The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. [HPO:probinson, PMID:12360233]


Big cheeks
Full cheeks
Large cheeks
Apple cheeks
Increased size of cheeks

Increased prominence or roundness of soft tissues between zygomata and mandible. [DDD:awilkie]


A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. [PMID:19125433]


Sparse scalp hair at front of head
Thin scalp hair at front of head

Decreased number of head hairs per unit area on the anterior region of the scalp. [HPO:probinson]


Loss of previously present motor (i.e., movement) abilities. [HPO:probinson]


Partial/complete duplication of the phalanges of the big toe


Deep smile lines
Prominent laugh lines
Deep nasolabial fold
Deep laugh lines
Deep nasolabial crease
Prominent nasolabial groove
Nasolabial crease, prominent
Deep nasolabial groove
Prominent smile lines

Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). [PMID:19125428]


Renal juxtaglomerular cell hypertrophy/hyperplasia

Increased number and size of the juxtaglomerular cells. [Eurenomics:ewuehl]


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


Low-to-normal BP
Low-to-normal blood pressure


Abnormality of colour of lateral incisor

The presence of discolored lateral incisors. [HPO:ibailleulforestier]


Tympanic nerve tumour
Tympanic nerve tumors
Tympanic nerve tumours
Tympanic nerve tumor


Basal lamina 'onion bulb' formations on nerve biopsy

A type of onion bulb formation prominently affecting the area of the basal lamina. [HPO:probinson]


A form of stapes ankylosis with congenital onset. [HPO:probinson]


Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. [HPO:probinson]


Bucket handle fracture
Metaphyseal corner fracture

Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. [PMID:15206413, PMID:20544318]


Small sacroiliac notch
Shortened sacroiliac notches
Short sacroiliac notch

The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. [HPO:probinson]


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


Disproportionately short upper portion of limb

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


Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. [HPO:probinson, PMID:16167086]


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


Degeneration of the spinocerebellar tracts


Abnormal horizontal ocular pursuit
Impaired horizontal visual pursuit

An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. [HPO:probinson]


Nerve conduction abnormalities
Abnormal nerve conduction
Abnormal nerve conduction velocity


A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. [HPO:probinson]


A unilateral form of ptosis. [HPO:probinson]


Diminished or absent deep tendon reflexes

Hypoactive to absent deep tendon reflexes

Absent or decreased deep tendon reflexes

Decreased to absent deep tendon reflexes

Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. [HPO:probinson, PMID:20941667]


Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. [HPO:probinson]


Restricted neck mobility due to contractures

Restricted neck movement due to contractures


Abnormally big lacrimal glands. [HPO:probinson]


Absent lacrimal openings
Lacrimal puncta aplasia
Lacrimal punctum, absence
Absent lacrimal puncta
Absent lacrimal gland puncta
Absent lacrimal punctum

No identifiable superior and/or inferior lacrimal punctum. [PMID:19125427]


Limited extension at elbows
Elbow limited extension
Limited forearm extension
Limited elbow extension
Restricted elbow extension
Limitation of elbow extension
Decreased elbow extension

Limited ability to straighten the arm at the elbow joint. [HPO:probinson]


Abnormally broad great toes
Wide big toe
Broad big toe
Broad great toes
Broad great toe
Broad halluces

Visible increase in width of the hallux without an increase in the dorso-ventral dimension. [PMID:19125433]


Plantar crease between first and second toes

The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. [HPO:probinson]


A type of tremors that is triggered by holding an arm in a fixed position. [HPO:probinson]


Deposition of calcium salts in the retina. [HPO:probinson]


A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. [HPO:probinson]


An abnormal increase in magnitude of the pressure in the right atrium. [PMID:25211049]


Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. []


Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. [HPO:probinson]


Short-limb dwarfism identifiable during childhood

Childhood onset short-limb short stature


A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). [HPO:probinson]


Premature coronary artery atherosclerosis

Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. [PMID:28070240]


Fine motor skill dysfunction
Fine motor impairment
Fine motor disability
Poor fine motor coordination

An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. []


Failure to thrive in first year of life
Weight faltering in infancy
Faltering weight in infancy


Partial-complete absence of 5th digital bone

Partial-complete absence of 5th phalanges


Absent 5th long bone of hand
Absent 5th metacarpal

Absence of the fifth long bone of the hand. [HPO:curators]


Osseous fusion of the lunate and triquetrum. [PMID:23853014]


Aplasia of the fifth metatarsal bone
Absent 5th metatarsals
Absent 5th long bone of foot

A developmental abnormality characterized by the absence of the fifth metatarsal bone. [HPO:probinson]


Increased incidence of hepatocellular carcinoma


Proximal polyposis of the stomach
Gastric polyposis
Fundic gland polyps

Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. [PMID:20567540]


Precocious puberty with Sertoli cell tumour

Precocious puberty with Sertoli cell tumor


Multiple colonic adenomatous polyps
Multiple adenomatous colon polyps

Presence of multiple adenomatous polyps in the colon. [HPO:probinson]


Excessive bone growth of the skull and face

Increased ossification of craniofacial bones

Excessive growth of the craniofacial bones. [HPO:probinson]


Aplasia (congenital absence) of the pectoralis minor. [HPO:probinson]


Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula. [HPO:curators]


Underdevelopment of the deltoid muscle. [Neuromics:vstraub]


Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. [DDD:kfreeson]


Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation. [HPO:probinson]


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


Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. [HPO:probinson]


Decreased sweating due to autonomic dysfunction


Orthostatic hypotension due to autonomic dysfunction


Marked retardation in skeletal maturation


Broad, arched eyebrows
High, rounded eyebrows
Highly arched eyebrow
High arched eyebrows
High-arched eyebrows
Thick, flared eyebrows
Arched eyebrows

Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. [PMID:19125427]


Fused end and middle bones of pinky finger

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

Fused end and middle bones of pinkie finger

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

Fifth finger distal interphalangeal joint symphalangism

Fused end and middle bones of little finger

Distal/middle symphalangism of 5th finger

Fusion of the terminal/distal and middle phalanges of the 5th finger. [HPO:curators]


Hypoplastic or absent patella
Aplastic or hypoplastic patellae
Absent or hypoplastic patellae
Absent/small kneecap
Patellar aplasia/hypoplasia
Aplasia/Hypoplasia of the patella
Absent/hypoplastic patella
Small to absent patellae

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


Absent kneecap
Patellar aplasia
Absent patellae
Aplastic patellae
Absent patellas


A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance.


Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. [PMID:22987687, UToronto:htrang]


A disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches.


Underdevelopment of the vertebral artery. []


A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea. [PMID:32309132]


A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities.


Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils. [PMID:23730155, PMID:6724778]


A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. [COST:neuromig]


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


Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. [HPO:probinson, PMID:15763524]


A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.


Nuclear or cytoplasmic aggregates of substances in red blood cells. []


Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations. [ORCID:0000-0002-4095-8489, PMID:12244005]


Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. [PMID:8779318]


A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. [HPO:probinson, PMID:8770251]


Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.


A subtype with ventricular septal defect clearly away from the semilunar valves of the AORTA and the PULMONARY ARTERY.

Double outlet right ventricle, noncommitted ventricular septal defect


Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

DORV with subpulmonary VSD without pulmonary stenosis

A subtype with pulmonary ventricular septal defect.


An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.


Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. [PMID:16670098, PMID:25443708]


A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber. [HPO:probinson, PMID:7477198]


Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. [PMID:11784827, PMID:4031909]


An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. [ORCID:0000-0003-0986-4123]


A leukemia/lymphoma found predominately in children and young adults and characterized LYMPHADENOPATHY and THYMUS GLAND involvement. It most frequently presents as a lymphoma, but a leukemic progression in the bone marrow is common.


IgD deficiency
Decreased IgD
Decreased IgD in blood

An abnormally decreased level of immunoglobulin D (IgD) in blood. []


Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. [ICM:PCaroppo, PMID:15077237, PMID:25452726]


A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. [HPO:probinson]


Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. []


Defective DNA repair after ultraviolet radiation damage


Progressive calcification of costochondral cartilage


Abnormal calcification of the wrist bones

Abnormal calcification of the carpal bones


A limited ability of the knee joint to perform extension and flexion. [HPO:curators]


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


Anterior/lateral radial head dislocation

A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. [HPO:probinson]


An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. [HPO:probinson]


Disintegration of the tubular basement membrane

Tubular basement membrane disintegration

DIsruption and breaking up of the basement membrane of the tubules of the kidney. [HPO:probinson]


Renal corticomedullary cystic disease
Corticomedullary renal cysts

The presence of multiple cysts at the border between the renal cortex and medulla. [HPO:probinson]


Intimal thickening in the coronary arteries


Absent ossification of femoral capital epiphyses

Absent ossification of capital femoral epiphysis

Lack of ossification of the proximal epiphysis of the femur. [HPO:probinson]


Rudimentary fallopian tubes
Underdeveloped fallopian tube

Developmental hypoplasia of the fallopian tube. [HPO:probinson]


An increased amount of glycogen in muscle tissue. [HPO:probinson]


A pattern of simultaneous degeneration and regeneration of axons (see comment). [HPO:probinson]


Hyperplastic antitragus
Enlarged antitragus
Hypertrophic antitragus

Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. [HPO:curators, PMID:19152421]


Reduction in diameter of the ulna. [HPO:probinson]


Increased width of the distal segment of a finger. [PMID:19125433]


Pigmented micronodular adrenocortical disease


Paradoxical increased cortisol secretion on dexamethasone suppression test


Decreased renal tubular phosphate excretion


The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. [HPO:probinson]


Increased percent tubular reabsorption of phosphorus

Increased renal tubular phosphate reabsorption


An abnormality related to a defect of vertebral separation of sacral vertebrae during development. []


Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. [HPO:probinson, ORCID:0000-0002-1735-8178]


Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. [HPO:curators]


Small neck muscle
Underdevelopment of neck muscle
Decreased size of neck muscle

Underdevelopment of muscles of the neck. [HPO:curators]


Underdevelopment of muscles of the shoulder. [HPO:probinson]


Type III lissencephaly
Type 3 lissencephaly

An autosomal dominant sub-type of lissencephaly caused by mutation(s) in the TUBA1A gene, encoding adhesion tubulin alpha-1A chain.


A form of metabolic acidosis with increased serum chloride levels. [PMID:31418093]


Cysts of the cortex of the kidney. [Eurenomics:fschaefer]


The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. [HPO:probinson, PMID:22323592]


Mesomelia of the lower limbs
Mesomelic lower limb shortening

Shortening of the middle parts of the leg in relation to the upper and terminal segments. [HPO:sdoelken]


Absent/hypoplastic tibia
Absent/small shinbone
Aplastic/hypoplastic tibia
Absent/underdeveloped shankbone
Absent/small shankbone
Absent/underdeveloped shinbone

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


A physical quality in which the rib is undulating.


Depletion of components of the alternative complement pathway

An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. [https://en.wikipedia.org/wiki/Alternative_complement_pathway]


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


Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a mitten" hand deformity." [HPO:probinson, PMID:20301304]


Tapered outermost finger bone
Tapered distal phalanges
Tapered distal phalanges of the hand

A reduction in diameter of the distal phalanx of finger towards the distal end. [HPO:probinson]


An overall widening of the spaces between the digits. [HPO:probinson, PMID:19125433]


Underdevelopment of the distal epiphysis of the radius. [HPO:curators]


Expanded phalanges with widened medullary cavities


Expanded metacarpals with widened medullary cavities


Expanded metatarsals with widened medullary cavities


Calcification, that is, pathological deposition of calcium salts in the arch of aorta. [HPO:probinson]


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


A type of adult onset with onset of symptoms at the age of 40 to 60 years. [HPO:probinson]


A reduction in the ability of the kidneys to remove uric acid from the serum. [HPO:probinson]


A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. [HPO:probinson, PMID:19144691, PMID:22449945]


Pits in the earlobes at the location where ears are typically pierced for earrings. [PMID:6958333]


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


Shortened 2nd long bone of hand
Rudimentary 2nd metacarpal

Short second metacarpal bone because of developmental hypoplasia. [HPO:probinson]


Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper. [PMID:31466955]


Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. []


Demyelination of peripheral motor nerves. [HPO:probinson]


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


Prolonged bleeding after dental extraction

Prolonged bleeding post dental extraction sufficient to require medical intervention. [HPO:probinson, WWW:wouwehand]


An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). [HPO:probinson]


High iliac wings
Narrow, high iliac wings

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


Repetitive compulsive behavior
Repetitive compulsive behaviour


Impaired pursuit initiation and maintenance


Early loss of secondary dentition
Early loss of permanent teeth
Premature loss of adult teeth
Early loss of adult teeth
Premature loss of secondary teeth

Premature loss of the permanent teeth. [HPO:ibailleulforestier]


A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. [HPO:probinson]


Generalised hyperkeratosis
Hyperkeratosis, generalized
Hyperkeratosis, generalised


Absent cutis congenita of vertex
Aplasia cutis congenita of vertex

Aplasia cutis congenita over the scalp vertex

A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. [HPO:curators]


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


Increased susceptibility to neisseria meningitidis infections

Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. [HPO:curators]


Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another. []


Agenesis of a tooth
Selective tooth agenesis

Agenesis specifically affecting one of the classes incisor, premolar, or molar. [HPO:ibailleulforestier]


An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. [HPO:probinson]


An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. [HPO:probinson]


Underdevelopment of the spleen. [HPO:curators]


Left atrium hypoplasia
Underdeveloped left heart atrium

Underdeveloped, small left heart atrium []


A developmental defect characterized by the lack of formation of the pulmonary blood vessels. []


Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape. [PMID:19152421]


Presence of nodules in the conjunctiva of the eye. [HPO:probinson]


Inability of the heart to increase its rate commensurate with increased activity or demand. [PMID:21382903]


An electrocardiographic finding in which there are variations in the shape, amplitude, or direction of the T wave from one beat to the next.


Disease of the large or small intestine that is caused by inadequate blood supply.


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


Myalgia of pelvic floor
Pelvic floor myalgia

Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.


Aberrant right subclavian artery
Arteria lusoria

Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria. [PMID:25105156]


A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs. [PMID:30148234, UManchester:psergouniotis]


An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades. []


Reduced number or density of facial hair. [HPO:probinson]


Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. [HPO:probinson, PMID:20730609]


A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. [HPO:probinson]


A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. [HPO:probinson]


Partial displacement of the lens in the inferior direction. [HPO:probinson]


Partial dislocation of the lens in a superior direction. [HPO:probinson, PMID:5087595]


Subretinal pigment epithelium haemorrhage

Subretinal pigment epithelium hemorrhage

An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane. []


A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). [PMID:3632007]


A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. [PMID:24023426]


Increased immunoglobulin level
Raised immunoglobulin levels


A clinical finding in which there is depression of the sternum visible on examination of the chest. (ACC-AHA)


Failure of development of cupid's bow
Lack of cupid's bow
Aplasia of cupid's bow
Missing cupid's bow
Agenesis of cupid's bow
Absent cupid's bow

Lack of paramedian peaks and median notch of the upper lip vermilion. [PMID:19125428]


Decreased volume of lower lip vermilion
Thin red part of the lower lip
Decreased height of lower lip vermilion
Thin lower lip
Thin vermilion border of lower lip
Decreased volume of lower lip

Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). [PMID:19125428]


An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon. []


A type of inferior mediastinal mass that is located behind the pericardium. []


A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). []


Pleural pseudotumor
Pleuroma
Folded lung syndrome
Blesovsky syndrome
Comet tail sign
Helical atelectasis

Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung. [PMID:18195376]


Cardiomyopathy, esp. right ventricular
Cardiomyopathy, right ventricular

Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. [HPO:probinson, PMID:17916581]


An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. [DDD:dbrown, HPO:probinson, PMID:18806021]


A tumor of the anal margin. [HPO:probinson, PMID:22379406]


Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. [ORCID:0000-0002-1735-8178, PMID:11422340]


Interphalangeal extension contractures of thumbs

Contractures of the interphalangeal joint of the thumb

Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. [HPO:probinson]


Contractures of the metacarpophalangeal joint of the thumb

Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis. [HPO:probinson]


An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea. []


Extra toe attached near the little toe
Postaxial polydactyly of foot
Polydactyly affecting the 5th toe
Postaxial polydactyly of feet
Posterior polydactyly of foot

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. [HPO:curators]


Preaxial polydactyly, feet
Preaxial polydactyly of the feet
Preaxial polydactyly of feet
Preaxial polydactyly of foot

Duplication of all or part of the first ray. [HPO:probinson, PMID:19125433]


Divergence of digits along the anteroposterior axis (in the plane of the sole). [PMID:19125433]


Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). []


An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). [HPO:sdoelken]


An increase in voltage of the PR segment above baseline. []


Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. [PMID:26055647]


A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color. []


Blisters
Blistering, generalised
Abnormal blistering of the skin

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. [HPO:probinson, PMID:31596619]


Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex. [PMID:12891505]


Abnormally lax lower eyelid associated with tissue relaxation. [UManchester:psergouniotis]


Abnormally lax upper eyelid associated with tissue relaxation. [UManchester:psergouniotis]


A loss of the ability to move the vocal fold on both sides. [HPO:probinson]


A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). [PMID:22223978]


Recurrent streptococcus pneumoniae infections

Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. [HPO:probinson]


Recurrent infections in bronchi and lungs

An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. [HPO:probinson]


Involuntary sudden, rapid, recurrent, nonrhythmic, stereotyped motor movement or vocalization.


Retinal arteriolar narrowing
Constricted retinal arterioles
Narrow retinal arterioles

Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. [HPO:probinson]


Abnormality of the lip
Abnormal lip
Malformation of lip
Deformity of lip
Anomaly of lip
Lip abnormality

An abnormality of the lip. [HPO:probinson]


A history of a first-degree relative with heart disease.


Bleeding occurring within the macula lutea of the retina. []


An elevation of the eyelid above the normal level in the primary position. [PMID:7735674]


Hypospadias with location of the urethral meatus in the scrotum. [HPO:probinson]


Bleeding that is disproportionate to the offending trauma.


EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]


EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]


EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]


EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]


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


EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]


Sperm with cigar-shaped heads that gradually dimish in diameter (taper). [PMID:28692759]


Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. [HPO:probinson]


Has loud snoring
Heavy snoring
Have loud snoring
Loud snoring

Particularly loud snoring, snoring at high volume. [NCIT:C121601]


Fever that occurs at daily intervals. [PMID:28546530]


Socially inappropriate behaviour
Socially inappropriate behavior

Behavior that is not in line with social norms. [ICM:PCaroppo]


Breasts enlarged
Large breast
Breast enlargement


Maxillary hyperplasia
Big upper jaw
Large maxilla
Hyperplasia of the maxilla
Upper jaw excess
Increased size of maxilla
Maxillary prominence
Hyperplasia of upper jaw
Large upper jaw
Prominent maxilla
Increased size of upper jaw
Maxillary excess
Prominent upper jaw
Big maxilla

Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. []


Reduced strength of the muscles that lift or otherwise move the foot at the ankle. []


A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. []


A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. []


Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test. [UManchester:psergouniotis]


Psychomotor retardation, moderate
Global developmental delay, moderate

A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. [DDD:hvfirth]


An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). []


A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.


A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


An acute or chronic infectious process affecting the bones.


Detection of odors that are not present.


A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. [HPO:probinson]


Involuntary protrusions, movements, spams and contortions of the tongue. [PMID:24808861]


A form of retention cyst of the floor of the mouth, usually due to obstruction of the ducts of the submaxillary or sublingual glands, presenting a slowly enlarging painless deep burrowing mucocele of one side of the mouth. It is also called sublingual cyst and sublingual ptyalocele.


Increased size of head
Large head circumference
Big cranium
Increased size of cranium
Large head
Big head
Macrocephaly
Macrocrania

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. [PMID:19125436]


Muscle hypertrophy
Skeletal muscle hypertrophy
Hypertrophic muscles
Increased skeletal muscle cells

The enlargement or overgrowth of all or part of an organ due to an increase in size (not length) of individual muscle fibers without cell division. In the case of skeletal muscle cells this happens due to the additional synthesis of sarcomeric proteins and assembly of myofibrils. [GOC:mtg_muscle]


Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous. []


Low muscle tone, in neonatal onset
Hypotonia, neonatal
Hypotonia, in neonatal onset

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. [HPO:curators]


Less than normal weight gain in an infant or child, which may include poor linear and head growth.


Deformity of facial skeleton
Abnormal facial skeleton morphology
Malformation of facial skeleton
Abnormality of facial skeleton
Malformation of facial bones
Deformity of the facial bones
Abnormality of facial bones
Anomaly of facial bones

An abnormality of one or more of the set of bones that make up the facial skeleton. [DDD:awilkie]


Renal pelvic diverticulum
Caliceal diverticulum
Pelvic diverticulum

Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. [HPO:sdoelken]


Invagination of the superior part of the auricle under a fold of temporal skin. [PMID:19152421]


Long-standing and persistent renal disease with glomerular filtration rate (GFR) greater than 90 ml/min.


Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 60-89 ml/min.


Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 30-59 ml/min.


End stage renal failure
Stage 5 chronic kidney disease
End-stage renal disease
Renal failure, endstage
End-stage renal failure
Chronic renal failure

Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min.


Foetal renal pelvic dilatation
Mild fetal hydronephrosis
Fetal pyelectasis
Mild foetal hydronephrosis
Fetal renal pelvic dilatation

Dilation of fetal KIDNEY PELVIS. It is a common PRENATAL ULTRASONOGRAPHY finding with no significant long-term sequelae.


Long-standing and persistent renal disease with glomerular filtration rate (GFR) between 15-29 ml/min.


The presence of an infectious agent in the blood circulation. []


A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva. [PMID:29980161]


Rosette-forming glioneuronal tumour of the fourth ventricle

Rosette-forming glioneuronal tumor of the fourth ventricle

A central nervous system neoplasm arising from the fourth ventricle. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.


Low-grade adenocarcinoma of endolymphatic sac origin

A rare, low-grade malignant epithelial tumor arising from the endolymphatic sac in the temporal bone. Morphologically, it is characterized by the presence of papillary and cystic structures. As tumors grow, they may destroy petrous temporal bone and extend into the middle ear and the middle and posterior cranial fossae and into the cerebellopontine angle. (WHO 2017)


Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery. [ORCID:0000-0002-8593-2186, PMID:30718211]


An electrocardiographic finding of a QRS amplitude less than or equal to 0.5 mV in the limb leads or QRS amplitude less than or equal to 1 mV in the precordial leads. (CDISC)


A form that is characterized by partial or complete obstruction of bronchiolar lumens resulting from chronic bronchiolar inflammation, scarring, and smooth muscle hypertrophy.


A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. [https://www.aoa.org/]


Congenital absence of the fetal ductus venosus.


Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output. [PMID:27295157]


Sense of smell impaired
Decreased smell sensation


Lost taste
Absent sense of taste
Ageusia

Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS.


An abnormality of the regulation of body fluids. [HPO:probinson]


Reflex asystolic syncope
Reflex anoxic seizure

A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. [PMID:23814085]


Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. [HPO:probinson, PMID:12860883]


Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.


Unilateral deafness
Deafness, unilateral

A unilateral absence of sensory perception of sound. [HPO:probinson]


Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. [UToronto:chum]


Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions.


Hematopoiesis that occurs outside of the bone marrow. It occurs during fetal development or it may result from pathologic processes that affect the bone marrow.


Urinary excretion of sialylated oligosaccharides

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


Overgrowth of innermost part of calf bone

Overgrowth of the proximal part of the fibula. [HPO:curators]


Triangular shaped hand bones
Delta phalanx/delta-like phalanx


Abnormality of the periventricular white matter

Periventricular white matter abnormalities

Abnormal periventricular white matter morphology

A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. []


Renal Ca2+ wasting
Kidney Ca2+ wasting
Kidney calcium wasting
Kidney Ca wasting
Renal Ca wasting

High urine calcium in the presence of hypocalcemia. [HPO:probinson]


An increased concentration of magnesium the urine. [Eurenomics:fschaefer]


Abnormally low level of citrate in the urine.


Staphylococcus aureus infections, recurrent

Recurrent Staphylococcus aureus infections

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


An increased concentration of glycerol in the urine. []


Congenital localized skin absence
Congenital localised absence of skin
Congenital localised skin absence


Prenatal onset
Intrauterine onset
Onset in utero


An excessive concavity of the anterior surface of one or more vertebral bodies. [HPO:curators]


Abnormally curly or curved eyelashes. [HPO:curators]


Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. []


Abnormal twisting of arteries or veins. [PMID:22433458]


A reduction in the count of nephrons per kidney. [Eurenomics:ewuehl]


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


Underdevelopment of the fovea centralis. [HPO:probinson]


Absent skin pigmentation
Lack of skin coloration

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


Lethal short-limbed dwarfism
Lethal micromelic dwarfism


Inability to elicit tendon reflexes in the upper limbs. [HPO:probinson]


Increased dimension of the sclera in the anterior-posterior axis. [HPO:probinson]


Splitting of the retinal layers in the macula. [HPO:probinson]


Decreased bone mineral density Z score
Decreased bone mineral density
Low solidness and mass of the bones

A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. [HPO:sdoelken]


A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. [HPO:probinson]


Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. [HPO:probinson]


Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. [HPO:probinson]


Spontaneous tooth fracture
Enamel with tendency to chip

A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. []


Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins. [ORCID:0000-0003-2307-1226, PMID:30899091]


Abnormalities of the fingers
Abnormality of finger


Abnormality of toe
Abnormalities of the toes


The formation of new bone along the cortex and underneath the periosteum of a bone. []


Small palpebral fissures
Narrow palpebral fissures
Narrow palpebral fissure
Decreased size of palpebral fissure

Reduction in the vertical distance between the upper and lower eyelids. [HPO:probinson]


Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. [HPO:probinson]


Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality

An abnormality of the eyelashes. [HPO:probinson]


Restrictive behavior, interests, and activities


Restrictive external ophthalmoplegia, bilateral


Slender long bones with narrow diaphyses

Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. [HPO:probinson]


Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. [HPO:probinson, PMID:10707720]


Lack of ossification of the sacrum. [HPO:probinson]


Completely missing eyeball
Total anophthalmia
Complete anophthalmia

Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. [DDD:ncarter]


Acholia
Discolored, acholic stools
Acholic stools
Clay colored stools

Clay colored stools lacking bile pigment. [HPO:probinson]


A test result indicating the presence of red cells of various sizes and shapes in the peripheral blood.


Underdevelopment of the operculum. [HPO:sdoelken]


An exceedingly rare squamous cell carcinoma arising from the pancreas.


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


Increased serum insulin-like growth factor 1

An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. [HPO:probinson, PMID:18436706]


An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. [HPO:curators]


Post-angioplasty coronary artery restenosis


Enlarged internal auditory canal
Bulbous internal auditory canal

The presence of a dilated inner part of external acoustic meatus. [HPO:probinson]


Underdeveloped cochlea
Hypoplastic cochlea

Developmental hypoplasia of the cochlea. [HPO:probinson]


Small head circumference present at birth

Decreased head circumference present at birth

A congenital developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.


A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [HPO:probinson]


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


A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy.


Absent sweat glands
Lack of sweat glands

Absence of the sweat glands. [HPO:probinson]


A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. [HPO:probinson]


Decreased activity of mitochondrial complex I

A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. [HPO:probinson]


Left superior vena cava draining to coronary sinus

A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. [PMID:18847480]


An inherited or sporadic disorder affecting the skeletal muscles.


A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. [COST:neuromig, PMID:22427329, PMID:22473091]


A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. [HPO:probinson]


Broad wide portion of shankbone
Broad wide portion of shinbone


Underdeveloped tooth roots
Dental root hypoplasia
Root dwarfism
Short dental roots
Rhizomicry
Decreased length of tooth roots
Short tooth roots
Underdeveloped dental roots
Dental root hypotrophy
Decreased length of dental roots

Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. [HPO:probinson, PMID:31468724]


Absent ossification/absent ulna
Absent ulnae
Absent ulna

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


Aplasia of the humerus
Absent long bone in upper arm
Aplastic humerus

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


Hand ectrodactyly
Lobster claw hand
Ectrodactyly of the hand
Claw hand
Claw hands
Split-hand
Claw hand deformities
Split hand
Cleft hand

A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. [HPO:sdoelken]


Feelings of annoyance, impatience, and anger.


An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum. []


Liver steatosis
Steatosis
Fatty liver
Fatty infiltration of liver

Inflammation of the liver related to lipid accumulation in fatty liver.


An anomaly of metabolism or structure of the brain identified by imaging. []


Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing. [ORCID:0000-0002-4095-8489, PMID:28790493]


A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


Inspiration of a foreign object into the airway. [HPO:probinson]


Localized distended sac affecting only part of the wall of blood vessels.


A benign adnexal neoplasm derived from cells of the terminal duct of eccrine or apocrine SWEAT GLAND lineage. They typically manifest as solitary papules and occur only in the skin but unlike in ACROSPIROMA involves the epidermis.


A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.


Elbow dislocations
Dislocations of the elbows

Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. [HPO:probinson]


The presence of hemosiderin in the urine. [HPO:probinson]


Edema of the dorsum of hands
Oedema of dorsum of hands
Oedema of the dorsum of hands

An abnormal accumulation of fluid beneath the skin on the back of the hands. [HPO:probinson]


Postexertional fatigue
Exercise-induced fatigue
Postexertional malaise

A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise. []


Neoplasm of the skeletal system
Skeletal tumor

A tumor (abnormal growth of tissue) of the skeleton. [HPO:probinson]


Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. [PMID:24053995]


A melanoma of the skin characterized by single cell infiltration of the papillary dermis by atypical melanocytes, in a background of lentigo maligna changes.


A decreased concentration of insulin in the blood. []


Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. [PMID:24053995]


Increased susceptibility to infection by the protozan parasite of the genus Leishmania. [HPO:probinson]


Presence of excess fibrous connective tissue surrounding hair follicules. []


Renal Na wasting
Kidney sodium wasting
Renal Na+ wasting

An abnormally increased sodium concentration in the urine in the presence of hyponatremia. [Eurenomics:ewuehl]


Progressive extrapyramidal movement disorder


Short eyelashes
Decreased length of eyelashes

Decreased length of the eyelashes (subjective). [HPO:probinson]


Infiltration of portal fields by inflammatory cells. [PMID:16939061, PMID:19142989]


Blistering with cleavage within basal keratinocytes

Cleavage within the basal keratinocyte layer

Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis. []


Slanting of the opening between the eyelids


Increased susceptibility to bacterial infections


Decreased growth of paranasal sinus
Small paranasal sinus
Underdevelopment of paranasal sinus
Decreased size of paranasal sinus
Decreased volume of paranasal sinus

Underdevelopment of the paranasal sinuses. [HPO:probinson]


An anomaly of the muscular contractions that propel food though the gastrointestinal tract. [HPO:probinson]


Anterior position of the primary palate bone

Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. [HPO:sdoelken, ORCID:0000-0001-5889-4463, PMID:19125436]


An increased amount of prostaglandin E2 in the urine. [PMID:24838973]


Absence or underdevelopment of the radius bone of the arm

A small/hypoplastic or absent/aplastic radius. [HPO:probinson]


Dumbbell widening of long bone metaphyses

An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. [HPO:probinson]


Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. [HPO:probinson]


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


Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis. [PMID:11994986, PMID:23744492]


An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. [COST:neuromig, HPO:probinson, PMID:22427329]


Abnormal isoelectric focusing of serum transferrin

Abnormal transferrin isoelectric focusing

Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. [HPO:probinson, PMID:22516080]


Intermittent generalised erythematous papular rash

Intermittent generalized erythematous papular rash


Increase in the number of type II pneumocytes. [LMU:crapp, PMID:11079017]


Respiratory cilia have shortened or absent outer dynein arms


Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. []


Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. []


Wide midline cleft lip/palate
Central cleft lip and palate
Medial cleft lip and palate
Midline cleft lip/palate

Cleft lip or palate affecting the midline region of the palate. [HPO:sdoelken]


Contractures of the joints of the upper limbs


Abnormal liver function tests during pregnancy, resolves postpartum


A reduction in the number of nerve cells in the basal ganglia. [HPO:probinson, PMID:13729575]


Focal proliferation of glial cells in the basal ganglia. [HPO:probinson]


A morphologic finding indicating the presence of wrinkles in the basement membrane of the glomeruli.


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


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


Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. [PMID:28613773]


Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)


Oedema of the dorsum of feet
Edema of the dorsum of feet
Edema of dorsum of feet

An abnormal accumulation of fluid beneath the skin on the back of the feet. [HPO:probinson]


The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. [MP:0011745]


An anatomical variant of the cervical vertebra axis in which the ODONTOID PROCESS is unfused from the body of the axis.


Cleft of gum ridge
Notch of alveolar ridge
Alveolar ridge cleft
Cleft of alveolar ridge of maxilla

A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. [HPO:mengelstad, HPO:probinson]


A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.


Humeral-radial synostosis
Fusion of upper and lower arm bones
Humeral radial synostosis
Synostosis of radius and humerus

Osteoarticular abnormalities, highly arched palate, anorchia, and subnormal motor and mental development.


Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm. [PMID:25173208, PMID:30567276]


Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. [HPO:probinson, PMID:20837325]


A genetic syndrome characterized by the absence of all four limbs.


A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. [HPO:probinson]


Decreased numbers of circulating T cells

An abnormally low count of T cells. [HPO:probinson]


Temporomandibular joint fusion
Freezing of jaw joint
Ankylosis of temporomandibular joint

Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. [ORCID:0000-0001-5208-3432]


The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. [HPO:probinson]


A increased concentration of sulfocysteine in the urine. [PMID:28980090, UCDenver:tjcallahan]


A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures.


A PRENATAL ULTRASONOGRAPHY finding of excessively dense fetal bowel due to MECONIUM buildup.


Aqueduct of Sylvius stenosis
Narrowing of aqueduct of Sylvius
Aqueductal stenosis

Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. [HPO:curators]


A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4.


A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. [HPO:probinson]


Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. [HPO:probinson]


Intracerebral hemorrhage
Bleeding in brain
Cerebral hemorrhage
Intracerebral haemorrhage

Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.


Recurrent aphthous ulcers
Recurrent aphthous stomatitis
Buccal aphthous ulcers
Recurrent canker sores

Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. [HPO:probinson]


An elevated concentration of urobilinogen in the urine. []


An abnormally reduced concentration of urobilinogen in the urine. []


Hyperintensity of cerebral white matter on MRI

A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. [PMID:15576652]


A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage [PMID:28238385]


Abnormal, non-neoplastic cell proliferation of the CEREBRAL CORTEX confined to an area in any lobe. Focal cortical dysplasia in the temporal lobe is associated with TEMPORAL LOBE EPILEPSY.


Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine.


Tremulousness (trembling) of the lens of the eye. [HPO:probinson, PMID:5472193]


Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze. [PMID:27169871]


Impaired right ventricular function
Right ventricular impairment

Failure of proper functioning of the right ventricle, with venous engorgement, hepatic enlargement, and subcutaneous edema.


Dacryocytosis
Tear-drop shaped erythrocytes

Presence of teardrop-shaped red blood cells. [ORCID:0000-0001-9969-8610, PMID:21250106]


Gentle or temperate in nature or degree.


A feeling that something life-threatening or tragic is about to occur. [PMID:18577027]


Abnormal ventriculoarterial connection
Abnormal ventriculo-arterial connection

An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. [PMID:15227248, PMID:18805185, PMID:24750982]


Abnormality of the spatial relationship of the atria to other components of the heart. [DDD:dbrown]


Deposition of calcium salts in muscle tissue. [HPO:probinson]


Pulmonary arterial hypertension
Pulmonary artery hypertension

Increased pressure within the pulmonary arterial circulation.

Increased blood pressure in blood vessels of lungs


Pediatric glaucoma
Infantile glaucoma
Childhood glaucoma
Developmental glaucoma

Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. []


Cleft of hard and soft palate
Cleft of palate
Cleft hard and soft palate
Cleft palate
Cleft secondary palate
Palatoschisis
Cleft roof of mouth

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). [HPO:probinson]


An electrocardiographic finding of P waves with two peaks longer in duration than normal and amplitude greater than normal. (CDISC)


This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. []


An extremely rare, WHO grade 1, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.


A breast carcinoma characterized by the presence of multiple cancerous tumors that originate from the same clone and are usually located in the same quadrant of the breast.


A capillary or cavernous hemangioma that arises from the esophagus. The majority of cases are polypoid intraluminal lesions.


A morphologic finding indicating the presence of dysplastic erythroid precursors in the bone marrow.


Increased concentration of thiosulfate(2-) in the urine. [HPO:probinson]


Disproportionate short-trunk short stature, identifiable in childhood

Short-trunk dwarfism identifiable during childhood

Childhood-onset short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. [HPO:probinson]


Decreased activity of mitochondrial complex III

A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. [HPO:probinson]


Aplasia of the abdominal wall musculature

Absence of the abdominal musculature. [HPO:probinson]


Partial dislocation of the head of the radius in the posterior direction. [HPO:curators]


Short-trunk dwarfism identifiable at birth

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. [HPO:probinson]


Absence of mandibular incisor
Missing lower incisor


A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. [DDD:hfirth]


Absent/underdeveloped nipples
Absent/rudimentary nipples
Absent/small nipples
Nipples absent or rudimentary


Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby. [PMID:26119818, PMID:30252348]


An increased concentration of prostaglandin E2 in the blood. [HPO:probinson]


An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. [HPO:probinson]


Increased length of toes
Long toes
Long toe

Toes that appear disproportionately long compared to the foot. [HPO:probinson, PMID:19125433]


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


Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. [ORCID:0000-0003-0986-4123]


An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. [HPO:probinson]


A reduced level of the complement component C8 in circulation. [PMID:8098723]


Episodes of neisserial infection
Recurrent neisseria infections

Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). [HPO:curators]


Abnormal light- and dark-adapted electroretinogram

An abnormality of the combined rod-and-cone response on electroretinogram. [HPO:probinson]


Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib. [PMID:21932319]


Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible. [PMID:21932319]


Increased vertical length of upper lip
Long upper lip
Elongation of upper lip
Increased height of upper lip

Increased width of the upper lip. [DDD:jhurst]


The presence of an abnormal curvature of the cervical vertebral column. [HPO:probinson]


Abnormal iron deposition in mitochondria


An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine. [PMID:19177531]


Mottled pigmentation of photoexposed areas


Progressive bending or abnormal curvature of the forearm skeleton. [HPO:probinson]


Partial fusion of innermost row of wrist bones

Partial fusion of proximal row of carpal bones


Abnormality of the anterior chamber
Anterior chamber anomalies
Abnormal anterior chamber morphology

Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. [HPO:probinson]


Death of digestive organ tissue due to poor blood supply


An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml. [PMID:20572300]


Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. [PMID:24053995]


Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [HPO:probinson]


Recurrent lower respiratory tract infections

An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. [HPO:probinson]


An anomaly of the arch of aorta. [HPO:probinson]


A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus. [DDD:dbrown, PMID:3138904]


A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. [Fyler:1484, PMID:2274446]


Abnormality of the pulmonary valve
Anomaly of the pulmonary valve

Any structural abnormality of the pulmonary valve. [HPO:probinson]


Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. [HPO:probinson]


Atrial heterotaxy
Atrial situs ambiguous

Common atrium without defining morphologic features. [DDD:dbrown]


Any abnormality of the aortic valve. [HPO:curators]


A rare, non-syndromic, posterior fossa malformation characterized by a cisterna magna that measures above 15 mm in length, 5 mm in height and 20 mm in width (or greater than 10 mm in fetuses) associated with a normal cerebellar vermis and absence of hydrocephalus. The majority of patients are asymptomatic; however, variable neurodevelopmental outcomes, including delayed speech and language development, motor development delay, visiospatial perception difficulties, and attention problems, has been observed in some patients.


Displaced lobar tracheal bronchus
Bronchus suis

Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. [ORCID:0000-0002-4095-8489, PMID:11158647, PMID:19332762]


Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis

A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]

DORV with doubly committed VSD and pulmonary stenosis


Doubly committed ventricular septal defect

A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. [DDD:dbrown, PMID:10798413]


The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension. [PMID:28540066]


Stroke caused by lacunar infarction or other small vessel diseases of the brain. It features hemiparesis (see PARESIS), hemisensory, or hemisensory motor loss.


Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. [DDD:dbrown, PMID:3408620]


In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. [DDD:dbrown, PMID:3408620]


Absent/hypoplastic thumbs
Thumb aplasia/hypoplasia
Hypoplastic to aplastic thumbs
Absent or hypoplastic thumbs
Absent/hypoplastic thumb
Aplasia/hypoplasia of thumbs
Hypoplastic/absent thumb
Aplastic/hypoplastic thumbs
Absent/underdeveloped thumb
Absent/small thumb

Hypoplastic/small or absent thumb. [HPO:probinson]


Under breathing
Slow breathing
Hypoventilation

A reduction in the amount of air entering the pulmonary alveoli.


A benign neoplasm composed of hyaline cartilage arising from the lung. It is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification.


Serial seizures
Acute repetitive seizures
Cyclical seizures
Seizure flurries
Crescendo seizures
Seizure cluster

A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. [PMID:29871784, PMID:32305858]


Low urine magnesium levels
Decreased urine magnesium

An decreased concentration of magnesium the urine. [Eurenomics:fschaefer]


The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. [PMID:20420178, PMID:27773907, PMID:31624089, PMID:32087460, PMID:33173498]


Typical atrial flutter is an organised atrial tachycardia. It originates in a circuit around the tricuspid annulus limited by anatomical barriers such as the superior and inferior cava veins, the coronary sinus and crista terminalis. The wave front may rotate around this circuit counterclockwise or clockwise.


A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). [ORCID:0000-0003-0986-4123]


Astigmatism in which the refractive power of the vertical meridian is the greatest. [ORCID:0000-0003-0986-4123]


Compression fractured thoracic vertebra
Wedge fractured thoracic vertebra

A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. []


An open sore on the surface of the skin of a finger or toe. []


Hamartomatous polyps
Gastrointestinal hamartoma

A non-neoplastic, hamartomatous polyp that arises from the stomach, small intestine, and large intestine. This group includes the juvenile polyps and Peutz-Jeghers polyps.


Vesicoureteral reflux in which there is urine reflux into the ureter only.


Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces.


Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present.


Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present.


Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present.


Reduced ability to walk in a straight line while placing the feet heel to toe. []


Mitochondrial proliferation in muscle tissue

An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. [HPO:probinson, PMID:12075011, PMID:16537564]


Atrophy of the capillary lamina of choroid. [HPO:probinson]


Spondylolysis and spondylolisthesis of l5

Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1). [HPO:probinson]


Increased echogenicity of the renal parenchyma

An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. [HPO:probinson, PMID:2259758, PMID:24235286]


Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. [HPO:probinson]


Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. [PMID:19125436]


A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. [PMID:11694546, PMID:24339047]


Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). [HPO:probinson]


Decreased activity of mitochondrial respiratory complexes


Abnormal toenail development
Dysplastic toenails

An abnormality of the development of the toenails. [HPO:probinson]


Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. [HPO:probinson]


Absent shankbone
Aplasia of the tibia
Absent shinbone


An induration (hardening) of the skin []


Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. [HPO:probinson, KPMP:arosenberg, PMID:32866505]


Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. [PMID:27354457, PMID:31737722]


Straight eyebrows
Flat eyebrow
Lack of eyebrow arch
Horizontal eyebrow
Straight eyebrow
Lack of eyebrow curvature

An eyebrow that extends straight across the brow, without curve. [PMID:19125427]


Cataract in both eyes that are present at birth.


The presence of a tail-like skin appendage located adjacent to the sacrum. [HPO:probinson]


An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). [HPO:probinson, PMID:19232556]


Dumbbell shaped wide portion of long bone


Decreased knee jerk reflex
Decreased patellar reflexes

Decreased intensity of the patellar reflex (also known as the knee jerk reflex). [HPO:probinson]


Type II muscle fibre predominance
Type II muscle fiber predominance
Type 2 muscle fibre predominance

An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). [HPO:probinson]


An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. [PMID:32715519]


Restrictive deficit on pulmonary function testing

Restrictive deficit on pulmonary function tests

Stiff lung or chest wall causing decreased lung volume

A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. [NIHR:ldaugherty, PMID:28194273]


Eyelid partly covered by skin when eyes are open. [HPO:probinson]


The presence of multiple deletions of mitochondrial DNA (mtDNA). [HPO:probinson]


An unusually severe viral infection. [PMID:21960712]


Abnormal distribution of retinal arterioles and venules


Aplasia of the middle phalanx of the 5th finger

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


Generalized excessive, abnormal hairiness. [HPO:probinson]


Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. [HPO:probinson]


An abnormally increased size of the cerebellum compared to other brain structures. [HPO:probinson]


Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. [HPO:probinson, PMID:25105227, PMID:27160001]


Hair hypopigmentation
Loss of hair colour
Loss of hair color


An injury of the wrist with displacement of any of the eight carpal bones. [HPO:probinson]


A developmental defect leading to the union of two adjacent vertebrae. [HPO:probinson]


Formation of crystals owing to an increased concentration of orotic acid in the urine. [HPO:probinson]


Neonatal insulin-dependent diabetes mellitus


Absent thumbs
Thumb aplasia
Absent thumb

Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. [HPO:probinson, PMID:19125433]


Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. [HPO:probinson, PMID:12950109]


Ventricular dilatation
Enlarged cerebral ventricles
Enlarged ventricles
Enlarged ventricular system
Dilated cerebral ventricles
Ventriculomegaly
Dilated ventricles
Dilated cerebral ventricle
Large cerebral ventricles and cisternae

An increase in size of the ventricular system of the brain. [HPO:probinson]


Narrowing of blood vessels in back of eye


Decreased visual acuity, slowly progressive


Underdevelopment of the vertebral artery on one side. [HPO:probinson]


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


Atrophy/Degeneration affecting the cerebellum


Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. [PMID:1180479, PMID:22028589]


Progressively worsening joint contractures. [HPO:probinson]


An impairment of gluconeogenesis. [HPO:gcarletti]


Hypoplasia of the abdominal wall musculature

Underdevelopment of the abdominal musculature. [HPO:probinson]


Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. [HPO:probinson]


Hypergranulosis is an increased thickness of the stratum granulosum. []


A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). [PMID:25780588]


Atypically located posterior pituitary gland that may be associated with anterior or posterior pituitary hormone deficiencies.


Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. [COST:neuromig, HPO:probinson, PMID:15159468, PMID:20301504]


Reduced ability to flex the femur, that is, to pull the knee upward. [ORCID:0000-0001-5208-3432]


A reduction in the concentration of thromboxane B2 in the blood circulation. [PMID:6101498]


An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. [PMID:23235479]


Long eyebrows
Increased horizontal length of eyebrow
Elongated eyebrow
Increased transverse length of eyebrow

Increased length of the hairs of the eyebrows. [HPO:probinson]


Abnormal hair whorl
Abnormal whorl of hair
Abnormal hair whorls

An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). [HPO:probinson]


Reduced level of platelet-activating factor acetylhydrolase. []

Platelet-activating factor acetylhydrolase deficiency