muscle fiber valosin-containing protein

A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. [Neuromics:vstraub]


Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. [Neuromics:vstraub]


A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. [Neuromics:vstraub]


A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein. [Neuromics:vstraub]


Difficulty in performing the correct execution of limbs movements in absence of motor impairment. [ICM:PCaroppo]


Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). [ICM:PCaroppo]


Reduced velocity and acceleration in the pupillary light response. [PMID:974056, UNCL:tevangelista]


Ca channel antibody positivity
Ca2+ channel antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. [PMID:7739683, UNCL:mbertoli]


Acetylcholine receptor antibody positivity

Anti-acetylcholine receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury. [UK:rheller]


EMG: incremental response of compound muscle action potential to repetitive nerve stimulation

A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. [PMID:23970984, UK:rheller]


Unfavourable response of muscle weakness to acetylcholine esterase inhibitors

Unfavorable response of muscle weakness to acetylcholine esterase inhibitors

Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. [UK:rheller]


Favourable response of weakness to acetylcholine esterase inhibitors

Favorable response of weakness to acetylcholine esterase inhibitors

Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. [UK:rheller]


Response to drugs acting on neuromuscular transmission

Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. [UK:rheller]


Fatiguable weakness of proximal limb muscles

A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [UK:rheller]


A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [UK:rheller]


Fatigable weakness of distal limb muscles

A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [UK:rheller]


A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. []


Fatigable weakness of respiratory muscles

A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [UNCL:mbertoli]


Fatigable weakness of swallowing muscles

A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [PMID:17986328, UK:rheller]


A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [PMID:17986328, UNCL:hlochmueller]


A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [PMID:17986328, UNCL:tevangelista]


A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. [HPO:probinson, PMID:17986328, UNCL:mbertoli]


Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. []


Tremor classified by the affected body part. [HPO:probinson]


An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). [HPO:probinson, PMID:21404980]


Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. []


Abnormal peripheral action potential amplitude

An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. []


Abnormality of central nervous system electrophysiology


Loss of myelin from peripheral nerves in a pattern that differs between right and left. [HPO:jbaets]


Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. [HPO:jbeats]


Congenital absence of the myelin sheath on a nerve. [HPO:jbeats, PMID:22246888]


Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue. [HPO:probinson, PMID:24394852]


The presence of an increased number of twists and turns of the temporal artery. [HPO:probinson]


Abnormality of vascular function. [HPO:probinson]


Glomerular enlargement greater than the fiftieth percentile.


A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. [HPO:probinson, PMID:11157536]


Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. [HPO:probinson]


An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. [HPO:probinson]


Bleeding from mouth
Oral cavity bleeding
Oral cavity hemorrhage

Recurrent or excessive bleeding from the mouth. [HPO:cmiller]


An abnormal high amount of bleeding following the procedure of taking a blood sample. [HPO:cmiller]


Excessive bleeding from superficial cuts

An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. [HPO:cmiller]


Prolonged bleeding following circumcision

Bleeding that persists for a longer than usual time following circumcision. []


Enhanced ristocetin cofactor assay activity

Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. [HPO:cmiller]


Absence of intermediate von Willibrand factor multimers

Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. [HPO:cmiller]


Total absence von Willebrand factor multimers

Complete absence of all von Willebrand factor multimers. [HPO:cmiller]


Abnormal presence of ultra-large von Willebrand factor multimers

Detection of abnormal ultra-large von Willebrand factor multimers. [HPO:cmiller, PMID:11756169, PMID:25983111]


Absence of large von Willibrand factor multimers

Absence of large von Willebrand Factor multimers on gel electrophoresis. [HPO:cmiller]


Abnormal von Willebrand factor multimer distribution

Deviation from the normal von Willebrand factor multimer pattern. [HPO:cmiller]


Impaired von Willibrand factor collagen binding activity

Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. [HPO:cmiller, PMID:18809794]


Impaired ristocetin cofactor assay activity

Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. [HPO:cmiller]


An anomaly of the inner mucous membrane of the uterus. [HPO:probinson]


A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue. [HPO:probinson, UToronto:htrang]


A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. [HPO:probinson, PMID:24843229]


Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). [HPO:probinson, UToronto:htrang]


Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. [UToronto:htrang]


Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. [UToronto:htrang]


A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. [HPO:probinson, PMID:24843229]


Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. [UToronto:htrang]


Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. [UToronto:htrang]


A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. [HPO:probinson]


Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy. [UToronto:htrang]


Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. [UToronto:htrang]


A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. [HPO:probinson, PMID:24843229]


Abnormal muscle fibre alpha dystroglycan

Abnormal muscle fiber alpha dystroglycan

A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. []


Abnormally reduced amount of delta sarcoglycan in muscle. [PMID:26709803]


Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. [PMID:26709803, UToronto:htrang]


Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. [UToronto:htrang]


Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy. [UToronto:htrang]


Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy. [UToronto:htrang]


Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. [UToronto:htrang]


Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [HPO:probinson, PMID:24843229, UToronto:htrang]


Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [HPO:probinson, PMID:24843229, UToronto:htrang]


Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [HPO:probinson, PMID:24843229, UToronto:htrang]


A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. [UToronto:htrang]


Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. [UToronto:htrang]


Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. [HPO:probinson, PMID:24843229, UToronto:htrang]


Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. [HPO:probinson, PMID:11592034, UToronto:htrang]


Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. [PMID:11917091, UToronto:htrang]


Abnormal muscle fibre dystrophin expression

Abnormal muscle fiber dystrophin expression

A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. [PMID:11917091, UToronto:HTrang]


A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. []


A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. [HPO:probinson, PMID:9400354, UToronto:HTrang]


A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. [HPO:Probinson]


Abnormal muscle fibre merosin expression

Abnormal muscle fiber merosin expression

An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. [HPO:probinson, PMID:2185464]


Abnormal muscle fibre protein expression

Abnormal muscle fiber protein expression

An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. []


Decreased concentration of lactate in the cerebrospinal fluid. []


Abnormal concentration of lactate in the cerebrospinal fluid. [HPO:probinson]


Abnormal drinking behavior
Abnormal drinking behaviour

Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. []


Punctate periventricular T2 hyperintense foci

Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter. []


An abnormal reduction in mitochondrial DNA content of cells. [PMID:23385875]


The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. []


When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity. []


A morphological anomaly of the lateral ventricle. []


A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another. []


A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another. []


Inability of the kidneys to produce either concentrated or dilute urine. []


An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. [eom:6a2c173d3d7e3219, PMID:19125433]


Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. [eom:4d06c726e63758c5, PMID:19125433]


The absence of all phalanges of a digit and the associated metacarpal /metatarsal. [eom:603438e0616f4f69, PMID:19125433]


Missing nasal cartilage
Absent nasal cartilage
Missing cartilage of nose

Lack of a palpable nasal cartilage. [eom:73e4e8bb2eec316d, PMID:19152422]


Abnormality of cartilage of nose
Abnormality of the nasal cartilage
Deformity of nasal cartilage
Deformity of cartilage of nose
Anomaly of nasal cartilage
Malformation of cartilage of nose
Malformation of nasal cartilage
Anomaly of cartilage of nose

A morphological anomaly of the nasal cartilage. []


Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. [eom:ddce48fcd9ee46f4, PMID:19152421]


Small indentation in the lower part of the ascending helix, concha, or in the crus helix. [eom:1fe5d46deac24493, PMID:19152421]


Small cartilaginous prominence on the posterior concha. [eom:193d1645eb4eced8, PMID:19152421]


Small protrusion within the pinna. [eom:1b6d89bad30b8f18, PMID:19152421]


The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. [PMID:16391543]


Abnormal female reproductive system physiology


Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. [HPO:probinson, PMID:21654930]


Inability to close the eyelids
Eyelids stay open

A condition in which the eyelids do not close to cover the eye completely. [PMID:20590416]


EMG: repetitive nerve stimulation abnormality

Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. [UToronto:HTrang]


An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. [PMID:14617673, UToronto:htrang]


Slowed relaxation of muscles in the arm. [UToronto:htrang]


Slowed relaxation of muscles in the leg. [UToronto:htrang]


Slowed relaxation of muscles in the jaw. [UToronto:htrang]


Slowed relaxation of muscles in the face. [UToronto:htrang]


An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. [HPO:probinson, PMID:10402095]


Muscle hypertrophy affecting the scapular muscles. [UToronto:htrang]


Muscle hypertrophy affecting the paraspinal muscles. [UToronto:htrang]


Overgrowth of neck muscles
Increased size of neck muscles
Large neck muscles
Hypertrophy of cervical muscles

Muscle hypertrophy affecting the muscles of the neck. [UToronto:htrang]


Large facial muscles
Increased size of facial muscles

Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [UToronto:htrang]


Hair on the neck extends less inferiorly than usual. [UToronto:htrang]


Posterior malposition of the anus. [UToronto:htrang]


An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. [HPO:probinson]


Abnormality of vaginal lips
Abnormality of the labia majora

An anomaly of the outer labia. [HPO:probinson]


Abnormality of the labia minora
Abnormality of the inner vaginal lips

An anomaly of the labia minora, the folds of skin between the outer labia. [HPO:probinson]


A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. [HPO:probinson, MP:0002769]


Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. [HPO:probinson, PMID:10402395]


A structural abnormality of the sperm tail. [HPO:probinson, PMID:22198630]


A structural abnormality of the sperm mid-piece. [HPO:22198630, HPO:probinson]


A structural abnormality of the sperm neck. [HPO:probinson, PMID:22198630]


A structural abnormality of the sperm head. [HPO:probinson, PMID:22198630]


A structural anomaly of a male reproductive cell. [HPO:probinson]


Abnormal shape of a reproductive cell
Abnormally shaped germ cell
Abnormally shaped reproductive cell

Any structural anomaly of a reproductive cell. [HPO:probinson]


Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum. [HPO:probinson]


Increased number or density of the folded ridges (wrinkles) of skin of the scrotum. [HPO:probinson]


Anomaly of the folded ridges (wrinkles) of skin of the scrotum. [HPO:probinson]


Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. [HPO:probinson, PMID:12371222]


Hepatic fibrosis that reaches from a portal area to another portal area. [HPO:probinson, PMID:14568255]


Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle. [HPO:probinson]


The pattern by which a phenotype affects one or more regions of the body. [HPO:probinson]


Noncompaction cardiomyopathy that affects both ventricles. [HPO:probinson]


Right ventricular noncompaction cardiomyopathy

A predominantly right ventricular variant of isolated noncompaction cardiomyopathy. [HPO:probinson, PMID:23921774]


Underdeveloped female external genitalia

Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). [HPO:probinson]


Underdevelopment of the breast on both sides. [HPO:probinson]


Thin base of nose
Decreased width of nasal base
Narrow nasal base
Decreased width of base of nose
Narrow base of nose
Thin nasal base

Decreased distance between the attachments of the alae nasi to the face. [HPO:probinson, PMID:19152422]


Malformation of nasal base
Anomaly of base of nose
Deformity of base of nose
Abnormality of base of nose
Malformation of base of nose
Anomaly of nasal base
Abnormal nasal base
Deformity of nasal base

An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. [HPO:probinson, PMID:19152422]


Paralysis of one side of the face
Unilateral facial paralysis
Facial droop
Unilateral facial palsy

One-sided weakness of the muscles of facial expression and eye closure. [HPO:probinson]


Periventricular cerebral white matter hypodensities

Periventricular white matter hypodensities

Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. [HPO:probinson, PMID:16239634]


Absent ossification of thoracic vertebral bodies

A lack of bone mineralization of one or more body of thoracic vertebra. [HPO:probinson]


Abnormal maturation of long bone in upper arm

An anomaly of the process of formation of bone in the humerus. [HPO:probinson]


A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz). [HPO:probinson]


Hearing loss that occurs acutely and resolves completely. [PMID:21776317]


A structural anomaly of the ciliary body. [CINEAS:asollie]


A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. [CINEAS:asollie]


A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. [HPO:probinson]


Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). [HPO:probinson]


Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). [HPO:probinson]


A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) [HPO:probinson]


A deviation from normal size of the placenta. [HPO:probinson]


An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. [UToronto:htrang]


An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. [UToronto:htrang]


The presence of atrophy (wasting) of the cerebral white matter. [UToronto:htrang]


A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first. [KI:phemming]


A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. [KI:phemming]


Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. [ORCID:0000-0002-6670-9157, PMID:31783983]


Abnormal neuron shape
Abnormal neuronal morphology

A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. [KI:phemming, PMID:28723006]


An increased polymorphonuclear cell count in the cerebrospinal fluid. [KI:phemming]


Abnormal increase in size of the brainstem. [UToronto:htrang]


Increased amount of myelin in the central nervous system. [UToronto:htrang]


A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. [HPO:probinson]


Focal T2 hypointense basal ganglia lesion

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. [HPO:probinson]


Abnormal basal ganglia MRI signal intensity

A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. [UToronto:htrang]


A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem. [UToronto:htrang]


A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. [UToronto:htrang]


A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. [UToronto:htrang]


A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. [UToronto:htrang]


Fingernail that appears thin when viewed on end. [HPO:probinson, PMID:19125433]


Abnormal anatomic location of the anterior pituitary gland. [HPO:probinson]


Saccular descending thoracic aortic aneurysm

An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall [HPO:probinson]


Fusiform descending thoracic aortic aneurysm

A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall [HPO:probinson]


An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. [HPO:probinson]


Functional abnormality of the GI tract
GI dysfunction

Functional abnormality of the gastrointestinal tract

Abnormal functionality of the gastrointestinal tract. [HPO:probinson]


A profound (essentially complete) form of hearing impairment. [HPO:probinson]


The presence of a moderate form of hearing impairment. [HPO:probinson]


The presence of a mild form of hearing impairment. [HPO:probinson]


Delayed ossification of vertebral epiphysis

A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. [HPO:probinson]


Abnormal brain choline/creatine ratio by MRS

A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). [UToronto:htrang]


Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy

Reduced brain N-acetyl aspartate level by MRS

A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). [UToronto:htrang]


An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). [UToronto:htrang]


An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). [UToronto:htrang]


An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). [HPO:probinson]


Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. [UToronto:htrang]


A functional anomaly of the large intestine. [HPO:probinson]


Anomaly of shaft of long bone of lower limb

A structural abnormality of a diaphysis of the leg. [UToronto:htrang]


Focal proliferation of glial cells in the cerebellum. [UToronto:htrang]


Decreased size of the basal ganglia. [HPO:probinson]


A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. [HPO:probinson]


A reduction in the quantity of space occupied by the thalamus. [UToronto:htrang]


An increase in the quantity of space occupied by the thalamus. [UToronto:htrang]


Deviation from the normal range of size of the thalamus. [UToronto:htrang]


A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. [HPO:probinson]


A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. [HPO:probinson]


A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. [HPO:probinson]


An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. [PMID:22724080, UToronto:htrang]


A functional abnormality of the pineal gland. [UToronto:htrang]


An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. [UToronto:htrang]


An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland. [PMID:24456088, UToronto:htrang]


An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. [UToronto:htrang]


A structural abnormality of the pineal gland. [UToronto:htrang]


An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. [HPO:probinson]


An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. [UToronto:htrang]


An anomalous build up of iron (Fe) in the substantia nigra. [HPO:probinson]


An abnormal build up of iron (Fe) in the globus pallidus. [HPO:probinson]


Brain copper accumulation
Copper accumulation in brain

An anomalous build up of copper (Cu) in the brain. [HPO:probinson]


A failure to develop of the upper vagina. [HPO:probinson]


Regional left ventricular wall motion abnormality

An abnormal motion of a segment of the left ventricle during the cardiac cycle. [HPO:probinson]


A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. [HPO:probinson, PMID:16376782, PMID:27206819]


A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. [HPO:probinson, PMID:16376782, PMID:27206819]


A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. [HPO:probinson]


A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. [HPO:probinson, PMID:16376782, PMID:27206819]


Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. [HPO:probinson, PMID:15073255]


Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan. [HPO:probinson]


Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan. [HPO:probinson]


Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan. [HPO:probinson, PMID:23585882]


Abnormal brain FDG positron emission tomography

An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. [HPO:probinson]


Abnormal brain positron emission tomography

A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. [HPO:probinson]


Decreased concentration of dopamine in the cerebrospinal fluid (CSF). [Monarch:mhaendel]


Increased concentration of dopamine in the cerebrospinal fluid (CSF). [Monarch:mhaendel]


Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). [Monarch:mhaendel]


A abnormal increase in the inflammatory response to injury or infection. [MONARCH:mhaendel]


An abnormal reduction in the inflammatory response to injury or infection. [MONARCH:mhaendel]


Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. [MONARCH:mhaendel]


An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging. [HPO:probinson, PMID:23810640]


Decreased amount of pigmentation in the fovea centralis. [HPO:probinson]


Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. [HPO:probinson, PMID:20305277, PMID:26331051]


A deviation from the norm of the intracranial pressure. [HPO:probinson]


Abnormality of nervous system morphology

A structural anomaly of the nervous system. [HPO:probinson]


Abnormality of nervous system physiology

A functional anomaly of the nervous system. [HPO:probinson]


Reduction in the amount of blood flow to the iris. [HPO:probinson]


Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. [HPO:probinson]


An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm. [HPO:probinson]


Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. [HPO:probinson, PMID:23157966]


A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. [HPO:probinson]


Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. [Eurenomics:fschaefer]


Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. [Eurenomics:fschaefer]


Elevated concentration of SO4(2-), i.e., sulfate, in the urine. [HPO:probinson]


Abnormal concentration of sulfate in the urine. [HPO:probinson]


An abnormal concentration of magnesium the urine. [Eurenomics:ewuehl]


An abnormally decreased sodium concentration in the urine. [Eurenomics:ewuehl]


Abnormal urine Na concentration
Abnormal urine Na+ levels

An abnormal concentration of sodium in the urine. [Eurenomics:fschaefer]


Renal Cl- wasting
Kidney chloride wasting
Renal Cl wasting

High urine chloride in the presence of hypochloridemia. [Eurenomics:ewuehl]


Abnormal urine Cl- concentration
Abnormal urine Cl concentration

An abnormal concentration of chloride in the urine. [Eurenomics:fschaefer]


An abnormal phosphate concentration in the urine. [Eurenomics:ewuehl]


An abnormal concentration of potassium(1+) in the urine. [Eurenomics:fschaefer]


Severely increased levels of protein in the urine (1000-3000 mg per day in adults). [Eurenomics:ewuehl]


Moderately increased levels of protein in the urine (500-1000 mg per day in adults). [Eurenomics:fschaefer]


Mildly increased levels of protein in the urine (150-500 mg per day in adults). [Eurenomics:eweuehl]


Abnormal urinary electrolyte concentration

An abnormality in the concentration of electrolytes in the urine. [PMID:25215103]


A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. [Eurenomics:ewuehl]


A two-sided form of atrophy of the kidney. [HPO:probinson]


A structural anomaly of the nephron. [Eurenomics:fschaefer]


A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. [HPO:probinson]


Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]


Premature epimetaphyseal fusion in radius

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]


Premature epimetaphyseal fusion in tibia

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]


Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]


Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. [HPO:probinson]


A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. [HPO:probinson]


A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. [HPO:probinson]


A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. [HPO:probinson, PMID:16982586]


EEG with centrotemporal focal spike waves

EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:probinson]


Small thumbnail
Underdeveloped thumbnail

A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. [HPO:probinson]


Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs. [HPO:probinson]

Increased neutrophil nuclear projections


Lack of specific granules in neutrophils. [HPO:probinson, PMID:6155073]


The presence of varices (enlarged and convoluted blood vessels) in the colon. [HPO:probinson, PMID:16688816]


A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva. [HPO:probinson]


Anomalous movements of the eyes that occur without the subject wanting them to happen. [HPO:probinson]


A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells. [HPO:probinson, PMID:18097476]


An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum. [ORCID:0000-0001-5208-3432]


An increased concentration of fructose 1,6-bisphosphate aldolase in the serum. [ORCID:0000-0001-5208-3432]


An epidermoid cyst in the armpit. [ORCID:0000-0001-5208-3432]


Maternal anticardiolipin antibody positive

The presence of circulating autoantibodies to anticardiolipin in the mother. [ORCID:0000-0001-5208-3432, PMID:1495720, PMID:9722063]


A deviation from the normal count of dense granules per thrombocyte. [DDD:wouwehand]


A deviation from the normal count of alpha granules per thrombocyte. [DDD:wouwehand]


A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. [HPO:probinson]


A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. [HPO:probinson, PMID:3877532]


An anomalous location and arrangement of platelet alpha granules. [DDD:wouwehand]


A deviation from the normal discoid platelet shape. [DD:WHO]


A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. [HPO:probinson, PMID:22356347]


Abnormality of the cerebral arterial circle

An anomaly of the circle of Willis, also known as the cerebral arterial circle. [HPO:probinson]


An abnormally decreased amount of catalase level. [HPO:probinson]


A pale yellow discoloration of the entire optic disc. [HPO:probinson, PMID:19668477]


Extra-axial cerebrospinal fluid accumulation

An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. [HPO:probinson, PMID:22327705, PMID:23838695]


An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. [HPO:probinson]


An abnormally decreased size of the pituitary gland. [ORCID:0000-0001-5208-3432]


A deviation from the normal size of the pituitary gland. [HPO:probinson]


An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. [HPO:probinson]


Abnormality of the brainstem white matter

An anomaly of the white matter of brainstem. [HPO:probinson]


A wartlike (with multiple small elevated projections) papule. [HPO:probinson]


A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. [HPO:probinson]


A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. [ORCID:0000-0001-5208-3432]


A decrease in the maximum amount of negative pressure a person can generate during an inhalation. [ORCID:0000-0001-5208-3432]


An anomaly of the intracellular membrane complexes known as the dense tubular system. [DDD:wouwehand, PMID:1322202]


An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. [HPO:probinson, PMID:21586175]


An arachnoid cyst located within the ventricular system. [HPO:probinson, PMID:8951893]


An arachnoid cyst located at the margin of the cerebellum and pons. [ORCID:0000-0001-5208-3432]


Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. [DDD:wouwehand]


Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. [DDD:wouwehand, PMID:8467233]


A venous angioma of the frontal lobe of the brain. [HPO:probinson]


An anomaly of cerebral veins. [HPO:probinson]


A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. [HPO:probinson, PMID:22505778]


Specific pneumococcal antibody deficiency

Decreased specific pneumococcal antibody level

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci. [HPO:probinson]


Increased liver iron level
Increased iron concentration in liver

An increased level of iron in liver tissues. [HPO:probinson, PMID:10922422, PMID:14668426]


An above normal level of saturation of serum transferrin with iron. [HPO:probinson]


A structural anomaly of the inferior portion of the vermis of cerebellum. [ORCID:0000-0001-5208-3432]


Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries. [HPO:probinson]


Medial calcification of medium-sized arteries

Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. [HPO:probinson]


Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. [HPO:probinson]


A chronic loss of wrist joint motion on one side only. [HPO:probinson]


A chronic loss of wrist joint motion on the right and left sides. [HPO:probinson]


Inflammation of the synovial membrane of the sacroiliac joint. [ORCID:0000-0001-5208-3432]


Reduced CSF 5-methyltetrahydrofolate concentration

Decreased CSF 5-methyltetrahydrofolate concentration

A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. [HPO:probinson]


A functional abnormality of the biliary tree. [HPO:probinson]


A functional anomaly of the gallbladder. [HPO:probinson]


Abnormal gallbladder structure
Abnormal shape of gallbladder

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


Reduction in length of the ventral (lower) skin of prepuce of penis. [ORCID:0000-0001-5208-3432]


A failure to meet one or more age-related milestones of social behavior. [HPO:probinson]


Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. [HPO:probinson]


Underdevelopment of the cerebral white matter. [HPO:probinson]


An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. [HPO:probinson, ORCID:0000-0001-5208-3432]


An abnormally high level of blood oxygen. [HPO:probinson]


Wasting or decrease in size of all or part of the duodenum. [HPO:probinson]


Notched front deciduous tooth
Syphilitic primary incisor
Notched front primary tooth
Notched front baby tooth

The presence of a V-shaped indentation (notch) in the primary central incisor. [HPO:probinson]


Abnormal urine citric acid concentration

A deviation from normal of the concentration of citrate(3-) in the urine. [HPO:probinson]


Decreased urine alpha-ketoglutarate concentration

A lower than normal concentration of 2-oxoglutaric acid in the urine. [HPO:probinson]


Increased urine alpha-ketoglutarate concentration

A greater than normal concentration of 2-oxoglutaric acid in the urine. [HPO:probinson]


An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. [HPO:probinson]


Allergy to iodine contrast media used in radiological studies. [HPO:probinson]


Reduced intensity of muscle tendon reflexes in jaw. [HPO:probinson]


Muscular hypotonia of one or more limbs. [HPO:probinson]


Delayed self-feeding during toddler years

A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age). [HPO:probinson]


Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. [HPO:probinson]


An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. [HPO:probinson, MP:0005584]


A functional anomaly of the eye. [HPO:probinson]


Abnormal eye structure
Abnormality of the globe
Abnormally shaped eye

A structural anomaly of the globe of the eye, or bulbus oculi. [HPO:probinson]


Deformity of the malar bones
Abnormality of malar bones
Malformation of the malar bones
Anomaly of the malar bones
Malar anomaly

An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]


Accessory fontanelle
Supernumary fontanelle
Extra fontanelle

Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. [HPO:probinson]


Decreased sialylation of O-linked protein glycosylation

An reduced addition of sialic acids to O-linked glycans. [HPO:probinson]


Abnormal sialylation of O-linked protein glycosylation

An anomaly of the addition of sialic acids to O-linked glycans. [HPO:probinson]


Increased fucosylation of O-linked protein glycosylation

Increased addition of fucose sugar units to O-linked glycans. [HPO:probinson]


Decreased fucosylation of O-linked protein glycosylation

A reduction of the addition of fucose sugar units to O-linked glycans. [HPO:probinson]


Abnormal fucosylation of O-linked protein glycosylation

An anomaly of the addition of fucose sugar units to O-linked glycans. [HPO:probinson]


An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. [HPO:probinson]


Increased mannosylation of N-linked protein glycosylation

Increased addition of mannose to N-linked glycans. [HPO:probinson]


Decreased mannosylation of N-linked protein glycosylation

Reduced addition of mannose to N-linked glycans. [HPO:probinson]


Abnormal mannosylation of N-linked protein glycosylation

An anomaly of the addition of mannose to N-linked glycans. [HPO:probinson]


Increased fucosylation of N-linked protein glycosylation

Increased addition of fucose sugar units to N-linked glycans. [HPO:probinson]


Decreased fucosylation of N-linked protein glycosylation

Decreased addition of fucose sugar units to N-linked glycans. [HPO:probinson]


Abnormal fucosylation of protein N-linked glycosylation

An anomaly of the addition of fucose sugar units to N-linked glycans. [HPO:probinson]


Increased sialylation of N-linked protein glycosylation

Increased addition of sialic acids to N-linked glycans. [HPO:probinson]


Decreased sialylation of N-linked protein glycosylation

Decreased addition of sialic acids to N-linked glycans. [HPO:probinson]


Abnormal sialylation of N-linked protein glycosylation

An anomaly of the addition of sialic acids to N-linked glycans. [HPO:probinson]


Decreased galactosylation of N-linked protein glycosylation

A reduction in the amount of galactose residues of N-glycans. [HPO:probinson]


An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. [HPO:probinson, PMID:22516080]


An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. [HPO:probinson]


An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. [HPO:probinson]


A reduction in the number of calories used per unit time. [HPO:probinson]


An increase in the number of calories used per unit time. [HPO:probinson]


Any anomaly in the utilization of energy (calories). [HPO:probinson]


An anomaly in the processes involved in the maintenance of an internal equilibrium. [HPO:probinson]


An abnormality of the metabolism of folic acid, which is also known as vitamin B9. [HPO:probinson]


Abnormal autonomic nervous system morphology

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


Abnormal coeliac artery morphology
Abnormality of the coeliac artery
Abnormality of the celiac artery

An anomaly of the celiac artery. [HPO:probinson]


Lack of skin pigmentation (coloring) of the arms and legs. [HPO:probinson]


Lack of skin pigmentation (coloring) of the abdomen. [HPO:probinson]


An anomaly of the process of rib bone formation. [HPO:probinson]


Coarctation of the descending aortic arch

Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. [HPO:probinson]


Failure of the ureter to undergo development. [HPO:probinson]


Increased length of the middle phalanx of finger. [HPO:probinson]


Reduced diameter of the proximal phalanx of finger. [HPO:probinson]


Reduced diameter of the distal phalanx of finger. [HPO:probinson]


Reduced diameter of the middle phalanx of finger. [HPO:probinson]


Abnormality of the occipital bone of the skull. [HPO:probinson]


An abnormal pigmentation pattern of the external genitalia. [HPO:probinson]


Synechia of the gums
Fusion of the gingiva
Fusion of gums
Partial fusion of the gums
Gingival synechia
Upper and lower gums fused together

A congenital defect with an abnormal joining of the gums of the upper and lower jaw. [HPO:probinson, PMID:19858676]


Hypothalamic luteinizing hormone-releasing hormone deficiency

Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. [HPO:probinson]


An abnormal functionality of the hypothalamus. [HPO:probinson]


Small end part of innermost shinbone
Small end part of innermost shankbone

Reduced size of the proximal epiphysis of the tibia. [HPO:probinson]


Reduced size of the Distal epiphysis of femur. [HPO:probinson]


Reduced concentration of serine in the blood. [HPO:probinson]


An abnormally reduced concentration of glycine in the blood. [HPO:probinson]


Autosomal dominant inheritance with maternal imprinting

A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. [HPO:probinson]


Autosomal dominant inheritance with paternal imprinting

A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. [HPO:probinson, PMID:18678320]


Increased carotid artery intimal medial thickness

An increase in the combined thickness of the intima and media of the carotid artery. [HPO:probinson, PMID:9878640]


Intermittent episodes of increased resistance to the passage of air in the upper airway. [HPO:probinson]


A decreased amount of glycogen in muscle tissue. [HPO:probinson]


Any anomaly in the amount of glycogen in muscle tissue. [HPO:probinson]


Absent respiratory ciliary axoneme radial spokes

Absence of the radial spokes of the axoneme of the respiratory cilium. [HPO:probinson, PMID:19606528]


Absent central microtubular pair morphology of respiratory motile cilia

Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. [HPO:probinson]


Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. [HPO:probinson, PMID:19606528, PMID:20301301]


Abnormal respiratory motile cilium physiology

Any functional anomaly of the respiratory motile cilia. [HPO:probinson, MP:0011055]


Abnormal central microtubular pair morphology of respiratory motile cilia

A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. [HPO:probinson, PMID:19200523]


Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:probinson, PMID:19606528]


Abnormal axonemal organisation of respiratory motile cilia

Abnormal axonemal organization of respiratory motile cilia

Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. [HPO:probinson, PMID:19606528]


Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:skoehler, PMID:19606528]


Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:probinson, PMID:19606528]


Dynein arm defect of respiratory motile cilia

An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. [HPO:probinson, PMID:19606528]


Abnormal respiratory epithelium morphology

Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. [HPO:probinson, MP:0010942]


A structural anomaly of the respiratory system. [HPO:probinson]


An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. [HPO:probinson]


Anosmia for one particular odor. [HPO:probinson]


Development of the reproductive system is inconsistent with the chromosomal sex. [HPO:probinson, MP:0005652]


Anomaly of primary or secondary sexual development or characteristics. [HPO:probinson, MP:0002210]


Failure of development of some primary teeth

Failure of development of some deciduous teeth

Reduced number of primary teeth. [HPO:probinson]


The presence of multiple hemangiomas in the arachnoid. [HPO:probinson]


Non-caseating epithelioid cell granulomatosis

The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). [HPO:probinson]


Increased concentration of porphobilinogen in the urine. [HPO:probinson, PMID:11861450]


Vulvovaginal candidiasis occurring at least three times in one year.


An increase in the concentration of bile acid in the blood. [HPO:probinson]


An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. [HPO:probinson]


The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. [HPO:probinson, PMID:17768394, PMID:25022750]


Increased erythrocyte protoporphyrin concentration

An increased concentration of protoporphyrins in erythrocytes. [HPO:probinson, PMID:18760763]


Entrapment neuropathy of the ulnar nerve at elbow

An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand. [HPO:probinson]


Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. [HPO:probinson]


Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. [HPO:probinson]


A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. [HPO:probinson]


A functional anomaly of the natural killer cell. [HPO:probinson]


Habitual repetitive movement of the body. [HPO:probinson]


Habitual clasping and squeezing of the hands. [HPO:probinson]


A separation (dissection) of the layers of the common carotid artery wall. [HPO:probinson]


A separation (dissection) of the layers of the external carotid artery wall. [HPO:probinson]


Intracranial internal carotid artery dissection

A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall. [HPO:probinson]


Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. [HPO:probinson, PMID:20813998]


Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). [DDD:akelly]


Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic. [DDD:akelly]


Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. [DDD:akelly]


Reduced quantity of Von Willebrand factor

Decreased quantity of von Willebrand factor. [DDD:akelly]


Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. [DDD:akelly]


Abnormality of multiple cell lineages in the bone marrow


Abnormality of cells of the megakaryocyte lineage

Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. []


Abnormal number of granulocyte precursors


Abnormality of cells of the granulocytic lineage

Abnormal granulocytopoietic cell morphology

An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. [DDD:akelly]


A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. [DDD:akelly]


Abnormality of bone marrow stromal cells


Death of cells in the basal ganglia. [HPO:probinson]


Abnormal circulating albumin concentration

Deviation from normal concentration of albumin in the blood. [HPO:probinson]


Abnormality of circulating corticosterone level

Abnormal circulating corticosterone level

An abnormality of the concentration of corticosterone in the blood. [HPO:probinson]


Abnormality of circulating glucocorticoid level

An abnormality of the concentration of a glucocorticoid in the blood. [HPO:probinson]


Disproportionate shortening of the proximal segment of the leg (i.e. the femur). [HPO:probinson]


Atrophy of the occipital cortex. [HPO:probinson]


Atrophy of the parietal cortex. [HPO:probinson]


An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. [HPO:probinson]


A deviation from the normal number of mitochondria per cell. [HPO:probinson]


A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands. [HPO:probinson, PMID:16714456]


A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development. [HPO:probinson, PMID:16714456]


A deviation from the normal size of the pancreas. [HPO:probinson]


Abnormality of endocrine pancreas physiology

A function abnormality of the endocrine pancreas. [HPO:probinson]


An anomaly of the function of the pancreas. [HPO:probinson]


Abnormality of pancreas morphology
Abnormally shaped pancreas


An anomaly in the surface contour of mitochondria. [HPO:probinson, MP:0011633]


Abnormality of skeletal muscle fibre size

Abnormality of skeletal muscle fiber size

Any abnormality of the size of the skeletal muscle cell. [HPO:probinson]


Ubiquitin-positive cerebral inclusion bodies

Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. [HPO:probinson]


Atrophy of the cerebellum affecting primarily the Purkinje cell layer. [HPO:probinson]


Atrophy of the cerebellum affecting primarily the granular cell layer. [HPO:probinson]


Any anomaly of the conduction of motor nerve impulses in the central nervous system. [HPO:probinson, PMID:3572430]


Blockade of impulses at a focal site along the course of a motor axon. [HPO:probinson]


An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. [HPO:probinson, PMID:10870848]


An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. [HPO:probinson]


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


Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. [HPO:probinson]


Increased urinary disaccharide excretion

Increased concentration of disaccharide in the urine. [HPO:probinson]


Presence of multiple cystic changes in multiple areas or multiple bones. [HPO:probinson]


Low serum calcidiol
Low serum calcifediol
Decreased 25-hydroxyvitamin D3
Low serum 25-hydroxycholecalciferol

Decreased circulating calcifediol concentration

A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. [HPO:probinson]


Low serum 1,25-dihydroxyvitamin D3
Low serum 1,25-dihydroxycholecalciferol

A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. [HPO:probinson]


Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. [HPO:probinson]


Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. [HPO:probinson]


Abnormally increased concentration of cortisol in the urine. [HPO:probinson]


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


Abnormal circulating ornithine concentration

Deviation from the normal concentration of ornithine in the blood circulation. [HPO:probinson]


Elevated concentration of galactose in the blood. [HPO:probinson]


Persistence of blood flow through the ductus venosus for longer than the normal time after birth. [HPO:probinson, PMID:16449256]


EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. [HPO:jalbers]


EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. [HPO:jalbers]


EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. [HPO:jalbers]


EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. [HPO:jalbers]


EEG with focal sharp transient waves of a duration less than 80 msec in the central region. [HPO:jalbers]


EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]


EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]


EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]


EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]


EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]


A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation. [HPO:probinson, PMID:28276060]


Focal cognitive seizure with hallucination

A focal cognitive seizure characterized by hallucination as the initial semiological manifestation. [HPO:probinson, PMID:28276060]


Focal cognitive seizure with deja vu/jamais vu

A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. [HPO:probinson, PMID:28276060]


Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. [HPO:probinson]


EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. [HPO:jalbers]


Abnormally increased level of blood lactate following a meal. [HPO:probinson]


Impaired neutrophil bactericidal activity

A reduction in the ability of neutrophils to kill bacteria. [HPO:probinson]


An abnormal form or size of neutrophils. [HPO:probinson]


A functional abnormality of neutrophils. [HPO:probinson]


Formation of abnormal bony tissue within ligament tissue. [HPO:probinson]


Formation of abnormal bony tissue within tendon tissue. [HPO:probinson]


Formation of abnormal bony tissue within muscle tissue. [HPO:probinson]


A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones. [HPO:probinson, PMID:12950109]


A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates. [HPO:probinson, PMID:12950109]


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


Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. [HPO:probinson, PMID:2669624]


Increased circulating luteinizing hormone level

Elevated circulating luteinizing hormone level

An elevated concentration of luteinizing hormone in the blood. [HPO:probinson]


An increased concentration of citrulline in the blood. [HPO:probinson]


History of repeated intermittent involuntary muscle contractions that were painful. [HPO:probinson]


Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. [HPO:probinson, PMID:20514278]


Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [HPO:probinson, PMID:20514278]


Small pec muscle on one side
Underdeveloped pec muscle on one side

Unilateral hypoplasia of pectoralis major muscle

Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. [HPO:probinson]


An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. [HPO:probinson]


A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. [HPO:probinson, PMID:21481240]


The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. [HPO:probinson]


An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. [HPO:probinson]


Acute inflammation of the lung due to an infection. [DDD:tkuijpers]


A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. [HPO:probinson, PMID:9366584]


An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). [HPO:probinson]


A soft tissue continuity in the A/P axis between fingers 3 and 4. [HPO:probinson]


Small fifth toenail
Underdeveloped fifth toenail

Underdeveloped nails of the fifth toes. [HPO:probinson]


A decreased concentration of total carnitine in the blood. [HPO:probinson]


Decreased concentration of urate in the urine. [HPO:probinson]


Abnormality of the superior cerebellar peduncle

Abnormal superior cerebellar peduncle morphology

An anomaly of the superior cerebellar peduncle. [HPO:probinson]


An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. [HPO:probinson]


Hypersegmentation of proximal phalanx of third finger

Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. [HPO:probinson]


Developmental hypoplasia (shortening) of proximal phalanx of toe. [HPO:probinson]


One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. [HPO:probinson]


Decreased activity of mitochondrial ATP synthase complex

A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. [HPO:probinson]


Abnormal activity of mitochondrial respiratory chain

An increased or decreased activity of the mitochondrial respiratory chain. [HPO:probinson]


Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. [HPO:probinson]


Abnormal calcification in the cardiovascular system. [HPO:probinson]


Excessive, increased hair growth located in the thoracic region. [HPO:probinson]


Excessive, increased hair growth located in the lumbar region. [HPO:probinson]


An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. [HPO:probinson]


Abnormality of metacarpophalangeal joint

An anomaly of a metacarpophalangeal joint. [HPO:probinson]


Abnormal reduction in length affecting all phalanges. [HPO:probinson]


Abnormally flat shape of the heads of the metacarpal bones. [HPO:probinson]


Missing radius bone on one side only associated with congenital failure of development. [HPO:probinson]


A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. [HPO:probinson]


A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. [HPO:probinson, PMID:1060068]


Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. [HPO:probinson]


An abnormality of the level of activity of circulating fibrinogen. [DDD:akelly]


Impaired thromboxane A2 agonist-induced platelet aggregation

Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. [DDD:wouwehand]


Prolonged or protracted bleeding following an invasive procedure or intervention. [DDD:akelly]


Significant bleeding or hemorrhage without significant precipitating factor. [DDD:kfreson]


Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). [DDD:akelly]


Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. [DDD:akelly]


An anomaly of alpha or dense granules or platelet lysosomes. [DDD:wouwehand, PMID:18041654]


Decreased cell membrane concentration of P2Y12 receptor. [DDD:wouwehand, PMID:14755328]


Decreased cell membrane concentration of glycoprotein VI. [DDD:wouwehand]


Acute disseminated intravascular coagulation

An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed. [HPO:probinson]


Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. [DDD:wouwehand, PMID:10605725]


Abnormal platelet membrane protein expression

Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. [DDD:wouwehand]


Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. [HPO:probinson]


Impaired thrombin-induced platelet aggregation

Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). [DDD:wouwehand]


Impaired ristocetin-induced platelet aggregation

Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. [DDD:wouwehand]


Impaired arachidonic acid-induced platelet aggregation

Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. [DDD:wouwehand]


An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. [HPO:probinson]


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


Abnormal bone collagen fibril morphology

Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. [HPO:probinson, MP:0011642]


Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. [HPO:probinson]


Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac. [HPO:probinson]


Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. [HPO:probinson, PMID:18157903]


Short (hypoplastic) second metatarsal bone. [HPO:probinson]


Abnormal appendicular skeleton morphology

An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. [HPO:probinson]


Abnormality of skeletal morphology
Abnormally shaped skeletal

An abnormality of the form, structure, or size of the skeletal system. [HPO:probinson]


A functional anomaly of T cells. [HPO:probinson]


Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means. [HPO:probinson]


Delayed maturation and calcification of the talus. [HPO:probinson]


A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. [HPO:probinson]


Abnormality of mucosa of mouth
Abnormality of oral mucous membrane
Abnormality of lining of mouth
Abnormality of oral mucosa

Abnormality of the oral mucosa. [HPO:probinson]


Chin with horizontal crease
Chin with horizontal groove
Chin with horizontal sulcus
Horizontal menton crease
Horizontal chin skin cleft
Chin with horizontal furrow

Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. [PMID:19125436]


Increased width of menton region
Increased width of chin
Broad chin
Wide chin

Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. [PMID:19125436]


Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. [DDD:jhurst]


Partial thickness cleft soft palate
Submucous cleft velum

A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. [HPO:probinson]


Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. [HPO:probinson, PMID:4966739]


Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. [HPO:probinson, PMID:9531959]


A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart. [HPO:probinson]


A type of myotonia that worsens with repeated muscle contractions. [HPO:probinson, PMID:7678441]


Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. [HPO:probinson]


Issue with muscle structure
Abnormality of muscle morphology
Abnormally shaped muscle
Abnormal muscle morphology

A structural abnormality of a skeletal muscle. [HPO:probinson]


Issue with muscle function
Abnormality of muscle physiology

A functional abnormality of a skeletal muscle. [HPO:probinson]


Anomaly of facial soft tissue
Abnormality of facial soft tissue
Malformation of facial soft tissue
Deformity of facial soft tissue


The presence of an embryonal neoplasm of the kidney that primarily affects children. [DDD:rscott]


Neoplasm categorized according to the anatomical site of origin of the neoplasm. [DDD:rscott]


Neoplasm categorized according to type of histological abnormality. [DDD:rscott]


Inactivating thyroid-stimulating hormone receptor defect

Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. [DDD:spark]


Activating thyroid-stimulating hormone receptor defect

Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. [DDD:spark]


Thyroid-stimulating hormone receptor defect

Impaired sensitivity to thyroid stimulating hormone

Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). [PMID:28648507]


Absence of a lobe of the thyroid gland related to a failure of its embryologic development. [DDD:spark]


Abnormality of thyroid morphology
Abnormal shape of thyroid gland

A structural abnormality of the thyroid gland. [DDD:spark]


An abnormal anatomical location of the parathyroid gland. [DDD:spark]


Abnormal embryonic development of the parathyroid gland. [DDD:spark]


A functional abnormality of the parathyroid gland. [DDD:spark, HPO:probinson]

Abnormality of the parathyroid physiology


Abnormality of the parathyroid morphology

A structural abnormality of the parathyroid gland. [DDD:spark, HPO:probinson]


A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular. [DDD:spark, PMID:21886889]


Underdevelopment of the neurohypophysis. [DDD:spark]


Absence of the neurohypophysis owing to a developmental defect. [DDD:spark]


An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. [DDD:spark, HPO:probinson]


Neoplasm of the adenohypophysis
Neoplasm of the pars anterior

A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. [DDD:spark]


An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. [DDD:spark]


Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol. [HPO:probinson]


A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. [DDD:spark, HPO:probinson]