A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. [DDD:spark, HPO:probinson]


Corticotropin-releasing hormone receptor defect

Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor. [DDD:spark]


Adrenocorticotropin deficient adrenal insufficiency

Adrenal insufficiency secondary to a defect in ACTH production. [DDD:spark]


A functional abnormality of the adrenal glands. [HPO:probinson]


Any structural anomaly of the adrenal glands. [HPO:probinson]


Abnormality of circulating cortisol level

An abnormality of the concentration of cortisol in the blood. [HPO:probinson]


An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. [HPO:probinson]


An abnormality in the range and ease of motion of joints across their normal range. [HPO:probinson]


Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint. [HPO:probinson]


Congenital malformation of the right heart

Defect or defects of the morphogenesis of the right heart identifiable at birth. []


Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. [PMID:18421506]


Abnormal electrophysiology of sinoatrial node origin

An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. [HPO:probinson]


Supraventricular tachycardia with a manifest accessory pathway on the septum


Supraventricular tachycardia with a manifest accessory pathway on the right free wall


Supraventricular tachycardia with a manifest accessory pathway on the left free wall


Supraventricular tachycardia with a manifest accessory pathway


Supraventricular tachycardia with a concealed accessory pathway on the septum


Supraventricular tachycardia with a concealed accessory pathway on the right free wall


Supraventricular tachycardia with a concealed accessory pathway on the left free wall


Supraventricular tachycardia with a concealed accessory connexion

Supraventricular tachycardia with a concealed accessory connection

Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm. [PMID:22459483]


The superior vena cava passes below the aortic arch. [DDD:dbrown]


Single ventricle of indeterminate morphology


Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). [HPO:probinson, PMID:22368654]


Tetralogy of Fallot with atrioventricular canal defect


Tetralogy of Fallot with absent subarterial conus


Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. [DDD:dbrown, PMID:10550884]


Left superior vena cava draining directly to the left atrium

A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. [PMID:18847480]


Bilateral superior vena cava with no bridging vein


Bilateral superior vena cava with bridging vein


DORV with subpulmonary VSD and pulmonary stenosis

Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis

A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]


DORV with subaortic VSD without pulmonary stenosis

A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]

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


DORV with subaortic VSD and pulmonary stenosis

Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis

A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]


DORV with non-committed VSD without pulmonary stenosis

Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:10431853]


DORV with non-committed VSD and pulmonary stenosis

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

A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:10431853]


Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis

A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [PMID:6193702]


Patent ductus arteriosus after premature birth

Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. [DDD:dbrown]


Patent ductus arteriosus after birth at term

Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. [DDD:dbrown]


Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. [DDD:dbrown, HPO:probinson]


The presence of a single coronary artery ostium from which both coronary arteries arise. [DDD:dbrown, HPO:probinson, PMID:4547578]


Anomalous origin of coronary artery from the pulmonary artery

A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta. [DDD:dbrown, HPO:probinson]


Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. [DDD:dbrown]


Partial diaphragmatic absence of pericardium

Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. [DDD:dbrown]


Partial left sided absence of pericardium

A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart. [DDD:dbrown]


Absent lining around of left side of heart

Complete left sided absence of pericardium

A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart. [DDD:dbrown]


Partial right sided absence of pericardium

A congenital anomaly with lack of part of the pericardium on the righthand side of the heart. [DDD:dbrown]


Complete right sided absence of pericardium

No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy. [DDD:dbrown]


Complete diaphragmatic absence of pericardium

No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. [DDD:dbrown]


A developmental defect of the pericardium with congenital onset. [DDD:dbrown]


Congenital anomaly characterized by an extra-cardiac channel connecting the AORTA either to the right or left HEART VENTRICLE.


Multiple muscular ventricular septal defects

A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. [PMID:22718060]


Apical muscular ventricular septal defect

A muscular ventricular septal defect located at the apex of the heart. [DDD:dbrown]


A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. [DDD:dbrown, PMID:19561249]


An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. [DDD:dbrown]


Pulmonary situs ambiguus with bilateral morphologic left lungs

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung. [DDD:dbrown]


Pulmonary situs ambiguus with bilateral morphologic right lungs

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung. [DDD:dbrown, HPO:probinson]


An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. [DDD:dbrown]


Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus. [DDD:dbrown]


An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi. [DDD:dbrown]


Congenitally corrected transposition of the great arteries with ventricular septal defect

A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum. [PMID:21569592, PMID:27777298, PMID:32274202]


Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal. [DDD:dbrown]


Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal. [DDD:dbrown]


Abnormal plane of direction of the heart from the base to the apex. Left sided is normal. [DDD:dbrown]


Right aortic arch with left descending aorta and left ductus arteriosus


Left aortic arch with right descending aorta and right ductus arteriosus

The ring may be completed by the ductal ligament. [DDD:dbrown]


Left aortic arch with retroesophageal right subclavian artery

Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. [DDD:dbrown]


Right aortic arch with retroesophageal diverticulum of Kommerell

Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch. [DDD:dbrown, PMID:12075866]


Left aortic arch with isolated subclavian artery

The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis. [DDD:dbrown]


Left aortic arch with cervical origin of the right subclavian artery


Abnormal branching pattern of the aortic arch

A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. [DDD:dbrown]


Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity. [DDD:dbrown, HPO:probinson, PMID:19479716]


Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum. [DDD:dbrown, HPO:probinson]


A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum. [DDD:dbrown, HPO:probinson]


A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum. [DDD:dbrown, HPO:probinson]


Displacement of the heart outside the thoracic cavity and into the abdomen. [DDD:dbrown]


Short chordae tendineae of the mitral valve

Abnormally short chordae tendineae of the mitral valve. [HPO:probinson]


A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. [DDD:dbrown]

Transitional atrioventricular canal defect


A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. [DDD:dbrown]


Intermediate atrioventricular septal defect

A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices. [DDD:dbrown]

Intermediate atrioventricular canal defect


A tricuspid valve that has failed to open. [DDD:dbrown, PMID:7066117]


An atrioventricular valve that has failed to open (atretic). [DDD:dbrown]


Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. [DDD:dbrown, PMID:6829465]


Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect. [DDD:dbrown, HPO:probinson, PMID:7295418]


An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect. [DDD:dbrown, HPO:probinson, PMID:7295418]


Double inlet to single ventricle with two atrioventricular valves


Double inlet to single ventricle with common atrioventricular orifice


Double inlet to single ventricle of indeterminate morphology

The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle. [DDD:dbrown, HPO:probinson]


The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. [DDD:dbrown, HPO:probinson]

Double inlet atrioventricular connection


Right sided atrium to left ventricle and absent left sided atrioventricular connexion

Right sided atrium to left ventricle and absent left sided atrioventricular connection


Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection


Univentricular heart with absent left sided atrioventricular connexion

Univentricular heart with absent left sided atrioventricular connection


Discordant connection of the cardiac segments

Abnormal connexion of the cardiac segments

Abnormal connection of the cardiac segments

A deviance in the normal connections between two cardiac segements. [PMID:24876921]


Superior-inferior ventricles without criss-cross atrioventricular valves


Criss-cross atrioventricular valves with superior-inferior ventricles

Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side. [PMID:11789809]


Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis. [DDD:dbrown, HPO:probinson]


Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. [DDD:dbrown]


Abnormal spatial orientation of the cardiac segments

Abnormality of the spatial relationship of the cardiac segments to other components of the heart. []


An abnormal shape of the lens. [HPO:probinson]


Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. [HPO:probinson]


Individuals affected by dichromacy possess only two types of cones, instead of three. [HPO:probinson]


The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. [DDD:ncarter]


Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head. [DDD:gblack]


An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. [DDD:ncarter]


Splitting of the retina in the macular region. [DDD:gblack]


Pale often indistinct lesions of the macula. [DDD:gblack]


Congenital absence of the fovea. [HPO:probinson]


Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. [DDD:gblack]


Reduced transparency of the central portion of the corneal stroma. [DDD:ncarter]


An abnormality of the stroma of cornea, also known as the substantia propria of cornea. [DDD:ncarter, HPO:probinson]


Reduced number of corneal endothelial cells

A reduction in the number of corneal endothelial cells. [DDD:ncarter]


Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. [DDD:gblack]


Abnormal migration of corneal endothelium. [DDD:ncarter]


Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. [DDD:gblack]


An abnormal anteroposterior thickness of the cornea. [DDD:gblack]


Developmental abnormality in which the lens and cornea are not separated. [DDD:ncarter]


Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. [HPO:probinson]


An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. [HPO:probinson]


Profound sensorineural hearing impairment

Complete loss of hearing related to a sensorineural defect. [DDD:dfitzpatrick]


Persistence of the stapedial artery, which normally regresses during embryonic life. [DDD:mbitner-glidicz]


Childhood onset sensorineural hearing impairment

Sensorineural hearing impairment with childhood onset. [DDD:dfitzpatrick]


Abnormal shape of small intestinal villus

Abnormality of small intestinal villus morphology


Feeding problem necessitating gastrostomy tube feeding. [DDD:ncarter]


Feeding problem necessitating nasogastric tube feeding. [DDD:ncarter]


Absent/small gallbladder
Absent/underdeveloped gallbladder

Absence or underdevelopment of the gallbladder. [HPO:probinson]


A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum. [DDD:hfirth]


A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine. [DDD:hfirth]


Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). [DDD:whouwehand]


Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). [DDD:whouwehand]


An abnormality of the malleus, an ossicle in the middle ear. [DDD:dfitzpatrick]


An abnormality of the incus, an ossicle in the middle ear. [DDD:dfitzpatrick]


Hyposegmentation of neutrophil nuclei in peripheral blood

Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. [DDD:probinson]


Cognitive, psychiatric or memory anomaly. [DDD:ajackson]


Abnormality of coordination
Coordination issue


An anomaly of the control or production of movement in the central nervous system. [HPO:probinson]


Rhabdomyolysis induced by intake of alcohol. [HPO:probinson]


Rhabdomyolysis induced by anesthesia. [HPO:probinson]


A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. [DDD:hfirth]


A medical history of a fetus or child born to a mother with an autoimmune disease. [DDD:hfirth]


An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. [DDD:hfirth, PMID:19038077]


An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age. [DDD:hfirth, PMID:19038077]


Increased maternal serum alpha-fetoprotein level

High maternal serum alpha-fetoprotein MoM

Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy. [PMID:32039804]


Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637). [HPO:probinson, PMID:16100637]


Hypoplasia of foetal nasal bone
Underdeveloped foetal nose bone
Underdeveloped fetal nose bone

On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637). [HPO:probinson, PMID:16100637]


Short foetal long bone in upper arm length

Short fetal long bone in upper arm length

A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). [HPO:probinson, PMID:16100637]


The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). [DDD:hfirth, PMID:16100637]


An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. [PMID:16100637]


Abnormal blood Cl concentration
Abnormal blood Cl- concentration
Abnormality of chloride homeostasis

An abnormality of chloride homeostasis or concentration in the body. [HPO:probinson]


Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). [HPO:probinson]


Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. [PMID:28939208]


Moderate intrauterine growth retardation

Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age. [DDD:hfirth]


Abnormal umbilical cord blood vessel morphology


Demyelination of peripheral sensory nerves. [HPO:probinson]


Delayed myelination in the peripheral nervous system. [HPO:probinson]


Atrophy of the tibialis muscle. [HPO:probinson]


Abnormality of the dorsal column of the spinal cord

An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. [HPO:probinson]


Absent/underdeveloped cochlea
Absent/small cochlea

Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. [HPO:probinson]


Morphological abnormality of the nerves of the inner ear


Morphological abnormality of the inner ear

A structural anomaly of the internal part of the ear. [HPO:probinson]


An abnormality of the function of the inner ear. [DDD:dfitzpatrick]


Reduction in diameter of the internal auditory canal. [DDD:dfitzpatrick]


Aplasia of the internal auditory canal. [DDD:dfitzpatrick]


Absence of the semicircular canal. [DDD:dfitzpatrick]


Morphological abnormality of the semicircular canal

An abnormality of the morphology of the semicircular canal. [DDD:dfitzpatrick]


Dilatation of the vestibule of the inner ear. [DDD:mbitner-glidicz]


Hypoplasia of the vestibule of the inner ear

Underdevelopment of the vestibule of the inner ear. [DDD:mbitner-glidicz]


Complete absence of the vestibule of the inner ear. [DDD:dfitzpatrick]


Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. [HPO:dfitzpatrick]


Incomplete partition of the cochlea type I

Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. [DDD:mbitner-glidicz, PMID:21849370]


Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. [HPO:probinson]


Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections. []


Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections. []


Reduced pigmentation of hair in patches. [DDD:cmoss]


Abnormality of hair growth rate
Abnormality of pace of hair growth
Abnormality of speed of hair growth

Hair whose growth rate deviates from the norm. [DDD:cmoss]


Abnormal hair quantity
Abnormality of hair density


A congenital abnormality of the distribution of hair growth. [DDD:cmoss]


An abnormality of the distribution of hair growth that is acquired during the course of life. [DDD:cmoss]


Reduced pigmentation of hair diffusely. [DDD:cmoss]


An abnormality of the skin that is restricted to a particular body region. [DDD:cmoss]


Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. [HPO:probinson]


Abnormal abducens nerve morphology
Abnormality of the sixth cranial nerve

Any structural abnormality of the abducens nerve. [HPO:probinson]


An abnormality involving the movement of the eye outwards. [HPO:probinson]


Malformation of the upper lip vermillion

Abnormality of the red part of the upper lip

An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. [HPO:probinson]


Unusual mouth shape
Anomaly of mouth shape
Abnormality of mouth shape

An abnormality of the outline, configuration, or contour of the mouth. [DDD:jhurst]


Anomaly of mouth size
Abnormality of mouth size


Congenital, bilateral, scarlike facial lesions

Bilateral temporal scarlike defects, which are said to resemble forceps marks. [DDD:jclayton-smith, PMID:1401310]

Congenital ectodermal dysplasia of the face


Decrease in size of one side of the face

Unilateral underdevelopment of the facial tissues, including muscles and bones. [DDD:awilkie]


Abnormality of cranial sutures
Abnormality of the skull suture
Abnormality of the cranial sutures
Abnormality of the calvarium sutures
Abnormality of the bregma sutures

Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. [HPO:probinson]


Frontal plagiocephaly
Anterior flat head syndrome
Positional anterior plagiocephaly
Deformational frontal plagiocephaly

Asymmetry of the anterior part of the skull. [DDD:awilkie]


Premature synostosis of only the right lambdoid suture. [DDD:awilkie]


Premature synostosis of only the left lambdoid suture. [DDD:awilkie]


Unicoronal synostosis affecting only the right coronal suture. [DDD:awilkie]


Synostosis affecting only the left coronal suture. [DDD:awilkie]


Unilateral coronal suture craniosynostosis

Synostosis affecting only one of the coronal sutures. [DDD:awilkie]


A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. [PMID:19125433]


Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. [PMID:19125433]


The contour of the foot in lateral profile has a convex shape. [PMID:19125433]


For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. [PMID:19125433]


The absence of a phalangeal segment of a finger. [PMID:19125433]


A soft tissue prominence of the ventral aspects of the fingertips or toe tips. [PMID:19125433]


EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]


EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]


EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]


EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]


EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]


A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. [HPO:probinson]


A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. [HPO:probinson, PMID:17965226]


An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. [HPO:probinson]


Abnormality of urine Ca2+ concentration
Abnormality of urine Ca concentration

Abnormality of urine calcium concentration

An abnormality of calcium concentration in the urine. [HPO:probinson]


An abnormal amount of hydrogencarbonate in the urine. [HPO:probinson]


A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree. [HPO:probinson]


Abnormality of the urinary system physiology


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


Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. [PMID:19152421]


Discontinuity in the convexity of the inferior margin of the lobe. [PMID:19152421]


A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. [HPO:probinson]


A type of cryptotia associated with reduction in size of the antihelix and superior crus. [HPO:probinson]


Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. [PMID:19152421]


Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). [PMID:19152421]


An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura. [HPO:probinson]


Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. [PMID:19152421]


Supernumerary ridge or crus of the ear arising from the antihelix. [PMID:19152421]


No discernible ridge between concha and triangular fossa and helix. [HPO:19152421]


Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. [PMID:19125427]


Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. [PMID:19125427]


Laterally extended eyebrows
Laterally elongated eyebrow
Increased lateral length of eyebrow

An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. [PMID:19125427]


Elevated circulating C-reactive protein concentration

An abnormal elevation of the C-reactive protein level in the blood circulation. [HPO:probinson, PMID:28722873]


Failure of development of eyelid
Hypotrophic eyelid

Absence or underdevelopment of the eyelid. [HPO:probinson]


Depression of frontal cranial suture
Frontal suture depression
Depression of metopic cranial suture

Linear vertical groove in the midline of the forehead, extending from hairline to glabella. [PMID:19125436]


Flat area between the eyebrows
Concave glabella
Deficient area between the eyebrows
Deficiency of glabella
Hypoplasia of glabella
Flat glabella

Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. [HPO:probinson, PMID:19125436]


Vertical forehead wrinkles
Frontal creases of face
Vertical forehead rhytids
Vertical forehead creases

Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. [PMID:19125436]


Vertical facial insufficiency
Short face
Decreased height of face
Decreased vertical dimension of face
Decreased length of face
Vertical deficiency of face
Vertical hypoplasia of face
Vertical Facial Deficiency
Vertical shortening of face
Vertical insufficiency of face
Short facies

Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). [PMID:19125436]


Abnormal morphology of the frontal region

An abnormal shape of the frontal part of the head. [HPO:probinson]


Abnormal shape of posterior skull
Abnormal shape of posterior cranium
Abnormal shape of the back of the head
Abnormal shape of posterior head
Abnormal shape of the back of the skull

An abnormal shape of occiput. [HPO:probinson]


Hypsarrhythmia occurring in one hemisphere. [HPO:jalbers]


EEG with photoparoxysmal response grade IV

Occurrence of generalized epileptiform discharges during photic stimulation. [HPO:jalbers]


EEG with photoparoxysmal response grade III

Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation. [HPO:jalbers]


EEG with photoparoxysmal response grade II

Occurence of epileptiform discharges in occipital and central regions during photic stimulation. [HPO:jalbers]


EEG with photoparoxysmal response grade I

Occurrence of epileptiform discharges in occipital regions during photic stimulation. [HPO:jalbers]


Slowing in occipital areas of the scalp EEG. [HPO:jalbers]


EEG with generalised slow activity grade 3

EEG with generalized slow activity grade 3

Generalized slowing of EEG activity at frequencies between 0.5-3 Hz. [HPO:jalbers]


EEG with generalised slow activity grade 2

EEG with generalized slow activity grade 2

Generalized slowing of EEG activity at frequencies between 4-7 Hz. [HPO:jalbers]


EEG with generalised slow activity grade 1

EEG with generalized slow activity grade 1

Slowing at frequencies between 7.5 and 8.5 Hz. [HPO:jalbers]


Non-continuous diffuse slowing of electroencephalographic patterns. [HPO:jalbers]


EEG showing diffuse slowing without interruption. [HPO:jalbers]


EEG with abnormally slow frequencies. [HPO:jalbers]


EEG frequency is abnormally increased. [HPO:probinson]


EEG with abnormal amplitude. [HPO:jalbers]


EEG with generalised polymorphic epileptiform discharges

EEG with generalized polymorphic epileptiform discharges

Generalized epileptiform discharges of different shapes and frequencies. [HPO:jalbers]


EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]


EEG with generalised epileptiform discharges

EEG with generalized epileptiform discharges

EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. [HPO:jalbers]


EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. [HPO:jalbers]


EEG with focal sharp transient waves of a duration between 80 and 200 msec. [HPO:jalbers]


EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. [HPO:jalbers]


Focal spikes occurring for several seconds. [HPO:jalbers]


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


Polymorphic focal epileptiform discharges

Focal epileptiform discharges of different shapes and frequencies. [HPO:jalbers]


Unilateral multifocal epileptiform discharges

Epileptiform discharges being identified at multiple locations in one hemisphere. [HPO:jalbers]


Uni- and bilateral multifocal epileptiform discharges

Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. [HPO:jalbers]


Bilateral multifocal epileptiform discharges

Epileptiform discharges being identified at multiple locations in both hemispheres. [HPO:jalbers]


Focal EEG discharges with secondary generalisation

Focal EEG discharges with secondary generalization

Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. [HPO:jalbers]


Focal EEG discharges with propagation to ipsilateral hemisphere

Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain. [HPO:jalbers]


Focal epileptiform discharges with limited propagation to contralateral hemisphere

Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. [HPO:jalbers]


EEG with hyperventilation-induced generalised epileptiform discharges

EEG with hyperventilation-induced generalized epileptiform discharges

Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:jalbers]


EEG with hyperventilation-induced focal epileptiform discharges

Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:jalbers]


Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. [HPO:probinson]


EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz). [HPO:jalbers]


EEG dominated by diffuse beta-waves (>13 Hz). [HPO:jalbers]


EEG dominated by diffuse alpha-waves (8-13Hz). [HPO:jalbers]


EEG background activity at 4-5/second. [HPO:jalbers]


An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. [HPO:jalbers]


Partial hyperkinetic seizure
Segmental hyperkinetic seizure
Localised hyperkinetic seizure
Hyperkinetic seizures
Localized hyperkinetic seizure

A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. [HPO:jalbers, PMID:11580774, PMID:28276060, PMID:28276064]


Localized seizure with behavioral arrest

Localised seizure with behavioural arrest

A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure. [HPO:jalbers, PMID:28276060]


Generalised onset clonic seizure
Generalized onset clonic seizure
Generalised clonic seizure
Generalised clonic seizures
Generalised-onset clonic seizure
Generalized-onset clonic seizure
Generalized clonic seizures

Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. [HPO:jalbers, PMID:28276060, PMID:28276064]


Localized myoclonic seizure
Partial myoclonic seizure
Partial myoclonic seizures
Local myoclonic seizures
Segmental myoclonic seizures
Segmental myoclonic seizure
Localised myoclonic seizure
Focal myoclonic seizures

A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. [PMID:11580774, PMID:28276060, PMID:28276064]


Somatosensory auras
Partial somatosensory seizure
Somatosensory aura
Focal somatosensory seizure

Focal sensory seizure with somatosensory features

A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. [HPO:jalbers, PMID:28276060]


Localised seizure with epigastric sensation

Partial seizure with epigastric sensation

Localized seizure with epigastric sensation

Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. [HPO:jalbers, PMID:28276060]


An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. [HPO:jalbers, PMID:28276060, PMID:28276064]


Typical absence seizures starting before the age of 4 years. [HPO:ihelbig]


Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. [HPO:jalbers]


Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. [HPO:ihelbig, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609]


Unknown onset behavioral arrest seizure with impairment of awareness

Behavioral arrest seizure with impairment of awareness irrespective of onset

Unknown onset behavioural arrest seizure with impairment of awareness

Behavioural arrest seizure with impairment of awareness irrespective of onset

A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. [PMID:9738682]


A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. [PMID:18184148]


Age-related posterior subcapsular cataract

A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule. [HPO:probinson, PMID:15708105]


An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. [HPO:probinson]


Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. [HPO:probinson]


Absent/underdeveloped sweat glands
Absent/small sweat glands

Absence or developmental hypoplasia of the sweat glands. [HPO:probinson]


A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. [HPO:probinson]


Any abnormality of the morphology of the major calices or minor calices of the kidney. [HPO:probinson]


Bilateral foetal pyelectasis
Bilateral fetal pyelectasia
Bilateral foetal pyelectasia

A bilateral form of fetal pyelectasis. [HPO:probinson]


A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction. [HPO:probinson, PMID:17322991]


An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). [HPO:probinson]


An abnormality of the morphology of the epidermis. [HPO:probinson]


Any abnormality of the physiological function of the skin. [HPO:probinson]


Abnormal skin morphology
Abnormal skin structure

Any morphological abnormality of the skin. [HPO:probinson]


Abnormality of tumour necrosis factor secretion

Abnormality of tumor necrosis factor secretion

An abnormality in the production or cellular release of tumor necrosis factor. []


An abnormality in the production or cellular release of interleukins (a class of cytokines). []


An abnormality in the production or cellular release of interferons (a class of cytokines). []


An abnormality in the production or cellular release of a chemokine (a class of cytokines). []


Defective production of NFKB1-dependent cytokines

An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. [HPO:probinson]


An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). [HPO:probinson]


Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. [HPO:probinson]


Abnormality of immune serum protein physiology

An abnormality of the concentration or function of circulating immune proteins. [HPO:probinson]


An abnormality in the amount of volume occupied by intravascular blood. [HPO:probinson]


Dentinogenesis imperfecta of both sets of teeth

Dentinogenesis imperfecta of adult and baby teeth

Dentinogenesis imperfecta of primary and permanent teeth

Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. [HPO:ibailleulforestier]


A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. [HPO:ibailleulforestier]


Poorly calcified tooth enamel
Decreased enamel calcification

A form of hypomineralization of enamel characterized by reduced calcification. [PMID:18499550]


Pointed maxillary incisor
Cone shaped maxillary incisor
Cone shaped upper front tooth
Conoid maxillary incisor
Pointed upper front tooth
Peg shaped upper front tooth
Upper front shark tooth

An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both. [HPO:ibailleulforestier]


Peg shaped primary incisor
Conoid primary incisor
Primary front shark tooth
Peg shaped front baby tooth
Conical deciduous incisor
Pointed front baby tooth
Pointed primary incisor
Cone shaped front baby tooth

An abnormal conical morphology of the primary incisor. [HPO:ibailleulforestier]


Increased width of incisor
Hypertrophy of incisor
Increased size of incisor
Large incisor

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


Abnormality of bicuspid morphology
Abnormality of shape of bicuspid
Abnormality of premolar morphology
Abnormality of shape of premolar

An abnormality of morphology of premolar tooth. [HPO:ibailleulforestier]


Abnormality of eye tooth
Abnormality of canine

An abnormality of canine tooth. [HPO:ibailleulforestier]


An abnormality of molar tooth. [HPO:ibailleulforestier]


Abnormality of premolar
Abnormality of bicuspid

An abnormality of premolar tooth. [HPO:ibailleulforestier]


Green coloured teeth
Green teeth
Green tooth shade
Green colored teeth

A green staining of teeth. [PMID:12686928]


Localized hypoplasia of tooth enamel
Localised hypoplasia of tooth enamel
Localised hypoplasia of dental enamel

A localized form of developmental hypoplasia of the dental enamel. [HPO:ibailleulforestier]


Abnormality of tooth colour
Abnormality of tooth color
Abnormality of dental shade
Abnormality of dental color
Abnormality of tooth shade
Abnormality of dental colour

A developmental defect of tooth color. [HPO:ibailleulforestier]


Abnormality of shape of permanent molar
Abnormality of shape of adult molar

Abnormality of permanent molar morphology

An abnormality of morphology of permanent molar. [HPO:ibailleulforestier]


Abnormal shape of molar tooth
Abnormality of molar morphology

An abnormality of morphology of molar tooth. [HPO:ibailleulforestier]


Abnormal number of incisors
Abnormal number of front teeth

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


Abnormality of shape of incisor
Abnormality of incisor morphology

An abnormality of morphology of the incisor tooth. [HPO:ibailleulforestier]


Crooked front teeth
Crooked incisors
Misalignment of incisors
Abnormality of alignment of incisors


Abnormality of tooth part
Abnormality of tooth structure

An abnormality of the structure or composition of the teeth. [HPO:ibailleulforestier]


Dentinogenesis imperfecta limited to primary teeth

Developmental dysplasia of dentin affecting only the primary dentition. [HPO:ibailleulforestier]


Localized periodontal disease
Localised periodontal disease
Localized periodontitis

A localized form of periodontitis. [HPO:ibailleulforestier]


Generalised periodontitis
Generalized periodontitis
Generalised periodontal disease

A generalized form of periodontitis. [HPO:ibailleulforestier]


Failure of development of second permanent molar

Failure of development of twelve year molar

Agenesis of either mandibular second permanent molar or maxillary second permanent molar. [HPO:ibailleulforestier]


Failure of development of first permanent molar

Failure of development of six year molar

Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. [HPO:ibailleulforestier]


Failure of development of permanent molar

Failure of development of secondary molar

Agenesis of secondary molar tooth. [HPO:ibailleulforestier]


Failure of development of mandibular premolar

Agenesis of mandibular premolar. [HPO:ibailleulforestier]


Failure of development of maxillary bicuspid

Failure of development of maxillary premolar

Agenesis of maxillary premolar. [HPO:ibailleulforestier]


Agenesis of bicuspid
Failure of development of premolar
Failure of development of bicuspid

Agenesis of premolar tooth. [HPO:ibailleulforestier]


Failure of development of permanent maxillary lateral incisor

Agenesis of permanent upper lateral incisor

Failure of development of permanent upper lateral incisor

Agenesis of permanent maxillary lateral incisor

Agenesis of one or more upper lateral secondary incisor. [HPO:ibailleulforestier]


Agenesis of deciduous maxillary lateral incisor

Failure of development of deciduous maxillary lateral incisor

Failure of development of primary maxillary lateral incisor

Agenesis of primary maxillary lateral incisor

Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor. [HPO:ibailleulforestier]


Failure of development of permanent mandibular central incisor

Agenesis of adult mandibular central incisor

Agenesis of permanent mandibular central incisor

Agenesis of lower secondary incisor. [HPO:ibailleulforestier]


Failure of development of deciduous mandibular central incisor

Failure of development of primary mandibular central incisor

Agenesis of deciduous lower central incisor

Agenesis of primary lower central incisor

Agenesis of primary mandibular central incisor

Agenesis of lower primary incisor. [HPO:ibailleulforestier]


Failure of development of deciduous maxillary central incisor

Failure of development of primary maxillary central incisor

Agenesis of deciduous maxillary central incisor

Agenesis of primary maxillary central incisor

Agenesis of upper central primary incisor. [HPO:ibailleulforestier]


Failure of development of permanent maxillary central incisor

Agenesis of adult maxillary central incisor

Agenesis of permanent maxillary central incisor

Agenesis of upper secondary incisor. [HPO:ibailleulforestier]


Abnormal number of permanent teeth
Abnormal complement of permanent teeth
Abnormal number of adult teeth
Abnormal permanent tooth count
Abnormal number of secondary dentition

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


Abnormality of circulating adrenocorticotropin level

Abnormality of circulating corticotropin level

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


Abnormal blood K concentration
Abnormality of potassium homeostasis

An abnormal concentration of potassium. [HPO:probinson]


Absent/small cervical spine
Absent/underdeveloped cervical spine

Aplasia/Hypoplasia of the cervical spine

Aplasia or developmental hypoplasia of the cervical vertebral column. [HPO:probinson]


Abnormality of the intrahepatic bile duct

An abnormality of the intrahepatic bile duct. [HPO:probinson]


An abnormality of renal absorption. [HPO:probinson]


An altered ability of the kidneys to void urine and/or specific substances. [HPO:probinson]


An abnormality of the cortex of the kidney. [HPO:probinson]


An impairment of a fructose metabolic process. [HPO:probinson]


An abnormality of the homeostasis (concentration) of iron cation. [HPO:probinson]


Abnormality of transition element cation homeostasis

Abnormal blood transition element cation concentration

An abnormality of the homeostasis (concentration) of transition element cation. [HPO:probinson]


An abnormality of blood circulation. [HPO:probinson]


Absent/small vagina
Absent/underdeveloped vagina

Aplasia or developmental hypoplasia of the vagina. [HPO:probinson]


Abnormality of cardiovascular system physiology

Abnormal cardiovascular system physiology

Abnormal functionality of the cardiovascular system. [HPO:probinson]


Abnormality of the gastrointestinal tract

An abnormality of the gastrointestinal tract. [HPO:probinson]


Abnormality of mucopolysaccharide metabolism

An abnormality of the metabolism of mucopolysaccharide. [HPO:probinson]


An abnormality of chromosome condensation. [HPO:probinson]


An abnormality of the cell cycle. [HPO:probinson]


An abnormality in a cellular process. [HPO:probinson]


Abnormality of blood glucose concentration

An abnormality of the concentration of glucose in the blood. [HPO:probinson]


Abnormality of glucose homeostasis. [HPO:probinson]


Abnormality of the musculature of the neck

Abnormal morphology of the musculature of the neck

An abnormality of the neck musculature. [HPO:probinson]


Absent/small optic tract
Absent/underdeveloped optic tract


Increased susceptibility to spontaneous sister chromatid exchange

An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. [HPO:sdoelken]


Abnormality of the striate nucleus
Abnormality of the neostriatum
Abnormality of the striatum

Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. [HPO:probinson, PMID:21469956]


Abnormality of the abdominal musculature

Abnormal morphology of the abdominal musculature

An abnormality of the abdominal musculature. [HPO:probinson]


Abnormality of the common coagulation pathway

An abnormality of blood coagulation, common pathway. [HPO:probinson]


An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. [HPO:probinson]


An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. [HPO:probinson]


Abnormal cellular immune system morphology

An abnormality of the morphology or counts of the cells that make up the immune system. [HPO:probinson]


A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. [HPO:probinson]


A type of multifactorial inheritance governed by the simultaneous action of two gene loci. [HPO:probinson, ISBN:978-0192628961]


Abnormality of the level of lipoprotein cholesterol

Abnormality of lipoprotein cholesterol concentration

An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. [HPO:probinson]


A functional abnormality of the immune system. [HPO:probinson, MP:0001790]


An abnormality of myeloid leukocytes. [HPO:probinson]


Absence of Lutheran antigen on erythrocytes

Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. [HPO:probinson]


An abnormality of an erythrocyte cell surface molecule. [HPO:probinson]


An abnormality of glycolipid metabolism. [HPO:probinson]


Abnormality of liposaccharide metabolism

An abnormality of liposaccharide metabolism. [HPO:probinson]


Absence of stomach bubble on foetal sonography

Absence of stomach bubble on fetal sonography

By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. [HPO:probinson, PMID:20538709]


A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura. [HPO:probinson, PMID:20610189]


A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung. [HPO:probinson, PMID:20610189]


A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). [HPO:probinson, PMID:16100637]


An abnormality of the third ventricle. [HPO:probinson]


An abnormality of the fourth ventricle. [HPO:probinson]


Abnormality of umbilical vein blood flow

A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. [HPO:probinson]


Abnormality of ductus venosus blood flow

A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus. [HPO:probinson, PMID:16449256, PMID:21048453]


An abnormality of the renal pelvis. [HPO:probinson]


A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. [HPO:probinson, PMID:16100637, PMID:9527573]


Failure of development of the nasal bone

Absence of the nasal bone. [HPO:probinson]


Absence or underdevelopment of the nasal bone. [HPO:probinson]


Abnormality of the nasal bone
Deformity of the nasal bones
Malformation of the nasal bones
Anomaly of the nasal bones

An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. [HPO:probinson]


Anomaly of the external nose
Abnormality of the external nose

An abnormality of the external nose. [HPO:probinson]


Abnormality of the nasal skeleton
Malformation of the bones of the nose
Anomaly of the nasal skeleton
Malformation of the nasal skeleton
Deformity of the bones of the nose
Deformity of the nasal skeleton

An abnormality of the nasal skeleton. [HPO:probinson]


An abnormality of the lower urinary tract. [HPO:probinson]


An abnormality of the upper urinary tract. [HPO:probinson]


Abnormal circulating nucleobase concentration

An abnormality of a nucleobase metabolic process. [HPO:probinson]


Abnormal circulating Na concentration
Abnormal blood Na+ levels
Abnormality of sodium homeostasis

An abnormal concentration of sodium. [HPO:probinson]


Abnormality of monovalent inorganic cation homeostasis

Abnormal blood monovalent inorganic cation concentration

An abnormality of monovalent inorganic cation homeostasis. [HPO:probinson]


An abnormality of cation homeostasis. [HPO:probinson]


Abnormality of divalent inorganic cation homeostasis

Abnormal blood inorganic cation concentration

An abnormality of divalent inorganic cation homeostasis. [HPO:probinson]


A cataract that affects the posterior part of the cortex of the lens. [HPO:probinson]


Abnormal circulating homocysteine concentration

An abnormality of a homocysteine metabolic process. [HPO:probinson]


Abnormal circulating alanine concentration

An abnormality of an alanine metabolic process. [HPO:gcarletti]


Abnormality of pyruvate family amino acid metabolism

Abnormal circulating pyruvate family amino acid concentration

An abnormality of a pyruvate family amino acid metabolic process. [HPO:probinson]


Abnormal circulating valine concentration

Any deviation from the normal circulation of valine in the blood circulation. [HPO:probinson]


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


Abnormal circulating arginine concentration

Any deviation from the normal concentration of arginine in the blood circulation. [HPO:probinson]


Abnormal circulating lysine concentration

Any deviation from the normal concentration of lysine in the blood circulation. [HPO:gcarletti]


Abnormal circulating histidine concentration

An abnormality of a histidine metabolic process. [HPO:probinson]


Abnormal circulating methionine concentration

Any deviation from the normal concentration of methionine in the blood circulation. [HPO:probinson]


Abnormal circulating threonine concentration

Any deviation from the normal concentration of threonine in the blood circulation. [HPO:probinson]


An elevated urinary concentration of sarcosine. [HPO:gcarletti]


Abnormality of serine family amino acid metabolism

Abnormal circulating serine family amino acid concentration

Any deviation from the normal concentration of a serine family amino acid in the blood circulation. [HPO:probinson]


Abnormal circulating phenylalanine concentration

Any deviation from the normal concentration of phenylalanine in the blood circulation. [HPO:probinson]


Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis. [HPO:sdoelken]


Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. [HPO:probinson]


Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). [HPO:probinson, PMID:12751779, PMID:15846173, PMID:28511453]


A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times. [HPO:probinson]


Abnormality of circulating protein level

Abnormal circulating protein concentration

An abnormal level of a circulating protein in the blood. [HPO:probinson]


A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. [HPO:probinson]


A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. [HPO:probinson]


EEG with hyperventilation-induced epileptiform discharges

Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]


Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:probinson]


The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). [HPO:probinson]


EEG with spike-wave complexes (2.5-3.5 Hz)

The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). [HPO:probinson]


Electroencephalogram demonstrated spike-slow wave discharges

The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). [HPO:probinson]


Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). [HPO:jalbers]


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


Abnormal circulating copper concentration

An abnormal concentration of copper. [HPO:probinson]


Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. [HPO:probinson]


Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. [HPO:probinson]


An overlap of the bony plates of the skull in an infant, with or without early closure. [HPO:probinson]


Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. [HPO:probinson, PMID:28276060, PMID:993803]


Abnormal position of hair whorl
Abnormal location of hair swirl

Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. [PMID:19125436]


Abnormal number of hair whorls
Double crown (hair whorls)
Extra hair swirls
Supernumary hair swirls
Extra hair whorl
Supernumary hair whorl
Abnormal number of hair swirls

More than two clockwise hair whorls. [PMID:19125436]


Decreased width of the uvula. [PMID:19125428]


Increased length of the uvula. [PMID:19125428]


Everted upper lip
Outward turned upper lip
Everted prominent upper lip
Eclabium of upper lip

Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. [HPO:probinson, PMID:19125428]


Increased pigmentation around the mouth
Darkening of skin around the mouth

Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. [PMID:19125428]


A glioma affecting the cerebellum. [HPO:probinson]


Impaired visuospatial constructive cognition

Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). [HPO:sdoelken, PMID:10521286]


Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. [HPO:probinson]


Shoulder dimples
Bi-acromial dimples
Acromial dimple

A subtype of skin dimples occurring in the shoulder region. [HPO:probinson, PMID:22679172]


Marked widening of the trachea. [HPO:probinson]


Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection. [HPO:probinson]


Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection. [HPO:probinson]


The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. [HPO:probinson]


Abnormal thickening of the skin localized to the palm of the hand. [HPO:probinson]


Abnormality of the intermaxillary segment of the maxilla

An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. [HPO:sdoelken, ORCID:0000-0001-5889-4463]


Failure of development of the primary palate bone

Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. [HPO:probinson]


Aplasia/hypoplasia of the primary palate bone

Aplasia/hypoplasia of the intermaxillary bone

Absence or underdevelopment of the premaxilla. [HPO:probinson]


Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. [HPO:sdoelken]


Extension of eyebrows towards upper eyelid

The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid. [HPO:sdoelken]


A developmental defect characterized by absence of the retina. [HPO:probinson]


Rupture of the eyeball not due to trauma. [HPO:probinson]


Abnormal distribution of hair
Abnormal hair pattern

An abnormality of the distribution of hair growth. [HPO:probinson]


An abnormality of the texture of the hair. [HPO:probinson]


Syndactyly with fusion of toes three to five. [HPO:sdoelken]


Syndactyly with fusion of toes two to five. [HPO:sdoelken]


Syndactyly with fusion of toes one to four. [HPO:sdoelken]


Webbed 1st-2nd toes
Webbed first and second toes

Syndactyly with fusion of toes one and two. [HPO:sdoelken]


Syndactyly with fusion of fingers three to five. [HPO:sdoelken]


Webbed 1-5 fingers
Webbed 1st-5th fingers

Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). [HPO:sdoelken]


Syndactyly with fusion of fingers one to four. [HPO:sdoelken]


Syndactyly with fusion of fingers one to three. [HPO:sdoelken]


Syndactyly with fusion of fingers four and five. [HPO:sdoelken]


Webbed thumb and index finger
Webbed 1st-2nd finger

Syndactyly with fusion of fingers one and two. [HPO:sdoelken]


A nuclear cataract with a triangular form. [HPO:probinson, PMID:18483562]


A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. [HPO:probinson]


A Lamellar cataract with a pulverulent (punctate, dust-like" opacities) appearance." [HPO:probinson]


Webbed index, middle and pinkie finger
Webbed index, middle and little finger
Webbed 2nd-5th fingers
Webbed index, middle and pinky finger

Syndactyly with fusion of fingers two to five. [HPO:sdoelken]


An abnormally reduced level of alkaline phosphatase, placental type in the blood. [HPO:probinson]


An abnormally reduced level of alkaline phosphatase, intestinal type in the blood. [HPO:probinson]


Low alkaline phosphatase of hepatic origin

An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood. [HPO:probinson]


Low alkaline phosphatase of renal origin

An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. [HPO:probinson]


An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood. [HPO:probinson]


Low tissue non-specific alkaline phosphatase

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


An abnormally increased level of alkaline phosphatase, placental type in the blood. [HPO:probinson]


Elevated intestinal alkaline phosphatase

An abnormally increased level of alkaline phosphatase, intestinal type in the blood. [HPO:probinson]


Elevated alkaline phosphatase of renal origin

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


Enuresis occurring during waking hours of the day. [HPO:sdoelken]


Abnormality of the curvature of the vertebral column

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


Abnormality of the 3rd long bone of foot

Abnormality of the third metatarsal bone

An abnormality of the third metatarsal bone. [HPO:probinson]


Deformity of the cheekbone
Deformity of the zygomatic bone
Anomaly of the zygomatic bone
Malformation of the zygomatic bone
Abnormality of the zygomatic bone
Abnormality of the cheekbone

An abnormality of the zygomatic bone. [HPO:curators]


Underdevelopment of anterior nasal spine

Decreased projection of anterior nasal spine

Underdevelopment of the anterior nasal spine of maxilla. [HPO:probinson]


An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. [HPO:probinson]


A developmental defect characterized by the absence of the third ventricle. [HPO:probinson]


Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). [HPO:curators]


Patchy reduction of bone mineral density

Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. [HPO:curators]


A developmental defect characterized by aplasia of the Falx cerebri. [HPO:probinson]


An abnormality of the Dura mater. [HPO:probinson]


An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. [HPO:probinson]


Depressed nasal alae
Flat nasal alar cartilage

An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). [HPO:probinson]


Any abnormal increase or reduction in skin elasticity. [DDD:cmoss]


Aplasia of the distal phalanges of the toes

Absence of the distal phalanges of the toes. [HPO:curators]


Absence or abnormal closure of the midnasal cavity. [HPO:curators]


Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). [HPO:curators]


Elevated alkaline phosphatase of hepatic origin

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


Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). [HPO:probinson]


Reduced ability to detect any qualitative olfactory sensation. [HPO:curators]


Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). [HPO:curators]


Inability to detect any qualitative olfactory sensation. [HPO:curators]


Abnormality of the end part of the foot bone

Abnormality of the epiphyses of the feet

Any abnormality of the epiphyses of the feet. [HPO:curators]


Abnormal morphology of the cortex of the humerus

Any abnormality affecting the cortex of the humerus. [HPO:curators]


Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. [DDD:spark, HPO:probinson]


Abnormality of the proximal ulnar epiphysis

Any abnormality of the proximal epiphysis of the ulna. [HPO:curators]


Abnormality of the distal ulnar epiphysis

Any abnormality of the distal epiphysis of the ulna. [HPO:curators]


Abnormality of the end part of the outermost long bone in upper arm

Abnormality of the distal humeral epiphysis

Any abnormality of the distal epiphysis of the humerus. [HPO:curators]


Abnormality of the end part of the innermost long bone in upper arm

Abnormality of the proximal humeral epiphysis

Any abnormality of the proximal epiphysis of the humerus. [HPO:curators]


Abnormality of the distal radial epiphysis

Any abnormality of the distal epiphysis of the radius. [HPO:curators]


Abnormality of the proximal radial epiphysis

Any abnormality of the proximal epiphysis of the radius. [HPO:curators]


Abnormality of the outermost end part of calf bone

Abnormality of the distal fibular epiphysis

Any abnormality of the distal epiphysis of the fibula. [HPO:curators]


Abnormality of the innermost end part of calf bone

Abnormality of the proximal fibular epiphysis

Any abnormality of the proximal epiphysis of the fibula. [HPO:curators]


Abnormality of the end part of the calf bone


Abnormality of the end part of outermost shinbone

Abnormality of the end part of outermost shankbone

Abnormality of the distal tibial epiphysis


Abnormality of the end part of innermost shinbone

Abnormality of the end part of innermost shankbone

Abnormality of the proximal tibial epiphysis

Any abnormality of the proximal epiphysis of the tibia. [HPO:curators]


Abnormality of the end part of the outermost thighbone

Abnormality of the distal femoral epiphysis

Any abnormality of the distal epiphysis of the femur. [HPO:probinson]


An abnormal elevation of phytanic acid. [HPO:curators]


An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. [HPO:probinson]


A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. [HPO:probinson]


Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. [HPO:curators]


This term applies if the Epiglottis is absent or hypoplastic. [HPO:curators]


An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. [HPO:curators]


Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. [HPO:curators]


Advanced pneumatization of cranial sinuses

A degree of pneumatization that is increased compared to age-related norms. [HPO:probinson]


An abnormally small sella turcica. [HPO:curators]


The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. [HPO:curators]


Absent/underdeveloped thymus
Absent/small thymus

Absence or underdevelopment of the thymus. [HPO:probinson]


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


An ability of the toe joints to move beyond their normal range of motion. [HPO:curators]


A difference in size or shape between the left and right foot. [HPO:curators]


An abnormal limitation of the mobility of the ankle joint. [HPO:curators]


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


The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). [HPO:probinson]


Abnormal increase in size of the lower limbs (due to an increase of the size of cells). [HPO:curators]


Amniotic constriction rings affecting the legs. [HPO:probinson]


Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments. [HPO:probinson]


Absent/small palm crease
Absent/underdeveloped palm crease

Aplasia/Hypoplasia of the palmar creases

Absence or underdevelopment of the palmar creases. [HPO:curators]


An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). [HPO:probinson]


The ability of the elbow joint to move beyond its normal range of motion. [HPO:curators]


Amniotic constriction rings affecting the arms. [HPO:curators]


Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments. [HPO:curators]


Abnormality of the urachus. [HPO:probinson]


Aplasia (absence) of the urinary bladder. [HPO:probinson]


Absent/underdeveloped bladder
Absent/small bladder

Absence or underdevelopment of the urinary bladder. [HPO:probinson]


Abnormal circulating porphyrin concentration

An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. [HPO:curators]


Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. [HPO:probinson]


Absent/small testes
Absent/underdeveloped testes

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


Absent/underdeveloped ovary
Absent/small ovary

Aplasia or developmental hypoplasia of the ovary. [HPO:probinson]


Abnormality of the male genitalia
Abnormal male genitals

Abnormality of the male genital system. [HPO:probinson]


Abnormality of the female genital system. [HPO:probinson]


Abnormality of the greater sacrosciatic notch

Abnormal greater sciatic notch morphology

An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. [HPO:curators]


Absent/underdeveloped spleen
Absent/small spleen

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


A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. [HPO:probinson]


In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). [HPO:probinson]


In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). [HPO:curators]


Aplasia of the proximal phalanx of the 2nd toe


Aplasia of the middle phalanx of the 2nd toe


Complete duplication of the 2nd toe bones

Complete duplication of the phalanges of the 2nd toe

Complete duplication of a phalanx of second toe. [HPO:sdoelken]


Partial duplication of phalanx of the 2nd toe

Partial duplication of a phalanx of second toe. [HPO:sdoelken]


Partial duplication of the middle bone of the 2nd toe

Partial duplication of the middle phalanx of the 2nd toe

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


Complete duplication of the middle bone of the 2nd toe

Complete duplication of the middle phalanx of the 2nd toe

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


Partial duplication of the outermost bone of the 2nd toe

Partial duplication of the distal phalanx of the 2nd toe

Partial duplication of the distal phalanx of second toe. [HPO:probinson]


Complete duplication of the outermost bone of the 2nd toe

Complete duplication of the distal phalanx of the 2nd toe

Complete duplication of the distal phalanx of second toe. [HPO:probinson]


Triangular shaped outermost 2nd toe bone

Triangular shaped distal phalanx of the 2nd toe


Symphalangism affecting the distal phalanx of the 2nd toe


Uneven increase in bone density in the outermost bone of the 2nd toe

Patchy sclerosis of the distal phalanx of the 2nd toe


Osteolytic defects of the distal phalanx of the 2nd toe


A deviation from the normal straight form of the distal phalanx of the 2nd toe. [HPO:probinson]


Bullet-shaped outermost bone of the 2nd toe

Bullet-shaped distal phalanx of the 2nd toe

An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Broad outermost bone of the 2nd toe
Wide outermost bone of the 2nd toe


Absent/underdeveloped outermost 2nd toe bone

Aplasia/Hypoplasia of the distal phalanx of the 2nd toe


Triangular shaped middle bone of 2nd toe

Triangular shaped middle phalanx of the 2nd toe


Symphalangism affecting the middle phalanx of the 2nd toe


Uneven increase in bone density in the middle bone of the 2nd toe

Patchy sclerosis of the middle phalanx of the 2nd toe


Osteolytic defects of the middle phalanx of the 2nd toe


A deviation from the normal straight form of the middle phalanx of the 2nd toe. [HPO:probinson]


Bullet-shaped middle phalanx of the 2nd toe

An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Absent/underdeveloped middle bone of 2nd toe

Aplasia/Hypoplasia of the middle phalanx of the 2nd toe


Triangular shaped innermost 2nd toe bone

Triangular shaped proximal phalanx of the 2nd toe


Symphalangism affecting the proximal phalanx of the 2nd toe


Uneven increase in bone density in the innermost bone of the 2nd toe

Patchy sclerosis of the proximal phalanx of the 2nd toe


Osteolytic defects of the proximal phalanx of the 2nd toe


A deviation from the normal straight form of the proximal phalanx of the 2nd toe. [HPO:probinson]


Bullet-shaped proximal phalanx of the 2nd toe

An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. [HPO:probinson]


Absent/underdeveloped innermost 2nd toe bone

Aplasia/hypoplasia of the proximal phalanx of the 2nd toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe. [HPO:probinson]


Abnormality of the innermost bone of the pinkie toe

Abnormality of the innermost bone of the pinky toe

Abnormality of the innermost bone of the little toe

Abnormal morphology of the proximal phalanx of the 5th toe


Abnormality of the middle bone of the pinkie toe

Abnormality of the middle bone of the pinky toe

Abnormality of the middle bone of the little toe

Abnormality of the middle phalanx of the 5th toe


Abnormality of the outermost bone of the pinky toe

Abnormality of the outermost bone of the little toe

Abnormality of the outermost bone of the pinkie toe

Abnormality of the distal phalanx of the 5th toe


Triangular shaped pinkie toe bone
Triangular shaped pinky toe bone
Triangular shaped little toe bone

Triangular shaped phalanges of the 5th toe


Fused bones in the little toe
Fused bones in the pinky toe
Fused bones in the pinkie toe

Symphalangism affecting the phalanges of the 5th toe


Osteolytic defects of the phalanges of the 5th toe


Broad bones of the pinky toe
Broad bones of the pinkie toe
Broad bones of the little toe


Absent/small pinkie toe bones
Absent/underdeveloped pinky toe bones
Absent/small little toe bones
Absent/small pinky toe bones

Aplasia/Hypoplasia of the phalanges of the 5th toe


Abnormal morphology of the proximal phalanx of the 4th toe


Abnormality of the middle phalanx of the 4th toe


Abnormality of the outermost 4th toe bone

Abnormality of the distal phalanx of the 4th toe


Triangular shaped phalanges of the 4th toe


Symphalangism affecting the phalanges of the 4th toe


Osteolytic defects of the phalanges of the 4th toe


Absent/underdeveloped bones of 4th toe
Absent/small bones of 4th toe

Aplasia/Hypoplasia of the phalanges of the 4th toe


Abnormality of the innermost bone of 3rd toe

Abnormal morphology of the proximal phalanx of the 3rd toe

An anomaly of the proximal phalanx of third toe. [HPO:probinson]


Abnormality of the middle bone of 3rd toe

Abnormality of the middle phalanx of the 3rd toe


Abnormality of the outermost bone of the 3rd toe

Abnormality of the distal phalanx of the 3rd toe


Triangular shaped phalanges of the 3rd toe


Symphalangism affecting the phalanges of the 3rd toe


Absent/underdeveloped bones of 3rd toe
Absent/small bones of 3rd toe

Aplasia/Hypoplasia of the phalanges of the 3rd toe


Abnormality of the innermost bone of the 2nd toe

Abnormal morphology of the proximal phalanx of the 2nd toe


Abnormality of the middle bone of the 2nd toe

Abnormality of the middle phalanx of the 2nd toe


Abnormality of the outermost bone of the 2nd toe

Abnormality of the distal phalanx of the 2nd toe


Triangular shaped bone of 2nd toe
Triangular shaped bone of second toe

Triangular shaped phalanges of the 2nd toe


Symphalangism affecting the phalanges of the 2nd toe

Fusion of the interphalangeal joints of the 2nd toe. [HPO:probinson]


Osteolytic defects of the phalanges of the 2nd toe


Absent/underdeveloped bones of 2nd toe
Absent/small bones of 2nd toe

Aplasia/Hypoplasia of the phalanges of the 2nd toe


Absent/small pinkie toe
Absent/small pinky toe
Absent/small little toe
Absent/underdeveloped pinky toe


Abnormality of the pinky toe bones
Abnormality of the pinkie toe bones
Abnormality of the little toe bones

Abnormality of the phalanges of the 5th toe


Abnormality of the end part of the pinkie toe bone

Abnormality of the end part of the pinky toe bone

Abnormality of the end part of the little toe bone

Abnormality of the epiphyses of the 5th toe


Absent/underdeveloped 4th toe
Absent/small 4th toe


Abnormality of the phalanges of the 4th toe


Abnormality of the end part of the 4th toe bone

Abnormality of the epiphyses of the 4th toe


Abnormality of the phalanges of the 3rd toe


Abnormality of the end part of the 3rd toe bone

Abnormality of the epiphyses of the 3rd toe


Absent/small 2nd toe
Absent/underdeveloped 2nd toe


Abnormal morphology of phalanx of the 2nd toe

An anomaly of a phalanx of second toe. [HPO:sdoelken]


Abnormality of the end part of the 2nd toe bone

Abnormality of the epiphyses of the 2nd toe


Abnormality of the little toe
Abnormality of the pinky toe
Abnormality of the pinkie toe

An anomaly of the little toe. [HPO:probinson]


An anomaly of the fourth toe. [HPO:probinson]


An anomaly of the third toe. [HPO:probinson]


An anomaly of the second toe. [HPO:probinson]


Absent/underdeveloped abdominal wall muscles

Aplasia/Hypoplasia of the abdominal wall musculature

Absence or underdevelopment of the abdominal musculature. [HPO:curators]


Absent/underdeveloped diaprhagm
Absent/small diaprhagm

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


Absent/small breasts
Absent/underdeveloped breasts

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


Aplasia of the sternum
Breast bone aplasia

The congenital absence of the sternum. [HPO:probinson, PMID:3424262]


An outpouching of the spinal meninges. [HPO:curators]


Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. [HPO:probinson]


An abnormally low-pitched voice. [HPO:curators]


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


Underdevelopment or absence of the uvula. [HPO:curators]


Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). [PMID:19125428]


Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands. [HPO:curators]


Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. [HPO:curators]


Synechiae of the mouth
Oral fibrous bands

Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. [PMID:19125428]


Triangular end part of the innermost hand bones

Triangular epiphyses of the proximal phalanges of the hand


Speckled calcifications in the end part of the innermost hand bones

Stippling of the epiphyses of the proximal phalanges of the hand


Small end part of the innermost hand bones

Small epiphyses of the proximal phalanges of the hand


Pseudoepiphyses of the proximal phalanges of the hand

A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. [HPO:curators]


Increased bone density of end part of the innermost hand bones

Ivory epiphyses of the proximal phalanges of the hand

Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. [HPO:probinson]


Irregular end part of the innermost hand bones

Irregular epiphyses of the proximal phalanges of the hand


Fragmentation of the end part of the innermost hand bones

Fragmentation of the epiphyses of the proximal phalanges of the hand


Enlarged end part of the innermost hand bones

Enlarged epiphyses of the proximal phalanges of the hand


Cone-shaped end part of the innermost hand bones

Cone-shaped epiphyses of the proximal phalanges of the hand