| Popcorn calcification (HP:6000871) |
Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate. |
| Elevated CSF 5-hydroxyindoleacetic acid concentration (HP:6000823) |
The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. |
| Recent history of sedation by propofol infusion (HP:6000883) |
A history of exposure to anesthesia by propofanol infusion recently before the presenting complaint. |
| Amyloid goiter (HP:6000815) |
Amyloidosis is defined as the accumulation of amorphous, proteinaceous material in different parts of the body. Amyloid can be deposited in the thyroid gland in such quantities to cause a clinically apparent enlargement of the gland known as Amyloid goiter. |
| Eschar (HP:6000793) |
A type of wound characterized by dry, black, hard necrotic tissue. |
| Megacolon (HP:6000852) |
Persistent and substantial increase in diameter diameter and length of the colon. |
| Enlarged distal tibial epiphysis (HP:6000886) |
Size (volume) of the distal epiphysis of the tiba above the upper limit of normal. |
| Proximal radioulnar joint dislocation (HP:6000890) |
he proximal radioulnar translocation means that both the radius and ulna are dislocated from the humerus. |
| Anti-DCC netrin 1 receptor antibody positivity (HP:6000881) |
The presence of autoantibodies in the serum that react against Netrin-1 receptors DCC (deleted in colorectal carcinoma). |
| Periumbilical depression (HP:6000808) |
The tissue that immediately surrounds the umbilicus is located below the normal plane of the abdomen. |
| Positive bloodstream HIV p24 antigen test (HP:6000798) |
Demonstration of the p24 antigen of human immunodeficiency virus in the bloodstream. |
| Gastric carcinoid tumor (HP:6000898) |
Originating from enterochromaffin-like cells, gastric carcinoid tumors are rare tumors that develop within the gastric mucosa. They can present as an isolated lesion or there can be multiple lesions. The tumor can invade locally into deeper structures of the gastrointestinal tract wall. Solitary gastric carcinoids have a greater chance for the development of malignancy and metastasis as compared to multiple gastric carcinoids due to hypergastrinemia. |
| Elevated circulating beta-glucuronidase activity (HP:6000819) |
The activity of beta-glucuronidase (EC 3.2.1.31) in the blood circulation is above the upper limit of normal. |
| Positive Quantiferon tuberculosis test (HP:6000799) |
A positive Quantiferon test result indicating Mycobacterium tuberculosis. The Quantiferon assay is designed to stimulate IFN-gamma release from CD4+ T cells in a single tuberculosis antigen tube using long peptides from three M. tuberculosis antigens. |
| Elevated urinary phosphohydroxylysine level (HP:6000806) |
The amount of phosphohydroxylysine in the urine, normalized for urine concentration, is above the upper limit of normal. |
| Positive lacrimal tract actinomyces culture (HP:6000792) |
Growth of Actinomyces israelii (anaerobic filamentous gram positive) culture of lacrimal discharge or concretions. |
| Elevated urine fructose level (HP:6000804) |
Amount of fructose in the urine above the upper limit of normal. |
| Temporomandibular joint dislocation (HP:6000814) |
The lower jawbone (mandible) pulls away from the temporomandibular joints (TMJ). It is characterized by pain, clicking and functional restriction. |
| Decreased circulating sulfate concentration (HP:6000854) |
The concentration of sulfate in the blood circulation is below the lower limit of normal. |
| Pancreatic VIPoma (HP:6000897) |
A type of neuroendocrine tumor that originates in the pancreas and secretes excessive amounts of vasoactive intestinal peptide (VIP). |
| Beaded bile ducts (HP:6000846) |
Multifocal intra- and extra-hepatic bile duct strictures alternating with normal caliber or slightly dilated segments, resembling beads on a string. |
| Thickened cortex of the ulna (HP:6000812) |
Abnormally increased thickness of the cortical layer of the ulna. |
| Enlarged radial head (HP:6000885) |
Size (volume) of the head of the radius above the upper limit of normal. |
| Toe hyperphalangy (HP:6000868) |
Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a toe. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. |
| Cerebrospinal fluid eosinophilia (HP:6000824) |
Presence of at least 10% eosinophils in the total cerebrospinal fluid (CSF) leukocyte count. |
| Anti-dachshund family transcription factor 1 antibody positivity (HP:6000877) |
The presence of autoantibodies in the serum that react against dachshund-homolog 1 (DACH1) autoantigen. |
| Reduced C27 3beta-HSD activity in cultured fibroblasts (HP:6000825) |
Concentration or activity of 3beta-hydroxy-delta5-C27-steroid oxidoreductase (C27 3beta-HSD) as measured in cultured fibroblasts is below the limits of normal. |
| Elevated osmolality gap (HP:6000820) |
Plasma osmolality is determined mainly by Sodium, its counter ions, and uncharged species such as Glucose and Urea. Knowledge of the plasma concentration of these species allows calculation of the plasma osmolality quite accurately. If the difference between the measured osmolality (MO) and calculated osmolality (CO) is known as the osmolar gap (OG) is large (greater than 15) osmolar gap can help identify the presence in plasma of substances such as ethanol, methanol, isopropanol, ethylene glycol, propylene glycol.. |
| Positive CSF mycobacterial culture (HP:6000835) |
Growth of mycobacteria in a culture derived from cerebrospinal fluid (CSF). |
| Cardiac mass (HP:6000847) |
An abnormal enlargement or swelling localized in the heart. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. |
| Nonexudative conjunctivitis (HP:6000843) |
A type of conjunctivitis that is not characterized by appreciable exudate, i.e., fluid, cells, or other substances that have escaped from blood vessels and have been deposited around the eyelids. |
| Symmetric distribution (HP:6000857) |
Applies to an abnormality that is highly similar on the left and right sides of the body. |
| Elevated urine bismuth level (HP:6000888) |
Detection of a level of bismuth in the urine high enough to raise the suspicion of bismuth toxicity, usually greater than 20microgram per deciliter. |
| Dermal foam cells (HP:6000859) |
Presence of lipid-laden macrophages (foam cells) in the inner layer of the skin (dermis). |
| Exacerbated by pronation (HP:6000790) |
Applied to a sign or symptom that is aggravated by (or made more painful by) pronation. Pronation of the hand involves the rotation of the forearm and wrist so that the palm of the hand faces downwards or towards the back (posteriorly). |
| Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio (HP:6000813) |
Aspartate aminotransferase to alanine aminotransferase ratio increased greater than 1.5. |
| Long-bone fracture (HP:0025736) |
A partial or complete breakage of a lone bone (e.g., the femur, tibia, fibula, humerus, radius, and ulna). |
| Sclerotic ilium (HP:6000869) |
An elevation in bone density in the ilium. Sclerosis is normally detected on a radiograph as an area of increased opacity. |
| Breast apocrine adenoma (HP:6000895) |
A type of breast adenoma composed of benign apocrine cells. |
| Positive respiratory tract nucleic acid pathogen test (HP:6000836) |
Positive (abnormal) result of a sputum or pharyngeal sample test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. |
| Hyperkalemia while symptomatic (HP:6000833) |
Increased concentration of potassium in the blood circulation specifically measured during a disease flareup, attack, or exacerbation. |
| Multiple eyelid beaded papules (HP:6000842) |
Multiple beaded papules along the eyelid margins and inner canthus. |
| Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test (HP:6000837) |
Detection of SARS-CoV-2 coronavirus nucleic acid in the sputum or pharyngeal sample by a method such as polymerase chain reaction. |
| Wide sacroiliac joint (HP:6000875) |
Distance between the sacrum and the ilium bones of the pelvis at the sacroiliac joint is above the upper limit of normal. |
| Muscle extensor surface location (HP:6000858) |
Applies to an abnormality that is situated in extensor surface of an extremity. |
| Thickened femoral cortex (HP:6000810) |
Abnormally increased thicknes of the cortical layer of the femur. |
| Elevated blood bismuth concentration (HP:6000887) |
The concentration of bismuth in the blood is above the upper limit of a guidance value for total blood bismuth concentrations that implies possible injurious effects. |
| Fibrocystic breast lesion (HP:6000896) |
A type of benign cyst or cysts in breast tissue that are typically mobile within the glandular breast tissue, chest wall, and skin and are rubber-like in texture. The main histological features are an extracellular matrix of collagen, peri canalicular patterns of stromal cells with the presence of florid epithelial hyperplasia. |
| Delayed tibial epiphyseal ossification (HP:6000867) |
Developmental delay of ossification of an epiphysis of the tibia. |
| Delayed ossification of the clavicle (HP:6000874) |
Delayed maturation and calcification of the clavicle. |
| Elevated urinary 2,8-dihydroxyadenine level (HP:6000803) |
The amount of 2,8-dihydroxyadenine in the urine, normalized for urine concentration, is above the upper limit of normal. |
| Diminished tissue glycogen branching enzyme activity (HP:6000861) |
Activity of glycogen branching enzyme in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. |
| Thyroid cyst (HP:6000853) |
A fluid-filled sac or cavity that develops due to fluid accumulation within the thyroid tissue. |
| Horizontal position of testicle (HP:6000839) |
The Bell Clapper deformity is one of the causes for the testicular torsion. In this condition, testis lacks a normal attachment to tunica vaginalis and hangs freely, causing it to sit horizontally rather than vertically in the scrotum. |
| Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts (HP:6000830) |
Concentration or activity of the alpha-ketoglutarate dehydrogenase complex as measured in cultured fibroblasts is below the limits of normal. This enzyme is a multienzyme complex consisting of 3 protein subunits, oxoglutarate dehydrogenase, also known as alpha-ketoglutarate dehydrogenase or E1k (EC 1.2.4.2.), dihydrolipoyl succinyltransferase (DLST, or E2k; 126063), and dihydrolipoyl dehydrogenase (DLD, or E3; 238331). The complex catalyzes a key reaction in the Krebs tricarboxylic acid cycle. |
| Gaucher cells (HP:6000893) |
Glucosylceramide forms fibrillar aggregates that accumulate in macrophages and result in the cell cytoplasm presenting a characteristic crumpled tissue paper appearance. These cells, known as Gaucher cells, infiltrate various organs (e.g., bone marrow, spleen, and liver) and are responsible for the major signs of Gaucher disease. |
| Basilar artery fenestration (HP:6000787) |
A fenestration affecting the basilar artery. Basilar fenestration typically occurs at the lower end of the basilar artery just as the vertebral arteries join Fenestrations of intracranial arteries are segmental duplications of the lumen into two distinct endothelium-lined channels, which may or may not share their adventitial layer. They can range from a small focus of divided tissue to long-segment duplication. Fenestrations are the result of partial failure of fusion of paired primitive embryologic vessels or incomplete obliteration of different anastomosis in a primitive vascular network. The association of fenestrations with aneurysms has been suggested in many small case series, though the exact relationship is not well defined. |
| Anti-potassium channel tetramerization domain containing 16 antibody positivity (HP:6000878) |
The presence of autoantibodies (immunoglobulins) in the blood circulation that react against potassium channel tetramerization domain containing 16 (KCTD16). |
| Tzanck smear with multinucleated giant cells (HP:6000800) |
Tzanck smear demonstrates multinucleated giant cells, a sign that is suggestive for herpetic infections. Such smears are taken from skin lesions and display multinucleated cells with ground glass nuclei, nuclear moulding, and margination of nuclear chromatin typical of herpes simplex and varicella infection. |
| Displacement of the extensor tendon in metacarpophalangeal joint (HP:6000788) |
Dislocation of the extensor tendons from their central position on the metacarpal heads can be traumatic, congenital, spontaneous, or degenerative. |
| Metaphyseal chevron deformity (HP:6000870) |
The chevron sign refers to an inverted V-shape metaphyses. It is most commonly seen in the distal femur and tends to disappear with age. |
| Reduced tissue peptidase D activity (HP:6000828) |
Concentration or activity of Peptidase D (EC 3.4.13.9; also known as prolidase, imidodipeptidase, proline dipeptidase, and aminoacyl-L-proline hydrolase) below the lower limit of normal. The activity of this enzyme can be measured in erythrocytes, leukocytes, or fibroblasts. |
| Anti-Glutamate Receptor delta2 antibody positivity (HP:6000876) |
The presence of autoantibodies in the serum that react against glutamate receptor delta2. |
| Abnormal scleral thickness (HP:6000841) |
Any deviation from the normal height of the sclera, the white part of the eye that forms the tough, fibrous outer layer of the exterior of the eyeball. |
| Elevated urinary gamma-glutamylcysteine level (HP:6000834) |
The amount of gamma-glutamylcysteine in the urine, normalized for urine concentration, is above the upper limit of normal. |
| Thickened cortex of the radius (HP:6000811) |
Abnormally increased thickness of the cortical layer of the radius. |
| Anti-regulator of G protein signaling 8 antibody positivity (HP:6000879) |
The presence of autoantibodies in the serum that react against regulator of G-protein signaling 8 (RGS8). |
| Cervical C6/C7 vertebrae fusion (HP:6000807) |
Fusion of cervical vertebrae at C6 and C7, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. |
| Elevated serum-ascites albumin gradient (SAAG) (HP:6000863) |
An elevation of the serum ascites albumin gradient (SAAG), which is based on the difference between the albumin level of serum and of ascitic fluid, may be used to assess the extent of ascites. The SAAG is thought to reflect the colloid osmotic pressure gradient and the degree of portal hypertension. It has been shown that SAAG is a better discriminator of portal hypertension than ascites. A SAAG of 1.1 gm/dL or higher is considered as high, indicating the presence of portal hypertension, while SAAG less than 1.1 gm/dL is low, indicating the absence of portal hypertension. |
| Distal radioulnar joint dislocation (HP:6000889) |
Distal radioulnar joint dislocation is more commonly displaced dorsally (i.e. the distal ulna is dorsally dislocated with respect to the distal radius), but can be volarly displaced. |
| Absent superficial temporal artery pulse (HP:6000786) |
The pulsation of the superficial temporal artery cannot be detected on physical examination. |
| Absent toe phalanx flexion crease (HP:6000891) |
Absence of one or more interphalangeal creases of a toe (i.e., of the transverse lines in the skin between the phalanges of the toes). |
| Positive fecal cryptosporidium antigen test (HP:6000838) |
Cryptosporidium antigen present in stool. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens. |
| Transverse terminal limb defect (HP:6000818) |
A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. |
| Positive bloodstream rapid plasma reagin test (HP:6000797) |
Positive result of the the rapid plasma reagin test (RPR test. This is a rapid diagnostic test that looks for non-specific antibodies in the blood of the patient that may indicate an infection by syphilis or related non-venereal treponematoses. |
| Reduced tissue phosphorylase kinase activity (HP:6000832) |
Concentration or activity of phosphorylase kinase below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. |
| Reduced tissue glycine cleavage enzyme activity (HP:6000829) |
Concentration or activity of the glycine cleavage enzyme below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. |
| Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts (HP:6000826) |
Concentration or activity of procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1; also known as Lysyl hydroxylase; EC 1.14.11.4) as measured in cultured fibroblasts is below the limits of normal. PLOD1 catalyzes the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences, by the hydroxylation of lysine residues in X-lys-gly sequences. |
| Hyperphalangy of the 4th finger (HP:6000865) |
An accessory phalanx of the fourth (ring) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. |
| White matter globoid cells (HP:6000892) |
Multinucleated phagocytes in the cerebral white matter, typically are 10-15 micrometers in diameter, that contain fatty filamentous inclusions that stain positive for periodic acid-Schiff (PAS), which may be phagocytized myelin, as these cells are often found in proximity to sites where demyelination is prominent. Globoid cells have been to thought to originate from CNS resident microglia and/or infiltrating peripheral macrophages. |
| Elevated circulating bile alcohol concentration (HP:6000821) |
The concentration of bile alcohols in the blood circulation is above the upper limit of normal. |
| Bowdler spurs (HP:6000873) |
Transverse long bone midshaft spurs or osteochondral projections typically occuring in the fibulae and less commonly in the forearms. |
| Transverse smile (HP:6000864) |
Inability to raise the corners of the mouth during the act of smiling due to facial muscle weakness. The act of smiling is accompanied by a horizontal movement of the mouth. |
| Positive Mazzotti test (HP:6000801) |
Locally applied 1.6 percent diethylcarbamazine citrate in Nivea lotion can be used as a diagnostic test for onchocerciasis. Papular reactions are considered as positive test results. |
| Vascular compression of the eighth cranial nerve (HP:6000845) |
A condition in which blood vessels adjacent to the eighth cranial nerve (vestibulocochlear nerve) such as the anterior inferior cerebellar artery abnormally contact or compress the vestibulocochlear nerve as it exits the brainstem or travels within the cerebellopontine angle. |
| Diminished tissue fumarylacetoacetate hydrolase activity (HP:6000827) |
Concentration or activity of fumarylacetoacetate hydrolase (FAH; EC 3.7.1.2) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. |
| Breast adenoma (HP:6000894) |
A benign, well circumscribed neoplasm that arises from the breast. |
| Heloma (HP:6000789) |
A corn, also known as a clavus, heloma, or focal intractable plantar hyperkeratosis, is a type of callosity. Corns are uncomfortable, thickened skin lesions that result from repeated mechanical trauma due to friction or pressure forces. |
| Basilar meningeal enhancement (HP:6000851) |
Abnormal enhancement of CT or MIR contrast medium in the basilar meninges, that is, those located in the basal cisterns or spaces at the base of the brain, due to increased permeability of blood vessels in these areas. |
| Aplasia/Hypoplasia of the calvaria (HP:6000872) |
A developmental defect characterized by absence or underdevelopment of the calvaria. |
| Delayed distal femoral epiphyseal ossification (HP:6000866) |
Developmental delay of ossification of the distal epiphysis of the femur. |
| Prominent lesser trochanter (HP:6000816) |
Abnormally large lesser trochanter. |
| Anti-neurochondrin antibody positivity (HP:6000880) |
The presence of autoantibodies in the serum that react against neurochondrin . |
| Cold intolerance (HP:6000855) |
The inability to maintain a comfortable body temperature in a cold environment or cold temperatures. |
| Nematode in retina (HP:6000844) |
Demonstration of a nematode (roundworm) in the retina, generally by an imaging procedure such as fundoscopy. |
| Diminished tissue very long-chain acyl-CoA dehydrogenase activity (HP:6000860) |
Diminished activity of Very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme that catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. VLCAD activity can be measured with biochemical testing using cultured fibroblasts or lymphocytes. |
| Distortion of the anterior part of the interhemispheric fissure (HP:6000791) |
Change in the normal shape (displacement, asymmetry) of the anterior part of the interhemispheric fissure. This finding can be identified prenatally by sonography or magnetic resonance imaging. |
| Thickened tibial cortex (HP:6000809) |
Abnormally increased thicknes of the cortical layer of the tibia. |
| History of wearing tightly fitted clothing (HP:6000794) |
History of wearing tight clothing such as compression shorts, sports bras, bike shorts, wet suits, spandex, veils, and tight hats. |
| Superior olive hypertrophy (HP:6000848) |
Abnormal increase in size of the superior olive, also known as the superior olivary complex. The superior olive is a collection of brainstem nuclei that is located in pons, functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system. |
| Abnormal third cranial nerve morphology (HP:0025735) |
Any structural abnormality of the third (oculomotor) cranial nerve. |
| Enlarged humeral head (HP:6000884) |
Size (volume) of the head of the humerus above the upper limit of normal. |
| Positive bloodstream Tropheryma whippelii nucleic acid test (HP:6000802) |
Detection of nucleic acid of Tropheryma whippelii in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. |
| Anti-recoverin antibody positivity (HP:6000882) |
The presence of autoantibodies in the serum that react against recoverin. Recoverins are calcium-binding proteins primarily expressed in retinal rod photoreceptors and primarily involved in phototransduction. |
| Temporal cortex localization (HP:6000850) |
Localization to or predominance in the temporal cortex of the brain. |
| Increased circulating dihydroxycholestanoic acid concentration (HP:6000831) |
The concentration of dihydroxycholestanoic acid (DHCA) in the blood circulation is above the upper limit of normal. |
| Localized soft-tissue swelling on extremity (HP:6000840) |
Abnormal enlargement (swelling) that is restricted to a specific part of a limb. |
| Head and neck distribution (HP:6000856) |
Applies to an abnormality that is situated in (or predominant in) the head and neck region. |
| Melorheostosis (HP:6000817) |
Regions of sclerosing hyperostosis in the cortex of long bones, which might have a radiologic appearance of dripping candle wax. |
| Parotid adenoma (HP:6000862) |
A benign tumor of the parotid salivary gland. |
| Elevated CSF tetrahydrobiopterin level (HP:6000822) |
Concentration of tetrahydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal. |
| Anti-folate receptor antibody positivity (HP:6000795) |
The presence of autoantibodies (immunoglobulins) in the serum that react against the folate receptor in the blood circulation. |
| Elevated urinary uroporphyrin level (HP:6000805) |
The amount of uroporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. |
| Positive bloodstream VDRL test (HP:6000796) |
An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in peripheral blood, suggesting past or present syphilis. |
| Spinal extradural arachnoid cyst (HP:6000849) |
Spinal extradural arachnoid cyst is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. |
