Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. [PMID:22435879, PMID:29861637]


Abnormal fecal test result
Abnormal feces composition
Abnormal stool composition

Abnormal level of metabolite or other abnormal analyte result in a stool test. []


Loss of fat tissue in localised area
Loss of fat tissue in localized area
Atrophy of fat

Localized loss of fat tissue. [HPO:sdoelken]


Blockage of the lacrimal duct. [HPO:probinson]


A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. [ISBN-13:9781416029076, ORCID:0000-0003-0986-4123]


A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. [PMID:25586714]


An increased count of granulocytes in the peripheral blood circulation. []


Inflammation of sharpey fibres
Inflammation of sharpey fibers

Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). [ORCID:0000-0002-4095-8489, PMID:30545968]


Accumulation of fluid in the peritoneal cavity during the fetal period. [HPO:probinson]


Inflammation of cartilage. [HPO:sdoelken]


A pain characteristic is defined as a subjective category or type of pain. []


Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth.


Temporally uniform pulmonary inflammation

Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia.


A balloon type pouch or bulge in the wall of a cerebral artery.


Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts. [PMID:18932274, PMID:2053351]


Abnormal number of teeth
Abnormal tooth count

The presence of an altered number of of teeth. [HPO:ibailleulforestier]


Failure of development of permanent teeth

Failure of development of secondary teeth

A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. [HPO:probinson]


Osteomyelitis, especially of the mandible


An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. [PMID:12916637]


An anomaly of the wave-like muscle contractions of the digestive tract. [HPO:probinson]


Abnormality of the dental root
Abnormality of tooth root
Dental root anomaly

An abnormality of the dental root. [HPO:ibailleulforestier]


Increased cholesterol esters
Elevated cholesteryl ester level
Elevated cholesterol ester level

An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol. []


A reduction in aldehyde oxidase level. [HPO:probinson]


Magnesium ammonium phosphate crystalluria

Magnesium ammonium phosphate crystals in the urine. []


Decreased vibratory sense
Impaired vibratory sensation
Impaired vibratory sense
Hypopallesthesia
Decreased vibration sense

A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. [HPO:probinson]


Decreased plasma TSH
Decreased thyrotropin level

Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. []

Decreased thyroid-stimulating hormone level


Increased serum oestradiol
Increased estradiol level

An elevation above normal limits of the concentration of estradiol in the circulation. []


An elevated concentration of glucagon in the blood circulation. []


A reduced concentration of glucagon in the blood circulation. []


Gradual, very slow onset of disease manifestations. [HPO:probinson]


Hypoplastic optic disks
Hypoplastic optic discs

Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. [HPO:probinson]


Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD. [DDD:dbrown]

Non-restrictive ventricular septal defect


Aortic root aneurysm
Increased aortic root diameter

An abnormal balloon- or sac-like dilatation in the wall of the AORTIC ROOT.

Bulge in wall of root of large artery that carries blood away from heart


This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot. []


Villitis of unknown etiology
Villitis of unknown aetiology
Nonspecific chronic villitis

T-cell immune response with diffuse perivillous fibrin deposition associated with intrauterine growth restriction, pre-term birth and recurrent fetal loss.


A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.


Abnormality of mast cells
Abnormality of mastocytes

Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. [HPO:sdoelken]


Severe visual loss
Marked vision impairment
Severely impaired vision
Severe reduction in visual acuity
Severe vision loss
Severely reduced visual acuity

Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation). [PMID:28779882]


Moderate visual impairment
Moderate reduction in visual acuity
Moderate visual loss
Moderately reduced visual acuity

Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation). [ORCID:0000-0001-5208-3432, PMID:28779882]


Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY.


Tetralogy of Fallot with absent pulmonary valve syndrome

Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. [DDD:dbrown]


A non-neoplastic, hamartomatous polyp that arises from the small intestine. It includes the juvenile polyp and Peutz-Jeghers polyp.


A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin. []


Congenital fibrosis of extraocular muscles

Congenital fibrosis of the extraocular muscles

Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. [HPO:probinson]


Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors.


Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. [HPO:probinson, PMID:15249382, PMID:15530943, PMID:24719364]


A type of epicanthus in which a primarily upper lid fold is present. [ORCID:0000-0003-0986-4123]


A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. [PMID:19125427]


A type of epicanthus in which a medial vertical fold is present between upper and lower lids. [ORCID:0000-0003-0986-4123]


The presence of whitish spots in a ring-like arrangement at the periphery of the iris. [HPO:probinson]


Abnormal (non-physiological) constriction of the pupil of congenital onset. [HPO:probinson]


Abnormal tortuous (i.e., twisted) form of the carotid arteries. [HPO:probinson]


A hemangioma associated with Castleman disease and POEMS syndrome. The lesions affect the trunk and extremities and present as erythematous papules. (WHO 2018)


A traumatic break in the radius or ulna bone.


Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum. [PMID:21810958]


Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon.


An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion.


A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.


Asymmetry of right and left side of face

Congenital or acquired asymmetry of the face.


Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma.


abnormally high globulin content of the blood.


Disorder caused by the occlusion of the lumen of the peripheral arteries. Causes include atherosclerosis, inflammatory processes, thrombosis, and embolism. The arterial occlusion results in chronic or acute pain usually in the lower limbs due to muscle ischemia.


Abnormal placenta morphology
Placental issue

An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. [HPO:probinson]


Acute inflammation of the conjunctiva characterized by pink or red color in the eyes.


Elevated circulating alkaline phosphatase concentration

Abnormally increased serum levels of alkaline phosphatase activity. [HPO:probinson, PMID:29083622]


Nodular regenerative hyperplasia of liver

Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. [PMID:21472097]


Digital fibrous tumor of Reye
Digital fibrous tumour of Reye
Infantile digital fibroma
Inclusion body fibromatosis

A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.


A nephrogenic rest found within the renal lobe.


A nephrogenic rest found at the periphery of the renal lobe.


Transitional renal cell carcinoma
renal TCC
Renal transitional cell carcinoma

A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. [HPO:probinson]


The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


Asthmatic adverse reaction (e.g., BRONCHOCONSTRICTION) to conventional NSAIDS including aspirin use.


Remnants of nephrogenic blastema cells in the kidney following embryonic development.


Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. [PMID:12060874]


Bleeding from the bronchial wall and/or lung parenchyma.


A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. [HPO:probinson]


Slow visual tracking
Slow saccades
Slow saccadic eye movements

An abnormally slow velocity of the saccadic eye movements. [HPO:probinson]


Vaginal atresia
Abnormally closed or absent vagina

Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. [HPO:probinson]


A finding indicating the presence of blood in stool. It is the result of gastrointestinal hemorrhage and it may be easily seen in stool or may be identified microscopically.


Parathyroid agenesis
Parathyroid aplasia

Aplasia of the parathyroid gland. [HPO:probinson]


A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. [HPO:probinson, ORCID:0000-0002-6670-9157, PMID:23764788, PMID:34377520]


Abnormality of an amino acid metabolic process. [HPO:probinson]


Retinal pigmentary clumping
Pigmentary retinal deposits


A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. [PMID:23726535]


Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). [HPO:probinson]


Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. [HPO:probinson]


An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding.


A squamous cell carcinoma arising from the mucosa of the anal canal.


A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare.


Paget disease involving the perianal skin.


Neoplasm of the autonomic nervous system

Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.


A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.


A cavernous hemangioma arising from the face.


A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26).


Cervical adenocarcinoma not associated with human papillomavirus infection and characterized by the presence of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).


A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.


A rare benign adipose tissue neoplasm of the corpus callosum.


A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare.


Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. [PMID:21880133, PMID:29254324, PMID:9191008]


A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.


A benign, painless soft tissue tumor that arises in a muscle, usually in a large muscle of the thigh, buttocks, shoulder, or upper arm. It is associated with point mutations of the GNAS gene. Grossly it is characterized by a gelatinous and lobulated cut surface. Morphologically it is composed of uniform spindled and stellate-shaped cells without atypia. The cells are separated by myxoid stroma. No recurrences have been reported.


A benign neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts.


An extragonadal germ cell tumor that arises from the mediastinum. It is characterized by the presence of somatic tissues derived from two or three of the germ layers (ectoderm, endoderm, and mesoderm).


A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.


Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. [PMID:16702501]


A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.


A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the sellar region, pituicytoma, spindle cell oncocytoma, and sellar ependymoma.


A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium.


Mucinous neoplasm of the ovary
Ovarian mucinous tumour

A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract.


A rare neoplasm of mesothelial origin that arises from the pericardium.


A fluid filled sac within the pineal gland. It is usually an incidental finding of no real clinical significance.


A rare benign epithelial neoplasm composed of oncocytes, which are large cells with a large amount of granular eosinophilic cytoplasm containing numerous tightly-packed mitochondria. Approximately 85% to 90% occur in the parotid gland; most of the remainder occur in the submandibular gland. The peak incidence is in the seventh through ninth decades of life. In almost all cases, swelling is the only complaint of the patient.


A hemangioma arising from the subglottic area.


Blockage of the lumen of the superior vena cava.


A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.


A papillary renal cell carcinoma characterized by the presence of papillae covered by small cells with scant amount of cytoplasm. The cells are arranged in a single layer on the basement membrane of the papillae.


A papillary renal cell carcinoma characterized by the presence of papillae covered by cells of a higher nuclear grade as compared to type 1 papillary renal cell carcinoma. The cells have eosinophilic cytoplasm and pseudostratified nuclei.


An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma.


Ectopic thyroid gland which is located in the vicinity of the thyroid gland proper without any direct connection with it.


A morphologic variant of fibroma arising from the nasopharynx. It is characterized by the presence of numerous dilated vascular channels.


A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.


A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.


Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome.


A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.


An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. [PMID:24467750, PMID:24808988]


An increased quantity of earwax. [PMID:probinson]


An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.


Testicular failure due to a condition directly affecting the testes.


Application of forceps to the fetal head to facilitate vaginal birth.


A significant descent of the kidney as the patient moves from the supine to the erect position. [HPO:probinson, PMID:18990154]


Recurrent genital pain occurring during, before, or after SEXUAL INTERCOURSE in either the male or the female.


Cervical spondylosis
Cervical osteoarthritis

The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. [HPO:probinson]


Hearing impairment
Hypacusis
Hearing defect

Partial or complete loss of the ability to detect or understand sounds resulting from damage to the outer, middle, or inner ear structures. Causes include exposure to loud noise, ear infections, injuries to the ear, genetic, and congenital disorders.


Only one artery in umbilical cord instead of two

Congenital abnormality where one, instead of the usual two, UMBILICAL ARTERY connects the fetus to the placenta.


Small hands and feet in proportion to the rest of the body. [HPO:probinson, PMID:22043168]


hemolytic anemia, chronic
Chronic hemolytic anaemia

An chronic form of hemolytic anemia. [HPO:probinson]


Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. []


An abnormal balloon- or sac-like dilatation in the wall of the DESCENDING THORACIC AORTA.


Congenital absence of the normal opening of a structure of the urinary tract. [HPO:probinson]


A defect of the atrioventricular septum of the heart. [HPO:probinson, PMID:12632326]


Diffuse muscle atrophy
Muscle atrophy, generalised
Generalised amyotrophy
Muscle atrophy, generalized
Muscle atrophy, diffuse
Diffuse skeletal muscle wasting
Muscular atrophy, generalized
Muscular atrophy, generalised
Diffuse amyotrophy
Generalized muscle atrophy
Generalised muscle atrophy
Diffuse muscle wasting
Generalised muscle degeneration
Generalized muscle degeneration

Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. [HPO:probinson]


Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). [HPO:probinson]


Calcification of the basal ganglia
Basal ganglia calcification
Basal ganglion calcification

The presence of calcium deposition affecting one or more structures of the basal ganglia. [HPO:probinson]


Two clitorides located side by side. [PMID:23650202]


Underdeveloped parathyroid glands
Small parathyroid glands

Developmental hypoplasia of the parathyroid gland. [HPO:probinson]


Bleeding within the fundus of the eye. []


The presence of hemorrhage within the body. [HPO:probinson]


Abnormal susceptibility to fractures
Increased tendency to fractures
Increased bone fragility
Frequent broken bones
Bone fragility
Increased susceptibility to fractures

An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. [HPO:sdoelken]


A large maternal clot that separates the chorionic plate from the villous chorion. [PMID:11125254, UToronto:chum]


A type of anterior polar cataract which projects as a conical opacity into the anterior chamber. [HPO:probinson]


A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. [HPO:probinson, HPO:vkumar]


A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes. [HPO:probinson]


Hypoplasia of the colon
Underdeveloped colon

Underdevelopment of the colon. [HPO:probinson]


Multiple bent (flexed) finger joints that cannot be straightened actively or passively. [HPO:probinson]


A mild form of hypospadias in which the urethra opens just under the corona glandis. [HPO:probinson]


Anterior vaginal wall prolapse with bulging of the bladder into the vagina. [HPO:sdoelken]


A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


The presence of multiple diverticula of the intestine. [HPO:probinson]


Preaxial hand polydactyly
Supernumerary thumb
Extra thumb
Preaxial polydactyly of hands
thumb polydactyly

Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. [HPO:probinson]


A type of eczema that occurs in the lips and perioral area. [HPO:probinson]


Enamel with a white or brown discoloration without hypoplasia. [PMID:31468724]


A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. [KI:phemming, PMID:23705127]


Hypoplasia of the epiglottis. [HPO:probinson]


Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. [ORCID:0000-0002-1735-8178, PMID:26336950]


A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other. []


The presence of calcium deposition in the falx cerebri. [HPO:probinson]


Decreased transverse dimension of palate

Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). [PMID:19125428]


Bilateral cleft lip and cleft palate
Bilateral cleft lip and palate

Cleft lip and cleft palate affecting both sides of the face. [HPO:probinson]


Accumulation of calcium salts in the pineal gland. [HPO:probinson]


Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. [ORCID:0000-0003-0169-8159]


Hypertrophy of half of face
Overgrowth of half of face
Enlargement of half of face
Hemifacial hypertrophy
Facial hemihypertophy
Increase in size of half of face
Hemifacial enlargement

Unilateral overgrowth of facial tissues, including muscles, bones and skin. [HPO:probinson]


A general term referring to a defect in immunity resulting from impaired antibody production. []


A fluid-filled VAGINA that is obstructed.


A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. [ORCID:0000-0003-0986-4123]


Starch intolerance
Amylose-amylopectin intolerance

An inability to digest starch. [ORCID:0000-0002-6601-2165]


Short palatine uvula
Blunt uvula
Hypoplastic uvula

Decreased length of the uvula. [PMID:19125428]


Gastric ectopia
Abnormal stomach location
Gastric malposition

Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. [HPO:probinson, PMID:16465538]


The presence of subcutaneous lipoma. [HPO:probinson]


Tandem kidney
Type E cross fused renal ectopia

A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. [PMID:29446682]


Molar shape of premolar
Molar shape of bicuspid
Molarization of bicuspid

Increased size and molar morphology of premolar tooth. [HPO:ibailleulforestier, PMID:15587104]


Intermittent abdominal pain with diarrhea and/or constipation. [OMIM:ahamosh]


Absent ossification/absence of radius
Missing outer large bone of forearm

Missing radius bone associated with congenital failure of development. [HPO:probinson]


Toe contractures
Contractures involving the toes
Contractures of the toes

One or more bent (flexed) toe joints that cannot be straightened actively or passively. [HPO:probinson]


Rotated position of the glans, with or without the penile shaft, of 30 degrees or more. [HPO:probinson, PMID:23650202]


A vertical gaze palsy with inability to direct the gaze of the eyes downwards. [HPO:probinson, PMID:20629667]


Ear cartilage calcification
Ossification of pinnae
Cartilaginous ossification of pinnae
Petrified ear

Calcification of the auricular cartilage

Ossification affecting the external ear cartilage. [HPO:probinson, PMID:15523361, PMID:23259082]


Abnormal deposition of periosteal bone. []


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery. []


A squamous cell carcinoma arising from the perianal skin.


A history of repeated acute infections of the upper or lower respiratory tract. [DDD:tkuijpers]

Recurrent acute respiratory tract infection


Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). [PMID:20405318]


Formation of new noncancerous bone on top of existing bone

Benign hypertrophy that projects outward from the surface of bone, often containing a cartilaginous component.


The presence of a hernia in the abdominal wall. [HPO:probinson]


The presence of a hernia of the vagina. [HPO:probinson]


A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. [ORCID:0000-0003-0986-4123, PMID:24113300]


An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of a faint demarcation line.


An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of an elevated ridge.


An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of extraretinal fibrovascular tissue.


An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of subtotal retinal detachment.


An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of total retinal detachment.


Mechanical limitation of the range of movement of the medial rectus muscle. [ORCID:0000-0003-0986-4123]


Mechanical limitation of the range of movement of the inferior rectus muscle. [ORCID:0000-0003-0986-4123]


Something that sets into motion some course of events; a device that activates or releases or causes something to happen.


Applied to pain that is described as sharp, i.e., sudden and severe. []


Difficulty in looking at another person in the eye. [HPO:probinson]


A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. [HPO:probinson, PMID:19125433]


Reduced motility of the gallbladder with reduced emptying fraction. [HPO:probinson, PMID:12095476, PMID:17761125]


A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME.


Deficiency of parathyroid hormone with congenital onset. [DDD:spark, HPO:probinson]


Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present. []


An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. [HPO:probinson, PMID:10869000]


Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state.


Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. [DDD:hfirth]


Abnormal bleeding
Bleeding diathesis
Bleeding tendency

A coagulation disorder characterized by a tendency for excessive bleeding.


Tumours of the breast
Breast tumor
Neoplasia of the breast
Breast tumour


Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). [PMID:30067929]


A CHOROID neovascularization characterized by serosanguineous retinal pigment epithelial detachment and leakage of serous exudate sometimes associated with aneurysmal polypoidal lesions.


Hypertrophy of the pulmonary artery wall

Increase in mass of the tunica media of the arteries in the pulmonary circulation. [HPO:probinson]


Neuronal loss in the hippocampal regions of CA1 and CA4 and less severely CA2 and CA3. Additional loss of hippocampal stratum radiatum, hippocampal atrophy and ASTROGLIOSIS are common. Hippocampal sclerosis is associated with intractable TEMPORAL LOBE EPILEPSY.


Dysfunction of the corticospinal (pyramidal) tracts of the spinal cord. Symptoms include increased muscle tone in the lower extremities, hyperreflexia, positive Babinski, and decreased fine motor coordination.


A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung. [PMID:18195376]


Narrowing or constriction of the inner surface (lumen) of a cerebral artery. [ORCID:0000-0001-5208-3432]


Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea. [PMID:29309446]


Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. [HPO:probinson]


Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. [HPO:probinson]


Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. [HPO:probinson]


A mesenchymal tumor composed of fibroblastic and histiocytic cells.


An olfactory disturbance where the sense of smell inaccurately conveys disagreeable sensations.


Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue.


Coffee grounds vomiting
Coffee grounds emesis

Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit. [PMID:19564091]


Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER DISEASE; and other conditions may be associated with gait apraxia.


Any nerve disorder caused by the entrapment and compression of a nerve.


Thrombosis and inflammation of a superficial vein of the extremities. Symptoms include red discoloration and warmth of the skin and pain along the affected vein.


Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere. (From Brain & Bannister, Clinical Neurology, 7th ed, p141; Kandel et al., Principles of Neural Science, 3d ed, p846)


Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.


A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.


A rare neoplasm that affects the inner ear.


A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.


A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.


A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites.


High blood magnesium levels
High blood Mg levels

Higher than normal levels of magnesium in the circulating blood.


Pulp calcifications
Pulpoliths
Pulp denticles
Pulp calcification

Tooth-like structure formed from displaced odontogenic tissue, which may include dental papilla.


Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see HYPOXIA, BRAIN). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of CSF flow (e.g., obstructive HYDROCEPHALUS). (From Childs Nerv Syst 1992 Sep; 8(6):301-6)


Inability to produce voice sounds
Dysphonia

Difficulty and/or pain in PHONATION or speaking.


Epileptic spasms
Salaam convulsion
Salaam seizures
Salaam seizure
Epileptic spasm

A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages [HPO:jalbers, PMID:28276060]


Isolated patches of hardened skin (scleroderma). [HPO:probinson]


Amniotic constriction band
Congenital constriction band sequence
Amniotic bands

One or more strands of fibrous amniotic tissue that can wrap around the fetus, causting constriction resulting in anatomic malformation.


Abnormally high level of red blood cells in the blood.


A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. [HPO:probinson]


A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage. [ISBN-13:978-0199679980]


Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe). [UKB:tklockgether]


Congenital glaucoma that arises independent of another pathologic process, disease, or injury.


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


Decreased number of granulocyte precursors in the bone marrow. [HPO:akelly]


Pneumonia resulting from infection with Pneumocystis jirovecii, frequently seen in the immunologically compromised, such as persons with AIDS, or steroid-treated individuals, the elderly, or premature or debilitated babies during their first three months. Patients may be only slightly febrile (or even afebrile), but are likely to be extremely weak, dyspneic, and cyanotic. This is a major cause of morbidity among patients with AIDS.


GI inflammation
Gastrointestinal inflammation

Inflammation of the alimentary part of the gastrointestinal system. []


Increased circulating chylomicron levels

Increased circulating chylomicron concentration

Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. [HPO:probinson, MP:0009699]


A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.


Fractured lower leg
Fracture of the lower leg
Lower extremity fracture

A traumatic break in one or more of the bones in the hip, thigh, leg, or foot.


A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. [PMID:24097136]


Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.


Loss or disturbance of limbal STEM CELL function in the CORNEAL LIMBUS resulting in inability to self-renew CORNEAL EPITHELIUM and conjunctivalized corneal surface.


Lens of the eye is smaller than normal and spherically shaped. []


Four-vessel umbilical cord containing two arteries and two veins. [PMID:21391749]


A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. [HPO:probinson]


Eyelids stay open at night
Inability to close the eyelids at night


Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. [PMID:20029143]


A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


An outward deviation of the foot at the talocalcaneal or subtalar joint. []


A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. [HPO:probinson]


A congenital abnormality characterized by the absence of both kidneys.


Pharyngeal spasms provoked by an attempt to drink. [PMID:30564365]


Nail whose growth pattern or speed deviates from normal. [HPO:probinson]


An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. [HPO:probinson]


GI telangiectasia
Small, enlarged blood vessels near skin

Telangiectasia affecting the gastrointestinal tract. [HPO:probinson]


A congenital or acquired hyperplasia of the cells of the adrenal cortex or medulla.


The most malignant astrocytic tumor (WHO grade 4). It is composed of poorly differentiated neoplastic astrocytes and is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation, and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. (Adapted from WHO)


Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. [DDD:gblack]


A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)


Hypersensitivity in form of an adverse immune reaction against alpha-gal. []


The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). [Eurenomics:fschaefer, PMID:30571025]


Trapping and compression of the rotator cuff tendons during shoulder movements. [HPO:probinson]


A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity. []


Location of the urethral opening on the inferior aspect of the penis. [HPO:curators]


A piece of food that has gotten stuck in the esophagus and prevents further swallowing. [PMID:21960934]


The presence of abnormal calcium deposition in the liver. [HPO:probinson]


Repetitive and compulsive picking of skin which results in tissue damage. [HPO:probinson, PMID:20575652]


Spontaneous development of hematomas (hematoma) or bruises without significant trauma. [DDD:akelly]


Upper limb muscle weakness
Decreased arm strength

A reduction in the strength of the upper limb muscles.


An inflammatory lesion comprised of lipoid material.


A benign neoplasm characterized by the presence of spindle-shaped fibroblasts surrounding the hair follicle.


A benign tumor usually arising in the face, trunk or thighs.


A disease caused by hyperplastic process of non-transformed prostatic cells.


Leukoplakic lesions related to abnormal keratin fiber formation.


A slow-growing, usually solitary, dome-shaped benign sweat gland adenoma, most frequently located on the eyelid. It is characterized by a cystic proliferation of apocrine glands. Surgical excision is curative.


A common benign hyaline cartilage neoplasm arising in the intramedullary bone. It is characterized by the presence of chondrocytes, low mitotic activity, and in some cases, a nodular pattern and calcification. The small bones of the hands and feet are the most frequently affected sites.


A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.


The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules.


Abnormality of ion homeostasis
Abnormal blood ion concentration
Electrolyte disorders

A metabolic disorder that is characterized by electrolyte imbalances (e.g., hyperkalemia, hypokalemia, and hypercalcemia).


Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. [HPO:probinson]


An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to renal cell carcinoma, leiomyomas of the skin and uterus, and leiomyosarcoma of the uterus.


Myocardial or conduction system hamartoma

Infantile cardiomyopathy with histiocytoid changes

A hamartomatous lesion of the sinoatrial node, atrioventricular node, and Purkinje fibers of the cardiac conducting system. It occurs predominantly in the first two years of life. Most patients present with arrhythmias and electrical disturbances. It is characterized by the presence of multifocal, poorly defined islands of large polygonal cells with a granular eosinophilic cytoplasm, a small round to oval-shaped nucleus, and occasional nucleoli. The cytoplasmic appearance is due to extensive accumulation of mitochondria. If left untreated, this condition is usually fatal. However, the outcome has improved over the past two decades due to developments in surgical intervention, electrophysiological mapping, and ablation of the arrhythmogenic foci, with a survival rate of approximately 80%. (WHO 2015)


The manner in which a particular genetic trait or disorder is passed from one generation to the next.


Keratocysts of the jaw
Keratocystic odontogenic tumor
Odontogenic keratocysts of the jaw

A developmental cyst that arises from remnants of the dental lamina. It is characterized by a thin, regular lining of parakeratinized stratified squamous epithelium with palisading hyperchromatic basal cells. It occurs most frequently in the mandible. Most lesions present as painless radiolucencies and are found incidentally during radiographical examination for other reasons. Treatment is most often by enucleation, or by surgical resection for large lesions. Recurrences were more frequent in the past but are dramatically reduced with meticulous treatment. (WHO 2017)


Philadelphia-positive acute lymphoblastic leukemia

Ph-positive acute lymphoblastic leukemia

Philadelphia-positive acute lymphoblastic leukaemia

A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.

Ph-positive acute lymphoblastic leukaemia


A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). []


Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). [ORCID:0000-0003-0986-4123]


Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. [PMID:20920826]


A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. [HPO:probinson]


Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. [HPO:probinson]


Astigmatism with more plus power on the horizontal meridian. []


Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin. [PMID:19682623]

Posterior crocodile shagreen of the cornea


Abnormality of retinal pigment epithelium

Abnormality of the retinal pigment epithelium


Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane. []


Hydrocele testis
Hydrocele
Testicular hydrocele

Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM.


An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.


A variant of central retinal vein occlusions that involves the superior or inferior half of the retina. [PMID:22069354, UManchester:psergouniotis]


Acromegalic growth
Acral hypertrophy
Acral enlargement

Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement. [PMID:27477558, PMID:27812777, PMID:30853479]


Anomalous origin of left coronary artery from the pulmonary artery

Anomalous left coronary artery from the pulmonary artery

A congenital coronary vessel anomaly in which the left main CORONARY ARTERY originates from the PULMONARY ARTERY instead of from AORTA. The congenital heart defect typically results in coronary artery FISTULA; LEFT-SIDED HEART FAILURE and MITRAL VALVE INSUFFICIENCY during the first months of life.


Recurrent venous thrombosis
Recurrent deep vein blood clot

Repeated episodes of the formation of a blot clot in a deep vein. [HPO:probinson]


Longstanding abnormal acid accumulation or depletion of base. [ORCID:0000-0001-5208-3432]


Recurrent mycobacterium avium complex infections

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


Abnormally increased variability in the size of platelets. [PMID:18065693]


A transient left ventricular apical dysfunction or ballooning accompanied by electrocardiographic (ECG) T wave inversions. This abnormality is associated with high levels of CATECHOLAMINES, either administered or endogenously secreted from a tumor or during extreme stress.


An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. [HPO:curators]


Conjunctival injection
Conjunctival hyperaemia
Conjunctival hyperemia

Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. []


Yellowish discoloration of the nails. [DDD:cmoss]


Cerebrospinal fluid with increased protein

Increased concentration of protein in the cerebrospinal fluid. [KI:phemming, PMID:29114301]


Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. [HPO:curators]


Kidney degeneration on one side
Unilateral kidney wasting

A unilateral form of atrophy of the kidney. [HPO:probinson]


Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. [ORCID:0000-0003-0986-4123]


Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. [UToronto:bgallinger]

Partial absence of the septum pellucidum


Wide-spaced nipples
Widely-spaced nipples
Wide intermamillary distance

A larger than usual distance between the left and right nipple. [HPO:probinson]


The presence of Neurofibromas in the subcutis. [HPO:sdoelken]


Episodic hyperventilation
Intermittent overbreathing


Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. [DDD:gblack]


An extremely rare, benign or malignant mesenchymal tumor arising from soft tissue or bone. It is a distinctive tumor, usually displaying the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called oncogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor.


Hypoplastic humerus
Humeral hypoplasia
Humeral shortening
Short long bone of upper arm
Short upper arms
Short humerus
Short humeri

Underdevelopment of the humerus. [HPO:probinson]


Short fibulae
Hypoplastic fibula
Short calf bone
Short fibula

Underdevelopment of the fibula. [HPO:probinson]


Square face
Square facies
Square facial shape

Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. [PMID:19125436]


An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. [HPO:probinson]


Reduction in density of metaphyseal bony tissue. [HPO:probinson]


Poor temperature regulation
Abnormality of temperature regulation

An abnormality of temperature homeostasis. [HPO:probinson]


Faltering weight secondary to recurrent infections

Weight faltering secondary to recurrent infections

Failure to thrive secondary to recurrent infections

Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. [https://en.wikipedia.org/wiki/Failure_to_thrive]


Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. [HPO:probinson]


A reduction in the number of axons in the peripheral nervous system. [DDD:probinson]


Intraaxonal accumulation of curvilinear profiles


Slow rate of hair growth
Slow speed of hair growth
Slow-growing hair
Slow growing hair

Hair whose growth is slower than normal. [HPO:probinson]


A type of age-related cataract that primarily affects the nucleus of the lens. [HPO:probinson, PMID:15708105]


Decreased density/number of eyebrow hairs. [HPO:skoehler, PMID:19125427]


Hyperostosis of cranial bones
Hyperostosis of cranial vault
Increased ossification of cranial bones

Excessive growth of the bones of cranium, i.e., of the skull. [HPO:probinson]


Underdevelopment of the sweat glands. [HPO:curators]


The presence of one or more herniated nucleus pulposus of intervertebral disk. [HPO:probinson]


Narrow interpedicular space
Narrow interpediculate distances
Interpedicular narrowing
Narrowing of interpediculate distances

Narrow vertebral interpedicular distance

A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. [HPO:probinson]


Dysfunction of lateral corticospinal tracts


A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11.


Absence of acoustic middle ear muscle reflexes

Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. [HPO:probinson]


Absent or minimally ossified vertebral bodies


Bony outgrowths that extend laterally from the margin of the metaphysis. [HPO:probinson]


Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. [PMID:7528239]


Abnormally low level of cortisol in the blood.


Small intestine biopsy shows villous atrophy


A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. [HPO:probinson, HPO:vkumar]


Contractures of the elbows
Contracture of elbow joint


Slender long bone
Slender, gracile long tubular bones
Long bones slender
Gracile long bones
Thin gracile long bones
Thin, gracile long bones
Slender long bones
Thin long bones

Reduced diameter of a long bone. [HPO:probinson]


Distal shortening of ulna
Hypoplastic distal ulna

Underdevelopment of the distal portion of the ulna. [HPO:probinson]


Length of the thumb is greater than normal. [PMID:7246605]


Shovel-shaped upper front teeth
Shovel tooth

Shovel-shaped maxillary central incisors

A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces. [PMID:2212205, PMID:31468724]


Abnormal delayed hypersensitivity skin test

Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. [HPO:probinson]


Absent microvilli on the surface of peripheral blood lymphocytes

Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. [PMID:15130947]


Spontaneous detachment (amputation) of an appendage from the body. [HPO:probinson]


Dystrophic toenails
Poor toenail formation
Dystrophic toenail changes

Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. [HPO:probinson]


Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. [HPO:sdoelken]


Abnormal thinning of the cortical region of bones. [HPO:curators]


A generalized decrease in bone mineral density. [HPO:curators]


Widened, distorted epiphyses
Large epiphyses
Large end part of bone

Increased size of epiphyses. [HPO:probinson]


A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). [HPO:probinson]


Lambdoidal craniosynostosis
Lambdoid suture synostosis

Premature fusion of one of the lambdoid sutures.


Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. []


An increased concentration of 2-hydroxyglutaric acid in the urine. [HPO:probinson, PMID:20847235]


Subependymal pseudocyst
Subependymal germinolytic cyst

Cerebral periventricular cyst located on the floor of the lateral cerebral ventricle, most commonly in the caudothalamic groove, and results from regression of the germinal matrix or as a sequela of a prior subependymal hemorrhage or germinal matrix infarct.


Multifocal cerebral white matter abnormalities


Increased serum bone-specific alkaline phosphatase

Elevated alkaline phosphatase of bone origin

An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. [HPO:probinson]


Oxalate nephrolithiasis
Ca oxalate kidney stone
Calcium oxalate nephrolithiasis
Ca2+ oxalate urolithiasis
Ca2+ oxalate nephrolithiasis
Ca oxalate nephrolithiasis
Calcium oxalate urolithiasis
Ca oxalate urolithiasis

Urolithiasis in which the composition of the stones is predominantly calcium oxalate.


Osteolysis affecting carpal bones. [HPO:probinson]


Tarsal bone osteolysis
Tarsal osteolysis

An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. [HPO:sdoelken]


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


A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. [PMID:23444103]


Bowing of thighbone at birth, straightening with time

Femoral bowing present at birth, straightening with time

Congenital onset bending or abnormal curvature of the femur that normalizes with age. [HPO:probinson]


Poorly ossified calvarium
Poorly ossified calvaria
Undermineralized calvarium
Soft calvaria
Soft skullcap

Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). [DDD:awilkie, HPO:probinson, ORCID:0000-0001-8612-1062, PMID:31173381]


A progressive form of ptosis. [HPO:probinson]


Symphalangism of the distal and proximal phalanges of the thumb

Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. [HPO:probinson, PMID:22379556]


Absent/small middle bone of pinky finger

Absent/underdeveloped middle bone of pinky finger

Absent/underdeveloped middle bone of little finger

Absent/underdeveloped middle bone of pinkie finger

Absent/hypoplastic middle phalanx of 5th finger

Aplasia/Hypoplasia of the middle phalanx of the 5th finger

Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. [HPO:curators]


Deficiency of facial musculature
Underdevelopment of facial muscles
Decreased size of facial muscles

Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). [HPO:probinson]


Hypoplastic alar nasae
Thin hypoplastic alae nasi
Decreased size of nasal alae
Small nasal alae
Hypoplastic alae nasi
Hypoplastic nostrils
Hypoplastic alar cartilage
Underdeveloped tissue around nostril
Alar cartilage hypoplasia
Nasal cartilage hypoplasia
Hypoplastic nasal wings
Hypoplastic nasal alae
Hypoplastic nares
Hypoplastic alae nasae
Ala nasi, underdeveloped

Thinned, deficient, or excessively arched ala nasi. [PMID:19152422]


Excessive growth of the bones of the vertebral bodies. [HPO:curators]


Hypoplastic middle phalanx of the 5th finger

Hypoplastic/small middle phalanx of the little finger

Hypoplastic/small middle phalanx of the 5th finger

Short middle phalanx of the little finger

Hypoplastic/small middle phalanx of the fifth finger. [HPO:skoehler, PMID:18494372]


Webbed 3rd-4th toes
syndactyly of 3rd - 4th toes

Syndactyly with fusion of toes three and four. [HPO:sdoelken]


A broad chest. [HPO:probinson, PMID:22368597]


Abnormal vertebrae
Abnormality of the vertebrae
Vertebral anomalies

An abnormality of one or more of the vertebrae. [HPO:probinson]


Spinal nerve root neurofibromas, symmetric, multiple

Symmetric spinal nerve root neurofibromas

Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. [HPO:probinson]


The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. []


Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. []


Hypertrophy of the stomach. [HPO:probinson]


Periosteal thickening of long tubular bones

Thickening of the periosteum of long bone. [HPO:probinson]


Proximal phalangeal periosteal thickening


Thickening of the lateral border of the shoulder blade

Thickening of the lateral border of the scapula


Hypoplastic glenoid fossa
Glenoid hypoplasia

Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. [HPO:probinson]


Small first rib
Hypoplastic first rib
Underdeveloped first rib
Hypoplastic first ribs


Abnormal pigmentation of the iris. [HPO:probinson]


Disproportionate prominence of the femoral medial condyle


Atypical nail growth
Nail dysplasia
Dysplastic nails

The presence of developmental dysplasia of the nail. [HPO:probinson]


Obsessive-compulsive trait
Obsessive-compulsive traits

The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. [HPO:curators]


Transient myeloproliferative disorder
Transient myeloproliferative syndrome
TMD
Transient leukemia of Down syndrome

A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.


Hyporeflexia/areflexia in lower limbs
Hyporeflexia, lower limbs
Hyporeflexia of the lower limbs
Hyporeflexia in lower limbs

Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. [HPO:probinson]


Malignant GU tract tumor
Malignant genitourinary tract tumour
Malignant GU tract tumour

The presence of a malignant neoplasm of the genital system. [HPO:probinson]


Cutaneous syndactyly of feet
Webbed skin of toes
soft tissue syndactyly of toes

A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. [HPO:probinson, PMID:19125433]


A developmental defect characterized by fusion of the left and right halves of the thalamus. [HPO:probinson]


Renal cystic dysplasia
Renal dysplasia, cystic


Type 1 truncus arteriosus
Persistent truncus arteriosus type I

Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. [DDD:dbrown, HPO:probinson]


Coronal vertebral clefts
Coronal clefts
coronal cleft of vertebrae
Vertebral coronal clefts

Frontal schisis (cleft or cleavage) of vertebral bodies. [HPO:probinson]


Flattened, squared-off end part of tubular bones

Flattened, squared-off epiphyses of tubular bones


Metaphyseal cupping of proximal phalanges

Metaphyseal cupping affecting the proximal phalanges. [HPO:curators]


Increased cytoplasmic staining of fibroblasts with toluidine blue. [HPO:probinson, PMID:4195824]


Increased width of permanent upper central incisor

Increased width of permanent maxillary central incisor

Macrodontia of permanent maxillary central incisor

Increased size of the maxillary central secondary incisor tooth. [HPO:ibailleulforestier]


Increased front to back length of eyeball

Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. [DDD:ncarter]


Premature osteoarthritis
Premature arthritis


Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. [HPO:probinson, PMID:23587525]

Premature calcification of mitral annulus


Hypotrichosis of lower eyelashes
Scanty lower eyelashes
Thin lower eyelashes
Sparse lower eyelashes
Partial absence of lower eyelashes


Large corpus callosum
Abnormal size of corpus callosum

Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. [KI:phemming, PMID:10029348]


Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. [HPO:probinson]


Nails whose growth is slower than normal. [HPO:probinson]


Loss of subcutaneous truncal adipose tissue

Loss of truncal subcutaneous adipose tissue

Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. [HPO:probinson]


Increased IM fat
Increased intramuscular fat

An abnormal increase in the amount of intramuscular fat tissue. [HPO:curators]


An abnormal increase in the amount of intraabdominal fat tissue. [HPO:curators]


Progressively increasing bone density of the skull base without significant changes in bony contour. [HPO:probinson]


Thickening of shaft or central part of long bones


Cervical vertebrae hypoplasia
Underdeveloped cervical vertebrae


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


Delayed coalescence of calcaneal ossification centers

Delayed coalescence of calcaneal ossification centres

Delayed coalescence of bipartite calcanei

A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. [HPO:probinson]


Multiple circumscribed bony excrescences located in the ribs. [HPO:probinson]


Postnatal onset of mild growth retardation

A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. [DDD:hfirth]


Multiple exostoses of long tubular bones

Multiple exostoses originating in long bones. [HPO:probinson]


Absent/underdeveloped tear glands
Absent/underdeveloped lacrimal glands

Absence or underdevelopment of the lacrimal gland. [HPO:probinson]


Hyperkeratosis, palmoplantar, focal friction-related

Focal friction-related palmoplantar hyperkeratosis

Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. [HPO:probinson]


Recurrent episodes of infectious dermatitis

Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. [HPO:probinson]


Widely spaced upper incisors
Gap between upper front teeth
Diastasis of the central incisors
Separated superior central incisors
Wide upper central incisors
Wide gap between upper central incisors

Widely-spaced maxillary central incisors

Increased distance between the maxillary central permanent incisor tooth. [HPO:ibailleulforestier]


A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. [HPO:probinson]


Ectopic kidney with fusion
Crossed-fused renal ectopia

A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. [HPO:probinson]


The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. [HPO:probinson]


Eversion of lateral third of lower eyelids


Prominent fingertip pads
Persistent foetal fingertip pads
Prominent finger pads
Persistent fetal fingertip pads
Persistence of fingerpads

A soft tissue prominence of the ventral aspects of the fingertips. The term persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:probinson]


IgD hypergammaglobulinemia
Elevated serum IgD
Elevated IgD
Increased serum IgD
Increased levels of IgD
Increased IgD level

An abnormally increased level of immunoglobulin D in blood. []


A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). [HPO:probinson]


Intermittently increased size of the liver. [HPO:probinson]


Intermittently increased size of the spleen. [HPO:probinson]


Face with broad temples and narrow chin
Triangular facial shape
Triangular face
Triangular facies

Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. [DDD:jclayton-smith, PMID:19125436]


A situation in which phenotypic abnormalities become evident with age. [HPO:probinson]


Loss of ability to walk in early childhood


Decreased activities of mitochondrial-encoded respiratory chain complexes


Facial paresis, bilateral
Bilateral facial weakness

Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). [HPO:probinson]


Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee). []


A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. []


Difficulty to maintain correct position of the head while standing or sitting. [HPO:probinson]


Increased height of face
Long face
Increased length of face
Vertical enlargement of face
Vertical overgrowth of face
Vertical elongation of face
Elongation of face
Vertical Facial Excess
Vertical hyperplasia of face
Long facies
Vertical excess of face

Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). [PMID:19125436]


Fibre splitting
Muscle fibre splitting
Fiber splitting

Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. [PMID:6123177]


Symptoms present at birth
Onset at birth

A phenotypic abnormality that is present at birth. [HPO:probinson]


A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. [HPO:probinson]


Abnormality of equilibrium
Abnormality of balance
Imbalanced walk


Lack of strength of the proximal muscles that becomes progressively more severe. [HPO:probinson]


Involuntary dystonic or choreiform movements


Short neck of thighbone
Short femoral necks
Hypoplastic femoral neck
Hypoplasia of the femoral neck

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


Absent calf bone
Absent-hypoplastic fibulae
Absent fibulae


Wide innermost wide portion of shankbone bone

Wide innermost wide portion of shinbone bone


Radially deviated phalanges
Radially deviated fingers

Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. [HPO:probinson, PMID:19125433]


Aplasia/Hypoplasia involving the metacarpal bones

Absent/underdeveloped long bones of hand

Aplasia or Hypoplasia affecting the metacarpal bones. [HPO:curators]


Stubby toes
Short toes
Short toe
Brachydactyly of the foot
Hypoplasia of the toe
Hypoplastic toes
Short foot phalanges

A toe that appears disproportionately short compared to the foot. [HPO:probinson]


Fused innermost and middle bones of pinkie finger

Fused innermost and middle bones of little finger

Fused innermost and middle bones of pinky finger

Symphalangism of the proximal and middle phalanges of the 5th finger

Proximal/middle symphalangism of 5th finger

Fusion of the proximal and middle phalanges of the 5th finger. [HPO:curators]


Absent/underdeveloped big toe
Aplastic/hypoplastic halluces
Absent/small big toe

Absence or underdevelopment of the big toe. [HPO:curators]


hallucal symphalangism
Fused big toe bones

Symphalangism affecting the phalanges of the hallux


Absent carpal ossification center
Aplastic carpal bone
Absent carpal bone
Absent carpal ossification centre
Absent carpal bones

Congenital absence of a carpal bone. [HPO:probinson]


Congenital drooping of both upper eyelids


Lower extremity weakness
Lower limb weakness
Lower limb muscle weakness

A reduction in the strength of the lower limb muscles.


Generalised joint laxity
Hypermobility of all joints
Joint laxity, generalised
Joint laxity, generalized

Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. [HPO:curators]


Proximal femoral metaphyseal irregularity

Irregularity of the normally smooth surface of the proximal metaphysis of the femur. []


Uncoordinated eye movement
Dysmetric eye movements
Dysmetric eye saccades

The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. [HPO:probinson, PMID:572501]


Impaired smooth pursuit ocular movements

An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. [HPO:probinson]


Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). [HPO:probinson, PMID:24079682]


Muscle weakness, lower limb, distal
Distal muscle weakness in lower limbs

Reduced strength of the distal musculature of the legs. [HPO:probinson]


Lower leg amyotrophy
Lower limb degeneration
Muscle atrophy, lower limb, distal

Muscular atrophy of distal leg muscles. [HPO:probinson]


Saccadic pursuit movements
Saccadic slow pursuit

An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. [HPO:probinson]


Generalised tonic seizures
Generalised tonic seizure
Generalized tonic seizures
Hypertonic seizures
Generalised hypertonic seizure
Generalized hypertonic seizure

A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. [HPO:jalbers, HPO:probinson, PMID:11580774, PMID:28276060, PMID:28276064]


White mater abnormalities in the posterior periventricular region


Distal sensory impairment of all modalities

Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. []


Increased urinary O-linked sialopeptides

Excretion of peptides conjugated to sialic acid in the urine. [HPO:probinson]


Flat nasal root
Low nasal bridge
Low nasal root
Depressed nasal root
Retruded bridge of nose
Depressed nasal bridge
Flat, nasal bridge
Flat nasal bridge
Flattened nasal bridge
Flat bridge of nose
Depressed bridge of nose
Retruded nasal bridge

Posterior positioning of the nasal root in relation to the overall facial profile for age. [PMID:19152422]


Thick vermilion border
Increased volume of lip vermillion
Plump lips
Prominent lips
Full lips
Thick lips

Increased width of the skin of vermilion border region of upper lip. [HPO:probinson]


Silver-gray hair color
Silver-gray hair colour
Silvery-gray hair
Silver-gray hair

Hypopigmented hair that appears silver-gray. [HPO:probinson]


Reduced ability to move the femur outward to the side. [HPO:probinson]


A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. [HPO:probinson]


Head circumference large for gestational age

An abnormal enlargement of the head, including the scalp, the cranial bone, and the contents of the cranium that is present at the time of birth; representative examples include tuberous sclerosis, neurofibromatosis, and various other genetic causes.


A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. [HPO:probinson]


Muscle weakness, distal, progressive
Muscle weakness, progressive, distal

Progressively reduced strength of the distal musculature. [HPO:curators]


Plasma cortisol low
Hypocortisolemia
Low blood cortisol level
Decreased circulating cortisol level
Decreased cortisol production
Low to undetectable plasma cortisol

Abnormally reduced concentration of cortisol in the blood. [HPO:probinson]


An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. [HPO:probinson]


Generalised arterial tortuosity
Arterial tortuosity, generalised
Arterial tortuosity, generalized
Generalized twisted arteries
Generalised twisted arteries

Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. [HPO:probinson]


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


Hypoplastic/small terminal phalanx of the little finger

Fifth digit distal phalangeal hypoplasia

Short distal phalanx of the fifth finger

Hypoplastic/small distal phalanx of the fifth finger. [HPO:sdoelken]


Malformed ossicles
Ossicular malformation

An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). [HPO:probinson]


Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). [HPO:probinson]


Increased deep tendon reflexes in the lower limbs


Patchy loss of skin colour
Patchy loss of skin color


Pale eyelashes
Depigmented eyelashes
Blonde eyelashes
White eyelashes

White color (lack of pigmentation) of the eyelashes. [DDD:cmoss]


Depigmented eyebrow
White eyebrow
Hypopigmented eyebrow
Pale eyebrow

White color (lack of pigmentation) of the eyebrow. [HPO:probinson]


Lack of measurable response to stimulation of auditory evoked potentials. [HPO:probinson]


Abnormal speech discrimination
Poor speech discrimination

A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. [HPO:curators]


Amyotrophy involving the thigh
Amyotrophy of the thigh musculature
Proximal lower limb muscle atrophy
Thigh muscle atrophy
Wasting of thigh muscle

Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. [HPO:probinson]


Decreased range of movement range in hinge joints

Decreased movement range in interphalangeal joints


Excessive bending, twisting, and winding of a cerebral artery. [HPO:probinson]


Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). []


Developmental stagnation at onset of seizures

A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. [HPO:probinson]


Reversion to an earlier stage of development.


Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. [HPO:probinson]


Loss of previously present mental and motor abilities. [HPO:probinson]


Progressive inability to walk in a person who previous had the ability to walk. []


'Fingerprint profiles' ultrastructurally in cells

Fingerprint intracellular accumulation of autofluorescent lipopigment storage material

An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. [HPO:probinson]


'Curvilinear profiles' ultrastructurally in cells

Intracellular curvilinear profiles on ultrastructural analysis

Curvilinear intracellular accumulation of autofluorescent lipopigment storage material

An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. [HPO:probinson]


Vacuolated lymphocytes
Vacuolated blood lymphocytes

The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. [HPO:probinson, PMID:20633042]

Enlarged lysosomal vacuoles in lymphocytes


Increased width of the ischium, which forms the lower and back part of the hip bone. [HPO:probinson]


Irregular patellar contour
Irregular patellar margins

An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour. [HPO:probinson]


Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. [HPO:probinson]


Decrease in mass and density of the metatarsal bones. [HPO:probinson]


Underdevelopment of the ciliary body. [HPO:probinson]


Abnormal 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]


Bone corpuscle fundus pigmentation
Retinal pigmented bone spicules
Fundus with peripheral bony spicules
Retinal bone corpuscle pigmentation
Retinal 'bone corpuscle' pigmentation

Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). [HPO:probinson]


Placement of the nipples at a lower than normal location. [HPO:probinson]


Increased nuchal fold thickness
Excess nuchal skin
Thick nuchal fold
Thickened skin over the neck
Increased nuchal fold
Thickened nuchal skin
Thickened skin folds of neck

A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. [HPO:probinson, PMID:16100637, PMID:30431620]


Reduced upper-lower segment ratio
Disproportionate tall stature
Marfanoid body habitus

A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. [DDD:hfirth, HPO:probinson]


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


Bowed shinbone
Bowing of the tibia
Bowed tibia
Bowed shankbone

A bending or abnormal curvature of the tibia. [HPO:probinson]


Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. [HPO:probinson]


Metacarpal hypoplasia
Shortened long bone of hand
Brachymetacarpalia
Shortened metacarpals
Hypoplastic metacarpal
Shortening of metacarpals
Short metacarpal bones
Shortened long bones of hand
Short metacarpal

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. [PMID:19125433]


Increased susceptibility to fatigue. [HPO:probinson]


An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. [HPO:pnrobinson]


The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. [HPO:probinson]


Cerebral hemorrhage that occurs before birth. [HPO:probinson]


Heterotopias/abnormal migration
Migrational brain disorder
Abnormality of neuronal migration
Abnormal neuronal migration

A diverse group of congenital brain developmental disorders characterized by defects in neuronal migration in the brain during early fetal development. The neuronal migration defects result in brain abnormalities that are usually manifested with mental retardation and epilepsy.


A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma. Unlike microvesicular steatosis, the fat accumulation displaces the nucleus of the hepatocytes, creating a characteristic signet-ring appearance.


Prominent forehead
Protruding forehead
Prominence of frontal region
Pronounced forehead

Forward prominence of the entire forehead, due to protrusion of the frontal bone. [PMID:19125436]


Fat deposits in muscle fibers
Increased muscle lipid content
Fat deposits in muscle fibres
Fat accumulation in muscle fibers
Lipid accumulation in skeletal muscle
Skeletal muscle lipid accumulation
Muscle lipidosis
Fat accumulation in muscle fibres

An abnormal accumulation of lipids in skeletal muscle. [HPO:probinson, PMID:20691590]


An increase in the level of long-chain dicarboxylic acid in the urine. [ORCID:0000-0001-5208-3432]


Underdevelopment of the toenail. [HPO:probinson]


Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. [HPO:probinson]