A condition in which hypoglycemia is accompanied by ketosis. This condition may be a manifestation of another condition such as glycogen storage disease, ketone utilization defects, growth hormone deficiency, or cortisol deficiency.


A form of hyperaldosteronism caused by abnormally increased renin levels. [DDD:spark]


Calcification within the adrenal glands. [HPO:probinson]


Mild hypothyroidism
Compensated hypothyroidism

Hypothyroidism characterized by elevated thyroid-stimulating hormone (TSH) with normal circulating concentrations of thyroid hormones.


Abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis.


An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism.


A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. [DDD:spark, PMID:19328421]


Hypochromic microcytic anemia
Hypochromic, microcytic anaemia
Hypochromic, microcytic anemia

anemia featuring pale erythrocytes smaller than 6 microns in diameter; typically due to iron deficiency or abnormalities in hememetabolism.


A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. [HPO:probinson]


A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. [HPO:probinson]


A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. [HPO:probinson]


Impaired egress of mature neutrophils from bone marrow causing neutropenia. [PMID:10607719, PMID:25662009]


A type of agranulocytosis related to ingestion of a specific medication. [HPO:probinson]


A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.

Transient hypogammaglobulinemia of infancy


A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease.


Thrombocytopenia with congenital onset. [HPO:probinson]


A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications.


A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.


Antithrombin III deficiency
Anti-thrombin III deficiency
Reduced antithrombin III activity

An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis.


Tonsillar hypertrophy
Enlargment of tonsils
tonsils large/hypertrophy

Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. [HPO:probinson]


An abscess that develops in a lymph node and the surrounding tissues as a result of an infectious process. The affected lymph node is palpable and tender.


A closed sac located in the spleen. [HPO:probinson, PMID:24794024]


An abscess that is located in the spleen.


More than one fracture of the ribs. [HPO:probinson]


A partial or complete breakage of the sternal end of clavicle. []


Fractured foot bone
Broken foot
bone pes

A traumatic break in one or more of the bones in the foot.


An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4)


Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. [HPO:ucbasharo]


Lung infections with the invasive forms of ASPERGILLUS, usually after surgery, transplantation, prolonged NEUTROPENIA or treatment with high-doses of CORTICOSTEROIDS. Invasive pulmonary aspergillosis can progress to CHRONIC NECROTIZING PULMONARY ASPERGILLOSIS or hematogenous spread to other organs.


A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs. [PMID:20092423, PMID:29861637]


Extreme fatigue; inability to respond to stimuli.


Premature closure of fontanelles
Obliterated fontanelles

Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. [DDD:awilkie, HPO:probinson]


Broad late closing cranial sutures
Open sutures
Delayed fontanelle closure
Delayed cranial suture closure
Delayed closure of fontanel
Late closure of fontanelle
Delayed closure of the fontanelles
Late-closing fontanelle
Delayed closure of fontanels
Late closing fontanelles
Delayed closure of fontanelles

Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. [HPO:probinson]


A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. [PMID:11813951, PMID:20229121]


Enlargement of the nostrils during breathing; although there are many possible causes, it can be a sign of respiratory distress in young infants.


Reduced systolic blood pressure
Decreased systolic BP

Systolic blood pressure that is abnormally low.


Reduced diastolic blood pressure
Decreased diastolic blood pressure

Diastolic blood pressure that is abnormally low.


The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination. []


An erythematous eruption on the central face, which can be caused by a variety of different conditions.


Hair shafts are rough in texture. [HPO:probinson]


Hair that lacks the lustre (shine or gleam) of normal hair. [DDD:cmoss]


Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. [HPO:probinson]


The appearance of the urine having visible material in suspension, i.e., appearing cloudy. []


Abnormal urine smell
Abnormal urinary odor

A deviation from the normal odor of the urine. [HPO:probinson]


Diminished mental health
Mental impairment

A change to an individual's judgment, orientation (to place, time, and self), intellectual functioning, or mood from their baseline.


Inability to ejaculate. [HPO:probinson, PMID:24528812]


A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. [HPO:probinson]


A sensation of discomfort or distress that is non-specific or without clear boundaries.


Mimic spasms
Jerking of facial muscles
Cramping of facial muscles
Facial tics
Facial spasms

Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. [DDD:cwright]


Spasms on one side of the face
Hemifacial spasm

Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)


Visual aura
Partial visual seizure
Visual auras
Focal visual seizure

A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. [HPO:jalbers]

Focal sensory seizure with visual features


Focal sensory seizure with olfactory features

Seizures characterized by olfactory phenomena as its first clinical manifestation. [HPO:jalbers]


Focal sensory gustatory seizure
Partial gustatory seizure
Taste hallucinations
Focal gustatory seizure
Gustatory aura
Gustatory auras

A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. [HPO:jalbers, PMID:28276060]

Focal sensory seizure with gustatory features


Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles. [PMID:30480980]


An adenocarcinoma arising from the stomach glandular epithelium. Gastric adenocarcinoma is primarily a disease of older individuals. It most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter pylori infection. The lack of early symptoms often delays the diagnosis of gastric cancer. The majority of patients present with advanced tumors which have poor rates of curability. Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type. The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a "curative" resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999).


An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.


An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.


A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma.


The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.

Transitional cell carcinoma of the bladder


A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.


Lung carcinoid tumor
Lung carcinoid tumour
Pulmonary carcinoid tumor

A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis.


A benign, immature, or malignant teratoma arising from the ovary.


A squamous cell carcinoma arising from the oropharynx. It predominantly affects adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with locally advanced disease. Signs and symptoms include mucosal ulceration, pain, bleeding, weight loss, neck swelling, and difficulty speaking, chewing, and swallowing. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.


An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.


A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.


A squamous cell carcinoma that arises from the vulva. It is classified as human papillomavirus-related or human papillomavirus-independent. When p16 immunohistochemistry or HPV testing is not available, the morphological diagnosis of squamous cell carcinoma, not otherwise specified is acceptable.


An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma.


An electrocardiographic finding suggestive of enlargement or thickening of both ventricles, with a combination of findings which are related to LVH and RVH, such as voltage criteria for LVH in the presence of marked right axis deviation. (CDISC)


An abnormality of the fallopian tube. [HPO:probinson]


A partial or complete breakage of the tarsal bone. []


Tissue that develops between the vocal cords.


A partial or complete breakage of the calcaneus. []


The presence of leukocytes in the urine without evidence of an infection. (ACC-AHA)


Cutis aplasia
Absence of part of skin at birth
Congenital absence of skin

Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation.


Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA.


A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. [DDD:gblack, PMID:12015282]


A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. []


Bone marrow maturation arrest
Haematopoietic maturation arrest

Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. []


A type of cataract that is not apparent at birth but that arises in childhood or adolescence. [HPO:probinson]


Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children.


A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead. []


A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. -- 2003


Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. [HPO:probinson, PMID:18825677]


Larger than normal size of erythrocytes. [HPO:probinson]


A goiter that is not associated with functional thyroid abnormalities. [HPO:probinson]


Spiegler-Fendt sarcoid
Skin pseudolymphoma


A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure.


A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as DIABETES; HYPERTENSION; and METABOLIC SYNDROME.


Generalized convulsive status epilepticus

A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. [ORCID:0000-0002-1735-8178, PMID:26336950]

Generalised convulsive status epilepticus


A rare genetic retinal dystrophy with characteristics of the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.


Walking disability
Difficulty in walking


leg pain and weakness brought on by walking


Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice.


Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. [ICM:PCaroppo]


An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable []


The time between sunrise and sunset while it is light.


Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length. []


Coming at short intervals or in great quantities.


Dominant use or manifestations of one side of the body versus the other; referring to a side of the body or of a structure.


A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. []


A small, solid, usually inflammatory elevation of the skin that does not contain pus


A flat lesion characterized by change in the skin color.


A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. [PMID:17143977]


A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. [HPO:probinson]


Leprechaun facies
Elf-like facial appearance
Elfin facies

This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. [HPO:probinson]


Myopathic face
Myopathic facial appearance

A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. [HPO:curators]


A type of fracture in which the break is in a straight line across the bone. []


A type of fracture in which there is a diagonal break across the bone. []


A type of fracture in which the break spirals around the bone. []


A type of fracture in which the broken bone is not completely separated. []


A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone. []


A bone fracture that is taking an abnormally long time to heal.


Tearing away of the CORTICAL BONE fragment at the location of a strong ligament or tendon attachment. The bone fragment detachment site often occurs near a soft site (e.g., GROWTH PLATE) at the base where LIGAMENTS; TENDONS; or JOINT CAPSULES attach. In younger patients it is most often caused by a sudden forceful pull on a tendon in the opposite direction of the bone movement. In the elderly it is associated with osteoporotic INSUFFICIENCY FRACTURES.


Partial or incomplete displacement of an articulation.


The abnormal fusion of neighboring bones across a joint. [HPO:probinson]


Dislocation of many joints. [HPO:probinson]


Congenital joint contractures
congenital contractures

One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. [HPO:probinson]


A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it.


Renal calculi with a characteristic shape like antlers of a deer, formed as it extends into multiple calices of the RENAL PELVIS. A large number of staghorn calculi as well as other URINARY CALCULI are composed of STRUVITE.


Flexion contractures
Flexion contractures of joints
Flexion contracture

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [HPO:probinson]

Flexed joint that cannot be straightened


A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. [PMID:26079824]


A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black. []


Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection. []


Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. [ORCID:0000-0002-4095-8489, PMID:31751017]


An ulcer of the colon due to pressure and irritation from retained fecal masses. [ORCID:0000-0001-5208-3432, PMID:7065551]


A granuloma that is not associated with necrotic changes. The majority of cases are of non-infectious origin. Causes include sarcoidosis, hypersensitivity pneumonitis, drug reactions, and Crohn disease.


Colloid bodies of Civatte
Hyaline bodies
Cytoid bodies
Colloid bodies

Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant [PMID:23919028]


Electron-dense granules within double membrane-bound cytoplasmic vacuoles. [PMID:22073234]


plaques consist of amyloid deposits surrounded by a web of astrocytic processes, swollen neurites, and neuron terminals; seen in the cerebral cortex in Alzheimer's disease.


Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV. [PMID:8181179]


Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections. [PMID:27031798]


Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. [KPMP:arosenberg]


Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. [LMU:mgriese, PMID:24224590]


Hemiatrophy of the body
Asymmetric limb shortening

Undergrowth of the limbs that affects only one side. [DDD:hfirth]


Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders. [HPO:sdoelken]


A round basophilic inclusion body that contains calcium and iron. It is found in the bladder wall of patients with malakoplakia.


An intraneuronal inclusion body composed of acid mucopolysaccharides. [HPO:sdoelken]


Muscle fiber degeneration
Muscle fibre degeneration
Muscle fiber atrophy


Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. [HPO:sdoelken]


Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images. [PMID:28499424]


A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). [PMID:15054821, PMID:21250106]


Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). [HPO:probinson]


An anemic condition which results from a lack hemoglobin within erythrocytes.


The reaction of red cells to stain as indicated by the appearance of bluish or grayish colored erythrocytes.


Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). [PMID:10400105, PMID:17368236]


Rough, dry, hypertrophic eruption of the skin associated with vitamin A deficiency.


Osteomatosis
Cutaneous osteosis
Miliary osteoma

Heterotopic ossification of the skin not associated with a preexisting lesion or process, such as inflammation or neoplasia.


A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.


A hamartoma characterized by localized malformation of one or more of the components of the dermis; presenting as clustered, slightly raised, pea-sized lesions distributed over the abdomen, back, buttocks, arms, or thighs. It may be an isolated lesion or a component of one of a number of inherited disorders, such as tuberous sclerosis.


Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. [PMID:10606860]


The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern. [PMID:21502911, PMID:30363608]


A benign neoplasm arising from the outer hair sheath and infundibulum. It occurs in the head and neck, usually on the face. It usually presents as an exophytic wart-like lesion or a dome-shaped lesion with smooth surface. Multiple facial lesions are usually associated with Cowden disease.


Ceruminoma
Ceruminous adenoma
Adenoma of the ceruminous gland

A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.


An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.


A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.


A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis.


A WHO grade 1, relatively circumscribed, slowly growing, often cystic astrocytoma occurring in children and young adults. Histologically it is characterized by a biphasic pattern with compacted bipolar cells associated with Rosenthal fibers and multipolar cells associated with microcysts and eosinophilic bodies/hyaline droplets. (WHO)


A WHO grade 2 astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.


Extensive and diffuse infiltration of tissues by ganglioneuroma.


Hormonally silent pituitary adenoma
Non-functional pituitary adenoma
Pituitary null cell adenoma
Clinically silent pituitary adenoma

A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome.


An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


Inflamation of the brain related to infection by an enterovirus. []


The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.


A progressive loss of the ability to remember the meaning of words, faces and objects. [ICM:PCaroppo, PMID:24966676]


A loss of myelin from nerve fibers in the central nervous system. [HPO:probinson]


A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms.


Underdeveloped optic nerves
Hypoplastic optic nerves

A congenital abnormality characterized by the underdevelopment of the optic nerve.


A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.


An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses. [ORCID:0000-0002-1735-8178, PMID:29923367]


Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.


A syndrome characterized by a transient loss of the ability to form new memories. It primarily occurs in middle aged or elderly individuals, and episodes may last from minutes to hours. During the period of amnesia, immediate and recent memory abilities are impaired, but the level of consciousness and ability to perform other intellectual tasks are preserved. The condition is related to bilateral dysfunction of the medial portions of each TEMPORAL LOBE. Complete recovery normally occurs, and recurrences are unusual. (From Adams et al., Principles of Neurology, 6th ed, pp429-30)


Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae.


Interference or disruption of cognitive processes. This term encompasses a large number of problems and issues associated with intellectual functioning and information processing. 2005


Addiction to a benzodiazepine. [ORCID:0000-0002-4095-8489, PMID:28790493]


Ankyloblepharon
Adhesion of eyelids
Eyelid synechiae

Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. [PMID:18125427]


A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. [HPO:probinson, PMID:24600153]


An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.


This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. [HPO:probinson]

Polymorphous posterior corneal dystrophy


A puncture or hole through the CORNEAL STROMA resulting from various diseases or trauma.


A cataract that affects the capsule of the lens. [HPO:probinson]


A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. [PMID:10379021, PMID:16120862]


Parafoveal telangiectasia
Juxtafoveal telangiectasia


Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers. [PMID:28058169, UManchester:psergouniotis]


Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels. [PMID:30570991, UManchester:psergouniotis]


Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.


Static congenital hemeralopia
Night blindness, congenital stationary
Congenital night blindness
Congenital stationary night blindness

A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. [HPO:probinson]


Blue cone monochromatism
Incomplete achromatopsia
S-cone monochromacy

A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. [HPO:probinson]


Macular pucker
Premacular fibrosis
Epiretinal membrane

A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) RETINAL PIGMENT EPITHELIUM. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the FOVEA CENTRALIS. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with RETINAL HOLES, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)


An astrocytoma that arises from the retina. It is often found in association with the tuberous sclerosis complex.


A congenital patch of hypertrophic, benign retinal pigment epithelial cells containing macromelanosomes. The lesions are typically asymptomatic and are found incidentally during ophthalmoscopy. (WHO 2018)

Congenital hypertrophy of retinal pigment epithelium


A form of glaucoma in which there is no visible abnormality in the trabecular meshwork.


Convergent squint which follows loss or impairment of vision. [ORCID:0000-0003-0986-4123]


Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection. [ORCID:0000-0003-0986-4123]


Exotropia in an individual who has previously had esotropia or esophoria. [ORCID:0000-0003-0986-4123]


A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. [ORCID:0000-0003-0986-4123]


An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. [ISBN-13:978-0199679980]


A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. [ORCID:0000-0003-0986-4123, PMID:23479532]


An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. [ORCID:0000-0003-0986-4123]


A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye. []


A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. [ORCID:0000-0003-0986-4123]


A type of astigmatism related to an irregular shape of the lens. []


Paralysis of the iris and ciliary apparatus. [HPO:probinson]


Hypersensitivity in form of an adverse immune reaction against feathers. []


Dust mite allergy
Allergy to dust mites
Allergy to house dust mites

Allergic rhinitis due to HOUSE DUST MITE ALLERGENS (e.g., Der p 1 of HOUSE DUST MITES) that is triggered by the immune system.


A partial or complete breakage of the nose. []


A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. [HPO:curators]


Presence of a cyst (sac-like structure) located in the larynx. [HPO:probinson, PMID:24040590]


Scleroderma lung disease
Scleroderma of lung
Bilateral basilar pulmonary fibrosis

It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. [PMID:7378088, RGD:gthayman]


Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). [ORCID:0000-0002-4095-8489, PMID:929215]


This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. [PMID:18195376]


Tracheal diverticulosis
Diverticulosis of trachea

Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical). [PMID:18544671, PMID:27867581]


A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain.


general increase in bulk of the myocardium not due to tumor formation, nor to an increase in the number of cells, but due to chronic pressure overload; enlargement of the right ventricle of the heart is often attributed to pulmonary hypertension; enlargement of the left ventricle of the heart is attributed to sustained abnormal pressure or volume loads.


Narrowing of blood vessel below aortic heart valve

An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.


Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove. []


An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction. [PMID:15831598]

Permanent junctional reciprocating tachycardia


The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung. [ORCID:0000-0001-5208-3432, PMID:24468004]


A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression.


Tear in inner wall of large artery that carries blood away from heart

A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media.


Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. [HPO:probinson, PMID:20448134]


A finding indicating narrowing of a vein in one or multiple areas.


A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). [PMID:22483320, PMID:25864701]


A condition in which neurally-mediated syncope occurs due to a specific circumstance, such as micturition, defecation, coughing, or traction of the hair. (ACC-AHA)


A condition characterized by the autoantibody-induced destruction of neutrophils.

Neutropenia in presence of anti-neutropil antibodies


Abnormality of gum ridge
Abnormality of dentoalveolar ridges
Abnormality of alveolar margin
Defect in alveolar ridge

Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. [HPO:probinson]


Enlargement of parotid gland
Hypertrophy of parotid gland
Increased size of parotid gland

Increased size of the parotid gland. [DDD:jclayton-smith]


A depression located on a lip. [HPO:probinson]


Inflammation of the lining of the middle section of the small intestine. [PMID:26420973]


An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. [PMID:27247538]


Inflammation of the colon that is caused by Cytomegalovirus.


An rupture in the rectal wall due to traumatic or pathologic processes.


Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation. [PMID:32644551]


A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it. [PMID:32644551]


The presence of dilatation of the renal pelvis. [HPO:probinson]


Renal Fanconi syndrome
'de toni-fanconi-debre' syndrome

Probably related to a recessive gene, this is Fanconi Syndrome, characterized by adult onset.


A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. [PMID:26904418]


Midline indentation or cleft of the scrotum. [HPO:probinson, PMID:23650202]


Scrotum tumour
Scrotum tumor
Neoplasm of the scrotum

A benign or malignant neoplasm that affects the scrotum.


Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).


Decreased response to thyroid hormones in the pituitary gland with normal response in peripheral tissues.


Nodular goiter characterized by one discrete tissue mass.


Nodular goiter characterized by more than one discrete tissue mass.


Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset.


Maturity-onset diabetes of the young
Maturity onset diabetes of the young

A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively.


Corticotropin deficiency
Adrenocorticotropic hormone deficiency

Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland.


A benign, disorganized mass of various mature cells, located heterotopically in the hypothalamus; it is often associated with endocrine and neurological conditions, such as precocious puberty and gelastic seizures.


A benign cyst located in the pituitary gland, containing fluid, tissue, or other material. It may be an incidental finding or present with headache, vision loss, or impaired pituitary gland function.


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


Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.


Aplasia of the testes
Absent testis
Absent testes

Testis not palpable in the scrotum or inguinal canal. [HPO:probinson, PMID:23650202]


Inadequate production of circulating testosterone.


The onset of growth of pubic hair at an earlier age than normal. [HPO:probinson]


Premature onset of adrenal androgen-mediated secondary sexual characteristics.


Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels is associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS.


Calcified deposits in soft tissue structures outside a joint. []


An abnormally increased level of tyrosine in the urine. []


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


Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency


An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


abnormally decreased amount of fat in the blood.


Dermatographic urticaria
Dermographism
Skin writing

A raised, inflamed skin reaction to pressure from rubbing or scratching.


The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. [PMID:20464096]


A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.


Contractures involving the joints of the feet


Abnormal accumulation of fluid in or around the ankle joint. []


A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule. [PMID:17488856, PMID:19468907]


Usually mild scoliosis that disappears when the person bends forward or sideways. The spine is structurally normal.


A bacterial infection that is caused by Staphylococcus aureus that is not susceptible to methicillin.

Methicillin-resistant Staphylococcus aureus infection


Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles. []


Overgrowth of candida albicans in the penis. [PMID:27659805]


Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS. [PMID:30619685]


A form of anaphylaxis that is triggered by exposure to venom. [PMID:21458655]


A form of anaphylaxis that is triggered by intake of drugs or medications. [PMID:29135486]


Anaphylaxis after physical activity. [PMID:7400473]


Blurred vision is the loss of visual acuity (sharpness of vision) resulting in a loss of ability to see small details. (from MedlinePlus Medical Encyclopedia)


Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. [HPO:probinson]


A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. [PMID:18427617]


A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. [DDD:gblack]


A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. [DDD:gblack]


Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. [HPO:probinson, ORCID:0000-0003-0986-4123, PMID:18179896]


A pale yellow discoloration of the temporal (lateral) portion of the optic disc. [HPO:probinson, PMID:19668477]


Inability to perceive painful stimuli. [HPO:probinson]


Poliosis of forelock hair
White part of hair above forehead
Poliosis of anterior hair

A triangular depigmented region of white hairs located in the anterior midline of the scalp. [DDD:probinson]


An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. [PMID:25184085]


The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. [HPO:probinson]


A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. [PMID:26079824]


An electrocardiographic finding of a ventricular tachycardia in which the QRS complexes have a uniform morphology. (CDISC)


A ventricular tachycardia that is irregular in rate and rhythm.


A pituitary prolactin cell adenoma of less than 10 mm diameter. [HPO:probinson]


A pituitary prolactin cell adenoma of more than 10 mm diameter. [HPO:probinson]


Hypoplastic corpus callosum
Corpus callosum hypoplasia
Hypoplasia of the corpus callosum
Hypoplasia of corpus callosum

Underdevelopment of the corpus callosum. [HPO:probinson, PMID:21263138]

Underdevelopment of part of brain called corpus callosum


Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. [HPO:probinson]

Epidural arachnoid cysts of the spinal canal


Absence (aplasia) of the sacrum. [HPO:probinson]


Hypoplasia of eyelid
Hypoplastic eyelid
Underdevelopment of eyelid

Developmental hypoplasia of the eyelid. [GOC:MG]


Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. [PMID:19125427]


Absent tear secretion
Absent lacrimal fluids
Absence of tears in the eyes

Absence of tear secretion. [HPO:probinson]


Unopened tear duct
Lacrimal duct atresia
Nasolacrimal duct atresia

A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. [HPO:probinson]


A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. [HPO:probinson]


Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. [HPO:probinson, PMID:19496508, PMID:9158139]


Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. [HPO:probinson]


Underdeveloped iris
Hypoplasia of the iris
Hypoplastic iris

Congenital underdevelopment of the iris. [HPO:probinson]


A congenital abnormality of the eye caused by incomplete regression of the tunica vasculosa lentis, which is the vascular structure that nourishes the crystalline lens in utero.


An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. [HPO:probinson]


A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. [HPO:probinson]


An abnormality of the circulatory connection between atria and ventricles. [DDD:dbrown]


Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. [DDD:dbrown, HPO:probinson, PMID:23804932]


Congenitally corrected transposition of the great arteries

A rare heart defect that occurs when the HEART VENTRICLES and attached valves, the MITRAL VALVE and the TRICUSPID VALVE are reversed so that the AORTA and the PULMONARY ARTERY are connected to the wrong ventricle. Although the heart valves and the two great arteries, the PULMONARY ARTERY and the AORTA are transposed, the blood flows to the correct place because the ventricles are also reversed and therefore corrects the transposition. It often occurs with other structural heart abnormalities.


With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). [DDD:dbrown, HPO:probinson]


The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. [DDD:dbrown, HPO:probinson]


The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. [DDD:dbrown, HPO:probinson]


Absent right sided atrioventricular connection

A defect where there is no connection between the right atrium and right ventricle. [PMID:7104116]

Absent right sided atrioventricular connexion


Absent left sided atrioventricular connexion

A defect where there is no connection between the left atrium and left ventricle. [PMID:7104116]

Absent left sided atrioventricular connection


Double outlet right ventricle, doubly committed ventricular septal defect


Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium. [DDD:dbrown, PMID:17578953, PMID:19808620, PMID:20532458]


The presence of a left and a right superior vena cava. [PMID:18847480]


An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium. [DDD:dbrown, HPO:probinson]


A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). [HPO:probinson]


A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. [DDD:dbrown, HPO:probinson, PMID:17948095]


Abnormal atrial septum morphology
Abnormal interatrial septum morphology

An abnormality of the interatrial septum. [HPO:probinson]


Atrial septal defect, ostium secundum type

A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. [DDD:dbrown, HPO:probinson]


An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. [DDD:dbrown, HPO:probinson, PMID:16172274]


Primum atrial septal defect
Septum primum defect
Atrial septal defect, primum type

An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. [DDD:dbrown, HPO:probinson]


Unguarded tricuspid valve
Unguarded tricuspid valve orifice

A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. [PMID:14246338, UToronto:chum]


A congenital heart defect characterized by the complete atresia of the mitral valve.


The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue. [DDD:dbrown, HPO:probinson, PMID:20851840]


The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. [HPO:probinson]

Tetralogy of Fallot with pulmonary stenosis


An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. [ORCID:0000-0001-5208-3432, PMID:22368654]

Tetralogy of Fallot with pulmonary atresia


Abnormality of the right ventricle
Abnormal right ventricle morphology

An abnormality of the right ventricle of the heart. [HPO:probinson]


Enlargement of the chamber of the right ventricle. [HPO:probinson, PMID:17715105]


Abnormal heart left ventricle morphology

Any structural abnormality of the left ventricle of the heart. [HPO:probinson]


Abnormality of the left ventricular outflow tract

An abnormality of the outflow tract of the left ventricle. [HPO:probinson]

Abnormal left ventricular outflow tract morphology


Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD. [DDD:dbrown, PMID:10798413]


Ventricular septal defect, perimembranous

Paramembranous ventricular septal defect

Perimembraneous ventricular septal defect

Perimembranous ventricular septal defect

A congenital heart defect resulting from deficient growth or failure of fusion of the membranous component of the ventricular septum.

Conoventricular ventricular septal defect


A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion. []


The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. [http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4, PMID:21349577]


A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment.


The presence of a bicuspid pulmonary valve. [HPO:probinson]


The presence of an aortic valve with one instead of the normal three cusps (flaps). [HPO:probinson, PMID:18480095, PMID:20329493]


Congenital malformation where the AORTIC VALVE has four instead of three cusps. It is often associated with AORTIC REGURGITATION and AORTIC VALVE STENOSIS.


peripheral pulmonary stenosis
Peripheral pulmonary artery stenosis
Narrowing of peripheral lung artery

Stenosis of a peripheral branch of the pulmonary artery. [HPO:probinson]


The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. [DDD:dbrown]

Anomalous origin of right pulmonary artery from ascending aorta


The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. [DDD:dbrown]

Anomalous origin of left pulmonary artery from ascending aorta


Ascending aorta dilation
Ascending aortic dilation


Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity. [PMID:26085759]


The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle. [PMID:27525240]


The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. [DDD:dbrown]


Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. [HPO:probinson, PMID:17593995, PMID:18651460]


Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. [DDD:dbrown]


Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. [DDD:dbrown]


Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries. [DDD:dbrown]


An abnormal path of a coronary artery. [DDD:dbrown]


Congenital absence of the pericardium
Total absence of the pericardium

No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. [DDD:dbrown]


Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. [HPO:probinson]


Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. [HPO:probinson]


A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease.


The presence of a hypoplastic gallbladder. [HPO:probinson]


Anomalous liver lobulation
Abnormal liver lobulation

Formation of abnormal lobules (small masses of tissue) in the liver. [HPO:probinson]


Hypoplasia of the vagina
Hypoplastic vagina

A congenital defect in which the vagina is underdeveloped.


Two penile structures, separated from the tip to the base of the shaft. [HPO:sdoelken, PMID:23650202]


Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. [Eurenomics:ewuehl]


Absent urethral opening
Urethral atresia

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


A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. [HPO:probinson]


Hypoplasia involving bones of the lower limbs

Leg shortening because of underdevelopment of one or more bones of the lower extremity. [HPO:probinson]


Short femurs
Femoral hypoplasia
Hypoplasia of the femora
Short thighbone

An abnormal shortening of the femur. [HPO:probinson]


Small, underdeveloped vertebral bodies. [HPO:probinson]


The presence of more than the usual or expected number of thoracic ribs.


A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. [PMID:22483320, PMID:25864701]


Middle ear tumor
Middle ear tumour
Neoplasm of the middle ear

A benign or malignant neoplasm that affects the middle ear. Representative examples include adenoma, paraganglioma, and carcinoma.


Neoplasm of the small intestine
Small intestine tumor

A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma.


An autosomal dominant hereditary neoplastic syndrome. Mutations in the SMAD4 or BMPR1A genes have been identified in some patients. It is characterized by the presence of multiple juvenile polyps in the gastrointestinal tract.


Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Primary liver cancer starts in the liver. Metastatic liver cancer starts somewhere else and spreads to your liver.

Risk factors for primary liver cancer include

Having hepatitis B or C

Heavy alcohol use

Having cirrhosis, or scarring of the liver

Having hemochromatosis, an iron storage disease

Obesity and diabetes

Symptoms can include a lump or pain on the right side of your abdomen and yellowing of the skin. However, you may not have symptoms until the cancer is advanced. This makes it harder to treat. Doctors use tests that examine the liver and the blood to diagnose liver cancer. Treatment options include surgery, radiation, chemotherapy, or liver transplantation.

NIH: National Cancer Institute


An undifferentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular, squamous, or neuroendocrine differentiation.


A type of mesothelioma with a tendency to metastasize. Most tumors originate from either the PLEURA or PERITONEUM, tumors may also originate in the PERICARDIUM or testicular tissue. It is associated with ASBESTOS exposure. Somatic mutations identified in WT1, BCL10, CDKN2A, NF2, and BAP1 genes are associated with the malignancy. OMIM: 156240.


Skin adnexal neoplasm
Skin adnexal tumor
Skin adnexal tumour

A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.


Small (one to two mm), firm, white cysts on the skin.


A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. []


Basal cell hamartoma with follicular differentiation

A tumor involving the follicular infundibulum.


A rare, pilar-associated mesenchyme neoplasm with follicular differentiation. It usually occurs in the face, neck, and chest. It presents as a dome-shaped papular lesion. It is composed of epithelial and mesenchymal cells. Patients with Birt-Hogg-Dube syndrome may develop follicular fibromas.


A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.


A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.


Cutaneous leiomyomata
Cutaneous leiomyoma

A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


A rare, mitotically active spindle cell neoplasm arising from the smooth muscle in the dermis. It has an excellent prognosis, as compared to the deep soft tissue leiomyosarcomas.


Tufted hemangioma
Tufted angioma
Angioblastoma
Progressive capillary hemangioma
Angioblastoma of Nakagawa

A capillary hemangioma of the skin usually presenting with patches or plaques.


A melanocytic nevus that contains a variable number of darkly pigmented macules and papules.


An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.


A benign, usually bilateral neoplasm of the ovary characterized by the presence of cystic structures that contain watery fluid and are lined by serous epithelial cells. Signs and symptoms include abdominal enlargement, pain, and vaginal bleeding.


An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. It includes vulvar squamous intraepithelial lesion, HPV-associated and vulvar intraepithelial neoplasia, HPV-independent.


A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.


The presence of an adenoma in the cortex of the kidney. [HPO:probinson]


A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions.


An exophytic and polypoid lesion attached to the ureter by a broad base or a thin stalk.


Pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site.


A pituitary adenoma that is less than 10 mm in diameter. [PMID:32119338]


A pituitary gland adenoma with a diameter greater than 10 mm. Clinical manifestations include headache, visual field disturbances, pituitary insufficiency, and mild hyperprolactinemia.


Glial cell derived tumors arising from the optic nerve, usually presenting in childhood.


A meningioma that arises from the sheath of the optic nerve.


A uveal melanoma that arises from the iris. It is the most common primary malignant neoplasm of the iris. The majority arise in preexisting nevi.


A benign nevus that arises from the iris. Only a small percentage of cases progress to iris melanoma.


A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor.


A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis.


A benign nevus that arises from the choroid. Only a small percentage of cases progress to choroid melanoma.


A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma.


A precancerous neoplastic intraepithelial process involving either the squamous and transitional zones of the anal canal or the perianal skin (anal margin).


Fatty tumors on the eyelids
Lipomas of eyelids

Fatty tumors on the eyelids. [ORCID:0000-0003-0986-4123]


Benign neoplasm of the central nervous system


A meningioma that affects the spinal cord.


A rupture in the colonic wall due to traumatic or pathologic processes.


A partial or complete breakage of the thoracic vertebra. []


A partial or complete breakage of the talus. []


A benign or malignant tumor-like pathologic process involving the organs and structures in the pelvis.


Lacticacidemia
Lactic acidemia
Increased lactate in body


A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.

Malignant neoplasm of the central nervous system


Seizures caused by psychological factors without electrophysiological epileptic changes.


An enlargement of the thyroid gland with congenital onset. [HPO:probinson]


Photosensitive skin
Sun sensitivity
Photosensitive skin rashes
Photosensitivity
Cutaneous photosensitivity
Sensitivity to sunlight

Increased sensitivity of the skin to light exposure.


An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue.


A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma.


A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.


Small stature
Height less than 3rd percentile
Short stature
Decreased body height

Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.


A meningioma that arises within the cranial cavity.


Central nervous system cyst
Cyst of the central nervous system

Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.


B Acute Lymphoblastic Leukaemia
Pre-B-cell acute lymphoblastic leukemia
B Acute Lymphoblastic Leukemia

A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. [NCIT:C8644]

Pre-B-cell acute lymphoblastic leukaemia


A leukemia affecting young children characterized by SPLENOMEGALY, enlarged lymph nodes, rashes, and hemorrhages. Traditionally classed as a myeloproliferative disease, it is now considered a mixed myeloproliferative-mylelodysplastic disorder.


A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty.


Replacement of corneal tissue with scar tissue as a result of injury to the deeper layers of the cornea.


Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. [HPO:probinson]


Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation. [ORCID:0000-0002-4095-8489, PMID:9172037]


A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.


A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. [PMID:26079824]


Paralysis or weakness of one side of body

Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. [HPO:curators]


Prominence of cheekbone
Malar hypertrophy
Cheekbone prominence
Pronounced cheekbone

Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. [ORCID:0000-0001-5889-4463, PMID:19125436]


Facial palsy, unilateral or bilateral
VII th cranial nerve palsy
Facial nerve paralysis
Seventh cranial nerve palsy
Facial palsy
Facial nerve palsy
Cranial nerve VII palsy

A syndrome characterized by the acute onset of unilateral FACIAL PARALYSIS which progresses over a 2-5 day period. Weakness of the orbicularis oculi muscle and resulting incomplete eye closure may be associated with corneal injury. Pain behind the ear often precedes the onset of paralysis. This condition may be associated with HERPESVIRUS 1, HUMAN infection of the facial nerve. (Adams et al., Principles of Neurology, 6th ed, p1376)


A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.


Excessive growth of the gingiva either by an increase in the size of the constituent cells (GINGIVAL HYPERTROPHY) or by an increase in their number (GINGIVAL HYPERPLASIA). (From Jablonski's Dictionary of Dentistry, 1992, p574)


Hematological neoplasm
Haematological neoplasm
Blood cancer
Blood tumour

Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES.


High frequency of chromosome breaks in lymphocytes

A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.


A benign, WHO grade I cerebellar mass, which occurs in young adults and is composed of dysplastic ganglion cells. It is the major CNS manifestation of Cowden disease, an autosomal dominant condition that causes a variety of hamartomas and neoplasms.

Dysplastic gangliocytoma of the cerebellum


Abnormal erythrocyte morphology
Abnormality of erythrocytes

Any structural abnormality of erythrocytes (red-blood cells). [HPO:probinson]


Bilateral cheiloschisis
Both sided cleft lip
Bilateral cleft lip

A non-midline cleft of the upper lip on the left and right sides. [HPO:probinson]


One sided cleft upper lip
Unilateral cheiloschisis
Unilateral cleft upper lip

A non-midline cleft of the upper lip on one side only. [HPO:probinson]


An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications.


An erosion or abrasion of the cornea's outermost layer of epithelial cells. [HPO:sdoelken]

Damage to outer layer of the cornea of the eye


An increased lipid content in the urine. [ORCID:0000-0001-9969-8610, PMID:26124059, PMID:29950951]


Repetition of one's own words or phrases. [PMID:27527544]


Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. [HPO:curators]


A bulge or ballooning in the wall of the ventricle of the heart. (ACC)


Abnormal development of the ends of long bones in arms and legs


Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. [DDD:dbrown, HPO:probinson]


Kidney stones
Renal calculi
Nephrolithiasis


The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention. [ORCID:0000-0002-8169-9049, PMID:31550101]

Twisted vestigial remnant of the Muellerian duct


Nuclear cataract
Yellowish cloudy center of lens

A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. [HPO:sdoelken]


Body temperature of 106 degrees Fahrenheit (41.1 degrees Celsius) or higher.


A decreased concentration of protein in the blood. [HPO:gcarletti]


Distortion of a sense resulting in an abnormal and unpleasant sensation, usually described as burning, tingling, or numbness. Causes include lesions of the nervous system.


Anaemia of inadequate production
Anemia, dyserythropoietic
Ineffective erythropoiesis
Dyserythropoietic anemia
Defective erythropoiesis
Anemia of inadequate production

due to failure of bone marrow stem cells to differentiate properly, usually due to hereditary or virus-induced mutation.


Being confined or restricted to a particular location. [HPO:probinson]


An idiopathic disorder characterized by the degeneration of the aortic media tissue and formation of cyst-like spaces. It may lead to aortic dissection.


A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy.


Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). [PMID:27608867]


Cerebellar ataxia, progressive
Progressive ataxia


Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. [HPO:probinson]


A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. [HPO:probinson]


Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.


Generalised myoclonic-atonic seizure
Generalized myoclonic-atonic seizure
Myoclonic atonic seizures

A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. [HPO:jalbers, PMID:28276060, PMID:28276064]


Seizures that occur while the affected individual is sleeping. [PMID:22334817, PMID:23385697, PMID:25941204]


An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. [HPO:jalbers, PMID:19469840, PMID:28276060, PMID:28276062, PMID:28276064]


An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. [HPO:probinson]

Entrapment neuropathy of suprascapular nerve


Narrowing of passageway from outer ear to middle ear

An abnormal narrowing of the external auditory canal. [HPO:probinson]


Calcification of the TYMPANIC MEMBRANE and MIDDLE EAR most often associated with chronic OTITIS MEDIA.


Postauricular pit
Postauricular fistula
Postauricular earpits
Posterior auricular pit
Pit behind the ear

Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. [HPO:sdoelken]


Bowing (abnormal curvature) of the vocal folds. [HPO:probinson]


Laryngeal papilloma
Laryngeal papillomatosis

Recurrent respiratory papillomatosis that affects the larynx.


Ductus arteriosus aneurysm
Aneurysm of the ductus arteriosus

Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end. [PMID:10898444, PMID:11788230, PMID:27433265, PMID:29656824, UToronto:chum]


Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of SUBCUTANEOUS FAT often in obese women. It is associated with HEMATOMA, pain and may progress to secondary LYMPHEDEMA which is known as lipolymphedema.


A disorder of HEMOSTASIS in which there is a tendency for the occurrence of THROMBOSIS.


An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)


Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. [HPO:probinson]


Thrombocytopenia occurring in the absence of toxic exposure or a disease associated with decreased platelets. It is mediated by immune mechanisms, in most cases IMMUNOGLOBULIN G autoantibodies which attach to platelets and subsequently undergo destruction by macrophages. The disease is seen in acute (affecting children) and chronic (adult) forms.


Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. [HPO:probinson, PMID:2251975]


An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is causative in hemolytic anemia due to glutathione synthetase deficiency, with the more severe condition causing elevated urinary concentrations of 5-oxoproline and central nervous system damage in addition to hemolytic anemia.


Complete anodontia
Tooth agenesis
Anodontia vera
Failure of development of all teeth
Complete dental agenesis
Total anodontia
Complete agenesis of all teeth

Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)


Additional cusps of a dental crown. [PMID:31468724]


Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). [HPO:ibailleulforestier]


Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth.


Premature exfoliation of deciduous teeth

Loss of the primary (also known as deciduous) teeth before the usual age. [HPO:sdoelken]


Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.


Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. []


Intra-oral hyperpigmentation
Oral racial pigmentation
Hyperpigmentation of oral mucosa

Increased pigmentation, either focal or generalized, of the mucosa of the mouth. [PMID:19125428]


Uneven lower jaw
Asymmetry of lower jaw
Lower jaw shifted to one side
Uneven mandible

Lack of symmetry between the left and right mandible. [HPO:probinson]


Asymmetry of right and left side of the maxilla

Asymmetry between the left and right sides of the maxilla. [ORCID:0000-0001-5889-4463]


Increased size of lower jaw
Mandible prognathism
Macromandible
Enlarged mandible
Increased projection of mandible
Prognathism
Big mandible
Mandibular prognathia
Enlargement of mandible
Prominent chin
Lower jaw hyperplasia
Large lower jaw
Mandibular prognathism
Mandibular macrognathia
Big lower jaw
Large mandible
Increased projection of lower jaw
Prominent jaw
Prognathia
Lower jaw excess
Prominent lower jaw
Hyperplasia of lower jaw
Prominent mandible

Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).


Anterior diastema of teeth
Diastema between incisors
Widely spaced front teeth
Widely-spaced incisors
Gap between front teeth


Underdevelopment of condylar process of mandible

Agenesis of condylar process of mandible


Hypoplasia of subcondylar region of mandible

Decreased size of condylar process of mandible

Hypoplasia of condylar process of mandible


Commissural pit
Commissural lip pit
Pits at the corners of the lips
Lip pits at corners of the mouth

A depression located at an oral commissure. [HPO:sdoelken, PMID:19125428]


Blockage in the biliary tract that carries bile from the liver to the gallbladder and small intestine. Causes include gallstones, biliary tract strictures and inflammation, pancreatitis, cirrhosis, lymph node enlargement, and bile duct and pancreas neoplasms.


The presence of cyst of the intrahepatic bile duct. [HPO:probinson]


Constipation of sudden onset and lasting for less than three months. [ORCID:0000-0001-5208-3432]


Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. [ORCID:0000-0001-5208-3432]


Recurrent diarrhoea
Chronic diarrhea
Chronic diarrhoea
Recurrent diarrhea

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. [HPO:probinson]


Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids.


A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. [Eurenomics:ewuehl, ORCID:0000-0002-2234-4248, PMID:29910038]