A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. []


C4b deficiency
Complement component 4B deficiency

A reduced level of the complement component C4b in circulation. [https://emedicine.medscape.com/article/135478-overview]


Complement component 4A deficiency
Decreased serum complement C4a

A reduced level of the complement component C4a in circulation. [https://emedicine.medscape.com/article/135478-overview]


A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. [HPO:mtaboada, PMID:20301629]


Abnormality of the posterior cranial fossa

Abnormal posterior cranial fossa morphology

An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. [HPO:probinson, PMID:25970099, PMID:28295149]


Unbalanced atrioventricular septal defect

Unbalanced atrioventricular canal defect

Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). [DDD:dbrown, PMID:20837915]


Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). [PMID:27091239]


Broad mandible
Broad jaw
Wide jaw
Broad lower face
Wide mandible

Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). [HPO:probinson, PMID:19125436]


Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.


Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve. [DDD:dbrown, HPO:probinson]

Anomalous origin of right coronary artery from the pulmonary artery


STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus.


Hypogonadotropic hypogonadism not associated with a deficiency of other pituitary hormones.


Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. [HPO:probinson, PMID:20615230]


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


Arthritis in children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent.


Congenital defects in the anus and the rectum often involving the urinary and genital tracts.


The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides. [OHSU:jpgourdine, PMID:8027366]


Non-medullary thyroid carcinoma
Thyroid cancer, nonmedullary


A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis.


Dextrotransposition of the great arteries

D-loop transposition of the great arteries

A cyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery.


Anomalous origin of the left common carotid artery from the brachiocephalic artery

The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. [PMID:18694519]

Anomalous origin of the left common carotid artery from the brachiocephalic trunk


Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. [PMID:18280793]


An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. [PMID:16098320, PMID:33781717]


Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637). [DDD:hfirth, PMID:16100637, PMID:16809660]


A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [DDD:hvfirth]


A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. [DDD:hvfirth]


A moderate delay in the acquisition of the ability to understand the speech of others. [DDD:hvfirth]


A severe delay in the acquisition of the ability to understand the speech of others. [DDD:hvfirth]


A mild delay in the acquisition of the ability to understand the speech of others. [DDD:hvfirth]


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


Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. [ORCID:0000-0003-3411-9598, PMID:29261990]


Hypoplastic pelvis
Hypoplastic pelvic bones

Underdevelopment of the bony pelvis. [HPO:probinson]


A hair-containing cyst or sinus usually in the coccygeal region. [HPO:probinson]


A congenital or acquired defect characterized by the presence of a hole in the retina.


Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. [ORCID:0000-0002-6387-4317]


Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). [HPO:probinson]


Recurrent thrombosis
Recurrent phlebitis

Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). [HPO:probinson]


Multiple rows of eyelashes
Extra rows of eyelashes


A turning outward of the lip or lips, that is, eversion of the lips. [HPO:probinson]


Abnormality of fingers or toes
Digital anomalies
Abnormality of digit

A morphological abnormality of a digit, i.e., of a finger or toe. [HPO:probinson]


Hypoplastic calcaneus
Small heel bone
Underdeveloped heel bone

Underdevelopment of the heel bone. [HPO:probinson]


Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. [eom:2cff5ac9b681fc73, PMID:19152421]


Absent/hypoplastic toes
Absent/small toe
Aplastic/hypoplastic toe phalanges
Absent/underdeveloped toe

Absence or hypoplasia of toes. [HPO:probinson]


The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. [HPO:probinson]


Respiratory insufficiency due to defective ciliary clearance


Hypoplasia of the semicircular canals
Small semicircular canal

Underdevelopment of the semicircular canal. [DDD:dfitzpatrick]


Deviated thumb
Displacement of the thumb
Abnormal thumb placement

Displacement of the thumb from its normal position. [HPO:curators]


A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. [HPO:probinson]


Increased bone density in wide portion of long bone

Abnormally increased density of metaphyseal bone. [HPO:probinson]


EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. [HPO:probinson]


Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. [HPO:probinson, PMID:4819909]


Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. [HPO:probinson, PMID:1464676]


Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus []


Increased intensity of muscle tendon reflexes in jaw. []


Bone marrow smear shows erythroid hyperplasia


Onycholysis of fingernail
Detachment of fingernails


Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. [UToronto:htrang]


Right and left cleft palate
Bilateral palatoschisis

Nonmidline cleft palate on the left and right sides. [HPO:probinson]


A form of heterotopia were the mislocalized gray matter is located deep within the white matter. [COST:neuromig]


Restricted hip extension
Limited hip extension

Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. [HPO:probinson]


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


Upturned mouth
Upturned corners of mouth
Upturned oral commisures

Oral commissures positioned superior to the midline labial fissure. [PMID:19125428]


Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach. [PMID:12432114]


Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. [PMID:32866505]


Absent toes
Aplasia of the toes
Aplasia of toe
Absent toe

Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. [HPO:probinson]


Joints move beyond expected range of motion

Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles. [https://orcid.org/0000-0002-6548-5200]


Wormian bones
Intra sutural bones
Extra bones within cranial sutures
Intrasutural bones

The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. [HPO:probinson]


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


An elevated concentration of phosphohydroxylysine in the urine. [HPO:probinson, PMID:23242558]


Reduced O-mannosyl glycans on alpha-dystroglycan

Decreased O-mannosyl glycans on alpha-dystroglycan

Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. [PMID:21930648]


Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. [PMID:28481653]


A continuous form of lactic acidemia. [HPO:probinson]


Persistent presence of Epstein-Barr virus in the blood. []


Onset of disease at the age of between 16 and 40 years. [DDD:hfirth]


Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. [HPO:curators]


Contracture of the proximal interphalangeal joint of the 5th finger

Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [HPO:probinson]


Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). [HPO:sdoelken]


Osteosclerosis of the clavicle
Osteosclerosis of the clavicles
Increased bone density in collarbone

An increase in bone density within the clavicle. [HPO:probinson]


Morning glory disc anomaly
Morning glory optic disc

An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. []


Complete duplication of the phalanges of the thumb

A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [HPO:probinson]


The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular.


A congenital abnormality characterized by the presence of one abnormally small eye globe and one normally sized eye globe.


A papule (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 exhibits increased pigmentation (is darker) compared to the surrounding skin. []


A nodule of the skin that exhibits an increased amount of pigmentation. []


The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. [PMID:25970099]


Cone dystrophy
Progressive cone dystrophy

Inherited progressive cone degeneration. []


Low thyroid gland function due to abnormal pituitary gland

Hypothyroidism due to dysfunction of the pituitary gland, which results in inadequate secretion of thyroid-stimulating hormone (thyrotropin).


Benign epidermal proliferations or tumors; some are viral in origin.


Mottled tooth enamel
Decreased enamel mineralisation
Poorly mineralized tooth enamel
Hypomineralization of enamel

A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. [HPO:probinson, PMID:31468724]


A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism). [PMID:28785436]


An increase in the length of time required for food to pass through the intestines. [PMID:22206545]


Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). [ORCID:0000-0001-5208-3432]


An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). [PMID:18195376]


A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. []


Excessive formation of fibrous bands of scar tissue in between muscle fibers. [PMID:21798099]


Atrophy of masseter muscle
Atrophied masseter muscle


Myocardial fibre disarray
Myocardial fiber disarray

A nonparallel arrangement of cardiac myocytes. [PMID:7890275]


Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. [PMID:31869107]


Ca phosphate urolithiasis
Ca phosphate nephrolithiasis
Calcium phosphate urolithiasis
Ca2+ phosphate nephrolitiasis
Ca2+ phosphate urolithiasis

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


An increased concentration of sodium(1+) in the urine. [Eurenomics:ewuehl]


An anomalous build up of copper (Cu) in the liver. []


Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. [HPO:probinson]


An abnormal amount of urine production. [Eurenomics:ewuehl]


Increased width of the uvula (subjective finding). [PMID:19125428]


A partial or complete breakage of the epiphysis of femur. []


A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.


Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). [ORCID:0000-0002-4095-8489, PMID:30545968]


Vertical deficiency of chin
Decreased height of chin
Vertical hypoplasia of chin
Short chin

Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. [HPO:probinson, PMID:19125436]


Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. [HPO:curators]


A common taste disorder where there is a lingering, often unpleasant taste despite the absence of any stimulus to initiate the distorted taste.


Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). [PMID:21339907]


An inherited condition caused by mutation(s) in the HADHA gene, encoding trifunctional enzyme subunit alpha, mitochondrial. It is characterized by hypoglycemia, hypotonia, neuropathy, cardiomyopathy, pigmentary retinopathy and may be associated with sudden death.

Long chain 3 hydroxyacyl coA dehydrogenase deficiency


Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants.


A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. [PMID:26079824]


Multicystic kidney dysplasia
Multicystic dysplastic kidney
Multicystic kidneys

A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY.


Inadequate absorption of nutrients in the small intestine.


Mental retardation, nonspecific
Intellectual disability
Nonprogressive intellectual disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)


Juvenile RA
Juvenile rheumatoid arthritis

An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system.


Hyperthermia, episodic
Episodic fever
Increased body temperature, episodic
Recurrent fever

Periodic (episodic or recurrent) bouts of fever. [HPO:probinson]


Benign GU tract neoplasm
Benign genitourinary tract tumour
Benign genitourinary tract tumor

A non-malignant neoplasm of the genitourinary system. [HPO:probinson]


Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages. []


A reduction in the length of time required for food to pass through the intestines. [PMID:22206545]


Fibroblast proliferation and fiber expansion from the portal areas to the lobule. [HPO:probinson]


Increased degradation of fibrin, associated with clot instability and bleeding []


Elongated curved (S-shaped) fibulae. [PMID:21712856, PMID:3409932]


Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation. [PMID:29059381]


A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). [HPO:probinson]


Underdeveloped calf muscles
Hypoplastic calf muscles

Underdevelopment of the muscuklature of the calf. [HPO:probinson]


Generalized increase in muscle cell size

Generalised increase in muscle cell size

Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution. [HPO:curators]


Absence of the biceps muscle. [HPO:curators]


Absence of the quadriceps muscle. [HPO:curators]


Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. [PMID:28342017, PMID:29630157]


Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula. [HPO:curators]


Increased pigmentation in sun-exposed areas


Generalised osteoporosis with pathologic fractures

Generalized osteoporosis with pathologic fractures


Pigment deposition in the trabecular meshwork

Accumulation of abnormal amounts of pigment within the trabecular meshwork. [HPO:probinson]


A difference in the amount of intraocular pressure in the right and left eye. [HPO:probinson]


Increased cup disc ratio
Elevated cup to disc ratio

An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. [HPO:probinson, PMID:23557744]


Elevated lung artery pressure
increased pulmonary artery pressure

An abnormally elevated blood pressure in the circulation of the pulmonary artery. [HPO:probinson]


Recurrent bleeding into lungs
Recurrent pulmonary hemorrhage
Recurrent intrapulmonary haemorrhage
Recurrent pulmonary haemorrhage

A recurrent hemorrhage occurring within the lung. [HPO:gcarletti]


Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. [HPO:curators]


Abnormal shortening of the larynx in the anteroposterior (front to back) axis. [HPO:probinson]


Increased red cell hemolysis by shear stress


Spotty decreased pigmentation
Patchy depigmentation
Patchy hypopigmentation


Spotty increased pigmentation
Patchy hyperpigmentation


Episodes of very rapid breathing. [HPO:probinson]


The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. [HPO:probinson]


Deposition of calcium salts in a tissue or location in which calcification does not normally occur. [HPO:probinson]


Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. []


Decreased sensitivity to hypoxaemia
Decreased sensitivity to hypoxemia

Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. [HPO:probinson]


Hair loss on scalp from scarring condition


Subcutaneous nodules that are located in the vicinity of joints. [HPO:probinson]


Elevated blood homocystine
Homocystinemia

An increased concentration of homocystine in the blood. [HPO:gcarletti]


Electrical status epilepticus during slow-wave sleep

Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. [PMID:1918335, PMID:28654799]

Continuous spike and waves during slow sleep


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


Episodic apnea induced by febrile illness or stress

Apneic episodes precipitated by illness, fatigue, stress

Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. [HPO:curators]


Respiratory failure due to muscle weakness

Respiratory insufficiency due to muscle weakness

Decreased lung function due to weak breathing muscles

Decreased respiratory function due to muscle weakness

Respiratory distress due to muscle weakness


Susceptibility to respiratory infections

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


A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. [HPO:probinson]


Squaring of the inferior scapulae
Squaring of the scapula

A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). [PMID:24706940]


Disproportionate shortening of the shinbone

Disproportionate shortening of the shankbone

Disproportionate shortening of the tibia


Dysfunction of the urinary bladder. [HPO:probinson]


Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. [HPO:curators]


Macular hypopigmented whorls, streaks, and patches


An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. [HPO:curators]


Intermittent episodes of respiratory insufficiency due to muscle weakness


Loss of definition of corticomedullary differentiation

Reduced renal corticomedullary differentiation

Reduced differentiation between renal cortex and medulla on diagnostic imaging. [HPO:probinson]


An acute form of rhabdomyolysis. [HPO:probinson]


Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing. []


Recurrent episodes of apnea occurring during infancy. [HPO:curators]


An intermittent form of abdominal pain. [HPO:probinson]


Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. [HPO:curators, PMID:11333380]


A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. [HPO:probinson]


The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. [HPO:probinson]


Elevated amount of bile acids in the feces. [PMID:9109432]


Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. []


Hepatitis, chronic, due to cryptosporidium infection

Chronic hepatitis due to cryptosporidium infection

Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. [PMID:23440042]


Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. []


Flattended head of long bone in upper arm


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


Spontaneous, recurrent nosebleed
Spontaneous, recurrent epistaxis
Recurrent epistaxis
Recurrent epistaxes


Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. [PMID:24113666]


An abnormality in which the eyes are held permanently wide open. [PMID:22675666]


The presence of bilateral coxa valga. [HPO:probinson]


Increased length of the superior cerebellar peduncle. [HPO:probinson]


Visual impairment due to central nervous system dysfunction.


Low-frequency sensorineural hearing loss

Low-frequency sensorineural hearing impairment

A form of sensorineural hearing impairment that affects primarily the lower frequencies. [HPO:probinson]


A increased anteroposterior thickness of the cornea. [HPO:probinson]


A pterygium (or pterygia) in the intercrural (groin) region. [HPO:curators]


Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. [HPO:curators]


Absence of the triceps muscle. [HPO:curators]


An increased level of hypoxanthine in the urine. [HPO:probinson]


A small (less than 5-10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid.


Abnormality of the musculoskeletal system

An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. []


An electrocardiographic finding of U waves which have increased amplitude, are inverted, or merged with the preceding T wave.


Maternal fever during labour
Maternal fever during labor

Elevated body temperature greater than or equal to 38C (100.4F) after the onset of labor but prior to the delivery of the fetus.


Disseminated Bacillus Calmette-Guerin infection

A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of Mycobacterium bovis, bacillus Calmette-Guerin.


An abnormality of the nipple. [HPO:probinson]


Puffiness of upper eyelid
Cellulitis of upper eyelid
Swelling of upper eyelid
Upper eyelid edema
Upper eyelid oedema

Edema in the region of the upper eyelid. [HPO:probinson]


Nonprogressive course
Nonprogressive disorder
Nonprogressive
Stationary
Does not worsen

Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. []


Abnormality of the toenails
Abnormality of the toenail

An anomaly of the toenail. [HPO:probinson]


Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. [HPO:probinson]


Puffiness of lower eyelid
Cellulitis of lower eyelid
Swelling of lower eyelid
Lower eyelid oedema
Fullness of lower eyelid

Edema in the region of the Lower eyelid. [ORCID:0000-0001-5208-3432]


Delayed closure of the anterior fontanelle

Later than typical closing of soft spot of skull

A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. [HPO:probinson]


A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). [PMID:19225307, PMID:22929030]


The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. [PMID:25874832]


A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES.


Sebaceous nevus
Naevus sebaceous
Sebaceous naevus
Sebaceous mole
Nevus sebaceous

A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. [HPO:probinson]


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


A finding of elevated serum level of FERRITIN. It is often associated with IRON OVERLOAD, repeated blood transfusions, malignancy, iron metabolic syndromes, virus infection, liver injury or dysfunction, and renal failure. Hyperferritinemia in iron metabolic syndromes (e.g., Still's diseases, and HEMOPHAGOCYTIC SYNDROME) is referred to as dysmetabolic hyperferritinemia.


Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. [PMID:8358096]


An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. []


A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin. [HPO:probinson]


An abnormal increase in the thickness (diameter) of a tendon. [PMID:24932450]


Fingers appear swollen and plump owing to inflammation of the complete finger. []


Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. [PMID:31151956, PMID:31189067]


Faecal vomiting
Stercoraceous vomiting
Feculent vomiting
Vomiting fecal matter
Vomiting faecal matter

Vomiting of material that is of fecal origin. []


Severe hearing impairment
Severe hearing loss

A severe form of hearing impairment. [HPO:probinson]


Allergy to fungi
Fungus allergy
Fungi allergy

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


Abnormal tendency to infections of the skin

The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. [HPO:probinson]


Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. [HPO:probinson]


Terminal broadening of the toes (distal phalanges of the toes). [HPO:sdoelken]


A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. [DDD:tkuijpers, HPO:probinson, PMID:16623208]


A developmental defect resulting in the presence of fewer than the normal number of digits. [HPO:probinson]


Incomplete duplication of the ureter. [PMID:23513084]


Abnormal fluid filled sac within the kidney, either acquired or congenital.


Muscle spasms
Hyperkinetic movements
Hyperkinesis

Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.


Cervical spine fusion
Fused neck
Fusion of cervical vertebrae
Fused cervical vertebrae

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


Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. [PMID:19667340]


Cessation of air flow due to abnormal central nervous system control.


A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract. [HPO:probinson]


An inability to rest, relax, or be still.


Persistence of immune complexes in the blood circulation. [HPO:probinson]


Proliferation of astrocytes in the area of a lesion of the central nervous system. [HPO:probinson]


A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. [HPO:probinson, PMID:17917462]


A term that refers to central nervous system embryonal tumors which are not fully characterized.

Central primitive neuroectodermal tumour


A finding indicating that the urine production is less than 500 milliliters during a 24 hour period.


Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). [HPO:probinson, PMID:10084535]


Visual field defect
Visual field defects

An absolute or relative reduction in the extent of the normal field of vision.


Seizures in the first years of life characterized by flexion and extension jerks of the neck, trunk, and extremities.


A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. [HPO:probinson]


Protanomaly
Colorblindness, partial, protan series

A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. [HPO:probinson]


Cosman ear
Constricted ear
Question mark ears

Cleft between the helix and the lobe. [eom:cffbc3de49dbb172, PMID:19152421]


A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract. [PMID:9897960]


An arthritis affecting fewer than five separate joints.


Having no significant health-related issues.


An abnormality of the eyebrow. [HPO:probinson]


A increased concentration of alpha-aminoadipic acid in the urine. [https://orcid.org/0000-0002-8169-9049, PMID:117247]


Incisor teeth with irregular edges said to resemble a saw. [ORCID:0000-0003-3475-564X, PMID:25439729]


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


A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. [PMID:21788614, PMID:23599387]


Small tragus
Hypotrophic tragus
Hypoplastic tragus

Decreased posterolateral protrusion of the tragus. [PMID:19152421]


Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system. [LMU:crapp, PMID:31466963, PMID:3359830]


Monkey wrench appearance of femoral neck

Swedish key configuration of the proximal femur

Monkey wrench configuration of the proximal femur

The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. [PMID:7977470]


Any structural anomaly of the mitochondria. [HPO:probinson]


An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. [HPO:probinson, PMID:25029335]


Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. [HPO:probinson, PMID:23281438]


A decreased concentration of free (unbound) carnitine in the blood. [HPO:probinson]


Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. [HPO:probinson, PMID:26918204]


Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body. []


A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. [PMID:18691338]


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


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


Hypoplasia of the ureter
Ureter hypoplasia

Underdevelopment of the ureter. [ORCID:0000-0001-5208-3432]


An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. [HPO:sdoelken]


The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. [HPO:probinson, PMID:19561994]


A type of pituitary adenoma that produces growth hormone. [DDD:spark]


An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. [HPO:probinson]


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


The anatomical localization of the specified phenotypic abnormality. [HPO:probinson]


Antiphospholipid antibodies
Phospholipid antibody positivity
Antiphospholipid antibody

The presence of circulating autoantibodies to phospholipids. [HPO:probinson]


Absent/underdeveloped innermost ring finger bone

Aplasia/Hypoplasia of the proximal phalanx of the 4th finger


Broad proximal phalanx of the 4th finger

Increased width of the proximal phalanx of the 4th finger. [HPO:curators]


Sensory and motor nerve conduction abnormalities

Abnormality of peripheral nerve conduction

An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). [HPO:probinson]


Partial/complete duplication of the phalanges of the hallux


Increased serum bile acid concentration during pregnancy, resolves


The presence of a neoplasm of the testis with origin in a Sertoli cell. [HPO:probinson]


A condition characterized by dilatation of the Bowman space and affecting more than 5% of the glomeruli.


Abnormal female genital system physiology


Abnormal male reproductive system physiology

An abnormal functionality of the male genital system. [HPO:probinson]


Broad nasal dorsum
Increased width of nasal ridge
Broad nasal ridge
Increased width of nasal dorsum
Nasal ridge, wide
Broad dorsum of nose
Wide dorsum of nose
Wide nasal ridge
Increased width of dorsum of nose
Wide nasal dorsum

Increased width of the nasal ridge. [HPO:probinson, PMID:19152422]


Hypoplastic posterior communicating arteries

Hypoplastic posterior communicating artery

Underdeveloped posterior communicating artery. [ORCID:0000-0001-5208-3432]


Non-occlusive coronary artery disease
Non-occlusive coronary artery stenosis
Nonocclusive coronary artery disease

Nonocclusive coronary artery atherosclerosis

Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries. [ORCID:0000-0001-5208-3432]


Diffuse villous hypertrophy of choroid plexus


Increased intramyocellular lipid droplets

An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. [HPO:probinson, PMID:20691590]


Creatine metabolism abnormal
Abnormality of creatine metabolism

Abnormal circulating creatine concentration

A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. [HPO:probinson]


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


An increased concentration of homovanillic acid in the urine. [HPO:probinson, PMID:27830764]


Respiratory complex deficiency, ATPase deficiency


4th toe clinodactyly
Curvature of 4th toe

Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). [HPO:probinson]


Familial primary hyperaldosteronism type 2


Glucocorticoid-remediable familial primary aldosteronism


Familial primary hyperaldosteronism type 1


Corticotropin-releasing hormone receptor (CRHR) resistance


Head circumference small for gestational age


Thin vestibular nerve
Hypoplasia of the eighth cranial nerve
Hypoplasia of cranial nerve VIII

Underdevelopment of the vestibular nerve. [DDD:dfitzpatrick]


An abnormality of the fontanelle. [HPO:probinson, PMID:12825844]


Abnormal ossification involving bones of the feet


Decreased size of the primary palate bone

Underdevelopment of the primary palate bone

An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]


Hypoplasia/agenesis of distal phalanges of toes


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


Ivory epiphysis of the proximal phalanx of the little finger


Cone-shaped epiphysis of the proximal phalanx of the little finger


Cone-shaped end part of the innermost bone of pinkie finger

Cone-shaped end part of the innermost bone of little finger

Cone-shaped end part of the innermost bone of pinky finger

Angel-shaped epiphysis of the proximal phalanx of the 5th finger

Cone-shaped epiphysis of the proximal phalanx of the 5th finger

A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. [HPO:curators]


Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. [eom:ae27d9699faef13a, PMID:19152421]


Decreased activity of mitochondrial complex IV

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


Peg shaped lower front tooth
Pointed mandibular incisors
Conoid mandibular incisor
Cone shaped lower front tooth
Lower front shark tooth

An abnormal conical morphology of the primary or permanent mandibular incisors. [HPO:ibailleulforestier]


Irregular end part of innermost thighbone

Irregular surface of the normally relatively smooth capital femoral epiphysis. [HPO:probinson]


Increased density of spinal bone
Ivory spinal bone
increased spinal bone density Z
Dense spinal bone

Increased bone density affecting the bones of the spine (vertebral column). [HPO:curators]


An abnormal union between bones or parts of bones of the hand. [HPO:sdoelken]


Lytic defects of the phalanges of the ring finger


Advanced maturation of the hand bones
Accelerated maturation of hand bones

Ossification of hand bones at an earlier age than normal. [HPO:probinson]


Advanced maturation of the humeral epiphyses


EMG: spontaneous, repetitive electrical activity


EMG: decrement at repetitive stimulation


Abnormality of neuromuscular transmission


Abnormal shape of pelvic girdle bone
Abnormality of the pelvic girdle

Abnormality of pelvic girdle bone morphology

An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. [HPO:probinson]


Cortical white matter abnormalities seen on MRI


Involvement of the corticospinal pathways


Abnormality of cells of the erythroid lineage

Abnormal erythroid lineage cell morphology

An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. [DDD:akelly]


Abnormality of the abdomen
Abnormality of abdomen morphology
Abdomen abnormality
Abnormality of abdomen structure

A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. [HPO:probinson]


Abnormality of the hip joint
Abnormality of the hip joints

An abnormality of the hip joint. [HPO:probinson]


Defective or absent horizontal voluntary eye movements


Abnormality of the arm
Abnormality of the upper limb

An abnormality of the arm. [HPO:probinson]


Increased side-to-side width of the xiphoid process of the sternum. [HPO:probinson]


Abnormality of urine alpha ketoglutarate concentration

Abnormal urine alpha-ketoglutarate concentration

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


Partial/complete duplication of the phalanges of the 5th toe

Duplication of the bones of the pinky toe

Duplication of the bones of the pinkie toe

Duplication of the bones of the little toe

Duplication of the phalanges of the fifth toe

Duplication of the phalanges of the 5th toe

Partial or complete duplication of one or more phalanx of little toe. [HPO:probinson]


The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). [HPO:jbeats, PMID:10727485]


Osteolytic defects of the phalanges of the thumb

Dissolution or degeneration of bone tissue of one or more phalanges of the thumb. [HPO:probinson]


Absent epiphyses of the hallux
Absent end part of big toe bone

Failure to form (agenesis) of one or more epiphyses of the big toe. [HPO:probinson]


The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. [HPO:probinson]


Hypointensity of cerebral white matter on MRI

A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. [HPO:probinson]


Ala lower than columella
Columella, high insertion

Insertion of the posterior columella superior to the nasal base. [PMID:19152422]


Hypertrophic antihelix stem
Hyperplastic antihelix stem

Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. [PMID:19152421]


Dendritic corneal epithelial ulcer
Herpetiform corneal ulcers

The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. [HPO:probinson]


Flared wide portion of long bone of upper arm

Flaring (increase of width with a splayed appearance) of the humeral metaphysis. [HPO:probinson]


Broad epiphyseal plates of the upper limbs

Wide epiphyseal plates of the upper limbs


Abnormality of vomer
Defect of vomer
Abnormality of vomer bone


Folds or ridges within the concha that are distinct from the crus helix. [eom:40563f1f62db2319, PMID:19152421]


Chin, vertical crease
Chin with vertical sulcus
Vertical chin skin cleft
Chin with vertical furrow
Chin with vertical groove
Vertical menton crease
Chin with vertical crease

Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. [eom:8a5493c72e0dd13c, PMID:19125436]


Absent nail of fifth finger
Absent fifth fingernail

Absence of nail of little finger. [HPO:probinson]


Different levels of maturation of different bones. [HPO:probinson]


Transverse metaphyseal bands
Dense metaphyseal lines

Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. [HPO:sdoelken, PMID:10352605]


Enlarged longitudinal fissure
Enlarged longitudinal cerebral fissure
Enlarged great longitudinal fissure


Enlarged lateral sulcus
Enlarged lateral fissure
Enlarged sylvian fissure

An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). [HPO:probinson]


Enlarged interpeduncular cistern
Enlarged basal cistern


Increased bone density in the outermost bone of the toes

Sclerosis of the distal phalanges of the toes

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


Increased bone density in middle toe bone

Sclerosis of the middle phalanges of the toes

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


Increased bone density in innermost toe bone

Sclerosis of the proximal phalanges of the toes

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


Sclerosis of the phalanges of the hallux

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


Sclerosis of the phalanges of the 5th toe

Increased bone density in pinky toe bone

Increased bone density in pinkie toe bone

Increased bone density in little toe bone

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


Sclerosis of the phalanges of the 4th toe

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


Sclerosis of the phalanges of the 3rd toe

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


Sclerosis of the phalanges of the 2nd toe

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


Increased bone density in foot bone
Sclerosis of bones of the feet

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


Increased bone density in the toe bone
Sclerosis of the phalanges of the toes

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


Increased bone density in thumb bone
Sclerosis of the phalanges of the thumb


Increased bone density in little finger bone

Increased bone density in pinky finger bone

Sclerosis of the phalanges of the 5th finger

Increased bone density in pinkie finger bone

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


Increased bone density in ring finger bone

Sclerosis of the phalanges of the 4th finger

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


Increased bone density in middle finger bone

Sclerosis of the phalanges of the 3rd finger

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


Increased bone density in 2nd finger bone

Sclerosis of the phalanges of the 2nd finger

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


Increased bone density in innermost finger bone

Sclerosis of the proximal phalanges of the hand

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


Increased bone density in middle finger bone of hand

Sclerosis of the middle phalanges of the hand

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


Sclerosis of the distal phalanges of the hand

Increased bone density in outermost finger bone

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


Increased bone density in the finger bone

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


Increased prominence of the xiphoid process of the sternum. [HPO:probinson]


A cleft of the xiphoid process of the sternum. [HPO:sdoelken]


An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. [HPO:sdoelken]


Vein of servelle
Lateral marginal vein of Servelle

Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life. [HPO:sdoelken]


An abnormality of the plantar part of foot, that is of the soles of the feet. [HPO:probinson]


Teleangiectases of soles
Plantar teleangiectasia
Telangiectases of soles

Telangiectases (small dilated blood vessels) located on the skin of sole of foot. [HPO:probinson]


Teleangiectases of palms
Telangiectases of palms and soles

The presence of telangiectases on the skin of palm of hand. [HPO:probinson]


An abnormality of emotional behaviour. [HPO:sdoelken]


Neoplasia of the male external genitalia

A tumor (abnormal growth of tissue) of the male external genitalia. [HPO:sdoelken]


Spock's ear
Vulcan ear
Elfin ear
Pointed helix
Spock ear


Abnormal fingernail development
Dysplastic fingernails

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


Abnormal shape of the end part of the vertebra bone

Abnormality of vertebral epiphysis morphology

An anomaly of one or more epiphyses of one or more vertebrae. []


A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. [DDD:jhurst]


Abnormality of the arachnoid mater
Abnormality of the arachnoidea

An abnormality of the Arachnoid mater. [HPO:sdoelken]


An increase in the degree of curvature of the cornea compared to normal. [DDD:ncarter]


Abnormality of bone trabeculation
Abnormal shape of spongy bone

Abnormal structure or form of trabecular bone. [HPO:probinson]


Coarse trabeculation at metaphyses
Rough trabeculation of bone
Rough bone trabeculation

Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. [PMID:409205]


Abnormal pigmentation of the oral mucosa/gingivae

Abnormal pigmentation of oral mucous membrane

An abnormality of the pigmentation of the mucosa of the mouth. [HPO:probinson]


Nail dyschromia
Abnormality of nail color
Abnormality of nail colour

An anomaly of the color of the nail. [HPO:probinson]


Displacement of the external urethral orifice

Displacement of the male external urethral orifice

A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). [HPO:sdoelken]


Missing nostrils
Abouphalia
Aplasia of the nares

The nostrils (the paired channels of the nose) are not present. [HPO:probinson]


A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly. [HPO:sdoelken]


Abnormality of ossification/mineralisation of vertebrae

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


Abnormal shape of forebrain
Abnormality of the forebrain

An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. [HPO:probinson]


An abnormal site of the kidney. [HPO:probinson]


Ocular inflammation
Inflammatory abnormality of the eye

Inflammation of the eye, parts of the eye or the periorbital region. [HPO:sdoelken]


Abnormality of the joints of the lower limbs


Symphalangism of the middle and proximal phalanges of the 2nd toe

Fused middle and innermost bones of 2nd toe

Proximal/middle symphalangism of 2nd toe

Bony fusion of the middle and proximal phalanges of the 2nd toe. [HPO:sdoelken]


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

Fused innermost and middle pinkie toe bones

Fused innermost and middle little toe bones

Fused innermost and middle pinky toe bones

Proximal/middle symphalangism of 5th toe

Bony fusion of the middle and proximal phalanges of the 5th toe. [HPO:sdoelken]


Symphalangism of the middle and proximal phalanges of the 4th toe

Fused innermost and middle bones of 4th toe

Proximal/middle symphalangism of 4th toe

Bony fusion of the middle and proximal phalanges of the 4th toe. [HPO:sdoelken]


Symphalangism of the middle and proximal phalanges of the 3rd toe

Fused innermost and middle bones of 3rd toe

Proximal/middle symphalangism of 3rd toe

Bony fusion of the middle and proximal phalanges of the 3rd toe. [HPO:sdoelken]


Partial duplication of the innermost bone of the pinkie toe

Partial duplication of the innermost bone of the little toe

Partial duplication of the proximal phalanx of the fifth toe

Partial duplication of the innermost bone of the pinky toe

Partial duplication of the proximal phalanx of the 5th toe

Partial duplication of the proximal phalanx of fifth toe. [HPO:sdoelken]


Partial duplication of the innermost bone of 3rd toe

Partial duplication of the proximal phalanx of the third toe

Partial duplication of the proximal phalanx of the 3rd toe

Partial duplication of proximal phalanx of third toe. [HPO:probinson]


Partial duplication of the middle bone of the pinky toe

Partial duplication of the middle bone of the pinkie toe

Partial duplication of the middle phalanx of the fifth toe

Partial duplication of the middle bone of the little toe

Partial duplication of the middle phalanx of the 5th toe. [HPO:probinson]


Partial duplication of the middle phalanx of the fourth toe

Partial duplication of the middle bone of the 4th toe

Partial duplication of the middle phalanx of the 4th toe

Partial duplication of middle phalanx of fourth toe. [HPO:sdoelken]


Partial duplication of the middle bone of 3rd toe

Partial duplication of the middle phalanx of the third toe

Partial duplication of the middle phalanx of the 3rd toe

Partial duplication of middle phalanx of third toe. [HPO:probinson]


Partial duplication of the outermost bone of the fifth toe

Partial duplication of the outermost bone of the pinky toe

Partial duplication of the outermost bone of the little toe

Partial duplication of the distal phalanx of the fifth toe

Partial duplication of the outermost bone of the pinkie toe

Partial duplication of the distal phalanx of the 5th toe

Partial duplication of the distal phalanx of little toe. [HPO:sdoelken]


Partial duplication of the distal phalanx of the fourth toe

Partial duplication of the outermost bone of the fourth toe

Partial duplication of the distal phalanx of the 4th toe

Partial duplication of the distal phalanx of fourth toe. [HPO:sdoelken]


Partial duplication of the distal phalanx of the third toe

Partial duplication of the outermost bone of the 3rd toe

Partial duplication of the distal phalanx of the 3rd toe

Partial duplication of distal phalanx of third toe. [HPO:sdoelken]


Complete duplication of the innermost bone of the little toe

Complete duplication of the innermost bone of the pinkie toe

Complete duplication of the proximal phalanx of the fifth toe

Complete duplication of the innermost bone of the pinky toe

Complete duplication of the proximal phalanx of the 5th toe

Complete duplication of the proximal phalanx of fifth toe. [HPO:sdoelken]


Complete duplication of the middle bone of the pinkie toe

Complete duplication of the middle phalanx of the fifth toe

Complete duplication of the middle bone of the pinky toe

Complete duplication of the middle bone of the little toe

Complete duplication of the middle phalanx of the 5th toe. [HPO:probinson]


Complete duplication of the middle phalanx of the fourth toe

Complete duplication of the middle bone of the 4th toe

Complete duplication of the middle phalanx of the 4th toe

Complete duplication of middle phalanx of fourth toe. [HPO:sdoelken]


Complete duplication of the middle phalanx of the third toe

Complete duplication of the middle bone of the 3rd toe

Complete duplication of the middle phalanx of the 3rd toe

Complete duplication of middle phalanx of third toe. [HPO:sdoelken]


Complete duplication of the outermost bone of the pinkie toe

Complete duplication of the outermost bone of the pinky toe

Complete duplication of the distal phalanx of the fifth toe

Complete duplication of the outermost bone of the little toe

Complete duplication of the distal phalanx of the 5th toe

Complete duplication of the distal phalanx of little toe. [HPO:sdoelken]


Complete duplication of the distal phalanx of the fourth toe

Complete duplication of the outermost bone of the 4th toe

Complete duplication of the distal phalanx of the 4th toe

Complete duplication of the distal phalanx of fourth toe. [HPO:sdoelken]


Complete duplication of the distal phalanx of the third toe

Complete duplication of the outermost bone of the 3rd toe

Complete duplication of the distal phalanx of the 3rd toe

Complete duplication of distal phalanx of third toe. [HPO:sdoelken]


Partial/complete duplication of the proximal phalanx of the 5th toe

Duplication of the innermost bone of the pinkie toe

Duplication of the innermost bone of the little toe

Duplication of the innermost bone of the pinky toe

Duplication of the proximal phalanx of the fifth toe

Duplication of the proximal phalanx of the 5th toe

Partial or complete duplication of the proximal phalanx of fifth toe. [HPO:probinson]


Duplication of the proximal phalanx of the fourth toe

Partial/complete duplication of the proximal phalanx of the 4th toe

Duplication of the innermost 4th toe bone

Duplication of the proximal phalanx of the 4th toe

Partial or complete duplication of the proximal phalanx of fourth toe. [HPO:sdoelken]


Duplication of the proximal phalanx of the third toe

Duplication of the innermost 3rd toe bone

Partial/complete duplication of the proximal phalanx of the 3rd toe

Duplication of the proximal phalanx of the 3rd toe

Partial or complete duplication of proximal phalanx of third toe. [HPO:sdoelken]


Duplication of the middle bone of the pinky toe

Duplication of the middle phalanx of the fifth toe

Duplication of the middle bone of the pinkie toe

Partial/complete duplication of the middle phalanx of the 5th toe

Duplication of the middle bone of the little toe

Duplication of the middle phalanx of the 5th toe

Partial or complete duplication of the middle phalanx of the 5th toe. [HPO:probinson]


Duplication of the middle bone of the 4th toe

Partial/complete duplication of the middle phalanx of the 4th toe

Duplication of the middle phalanx of the fourth toe

Duplication of the middle phalanx of the 4th toe

Partial or complete duplication of middle phalanx of fourth toe. [HPO:sdoelken]


Duplication of the middle bone of the 3rd toe

Partial/complete duplication of the middle phalanx of the 3rd toe

Duplication of the middle phalanx of the third toe

Duplication of the middle phalanx of the 3rd toe

Partial or complete duplication of middle phalanx of third toe. [HPO:sdoelken]


Duplication of the outermost bone of the fifth toe

Duplication of the outermost bone of the little toe

Duplication of the distal phalanx of the fifth toe

Partial/complete duplication of the distal phalanx of the 5th toe

Duplication of the outermost bone of the pinkie toe

Duplication of the outermost bone of the pinky toe

Duplication of the distal phalanx of the 5th toe

Partial or complete duplication of the distal phalanx of little toe. [HPO:sdoelken]


Duplication of the outermost bone of the 4th toe

Duplication of the distal phalanx of the fourth toe

Partial/complete duplication of the distal phalanx of the 4th toe

Duplication of the distal phalanx of the 4th toe

Partial or complete duplication of the distal phalanx of fourth toe. [HPO:sdoelken]


Duplication of the distal phalanx of the third toe

Duplication of the outermost bone of the 3rd toe

Partial/complete duplication of the distal phalanx of the 3rd toe

Duplication of the distal phalanx of the 3rd toe

Partial or complete duplication of distal phalanx of third toe. [HPO:probinson]


Hypoplastic/small proximal phalanx of the 5th toe

Developmental hypoplasia of the proximal phalanx of fifth toe. [HPO:probinson]


Short proximal phalanx of the fourth toe

Hypoplastic/small proximal phalanx of the 4th toe

Developmental hypoplasia of the proximal phalanx of fourth toe. [HPO:probinson]


Hypoplastic/small proximal phalanx of the 3rd toe

Abnormal reduction in length of proximal phalanx of third toe. [HPO:probinson]


Hypoplastic/small middle phalanx of the 5th toe

Developmental hypoplasia of the middle phalanx of the 5th toe. [HPO:probinson]


Hypoplastic/small middle phalanx of the 4th toe

Developmental hypoplasia of the middle phalanx of fourth toe. [HPO:sdoelken]


Hypoplastic/small middle phalanx of the 3rd toe

Developmental hypoplasia of the middle phalanx of third toe. [HPO:sdoelken]


Hypoplastic/small distal phalanx of the 5th toe

Developmental hypoplasia of the distal phalanx of little toe. [HPO:sdoelken]


Hypoplastic/small distal phalanx of the 4th toe

Developmental hypoplasia of the distal phalanx of fourth toe. [HPO:sdoelken]


Hypoplastic/small distal phalanx of the 3rd toe

Developmental hypoplasia of the distal phalanx of third toe. [HPO:probinson]


Aplasia of the proximal phalanx of the 3rd toe

Absence of proximal phalanx of third toe, owing to a congenital defect of development. [HPO:probinson]


Aplasia of the middle phalanx of the 3rd toe

Developmental aplasia of the middle phalanx of third toe. [HPO:sdoelken]


Aplasia of the distal phalanx of the 3rd toe

Developmental aplasia of the distal phalanx of third toe. [HPO:sdoelken]


Hypoplastic/small phalanges of the 5th toe

Developmental hypoplasia of one or more phalanx of little toe. [HPO:probinson]


Hypoplastic/small phalanges of the 4th toe

Developmental hypoplasia of one or more phalanx of fourth toe. [HPO:probinson]


Hypoplastic/small phalanges of the 3rd toe

Developmental hypoplasia of the phalanx of third toe. [HPO:sdoelken]


Contracture of the distal interphalangeal joint of the second toe

Contracture of the distal interphalangeal joint of the 2nd toe

The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. [HPO:probinson]


Camptodactyly of the 5th toe
Camptodactyly of the fifth toe

Contractures of the proximal interphalangeal joint of the 5th toe

The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the innermost hinge joint of the 4th toe

Contracture of the proximal interphalangeal joint of the 4th toe

The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. [HPO:probinson]


Contracture of the proximal interphalangeal joint of the 3rd toe

The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. [UToronto:htrang]


Camptodactyly of the second toe
Camptodactyly of the 2nd toe

Contracture of the proximal interphalangeal joint of the 2nd toe

The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. [HPO:probinson]


Paramedian cleft of the upper lip
Non-midline cleft of the upper lip

Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. [HPO:probinson]


Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance. [HPO:sdoelken]


Agyrophilic inclusion bodies
Pick inclusion bodies

Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue. [HPO:sdoelken]


Muscle fibre tubuloreticular inclusions
Muscle fiber tubuloreticular aggregates
Muscle fibre tubuloreticular aggregates


Muscle fibre tubular inclusions
Muscle fiber tubular aggregates
Muscle fibre tubular aggregates

Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. [HPO:sdoelken, PMID:15113116]


Wrist bone/ankle bone fusions
Coalescence of carpal and tarsal bones
Carpal and tarsal fusions
Fusion of carpal and tarsal bones

The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. [HPO:sdoelken]


Abnormality of the sinew
Abnormal shape of tendon

An abnormality of the structure or form of the tendons, also often called sinews. [HPO:sdoelken]


Abnormality of the marrow cavity of the long bones

Abnormality of the medullary cavity of the long bones

An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. [HPO:sdoelken]


A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. [HPO:sdoelken]


An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. [HPO:sdoelken]


Abnormal motor nerve conduction velocity


A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. [HPO:probinson]


Morphological abnormality of the horizontal semicircular canal

Morphological abnormality of the lateral semicircular canal


Abnormality of natural killer cell count

Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. [PMID:19278419]


Abnormality of folate in blood
Abnormal serum folate

Any deviation from the normal concentration of folate in the blood circulation. []


Abnormal circulating renin
Abnormal plasma renin

A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. [PMID:12949225]


Absence of CD4+CD25+ T regulatory cells
Absence of CD4+CD25+ Tregs

Absence of CD4-positive, CD25-positive regulatory T cells

Lack of CD4+CD25+ T regulatory cells. [HPO:probinson]


One or more brown punctate macules on the skin of the genitalia. [HPO:probinson, PMID:23650202]


The occurence of an elevated body temperature of the mother during pregnancy. [HPO:probinson, PMID:24567014]


Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. [Neuromics:vstraub]


Muscle fiber desmin-reactive inclusion bodies

Muscle fibre desmin-reactive inclusion bodies

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


The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). [PMID:22770539, UNCL:hlochmueller]

Muscle specific kinase antibody positivity


Increased jitter at single fibre electromyography

The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). [PMID:21654930, UK:rheller]


Abnormal peripheral nervous system synaptic transmission

An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. []


Visually enhanced vestibulo-ocular reflex impairment

Impaired visually enhanced vestibulo-ocular reflex

The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). [HPO:probinson, PMID:16954982]


Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). [PMID:18637037, UKT:rschuele]


Increased amount of peripheral myelination. [HPO:probinson]


Dilatation of the superficial abdominal veins

Increase in diameter of the veins located underneath the skin of the abdomen. [PMID:5897968]


The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. [HPO:probinson]


A decreased amount of dystrophin in muscle fiber tissue. [UToronto:htrang]


A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. [UToronto:HTrang]


Absent merosin staining in muscle biopsy

Lack of merosin protein in the muscle biopsy. []


Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). []


Spreading of the fingers
Splayed fingers

Divergence of digits along the A/P axis (in the plane of the palm). [eom:ebc67f029da3caac, PMID:19125433]


Abnormal motor evoked potentials in the lower limb

Abnormal lower-limb motor evoked potentials

An anomaly identified by motor evoked potentials (MEPs) in the leg. [UToronto:htrang]


Abnormal motor evoked potentials in the upper limb

Abnormal upper-limb motor evoked potentials

An anomaly identified by motor evoked potentials (MEPs) in the arm. [UToronto:htrang]


Hyperplasia of labia majora
Enlarged labia majora

Overgrowth of the outer labia. [HPO:probinson]


Formation of excess connective tissue in the testicle. [HPO:probinson]


Hyperpigmentation of the scrotum
Hyperpigmented scrotum
Increased pigmentation in scrotum

Increased pigmentation (skin color) of the scrotum. [HPO:probinson]


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


This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. [HPO:probinson]


Laterally built up nose
Thick paranasal tissue
Thick tissue around the nose
Fullness of tissue around the nose
Paranasal fullness

Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. [HPO:probinson, PMID:19152422]


Narrow jaw
Narrow mandible
Narrow lower jaw
Narrow lower face
Thin lower jaw

Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). [HPO:probinson, PMID:19125436]


Extra cranial suture
Supernumary cranial suture

A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. [HPO:probinson, PMID:20496093]


A kinked appearance of the brainstem, i.e., an exaggerated flexure. [HPO:probinson, PMID:16301726]


Abnormal intramembranous bone ossification

An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. [HPO:probinson]


Mastoid agenesis
Absent mastoids
Failure of development of mastoid

A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. [HPO:probinson]


Undeveloped small intestine
Small bowel agenesis

Failure to develop of the small intestine. [HPO:probinson]


Absent canines
Failure of development of canine
Failure of development of eye tooth

Agenesis of canine tooth. [HPO:probinson]


Morphological abnormality of the GI tract

Morphological anomaly of the digestive system

Morphological abnormality of the gastrointestinal tract

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


A severe form of conductive hearing impairment. [HPO:probinson]


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


Iron accumulation in brain
Brain iron deposition

An abnormal build up of iron (Fe) in brain tissue. [HPO:probinson]


Abnormality of the suspensory ligament of lens

Abnormal suspensory ligament of lens morphology

An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. [HPO:probinson]


Low urine chloride levels
Decreased urinary chloride

An decreased concentration of chloride in the urine. [HPO:probinson]


A condition in which two ipsilateral ureters unite and drain into the bladder at a single ureteric orifice.


High blood beta-alanine levels
Hyperbetaalaninemia
Hyperbeta-alaninemia

Increased concentration of beta-alanine in the blood. [HPO:probinson]


Absent nail of big toe
Absent big toe nail


Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers [HPO:probinson, Neuromics:vstraub]


Abnormality of neurotransmitter metabolism

An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. [HPO:probinson, MP:0003635]


Aplastic optic nerve
Optic nerve aplasia

Congenital absence of the optic nerve. [HPO:probinson]


Abnormality of the brain
Abnormal shape of brain

A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. [HPO:probinson]


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


Abnormal social behavior
Abnormal social behaviour

An abnormality of actions or reactions of a person taking place during interactions with others. [HPO:probinson]


Protruding heel bone, or calcaneus. [ORCID:0000-0001-5208-3432]


Overgrowth of the choroid plexus. [HPO:probinson, PMID:16523225]


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


An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration. [HPO:probinson]


A reduced level of the complement component C9 in circulation. [https://emedicine.medscape.com/article/135478-overview]


Abnormal isoelectric focusing of serum transferrin, type II pattern

Abnormal isoelectric focusing of serum transferrin, type 2 pattern

Isoelectric focusing of serum transferrin consistent with CDG type II

Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. [HPO:probinson, PMID:15105360, PMID:22516080]


Abnormality of the hypothalamus
Abnormality of hypothalamus morphology
Abnormal shape of hypothalamus

Any structural anomaly of the hypothalamus. [HPO:probinson]


A structural or developmental anomaly of any of the tissues involved in the genital system. [HPO:probinson, MP:0002160]


Abnormal NK cells
Abnormality of natural killer cells

An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. [HPO:probinson, PMID:21212348]


An increase in heart rate with standing of 30 beats per minute or more. [HPO:probinson, PMID:9244228]


Wide fibula
Thick fibula
Wide calf bone
Thick fibulae

Increased width of the cross sectional diameter of the fibula. [HPO:probinson, MP:0008159]


Creatinine levels abnormal
Abnormal blood creatinine level
Abnormal circulating creatinine level

Abnormal circulating creatinine concentration

An abnormal concentration of creatinine in the blood. [HPO:probinson]


Abnormality of circulating catecholamine level

An abnormal catecholamine concentration in the blood. [HPO:probinson]


Abnormality of exocrine pancreas physiology

A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. [HPO:probinson]


Elevated factor V activity
Plasma factor V elevated

Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. [HPO:probinson]


Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. [HPO:probinson, PMID:20514278]


Anterior wedging of the 12th thoracic vertebra

An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). [HPO:probinson]


Proximally placed halluces
Proximal placement of big toe

Proximal mislocalization of the big toe from its normal position. [HPO:probinson]


Short pinkie toe
Short little toe
Short fifth toe
Short pinky toe

Underdevelopment (hypoplasia) of the fifth toe. [HPO:probinson]


Anaemia due to reduced life span of red cells

Anemia due to reduced life span of red cells

A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. [DDD:akelly]


Abnormality of T cell number
Abnormal number of T cells

A deviation from the normal count of T cells. [HPO:probinson]


Asymmetry of nasal tip
Deviated nasal tip
Asymmetry of tip of nose
Nasal tip, deviated
Deviated tip of nose
Crooked tip of nose
Crooked nasal tip

Nasal tip positioned to one side of the midline. [PMID:19152422]


Decreased transverse dimension of philtrum

Decreased horizontal dimension of philtrum

Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. [PMID:19152422]


Philtrum, Midline Sinus
Central sinus of philtrum

Pit in the midline of the philtral groove. [PMID:19152422]


Philtral Ridges, Malaligned
Malaligned philtral columns
Asymmetric philtral columns
Asymmetric philtral ridges

Absence of the usual parallel position of philtral ridges. [PMID:19152422]


Philtrum with midline ridge
Philtrum, midline raphe
Philtrum with central raphe

Narrow ridge in the midline of the philtral groove. [PMID:19152422]


Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. [PMID:19152422]


Impaired touch localisation
Impaired topognosis

A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. [HPO:probinson]


A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). [DDD:spark]


A type of pituitary adenoma that produces gonadotropins. [DDD:spark]


Posterior pituitary dysplasia
Neurohypophysis dysplasia

Abnormal development of the neurohypophysis during embryonic growth and development. [DDD:spark]


Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. [DDD:spark]


An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. [DDD:spark]


An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones. [DDD:spark]


Tertiary adrenal insufficiency
CRH deficient adrenal insufficiency

Corticotropin-releasing hormone deficient adrenal insufficiency

Diminished production of adrenocortical hormones due to presumed insufficient secretion of corticotropin-releasing hormone from the hypothalamus.


Total anomalous pulmonary venous connection, mixed

Mixed total anomalous pulmonary venous connexion

Mixed total anomalous pulmonary venous connection

Type 4 total anomalous pulmonary venous connection. [DDD:dbrown]


Infracardiac total anomalous pulmonary venous connexion

Infracardiac total anomalous pulmonary venous connection

Type 3 total anomalous pulmonary venous connection. [DDD:dbrown]


Cardiac total anomalous pulmonary venous connexion

Total anomalous pulmonary venous connection, intracardiac

Cardiac total anomalous pulmonary venous connection

Type 2 total anomalous pulmonary venous connection. [DDD:dbrown]


Supracardiac total anomalous pulmonary venous connexion

Total anomalous pulmonary venous connection, supracardiac

Supracardiac total anomalous pulmonary venous connection

Type 1 total anomalous pulmonary venous connection. [DDD:dbrown]


Supraventricular tachycardia with an accessory connexion mediated pathway

Supraventricular tachycardia with an accessory connection mediated pathway

Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. [PMID:22459483]


Left ventricular noncompaction cardiomyopathy

An uncommon congenital abnormality where the left ventricular myocardium fails to compact during embryonic development, leading to cardiomyopathy with a variable degree of ventricular dysfunction. There is genetic heterogeneity and phenotypic variability. Characteristically, there are typically deep trabeculations in the noncompacted area, with varying proportions of the LV myocardium compacted. LV noncompaction is associated with rhythm abnormalities including Wolff-Parkinson-White syndrome, conduction defects, and ventricular tachyarrhythmias.

Left ventricular non-compaction cardiomyopathy


Anomalous origin of one pulmonary artery from ascending aorta

Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. [DDD:dbrown, PMID:2590592]


Persistent truncus arteriosus type IV
Type 4 truncus arteriosus

Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. [DDD:dbrown, HPO:probinson]


Persistent truncus arteriosus type III
Type 3 truncus arteriosus

Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta. [DDD:dbrown, HPO:probinson]


Type 2 truncus arteriosus
Persistent truncus arteriosus type II

Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. [DDD:dbrown, HPO:probinson]


Right aortic arch with aberrant left subclavian artery

Right aortic arch with anomalous left subclavian artery

Right aortic arch with retroesophageal left subclavian artery


Common origin of the right brachiocephalic artery and left common carotid artery

The left common carotid artery has a common origin with the innominate artery. [DDD:dbrown, HPO:probinson, PMID:17138027]


Membranous supravalvular mitral stenosis

A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve. [DDD:dbrown]


Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle. [DDD:dbrown, PMID:20404264]


Multiple bilateral congenital hypertrophy of retinal pigment epithelium

Sharply demarcated hyperpigmentation which is congenital. [DDD:gblack]


Single isolated congenital hypertrophy of retinal pigment epithelium

Solitary congenital hypertrophy of retinal pigment epithelium

Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance. [DDD:gblack]


Hyperpigmented fundus
Hyperpigmented fundi

Increased pigmentation of the fundus [DDD:ncarter, ORCID:0000-0003-0986-4123]


Generalized reduced transparency of the stroma of the cornea. [DDD:gblack]


An abnormality of the medulla oblongata, the lower half of the brainstem. [HPO:probinson]


Low maternal serum chorionic gonadotropin

An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. [DDD:hfirth, PMID:2447576]