HPO Gene-Disease Associations Dataset

Description phenotype-causing gene mutations of human phenotypes from disease knowledgebases
Measurement association by data aggregation
Association gene-phenotype associations by mapping disease genes to disease phenotypes
Category disease or phenotype associations
Resource Human Phenotype Ontology
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  1. 3158 genes
  2. 6842 phenotypes
  3. 304995 gene-phenotype associations

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phenotype Gene Sets

6842 sets of genes associated with phenotypes by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Gene Set Description
recurrent aspergillus infections An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
abnormality of the neck An abnormality of the neck.
ovoid thoracolumbar vertebrae
cortical tubers Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.
epispadias Displacement of the urethral opening on the dorsal (superior) surface of the penis.
decreased glucosephosphate isomerase activity A decreased rate of glucose-6-phosphate isomerase activity.
microcolon A colon of abnormally small caliber.
abnormal dermatoglyphics An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
focal t2 hyperintense basal ganglia lesion A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.
increased bone mineral density increase in the quatitative measurment value of mineral content of bone; BMD is used as an indicator of bone strength used as a measure of structural strength and screen for osteoporosis; bone mineral density is the ratio of bone mineral content to bone size
liver abscess The presence of an abscess of the liver.
radial deviation of the 2nd finger Displacement of the 2nd finger towards the radial side.
abnormality of the falx cerebri An abnormality of the Falx cerebri.
rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
cardiomegaly Increased size of the heart.
anterior polar cataract A polar cataract that affects the anterior pole of the lens.
abnormality of myeloid leukocytes An abnormality of myeloid leukocytes.
postaxial polydactyly
reduced amplitude of pattern visual evoked potentials
abnormality of gastrointestinal vasculature
slender metacarpals Decreased width of the metacarpal bones (that is, reduced diameter).
abnormal gallbladder morphology A structural anomaly of the gallbladder.
deep venous thrombosis Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
abnormality of the extraocular muscles An abnormality of an extraocular muscle.
pilonidal sinus A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.
butterfly vertebral arch Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.
deviation of the 3rd finger Displacement of the 3rd finger from its normal position.
hypoplastic male external genitalia Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
thyroid hormone receptor defect
focal seizures with impairment of consciousness or awareness A partial seizure characterized by impairment or loss of consciousness.
bronchogenic cyst A rare congenital cystic lesion of the lungs in the mediastinum.
periodontitis
abnormality of the choanae Abnormality of the choanae (the posterior nasal apertures).
abnormality of glycolipid metabolism An abnormality of glycolipid metabolism.
anterior chamber synechiae
abdominal wall muscle weakness Decreased strength of the abdominal musculature.
abnormality of the nasal cavity 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).
stahl ear The presence of a supernumerary, i.e. third, crus of the helix (FMA:61024) in the helix, arising at or above the normal bifurcation of the antihelix.
miosis Abnormal (non-physiological) constriction of the pupil.
small cerebral cortex Reduced size of the cerebral cortex.
birth length less than 3rd percentile
brain abscess A collection of pus, immune cells, and other material in the brain.
renal amyloidosis A form of amyloidosis that affects the kidney.
osteolysis Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
granulomatosis Formation of multiple granulomas, i.e., localized nodular foci inflammation.
abnormality of the immune system An abnormality of the immune system.
agenesis of pineal gland Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.
abnormality of reticulocytes A reticulocyte abnormality.
small nail A nail that is diminished in length and width, i.e., underdeveloped nail.
wide tufts of distal phalanges
laryngeal atresia Congenital absence of the lumen of the larynx.
retinal hypoplasia
megalencephaly Enlargement of all or parts of the cerebral hemispheres.
labial pseudohypertrophy
cerebral palsy A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
abnormality of upper lip An abnormality of the upper lip.
calvarial osteosclerosis An increase in bone density affecting the calvaria (roof of the skull).
hypoplasia of choroid Underdevelopment of the choroid.
abnormality of the middle phalanx of the 5th finger
abnormal ossification of hand bones
hydrocele testis
abnormality of cochlea An abnormality of the cochlea.
aplasia/hypoplasia of the 5th finger A small/hypoplastic or absent/aplastic 5th finger.
abnormality of von willebrand factor Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.
cranium bifidum occultum
absent sternal ossification Lack of formation of mineralized bony tissue of the sternum.
keloids Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair.
fullness of paranasal tissue Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.
duplication of phalanx of toe Partial/complete duplication of one or more phalanx of toe.
absent tibia Absence of the tibia.
type 2 muscle fiber atrophy Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
nausea and vomiting
congenital stapes ankylosis A form of stapes ankylosis with congenital onset.
tachypnea Very rapid breathing.
craniofacial dysostosis A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
flexion contracture A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
abnormality of cardiac ventricle An abnormality of a cardiac ventricle.
abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton.
abnormality of the cerebellar peduncle An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.
thyroid dysgenesis
cleft ala nasi The presence of a notch in the margin of the ala nasi.
pancreatic hyperplasia Hyperplasia of the pancreas.
azotemia An increased concentration of nitrogen compounds in the blood.
juvenile cataract A type of cataract that is not apparent at birth but that arises in childhood or adolescence.
clubbing Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
bacterial endocarditis A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.
branchial fistula A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.
round ear
subarachnoid hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater.
minimal subcutaneous fat
abnormality of the intestine An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
bilateral sensorineural hearing impairment A bilateral form of sensorineural hearing impairment.
decreased facial expression A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.
hypergammaglobulinemia An increased level of gamma globulin (immunoglobulin) in the blood.
recurrent abscess formation An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.
deformed rib cage Malformation of the rib cage.
aplasia/hypoplasia affecting the eye
multiple exostoses Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage.
nephrogenic diabetes insipidus An impaired renal function disease characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).
progressive cataract A kind of cataract that progresses with age.
aplasia of the inferior half of the cerebellar vermis
transient hypophosphatemia
dry skin Skin characterized by the lack of natural or normal moisture.
spastic dysarthria A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.
synostosis involving bones of the fingers An abnormal union between bones or parts of bones of the fingers. The synonymous term symphalangism of the hand may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are revered to as Symphalangism the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are refered to as bony Syndactyly.
hypoproteinemic edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).
nail dystrophy Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
abnormality of the gingiva Any abnormality of the gingiva (also known as gums).
acute colitis An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).
irregular ossification at anterior rib ends
bracket epiphyses of the 2nd finger Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
abnormality of the lung An abnormality of the lung.
recurrent mandibular subluxations Recurrent partial dislocations of the mandible.
basal cell carcinoma A skin carcinoma affecting basal cells.
cerebral edema
aplasia cutis congenita of scalp A developmental defect resulting in the congenital absence of skin on the scalp.
single naris The presence of only a single nostril.
neoplasm of the thymus A tumor (abnormal growth of tissue) of the thymus.
gonadal dysgenesis A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
morphological abnormality of the gastrointestinal tract Abnormal structure of the gastrointestinal tract.
enlarged vestibular aqueduct OMIM mapping confirmed by DO. [SN].
branchial anomaly Congenital developmental defect arising from the primitive branchial apparatus.
congenital microcephaly Microcephaly (HP:0000252) that is present already at the time of birth.
cns hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
insulin insensitivity Decreased sensitivity toward insulin.
amyotrophic lateral sclerosis A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
superior pectus carinatum Pectus carinatum affecting primarily the superior part of the sternum.
spastic ataxia
aplasia/hypoplasia of the fallopian tube Aplasia or developmental hypoplasia of the fallopian tube.
difficulty standing
choreoathetosis Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
precocious puberty The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
abnormality of the basal ganglia
abnormality of the vena cava
proximal tapering of metacarpals Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.
intraretinal exudate Retinal exudate within the retinal tissue itself.
mandibular hyperostosis Hyperostosis (bony overgrowth) of the mandible.
progressive inability to walk
chronic lymphatic leukemia A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood.
round face The facial appearance is more circular than usual as viewed from the front.
limb hypertonia
rhythm disturbances associated with pheochromocytoma
ewing's sarcoma A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm.
subungual fibromas The presence of fibromata beneath finger or toenails.
abnormality of sharpey fibers An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.
impaired collagen-induced platelet aggregation Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
increased serum prostaglandin e2 An increased concentration of prostaglandin E2 in the blood.
childhood-onset short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.
absent fifth fingernail Absence of nail of little finger.
aplasia of the uterus Aplasia of the uterus.
occipital meningocele
recurrent fungal infections Increased susceptibility to fungal infections, as manifested by recurrent episodes of fungal infection.
reduced protein s activity
polymorphous posterior corneal dystrophy This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.
broad phalanx of the toes Increased width of phalanx of toe of one or more toes.
seizures Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
potter facies A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
triangular epiphyses of the 3rd finger A triangular appearance of the epiphyses of the 3rd finger of the hand.
occipital encephalocele A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
dysesthesia Abnormal sensations with no apparent physical cause that are painful or unpleasant.
spinocerebellar tract disease in lower limbs
platelet antibody positive The presence in the serum of autoantibodies directed against thrombocytes.
bowed forearm bones A bending or abnormal curvature affecting either the radius, the ulna, or both.
acromesomelia Small hands and feet.
thick eyebrow Increased density/number and/or increased diameter of eyebrow hairs.
teratoma A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers.
cardiac arrest A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.
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.
increased upper to lower segment ratio Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.
pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
hypomethioninemia A decreased concentration of methionine in the blood.
hypoplasia of lymphatic vessels Congenital underdevelopment of lymph vessels.
small pituitary gland An abnormally decreased size of the pituitary gland.
abnormality of the thorax Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
onycholysis Detachment of the nail from the nail bed.
myositis A myopathy characterized by muscle inflammation.
tricuspid stenosis A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve.
puberty and gonadal disorders
fetal polyuria Abnormally increased production of urine by the fetus resulting in polyhydramnios.
lacrimal gland aplasia A congenital defect of development characterized by absence of the lacrimal gland.
paralytic ileus
mesomelic arm shortening Shortening of the middle parts of the arm in relation to the upper and terminal segments.
low alkaline phosphatase Abnormally reduced serum levels of alkaline phosphatase activity.
palmoplantar keratosis with erythema and scale
urethral valve The presence of an abnormal membrane obstructing the urethra.
abnormality of the hypothalamus-pituitary axis Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
abnormality of the head An abnormality of the head.
abnormal motor nerve conduction velocity
white forelock A triangular depigmented region of white hairs located in the anterior midline of the scalp.
small proximal tibial epiphyses Reduced size of the proximal epiphysis of the tibia.
unsteady gait
patchy hypopigmentation of hair Reduced pigmentation of hair in patches.
abnormal maternal serum screening An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.
segmental peripheral demyelination/remyelination A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
broad forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
nephronophthisis An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).
central hypotonia Reduced muscle tone secondary to an abnormality of the central nervous system.
episodic tachypnea Episodes of very rapid breathing.
abnormality of the hairline The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.
cystathioninemia An increased concentration of cystathionine in the blood.
abnormality of the cornea Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
malformation of the heart and great vessels
abnormality of the frontal sinuses
exercise-induced muscle cramps Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
developmental stagnation A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.
synostosis involving digits
abnormality of metacarpophalangeal joint An anomaly of a metacarpophalangeal joint.
elevated urinary epinephrine An increased concentration of adrenaline in the urine.
abnormality of the femoral neck or head region
nevus flammeus A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
clumsiness Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
renal salt wasting A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
abnormality of the intrahepatic bile duct An abnormality of the intrahepatic bile duct.
sparse lateral eyebrow Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
vocal cord paralysis (caused by tumor impingement)
macrodactyly of finger A type of Macrodactyly affecting one or several fingers.
cervical instability
cortical gyral simplification An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex.
tubulointerstitial fibrosis Fibrosis that involves the tubules and interstitial tissue of the kidney.
tapering pointed ends of distal finger phalanges A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).
abnormality of fluid regulation An abnormality of the regulation of body fluids.
abnormality of the philtrum An abnormality of the philtrum.
lattice corneal dystrophy
high-frequency hearing impairment
short distal phalanx of finger Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
presenile cataracts Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.
thin skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
abnormality of the dentate nucleus An abnormality of the dentate nucleus.
renal magnesium wasting High urine magnesium in the presence of hypomagnesemia.
foot dorsiflexor weakness Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
hypoplasia of the musculature Underdevelopment of the musculature.
progressive hearing impairment A progressive form of hearing impairment.
tarsal synostosis Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
aplasia/hypoplasia of the uvula Underdevelopment or absence of the uvula.
abnormality of the fallopian tube An abnormality of the fallopian tube.
sagittal craniosynostosis A kind of craniosynostosis affecting the sagittal suture.
camptodactyly of finger The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
gastrointestinal stroma tumor
iga deficiency A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
epileptic spasms A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure.
preductal coarctation of the aorta Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.
symphalangism of middle phalanx of finger Fusion of a middle phalanx of a finger with another bone.
brittle hair Fragile, easily breakable hair, i.e., with reduced tensile strength.
clubbing of fingers Terminal broadening of the fingers (distal phalanges of the fingers).
lumbar kyphoscoliosis
abnormality of secondary sexual hair Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.
pace of progression
acute demyelinating polyneuropathy Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.
juvenile colonic polyposis The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.
aortic regurgitation An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
abnormality of the pineal gland An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.
abnormality of the crus of the helix An abnormality of the crus of the helix (FMA:61024), which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.
contiguous gene syndrome
synovial hypertrophy
aplasia/hypoplasia of the distal phalanx of the 5th finger
abnormality of the acetabulum An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.
phenylpyruvic acidemia
proximal amyotrophy Amyotrophy (muscular atrophy) affecting the proximal musculature.
cranial hyperostosis Excessive growth of the bones of cranium, i.e., of the skull.
acute hepatic failure Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
urinary tract neoplasm An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra.
protanomaly A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.
juvenile aseptic necrosis Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.
thyroid carcinoma A thyroid cancer that has_material_basis_in epithelial cells.
diffuse palmoplantar keratoderma
abnormality of vision Abnormality of eyesight (visual perception).
mortality/aging
bony spicule pigmentary retinopathy A term for the pigmented cells within the retina in retinitis pigmentosa because of their resemblance to the nucleated cells within the lacuna of bone.
irregular sclerosis of hand bones
dense deposit disease A type of membranoproliferative glomerulonephritis characterized by electron dense deposits at the glomerular basement membrane.
erythema Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
eeg with generalized epileptiform discharges EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
organic aciduria An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
thickened achilles tendon An abnormal thickening of the Achilles tendon.
levator palpebrae superioris atrophy Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.
scapuloperoneal myopathy A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
anterior beaking of lumbar vertebrae Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.
abnormality of the sense of smell An anomaly in the ability to perceive and distinguish scents (odors).
scapular exostoses The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage.
alopecia of scalp
recurrent staphylococcal infections
intimal thickening in the coronary arteries
limb pain Chronic pain in the limbs with no clear focal etiology.
aplasia/hypoplasia of the tragus Aplasia or developmental hypoplasia of the tragus.
cns demyelination A loss of myelin from nerve fibers in the central nervous system.
moderately short stature A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.
dysgerminoma A germ cell cancer that derives_from cells that give rise to egg cells.
type 1 muscle fiber predominance An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
metaphyseal cupping of metacarpals Metaphyseal cupping affecting the metacarpal bones.
gastrointestinal carcinoma A gastrointestinal system cancer that has_material_basis_in epithelial cells.
abnormality of central somatosensory evoked potentials
hypoparathyroidism A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
pulverulent cataract A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.
bracket epiphyses of the phalanges of the hand Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
decreased circulating aldosterone level A decreased level of aldosterone in the blood.
cerebral aneurysm
synotia A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.
endometrial carcinoma A endometrial cancer that is located_in the tissue lining the uterus.
abnormality of permanent molar morphology An abnormality of morphology of permanent molar.
large sella turcica An abnormal enlargement of the sella turcica.
oligodactyly (feet) A developmental defect resulting in the presence of fewer than the normal number of toes.
lack of spontaneous play
bracket epiphysis of the middle phalanx of the 2nd finger
progressive congenital scoliosis A progressive form of scoliosis with congenital onset.
impaired adp-induced platelet aggregation Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
thoracolumbar kyphosis Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.
abnormality of lower limb bone
choroidal hemangiomata The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.
testicular dysgenesis
lenticonus A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
loss of ability to walk
hemifacial spasm A segmental myoclonus of muscles innervated by the facial nerve.
intraocular melanoma An ocular cancer that has_material_basis_in melanocytes and is located_in the eye.
hypoplastic female external genitalia Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).
urinary incontinence Loss of the ability to control the urinary bladder leading to involuntary urination.
paramedian lip pit Depression located paramedially on the vermilion of a lip.
sclerotic scapulae Increased density of the bony tissue of the scapula.
methemoglobinemia
enlarged epiphysis of the proximal phalanx of the 3rd finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.
abnormality of muscle physiology A functional abnormality of a skeletal muscle.
enlarged cisterna magna Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
sclerotic vertebral endplates Sclerosis (increased density) affecting vertebral end plates.
exercise-induced rhabdomyolysis Rhabdomyolysis induced by exercise.
sparse body hair Sparseness of the body hair.
horizontal nystagmus Nystagmus consisting of horizontal to-and-fro eye movements.
decreased circulating cortisol level Abnormally reduced concentration of cortisol in the blood.
left bundle branch block A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
absent middle phalanx of 5th finger Absence of the middle phalanx of the little (5th) finger.
congenital hypoparathyroidism Deficiency of parathyroid hormone with congenital onset.
progressive visual field defects
failure of eruption of permanent teeth Lack of tooth eruption of the secondary dentition.
malignant neoplasm of the central nervous system
tricuspid valve prolapse
abnormal rod and cone electroretinograms An abnormality of the combined rod-and-code response on electroretinogram.
auditory hallucinations
retinal dystrophy
herpetiform corneal ulceration The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.
microtia, second degree Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.
muscle hyperirritability
telangiectasia macularis eruptiva perstans
nail dysplasia The presence of developmental dysplasia of the nail.
hypoglycinemia An abnormally reduced concentration of glycine in the blood.
diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
abnormality of the parathyroid physiology A functional abnormality of the parathyroid gland.
abnormality of the corpus callosum Abnormality of the corpus callosum.
malnutrition
neonatal unconjugated hyperbilirubinemia
cerebral white matter atrophy The presence of atrophy (wasting) of the cerebral white matter.
symmetrical progressive peripheral demyelination A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
retinal dysplasia The presence of developmental dysplasia of the retina.
cerebral venous thrombosis disease cluster belonging to disease group cardiovascular
periapical radiolucency Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).
paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
aortic tortuosity Abnormal tortuous (i.e., twisted) form of the aorta.
premature peripheral vascular disease
atrophy/degeneration affecting the central nervous system
abnormality of the achilles tendon An abnormality of the Achilles tendon.
crumpled ear Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.
renal potassium wasting High urine potassium in the presence of hypokalemia.
abnormality of the thumb An anomaly of the thumb.
dorsal column degeneration
renal aminoaciduria An increased concentration of an amino acid in the urine, due to a decreased kidney functionality .
abnormality of the myocardium
restlessness
colpocephaly Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.
abnormality of complement system An abnormality of the complement system.
hypopigmentation of hair
abnormality of the medullary cavity of the long bones An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.
medulloblastoma An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
aplasia/hypoplasia involving the nose Underdevelopment or absence of the nose or parts thereof.
small sella turcica An abnormally small sella turcica.
genetic anticipation A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next.
loss of ability to walk in first decade
elevated serum creatine phosphokinase An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
abnormality of the phalanges of the 5th finger Abnormality of the phalanges of the 5th (little) finger.
aplasia/hypoplasia of the frontal sinuses Absence or underdevelopment of frontal sinus.
abnormal albumin level Deviation from normal concentration of albumin in the blood.
abnormality of glycoprotein metabolism An abnormality of a glycoprotein metabolic process.
iris coloboma A coloboma of the iris.
urticaria A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
increased purine levels
glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
cerebellar cortical atrophy Atrophy (wasting) of the cerebellar cortex.
enlarged epiphyses of the proximal phalanges of the hand
testicular microlithiasis The deposition of calcium phosphate microliths within the seminiferous tubules.
white eyelashes White color (lack of pigmentation) of the eyelashes.
pancreatic cysts A cyst of the pancreas that possess a lining of mucous epithelium.
chronic active hepatitis
genital hernia
pustule A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
fragmented, irregular epiphyses
recurrent pharyngitis An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.
abnormality of blood glucose concentration An abnormality of the concentration of glucose in the blood.
speech articulation difficulties Impairment in the physical production of speech sounds.
posterior lenticonus A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.
myopia A refractive error characterized by the inability to see farther objects clearly.
digenic inheritance A type of multifactorial inheritance governed by the simultaneous action of two gene loci.
parathyroid hypoplasia Developmental hypoplasia of the parathyroid gland.
t lymphocytopenia An abnormally low count of T cells.
postnatal macrocephaly The postnatal development of an abnormally large skull (macrocephaly).
accessory carpal bones The presence of more than the normal number of carpal bones.
platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
cystathioninuria An elevated urinary concentration of cystathionine.
chronic atrophic gastritis A form of chronic gastritis associated with atrophic gastric mucous membrane.
aplasia/hypoplasia of the lungs
abnormality of the renal tubule An abnormality of the renal tubules.
neonatal hyperbilirubinemia A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.
thickened cortex of long bones Abnormal thickening of the cortex of long bones.
deformed radius
diffuse reticular or finely nodular infiltrations
melanoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
shoulder flexion contracture Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
visceral angiomatosis
abnormality of the shoulder An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
cherry red spot of the macula Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.
neuroepithelial neoplasm A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.
adrenal calcification Calcification within the adrenal glands.
myofibrillar myopathy Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.
pointed chin A marked tapering of the lower face to the chin.
cervical vertebral fusion (c2/c3)
thickened superior cerebellar peduncle Increased width of the superior cerebellar peduncle.
cyanosis A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule.
abnormality of the 3rd toe An anomaly of the third toe.
bladder exstrophy Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall
orchitis
recurrent bacterial infections Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.
intellectual disability, moderate Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
facial wrinkling Excessive wrinkling of the skin of the face.
aplasia of the tarsal bones Absence of the tarsal bones.
renal cell carcinoma A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.
pancreatic hypoplasia Hypoplasia of the pancreas.
childhood onset Onset of disease at the age of between 1 and 5 years.
atrophy/degeneration involving the corticospinal tracts
fatal liver failure in infancy
white matter neuronal heterotopia
iron deficiency anemia
absent or minimally ossified vertebral bodies
reduction of neutrophil motility An abnormal reduction of the cell motility of neutrophils.
cloverleaf skull Trilobar skull configuration when viewed from the front or behind.
distal upper limb muscle weakness Reduced strength of the distal musculature of the arms.
rhabdomyosarcoma A skeletal muscle cancer that arise from skeletal muscle progenitors.
aplasia of the proximal phalanges of the hand
abnormality of forearm bone
abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).
igm deficiency An abnormally decreased level of immunoglobulin IgM in blood.
low gonadotropins (secondary hypogonadism)
decreased cervical spine flexion due to contractures of posterior cervical muscles
nephropathy A urinary system disease that is located_in the kidney.
osteolytic defects of the distal phalanges of the hand
short nasal bridge
hypochloremia An abnormally decreased chloride concentration in the blood.
absent fingernail Absence of a fingernail.
aortic root dilatation
aplasia/hypoplasia of the quadriceps Absence or underdevelopment of the quadriceps muscle.
eosinophilia
abnormality of chromosome condensation An abnormality of chromosome condensation.
abnormality of prostaglandin metabolism An abnormality of prostaglandin metabolism.
progressive spastic paraplegia
mandibular prognathia Abnormal prominence of the chin related to increased length of the mandible.
absent earlobe Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
neurodevelopmental abnormality A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
generalized osteosclerosis An abnormal increase of bone mineral density with generalized involvement of the skeleton.
malignant mesothelioma A cell type cancer that has_material_basis_in mesothelial tissue.
biceps aplasia Absence of the biceps muscle.
red hair
aplasia/hypoplasia involving the musculature of the upper arm Absence or underdevelopment of the muscles of the upper arm.
lower extremity joint dislocation Displacement or malalignment of one or more joints in the lower extremity (leg).
abnormality of connective tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
abnormality of upper limb bone
abnormality of thumb phalanx A structural anomaly of one or more phalanges of the thumb.
susceptibility to chickenpox
abnormal enchondral ossification An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
yellow-brown discoloration of the teeth
folate-dependent fragile site at xq28 The presence of a folate sensitive fragile site at chromosome Xq28.
cystic lesions of the pinnae
peroneal muscle weakness Weakness of the peroneal muscles.
abnormality of the odontoid process Abnormality of the dens of the axis, which is also known as the odontoid process.
neoplasm of the oral cavity A tumor (abnormal growth of tissue) of the oral cavity.
anterior encephalocele
deviation of the hallux Displacement of the big toe from its normal position.
madelung-like forearm deformities
u-shaped upper lip vermilion Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.
abnormal number of vertebrae A deviation from the normal number of vertebrae in the spinal column.
enlargement of the costochondral junction Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
neonatal breathing dysregulation
postural hypotension with compensatory tachycardia
calcification of the aorta Calcification, that is, pathological deposition of calcium salts in the aorta.
mandibular aplasia Absence of the mandible.
epididymitis
progressive cone degeneration
decreased adipose tissue around neck Reduced amount of adipose tissue in the region of the neck.
abnormal platelet membrane protein expression Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.
posterior subcapsular cataract A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
2-3 toe syndactyly Syndactyly with fusion of toes two and three.
hypometric saccades Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
long face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
external ear malformation A malformation of the auricle of the ear.
enlarged metaphyses Abnormal increase in size of one or more metaphyses.
abnormality of alanine metabolism An abnormality of an alanine metabolic process.
short chordae tendineae of the tricuspid valve Abnormally short chordae tendineae of the tricuspid valve.
partial agenesis of the corpus callosum A partial failure of the development of the corpus callosum.
mitochondrial myopathy A myopathy that is characterized by mitochondrial dysfunction.
reticulated skin pigmentation
esophageal carcinoma A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
atlantoaxial abnormality An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.
ventricular septal defect A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.
abnormality of the lower limb An abnormality of the leg.
frontal balding Absence of hair in the anterior midline and/or parietal areas.
abnormality of thrombocytes An abnormality of platelets.
bifid scrotum Midline indentation or cleft of the scrotum.
polyclonal elevation of igm
low cholesterol esterification rates A reduction in the rate of cholesterol esterification.
aplasia/hypoplasia of the scapulae
diffuse mesangial sclerosis Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
hypoplasia of the ventral pons Underdevelopment of the ventral portion of the pons.
delayed puberty Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
abnormality of the posterior pituitary An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
hypotrichosis of the scalp Reduced or lacking hair growth of the scalp.
focal seizures without impairment of consciousness or awareness A partial seizure in which consciousness is maintained.
pseudoepiphyses of the 2nd finger A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis.
broad hallux Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
upper limb metaphyseal widening Increased width (breadth) of metaphyses of the arms.
tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
absent nasal septal cartilage Lack of the cartilage of the nasal septum.
abnormal mitochondria in muscle tissue An abnormality of the mitochondria in muscle tissue.
abnormality of the thymus Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
hypotrophy of the small hand muscles
sclerotic cranial sutures An increased density in the cranial sutures following obliteration.
two carpal ossification centers present at birth
abnormality of the musculature of the upper limbs
limb-girdle muscular dystrophy A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
hypophosphatemia
eeg with burst suppression The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.
abnormality of the anterior chamber Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.
chronic furunculosis 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.
intermittent thrombocytopenia Reduced platelet count that occurs sporadically, i.e., it comes and goes.
gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract.
esotropia Esotropia is a strabismus in which the eye turns inward toward the nose.
short nose Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
polyuria An increased rate of urine production.
heterotopia
tented upper lip vermilion Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
erectile abnormalities
flattened metatarsal heads Abnormally flat shape of the heads of the metatarsal bones.
ige deficiency An abnormally decreased level of immunoglobulin IgE in blood.
visceromegaly Abnormal increased size of the viscera of the abdomen.
microcytic anemia OMIM mapping confirmed by DO. [SN].
positive regitine blocking test A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.
pigment gallstones Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.
enlargement of parotid gland Increased size of the parotid gland.
periorbital fullness Increase in periorbital soft tissue.
glossoptosis Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
bowed humerus A bending or abnormal curvature of the humerus.
single transverse palmar crease The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
abnormality of the vestibulocochlear nerve Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.
sensory axonal neuropathy An axonal neuropathy of peripheral sensory nerves.
nystagmus-induced head nodding Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.
insomnia
nonimmune hydrops fetalis A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .
slender finger Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
euthyroid multinodular goiter
agenesis of cerebellar vermis Congenital absence of the vermis of cerebellum.
glenoid fossa hypoplasia Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.
patchy sclerosis of finger phalanx Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.
absent phalangeal crease Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).
abnormality of prenatal development or birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
nonspherocytic hemolytic anemia
abnormality of the upper limb An abnormality of the arm.
abnormal male reproductive system physiology An abnormal functionality of the male genital system.
mode of inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
unilateral cleft lip A non-midline cleft of the upper lip on one side only.
square pelvis An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.
fibular overgrowth Relatively increased growth of the fibula compared to that of the tibia.
fractures of the long bones An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna).
peters anomaly A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.
telangiectases in sun-exposed and nonexposed skin
abnormality of binocular vision 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.
diaminoaciduria
stomach cancer A gastrointestinal system cancer that is located_in the stomach.
congenital nuclear cataract A type of congenital cataract in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear.
right aortic arch Aorta descends on right instead of on the left.
paroxysmal atrial fibrillation Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
generalized limb muscle atrophy Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.
progressive vitiligo
metaphyseal sclerosis Abnormally increased density of metaphyseal bone.
bilateral talipes equinovarus Bilateral clubfoot deformity (see HP:0001762).
underdeveloped supraorbital ridges Flatness of the supraorbital portion of the frontal bones.
smooth muscle antibody positivity The presence in serum of antibodies against smooth muscle.
bilateral intracranial calcifications Deposition of calcium salts on both sides of the brain.
abnormality of the nasal septum An abnormality of the nasal septum.
large earlobe Increased volume of the earlobe, that is, abnormally prominent ear lobules.
sutural cataract A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.
tortuosity of conjunctival vessels The presence of an increased number of twists and turns of the conjunctival blood vessels.
broad jaw Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).
elevated urinary homovanillic acid An increased concentration of homovanillic acid in the urine.
short 5th finger Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
y-shaped metacarpals Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.
abnormal placental size A deviation from normal size of the placenta.
patchy changes of bone mineral density 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).
femoral hernia A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.
short 5th toe Underdevelopment (hypoplasia) of the fifth toe.
inverted nipples The presence of nipples that instead of pointing outward are retracted inwards.
neoplasm of the eye A tumor (abnormal growth of tissue) of the eye.
absent pigmentation of chest Lack of skin pigmentation (coloring) of the chest.
gait ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
follicular thyroid carcinoma A thyroid carcinoma that has_material_basis_in follicular cells.
chronic lactic acidosis A chronic form of lactic acidemia.
aplasia of the abdominal wall musculature Absence of the abdominal musculature.
ambiguous genitalia, male Ambiguous genitalia in an individual with XY genetic gender.
lymph node hypoplasia Underdevelopment of the lymph nodes.
adrenal gland dysgenesis Abnormal development of the adrenal gland.
anterolateral radial head dislocation A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.
impaired temperature sensation A reduced ability to discriminate between different temperatures.
pseudohypoparathyroidism OMIM mapping confirmed by DO. [SN].
aplasia/hypoplasia of the proximal phalanges of the hand
focal segmental glomerulosclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli.
abnormal central microtubular pair morphology of respiratory motile cilia A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.
ulcerative colitis A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
numerous pigmented freckles
increased serum bile acid concentration during pregnancy
decreased activity of mitochondrial complex ii A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.
short 4th toe Underdevelopment (hypoplasia) of the fourth toe.
abnormal platelet granules An anomaly of alpha or dense granules or platelet lysosomes.
hypertensive retinopathy
decreased activity of mitochondrial complex iv A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.
radial deviation of finger Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
aplasia/hypoplasia of the skin
pyoderma Pyoderma is a skin infectious disease where the infection is pyogenic causing the formation of pus.
hyperinsulinemic hypoglycemia A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
abnormality of cation homeostasis An abnormality of cation homeostasis.
recurrent vulvovaginal candidiasis Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.
aortic valve stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
premature calcification of mitral annulus Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus . MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual.
cubitus valgus Abnormal positioning in which the elbows are turned out.
abnormality of the thyroid gland An abnormality of the thyroid gland.
abnormality of the bladder An abnormality of the urinary bladder.
neutropenia
eeg with abnormally slow frequencies EEG with abnormally slow frequencies.
mononeuropathy
cortically dense long tubular bones Increased density of the compact bone of long bone.
abnormality of the alveolar ridges Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.
atrophic, patchy alopecia
3-4 toe syndactyly Syndactyly with fusion of toes three and four.
desquamative interstitial pneumonitis
aplasia/hypoplasia of the distal phalanx of the 2nd finger
choroidoretinal degeneration
abnormal subcutaneous fat tissue distribution
aplasia/hypoplasia involving bones of the hand Absence (due to failure to form) or underdevelopment of the bones of the hand.
abnormal electroretinogram Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
abnormality of forebrain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.
aplasia/hypoplasia of the 4th finger A small/hypoplastic or absent/aplastic 4th (ring) finger.
testicular seminoma The presence of a seminoma, an undifferentiated germ cell tumor of the testis.
osteopenia Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value.
abnormal lung lobation Defects in the formation of pulmonary lobules.
abnormality of cerebral artery An anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.
impaired memory b-cell generation Impaired production of memory cells, the B-cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.
aplasia/hypoplasia of toe Absence or hypoplasia of toes.
patchy sclerosis of hand bones
ablepharon Absent eyelids.
chronic axonal neuropathy An abnormality characterized by chronic impairment of the normal functioning of the axons.
abnormal flash visual evoked potentials Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.
aplasia/hypoplasia of the iris Absence or underdevelopment of the iris.
neutral hyperaminoaciduria
hydrometrocolpos Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
myocardial necrosis
single umbilical artery Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
abnormal peripheral nervous system synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.
nasal polyposis Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
madelung deformity An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.
reduced pancreatic beta cells Reduced number of beta cells in the pancreatic islets of Langerhans.
gingival overgrowth
intracellular accumulation of autofluorescent lipopigment storage material The intracellular accumulation of autofluorescent storage material.
posterior vertebral hypoplasia
second metatarsal posteriorly placed
radially deviated wrists
abnormality of the epiphyses of the phalanges of the hand Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
abnormality of the choroid plexus An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.
enlarged kidneys An abnormal increase in the size of the kidney.
abnormality of circulating protein level
abnormal urine phosphate concentration An abnormal phosphate concentration in the urine.
rectoperineal fistula The presence of a fistula between the perineum and the rectum.
aplasia of the middle phalanx of the hand Absence of one or more middle phalanx of a finger.
hypoglycemic encephalopathy Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.
chronic oral candidiasis
gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
abnormality of pancreas morphology
hyperhomocystinemia An increased concentration of homocystine in the blood.
bowing of the legs A bending or abnormal curvature affecting a long bone of the leg.
spotty hyperpigmentation
arthropathy A bone inflammation disease that is located_in joint.
hypoplasia of the lacrimal puncta Underdevelopment of the lacrimal puncta.
acute leukemia A leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity. These lymphocytes (acute lymphocytic leukemia [ALL]) or myeloid cells (acute myelocytic leukemia [AML]) proliferate abnormally, replacing normal marrow tissue and hematopoietic cells and inducing anemia, thrombocytopenia, and granulocytopenia.
alkalosis Depletion of acid or accumulation base in the body fluids.
calf muscle hypertrophy Muscle hypertrophy affecting the calf muscles.
generalized hyperreflexia
limited wrist movement An abnormal limitation of the mobility of the wrist.
hemivertebrae Absence of one half of the vertebral body.
recurrent infections Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection.
abnormality of the seventh cranial nerve Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.
adrenocorticotropic hormone excess Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.
iridescent posterior subcapsular cataract A type of posterior subcapsular cataract characterized by an iridescent color.
pseudobulbar paralysis
diffuse white matter abnormalities This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging.
abnormality of the labia minora An anomaly of the labia minora, the folds of skin between the outer labia.
exocrine pancreatic insufficiency
muscle flaccidity A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.
abnormality of the palmar creases An abnormality of the creases of the skin of palm of hand.
few cafe-au-lait spots The presence of two to five cafe-au-lait macules.
conjunctival whitish salt-like deposits The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.
intermittent hypothermia Episodes of reduced body termperature.
hematological neoplasm
bilateral elbow dislocations
neoplasm of the lung Tumor of the lung.
distal widening of metacarpals Abnormal increase in width of the distal region of the metacarpal bones.
abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.
rib exostoses Multiple circumscribed bony excrescences located in the ribs.
hepatomegaly Abnormally increased size of the liver.
migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
hepatic amyloidosis A form of amyloidosis that affects the liver.
optic nerve coloboma congenital defect of the optic nerve in which some part of the structure is absent
retinal striation
moyamoya phenomenon A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.
motor deterioration Loss of previously present motor (i.e., movement) abilities.
left anterior fascicular block Conduction block in the anterior division of the left bundle branch of the bundle of His.
ph-positive acute lymphoblastic leukemia
biliary tract abnormality
abnormality of cells of the lymphoid lineage An anomaly of cells that originate from the lymphoid lineage restricted progenitor cell.
progressive neurologic deterioration
third degree atrioventricular block
anterior tibial bowing An abnormal anterior bending or curvature of the tibia.
hypertensive crisis
unerupted tooth The presence of one or more embedded tooth germs which have failed to erupt.
abnormal sperm motility An anomaly of the mobility of ejaculated sperm.
abnormality of the aortic arch An anomaly of the arch of aorta.
respiratory acidosis Acidosis because of respiratory retention of carbon dioxide.
orotic acid crystalluria Formation of crystals owing to an increased concentration of orotic acid in the urine (FMA:12274).
deuteranomoly A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.
malaligned carpal bone Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).
pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
absent external genitalia Lack of external genitalia in a male or female individual.
respiratory distress
vertical supranuclear gaze palsy A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
generalized tonic seizures Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes.
iridodonesis Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.
labial hypertrophy
difficulty running Reduced ability to run.
abnormality of upper limb epiphysis morphology
abnormality of the carpal bones An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).
drowsiness Excessive daytime sleepiness.
peripheral vitreoretinal degeneration
varus deformity of humeral neck
lacrimal duct aplasia A congenital defect resulting in absence of the lacrimal duct.
absence of pectoralis minor muscle Aplasia (congenital absence) of the pectoralis minor.
photosensitive tonic-clonic seizures Generalized tonic-clonic seizures that are triggered by flashing or flickering light.
taurodontia Increased volume of dental pulp of permanent molar.
generalized abnormality of skin An abnormality of the skin that is not localized to any one particular region.
aplasia/hypoplasia of the pyramidal tract
fused sternal ossification centers
dumbbell-shaped long bone An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.
frontal bossing Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
anomalous splenoportal venous system
progressive spastic quadriplegia
abnormality of b cells An abnormality of B cells.
frontal upsweep of hair Upward and/or sideward growth of anterior hair.
central scotoma An area of depressed vision located at the point of fixation and that interferes with central vision.
abnormality of cardiac morphology An abnormality of the heart.
narrow iliac wings Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
abnormality of the glial cells An abnormality of the glia cell.
abnormality of the upper arm
cystic hygroma
late-onset distal muscle weakness
abnormality of peripheral nervous system electrophysiology An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.
short diaphyses
prominent scalp veins
underdeveloped tragus Decreased posterolateral protrusion of the tragus.
discoid lupus erythematosus
crossed fused renal ectopia A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.
abnormality of the aryepiglottic fold An abnormality of the aryepiglottic fold.
abnormality of the 4th finger
moderate global developmental delay A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
ekg: t-wave abnormalities An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.
hernia of the abdominal wall The presence of a hernia in the abdominal wall.
thyroiditis Updating to more specific UMLS_CUI from C0029495 to C0040147.
onion bulb formation Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
prominent metopic ridge Vertical bony ridge positioned in the midline of the forehead.
prominent nasolabial fold Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).
increased circulating very-low-density lipoprotein cholesterol An increase in the amount of very-low-density lipoprotein cholesterol in the blood.
urinary urgency Urge incontinence is the strong, sudden need to urinate.
drumstick terminal phalanges Rounding and broadening of the tufts of the distal phalanges.
oval face A face with a rounded and slightly elongated outline.
abnormality of cells of the erythroid lineage An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.
abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.
limb muscle weakness Reduced strength and weakness of the muscles of the arms and legs.
abnormality of prothrombin An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.
recurrent bacterial meningitis An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.
aplasia/hypoplasia involving forearm bones Absence (due to failure to form) or underdevelopment of one or more forearm bones.
abnormal renal corticomedullary differentiation An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.
involuntary jerking movements
buphthalmos OMIM mapping confirmed by DO. [LS].
triangular mouth The presence of a triangular form of the mouth.
abnormality of the phalanges of the 4th finger Abnormality of the phalanges of the 4th (ring) finger.
aseptic necrosis
severe osteoporosis Severe degree of osteoporosis.
scapulohumeral synostosis Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.
anterior beaking of thoracic vertebrae Anterior tongue-like protrusions of thoracic vertebral bodies.
multiple epiphyseal dysplasia An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results_in irregular ossification centers of the located_in hip or located_in knee. The disease has_symptom fatigue, has_symptom joint pain.
waddling gait
exercise-induced hemolysis A form of hemolytic anemia that can be triggered by exertion.
slender forearm bones
pancytopenia
absent nasal bridge
exercise intolerance
almond-shaped palpebral fissure A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.
iliac horns Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.
abnormality of b cell physiology An abnormality of the physiological functioning of B cells.
decreased muscle mass
long neck Increased inferior-superior length of the neck.
midline defect of mandible
supernumerary bones of the axial skeleton
unexplained fevers Episodes of fever for which no infectious cause can be identified.
multiple gastric polyps
congenital neutropenia A form of neutropenia with congenital onset.
vertebral segmentation defect An abnormality related to a defect of vertebral separation during development.
elongated sella turcica
laryngeal web A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.
renal fanconi syndrome An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
hypopigmentation of the skin A reduction of skin color related to a decrease in melanin production and deposition.
atonic seizures Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground .
parathyroid adenoma
epicanthus inversus A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.
increased renal tubular phosphate reabsorption
calcific stippling of infantile cartilaginous skeleton
global brain atrophy Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
hearing impairment A decreased magnitude of the sensory perception of sound.
abnormality of the nervous system An abnormality of the nervous system.
pursed lips An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
acetabular dysplasia The presence of developmental dysplasia of the acetabular part of hip bone.
deviation of the 4th finger Displacement of the 4th finger from its normal position.
macrocytic dyserythropoietic anemia
macular hyperpigmentation Increased amount of pigmentation in the macula lutea.
peripheral retinal atrophy
abnormal humeral ossification An anomaly of the process of formation of bone in the humerus.
flattening of the talar dome
lacunar retinal depigmentation
hypertension
fava bean-induced hemolytic anemia A kind of hemolytic anemia that is induced by the ingestion of fava beans.
abnormality of the musculature of the limbs
hypoplasia of the nasal bone Underdevelopment of the nasal bone.
neoplasm of the tracheobronchial system
multiple cutaneous leiomyomas The presence of multiple leiomyomas of the skin.
postauricular pit Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.
bulbous nose Increased volume and globular shape of the anteroinferior aspect of the nose.
polyhydramnios A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac.
cleft upper lip
generalized bone demineralization A generalized decrease in bone mineral density.
bony paranasal bossing
triangular shaped middle phalanx of the 5th finger Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
gout (feet) Gout affecting the Metatarsophalangeal joint of big toe.
absent thumb Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
hypoplastic pelvis Underdevelopment of the bony pelvis.
reduced beta/alpha synthesis ratio A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.
polyarticular arthritis
abnormality of the subungual region A lesion located beneath a fingernail or toenail.
pharyngeal edema Abnormal accumulation of fluid leading to swelling of the pharynx.
rib fusion Complete or partial merging of adjacent ribs.
leg muscle stiffness
hypoplastic acetabulae Underdeveloped acetabulae.
skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues.
papilloma A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue.
first dorsal interossei muscle weakness
abnormal delayed hypersensitivity skin test Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.
hyperperistalsis
generalized morning stiffness A sensation of stiffness in the joints that occurs following waking up in the morning.
depletion of components of the alternative complement pathway
enlarged thorax
visual auras Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis.
pulmonary embolism An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
hyperhidrosis Abnormal excessive perspiration (sweating).
abnormality of thyroid morphology A structural abnormality of the thyroid gland.
abnormality of the scalp Abnormality of the scalp.
hypodysplasia of the corpus callosum
nongranulomatous uveitis A form of uveitis that is not associated with the formation of granulomas.
caudate atrophy
broad metatarsal Increased side-to-side width of a metatarsal bone.
aplasia/hypoplasia of the sternum
pallidal degeneration Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.
galactorrhea Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.
aplasia/hypoplasia of the distal phalanx of the 3rd finger
narrow naris Slender, slit-like aperture of the nostril.
basilar impression Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.
inflammatory abnormality of the skin
increased serum pyruvate An increased concentration of pyruvate in the blood.
abnormality of the frontal hairline An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.
cone-shaped epiphysis Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
autonomic bladder dysfunction Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.
abnormality of the retinal pigment epithelium An abnormality of the retinal pigment epithelium. Much of the pigmentary change that occurs in diseases of the retina takes place in the RPE (which is pigmented) rather than in the retina (which is transparent). The main purpose of the RPE is to insulate and support the overlying neural retina.
abnormality of the renal collecting system An abnormality of the renal collecting system.
long foot Increased back to front length of the foot.
neoplasm of the small intestine The presence of a neoplasm of the small intestine.
chin with horizontal crease Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.
decreased fertility
abnormality of the pulmonary vasculature
vertebral hyperostosis Excessive growth of the bones of the vertebral bodies.
peripheral axonal neuropathy
ulnar claw An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.
oligosacchariduria Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.
thickened ribs Increased thickness (diameter) of ribs.
hyperchloremia An abnormally increased chloride concentration in the blood.
increased axial globe length Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.
abnormality of the epiphyses of the middle phalanges of the hand
vestibular areflexia Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.
increased hepatic glycogen content An increase in the amount of glycogen stored in hepatocytes compared to normal.
abnormality of the femoral metaphysis An anomaly of the femoral metaphysis.
short metacarpals with rounded proximal ends
vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
abnormality of oral mucosa Abnormality of the oral mucosa.
abnormality of peripheral nerves
bifid nasal tip A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.
increased ige level An abnormally increased level of immunoglobulin E in blood.
abnormality of the acoustic reflex
impaired distal vibration sensation A decrease in the ability to perceive vibration in the distal portions of the limbs.
4-hydroxyphenylacetic aciduria Increased concentration of 4-hydroxyphenylacetic acid in the urine.
abnormal upper motor neuron morphology Any structural anomaly that affects the upper motor neuron.
congenital ptosis A ptosis characterized by eyelid drop present at birth.
abnormal protein n-linked glycosylation An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.
forearm undergrowth Forearm shortening because of underdevelopment of one or more bones of the forearm.
morphological abnormality of the middle ear An abnormality of the morphology or structure of the middle ear.
short 1st metacarpal In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
decreased urinary sulfate Decreased concentration of sulfate in the urine.
increased intramyocellular lipid droplets An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images.
thiamine-responsive megaloblastic anemia A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.
generalized muscle hypertrophy Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.
aplasia/hypoplasia of the optic nerve
abnormality of potassium homeostasis An abnormal concentration of potassium.
diaphragmatic eventration
abnormal echocardiogram An abnormality detectable by sonography of the heart (echocardiography).
vitamin b6 deficiency
onychogryposis of toenails Thickened toenails.
lichenification Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.
abnormality of the lip An abnormality of the lip.
parietal foramina NT MGI.
intermittent jaundice Jaundice that is sometimes present, sometimes not.
abnormality of the pituitary gland An anomaly of the pituitary gland.
tubulointerstitial abnormality An abnormality that involves the tubules and interstitial tissue of the kidney.
emg: myotonic runs Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).
decreased adenosylcobalamin Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.
adenoma sebaceum
giant cell hepatitis
juvenile gastrointestinal polyposis The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.
congenital primary aphakia A developmental defect resulting in congenital absence of the crystalline lens.
abnormal serum ferritin
overgrowth Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
keratoconjunctivitis
ciliary dyskinesia A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.
anasarca An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.
widening of cervical spinal canal
decreased calvarial ossification Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
primary ovarian failure
acute pancreatitis
eczematoid dermatitis
scissor gait A form of gait abnormality characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.
calcific aortic valve stenosis A type of aortic valve stenosis associated with calcification of the aortic heart valve.
abnormal female reproductive system physiology
persistent bleeding after trauma
fibular duplication Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.
frontal hirsutism Excessive amount of hair growth on forehead.
abnormality of the dental pulp An abnormality of the dental pulp.
skin ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
abnormal hypothalamus morphology Any structural anomaly of the hypothalamus.
peritonitis A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
neoplasm of the gastrointestinal tract A tumor (abnormal growth of tissue) of the gastrointestinal tract.
functional motor problems
narrow vertebral interpedicular distance A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
abnormality of cysteine metabolism An abnormality of a cysteine metabolic process.
adenomatous colonic polyposis Presence of multiple adenomatous polyps in the colon.
eyelid apraxia
large placenta Increased size of the placenta.
thickening of the glomerular basement membrane Increase in thickness of the basal lamina of the glomerulus of the kidney.
coxa vara Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
diabetes mellitus
partial fusion of carpals
areflexia Absence of neurologic reflexes such as the knee-jerk reaction.
keratocystic odontogenic tumor A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.
refractory anemia
hamartomatous stomach polyps Polyp-like protrusions which are histologically hamartomas located in the stomach.
epidermoid cyst The presence of one or more cysts of the skin.
nephrogenic rest Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.
urinary glycosaminoglycan excretion Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.
upper motor neuron dysfunction
abnormality of metabolism/homeostasis
paraplegia
ganglioneuroma
arthrogryposis multiplex congenita A muscle tissue disease characterized by congenital joint contractures of hand and feet.
mandibular pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.
limited elbow flexion/extension
papillary renal cell carcinoma A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.
apneic episodes in infancy Recurrent episodes of apnea occurring during infancy.
aplasia/hypoplasia of the ovary Aplasia or developmental hypoplasia of the ovary.
metatarsus adductus The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
diffuse hepatic steatosis A diffuse form of hepatic steatosis.
recurrent pneumonia An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
incoordination
trichorrhexis nodosa Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
peripheral thrombosis
abnormality of the thenar eminence An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.
seborrheic dermatitis A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.
broad distal phalanx of the thumb Increased width of the distal phalanx of thumb.
motor delay A type of Developmental delay characterized by a delay in acquiring motor skills.
emg: neuropathic changes The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
abnormality of ganglioside metabolism Abnormality of ganglioside metabolism.
disproportionate tall stature A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
noncompaction cardiomyopathy A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.
paresis of extensor muscles of the big toe
immunologic hypersensitivity
duplication of distal phalanx of toe A partial or complete duplication of one or more distal phalanx of toe.
focal retinal infarction
abnormality of the middle phalanges of the toes
leydig cell insensitivity to gonadotropin
aplasia/hypoplasia of the phalanges of the 5th finger Aplasia/Hypoplasia of the phalanges of the 5th finger.
middle age onset A type of adult onset with onset of symptoms at the age of 40 to 60 years.
biconcave flattened vertebrae
premature osteoarthritis
broad metacarpals Abnormally broad metacarpal bones.
coxa valga Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
lower limb peromelia Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.
poor speech
metopic synostosis Premature fusion of the metopic suture.
oligodactyly (hands) A developmental defect resulting in the presence of fewer than the normal number of fingers.
abnormal calcification of the carpal bones
pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
flat acetabular roof Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
broad finger Increased width of a non-thumb digit of the hand.
gastric ulcer
open bite Visible space between the dental arches in occlusion.
pes cavus The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
bilateral triphalangeal thumbs A bilateral form of triphalangeal thumb.
malrotation of colon An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.
pancreatic fibrosis
self-mutilation
club-shaped proximal femur An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.
talipes calcaneovalgus Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an up and out appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.
abnormality of humoral immunity An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.
hyperlipidemia An elevated lipid concentration in the blood.
neonatal alloimmune thrombocytopenia Low platelet count associated with maternal platelet-specific alloantibodies.
increased rate of premature chromosome condensation An increased rate of premature chromosome condensation.
aplasia/hypoplasia involving the corticospinal tracts
bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained.
corpus callosum atrophy The presence of atrophy (wasting) of the corpus callosum.
hypoplasia of penis
large hands
abnormality of the sixth cranial nerve An abnormality of the abducens nerve.
decreased fertility in females
precocious puberty in males The onset of puberty before the age of 9 years in boys.
enlarged peripheral nerve Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.
abnormality of calvarial morphology The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.
metaphyseal chondrodysplasia An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
abnormal testosterone level An anomalous concentration of testosterone in the blood.
prominent glabella Forward protrusion of the glabella.
j-shaped sella turcica A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.
abnormality of the hip joint An abnormality of the hip joint.
bird-like facies
short femoral neck An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
abnormality of the humeral metaphyses
partial duplication of the phalanges of the 2nd finger A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
hyperpigmentation in sun-exposed areas
exudative retinal detachment A type of retinal detachment associated with leakage of fluid (exudate) from under the retina.
nodular changes affecting the eyelids 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.
decreased csf homovanillic acid (hva) Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.
abnormal peripheral myelination An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.
cone-rod dystrophy A retinal degeneration that is an inherited progressive disease that causes deterioration of the cone and rod photoreceptor cells and often results in blindness.
oligodontia A tooth disease characterized by failure to develop on or more missing teeth.
congenital bilateral hip dislocation
limb ataxia A kind of ataxia that affects movements of the extremities.
severe platyspondyly
fair hair A lesser degree of hair pigmentation than would otherwise be expected.
diastema Increased space between two adjacent teeth in the same dental arch.
cleft soft palate Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
optic disc hypoplasia Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.
pulmonary artery stenosis An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
non-midline cleft lip Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.
abnormality of urine bicarbonate concentration An abnormality of the concentration of hydrogencarbonate in the urine.
interphalangeal joint contracture of finger Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
high iliac wings Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
low-to-normal blood pressure
limited shoulder movement A limitation of the range of movement of the shoulder joint.
submucous cleft soft palate A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.
rectovaginal fistula The presence of a fistula between the vagina and the rectum.
tapetoretinal degeneration
dysautonomia Dysfunction of the autonomic nervous system.
aplasia/hypoplasia of the tarsal bones Absence or underdevelopment of the tarsal bones.
upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
abnormal speech discrimination A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.
megakaryocytopenia A reduced count of megakaryocytes.
abnormal genital system morphology A structural or developmental anomaly of any of the tissues involved in the genital system.
uveitis
abnormal morphology of bones of the lower limbs
pseudoarthrosis A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).
posterior cortical cataract A cataract that affects the posterior part of the cortex of the lens.
abnormal liver function tests during pregnancy
congenital muscular torticollis A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.
partial duplication of the distal phalanges of the hand A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
neoplasm of the liver
large iliac wings Increased size of the ilium ala.
premature birth following premature rupture of fetal membranes
gastrointestinal arteriovenous malformation
abnormal cortical bone morphology An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
short digit One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.
hyperkeratosis over edematous areas
microspherocytosis The presence of erythrocytes that are sphere-shaped and reduced in size.
respiratory alkalosis Alkalosis due to excess loss of carbon dioxide from the body.
impaired distal tactile sensation A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.
sandal gap A widely spaced gap between the first toe (the great toe) and the second toe.
intestinal obstruction
metaphyseal dappling The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.
hepatic arteriovenous malformation
recurrent infection of the gastrointestinal tract Recurrent infection of the gastrointestinal tract.
abnormal hypothalamus physiology An abnormal functionality of the hypothalamus.
vaginal hernia The presence of a hernia of the vagina.
acetabular spurs The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.
hypoplasia of the thymus Underdevelopment of the thymus.
underfolded helix Underdevelopment of the helix that either affects the entire helix, or is localized.
abnormal trabecular bone morphology Abnormal structure or form of trabecular bone.
abnormality of the genitourinary system The presence of any abnormality of the genitourinary system.
pili torti Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
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.
tractional retinal detachment A type of retinal detachment associated with traction exerted by fibrous or fibrovascular tissue. The fibrous tissue is visible in the vitreous and may be the result of injury, inflammation or neovascularization. If such membranes contract, they pull the sensory retina apart from the underlying retinal pigment epithelium.
aplasia of metacarpal bones Developmental defect associated with absence of one or more metacarpal bones.
acute monocytic leukemia OMIM mapping confirmed by DO. [SN].
chronic sinusitis A chronic form of sinusitis.
bifid sternum The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.
abnormality of the lymphatic vessels
decreased activity of nadph oxidase
abnormality of the fascia An abnormality of fascia.
salt craving An excessive desire to eat salt (sodium chloride) or salty foods.
abnormality of the ear An abnormality of the ear.
increased hematocrit An increase in the volume of packed erythrocytes in a blood specimen.
pulmonary arterial medial hypertrophy Increase in mass of the tunica media of the arteries in the pulmonary circulation.
acute hyperammonemia An increased concentration of ammonia in the blood with sudden onset.
abnormality of femoral epiphysis An anomaly of a growth plate of a femur.
rhizomelia Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
calcaneonavicular fusion Synostosis of the calcaneus with the navicular bone.
congenital lactic acidosis A form of lactic acidemia with congenital onset.
aplasia of the 5th finger Absent 5th (little) finger.
abnormal metacarpal morphology Irregularly shaped metacarpal bones of varying degree.
stomatocytosis The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
recurrent enteroviral infections Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.
polar cataract A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.
abnormality of the radius An abnormality of the radius.
spatulate thumbs Spoon-shaped, broad thumbs.
agitation
hyperactivity
decreased nerve conduction velocity A reduction in the speed at which electrical signals propagate along the axon of a neuron.
genu recurvatum An abnormally increased extension of the knee joint, so that the knee can bend backwards.
abnormality of the liver An abnormality of the liver.
convex nasal ridge Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
bifid tongue Tongue with a median apical indentation or fork.
familial predisposition
parakeratosis Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
hand tremor
lymphangioma
lower limb hyperreflexia
abnormality of upper limb metaphysis An anomaly of one or more metaphyses of the arms.
hypotrichosis A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
generalized amyotrophy Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
anemia due to reduced life span of red cells A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.
delayed tarsal ossification Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
anterior rib cupping Wide, concave anterior rib end.
duplication of the distal phalanx of hand This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
spondylolysis A bone structure disease that involves a defect located_in lumbar vertebral column.
emg: chronic denervation signs Evidence of chronic denervation on electromyography.
frequent falls
abnormality of dental color A developmental defect of tooth color.
neonatal epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.
infertility
relatively short spine
elevated serum creatinine An increased amount of creatinine in the blood.
abnormality of alkaline phosphatase activity An abnormality of alkaline phosphatase activity.
respiratory insufficiency Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide.
male hypogonadism Decreased functionality of the male gonad, i.e., of the testis.
cortical cataract A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
enlarged epiphyses of the phalanges of the hand Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.
severe photosensitivity A severe degree of photosensitivity of the skin.
impaired vibration sensation in the lower limbs A decrease in the ability to perceive vibration in the legs.
hypnopompic hallucinations
hip dysplasia The presence of developmental dysplasia of the hip.
exercise-induced lactic acidemia A form of lactic acidemia that occurs following exercise or exertion.
deep plantar creases The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.
coarctation of aorta Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
abnormality of the epiphyses of the distal phalanx of finger Any anomal of distal epiphysis of phalanx of finger.
abnormality of the proximal phalanges of the hand
impulsivity
abnormal t3/t4 ratio A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.
peripheral retinopathy
neoplasm of the adrenal cortex The presence of a neoplasm of the adrenal cortex.
renal angiomyolipoma
abnormality of the larynx An abnormality of the larynx.
trismus Limitation in the ability to open the mouth.
incomplete partition of the cochlea type ii The cochlea is lacking the entire modiolus and cribriform area, resulting in a cystic appearance. This is accompanied by a large cystic vestibule.
chorioretinal abnormality An abnormality of the choroid and retina.
partial development of the penile shaft
abnormality of circulating hormone level An abnormal concentration of a hormone in the blood.
morphological abnormality of the central nervous system A structural abnormality of the central nervous system.
acral ulceration and osteomyelitis leading to autoamputation of digits Ulceration and osteomyelitis of the distal parts of the limbs associated with necrosis and spontaneous detachment of digits or parts of digits.
absent ulna Missing ulna bone associated with congenital failure of development.
abnormality of the salivary glands
fine, reticulate skin pigmentation
progressive psychomotor deterioration
hydroxyprolinuria An increased concentration of 4-hydroxy-L-proline the urine.
hepatic necrosis The presence of necrosis affecting the liver.
non-hodgkin lymphoma A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
hypoplastic inferior ilia
tubular atrophy The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
finger clinodactyly
underdeveloped nasal alae Thinned, deficient, or excessively arched ala nasi.
thyroid hypoplasia Developmental hypoplasia of the thyroid gland.
abnormality of the epiphysis of the middle phalanx of the 3rd finger
reactive hypoglycemia Hypoglycermia following a meal (or more generally, after intake of glucose).
aplasia/hypoplasia of the ulna Absence or underdevelopment of the ulna.
varicocele
hypoplastic ilia Underdevelopment of the ilium.
alveolar ridge overgrowth Increased width of the alveolar ridges.
everted upper lip vermilion 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.
multiple impacted teeth The presence of multiple impacted teeth.
elevated 8-dehydrocholesterol
aplasia/hypoplasia involving bones of the feet
abnormal glycosylation An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.
small foramen magnum An abnormal narrowing of the foramen magnum.
increased hemoglobin
abnormal iris vasculature
osteopathia striata A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.
neoplasm of the inner ear A tumor (abnormal growth of tissue) of the inner ear.
episodic ataxia A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement.
spotty hypopigmentation
stiff interphalangeal joints Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.
progressive reticulate hyperpigmentation
cranial nerve compression
delayed myelination Delayed myelination.
abnormality of cell physiology An abnormality in a cellular process.
specific antibody deficiency The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.
cardiac fibroma A fibroma of the heart.
parathyroid agenesis Aplasia of the parathyroid gland.
hepatocellular carcinoma A liver carcinoma that has_material_basis_in undifferentiated hepatocytes.
neoplasm of fatty tissue A tumor (abnormal growth of tissue) of adipose tissue.
abnormal pupillary function
ectropion
bronchiolitis obliterans organizing pneumonia An obstructive lung disease that involves granulation tissue plugs within lumens of small airways, sometimes with complete obstruction of small airways and granulation tissue extending into alveolar ducts and alveoli.
barrel-shaped chest A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
abnormality of primary molar morphology An abnormality of morphology of primary molar.
electron transfer flavoprotein-ubiquinone oxidoreductase defect
decreased number of sweat glands The presence of fewer than normal sweat glands.
episodic flaccid weakness Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.
slender proximal phalanx of finger Reduced diameter of the proximal phalanx of finger.
broad phalanges of the hand Increased width of the phalanges of the hand.
3-4 finger cutaneous syndactyly A soft tissue continuity in the A/P axis between fingers 4 and 4.
percussion myotonia A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
bicornuate uterus The presence of a bicornuate uterus.
chronic obstructive pulmonary disease
impotence
impaired fsh and lh secretion
hypoplastic anemia Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.
thenar muscle atrophy
cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
metopic suture patent to nasal root The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.
type 1 and type 2 muscle fiber minicore regions Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.
abnormality of copper homeostasis An abnormal concentration of copper.
diabetes insipidus
punctate vasculitis skin lesions
torsade de pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
exercise-induced myalgia The occurrence of an unusually high amount of muscle pain following exercise.
short sacroiliac notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.
limb dysmetria A type of dysmetria involving the limbs.
varicose veins A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
macrotia Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
aplasia cutis congenita over posterior parietal area
intestinal lymphangiectasia Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.
patellar dislocation The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
abnormality of the sacroiliac joint An anomaly of the sacroiliac joint.
extrapyramidal muscular rigidity Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
dilatation of the renal pelvis The presence of dilatation of the renal pelvis.
triangular epiphysis of the middle phalanx of the 2nd finger
macroreticular retinal dystrophy
night blindness
cleft palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
protruding ear Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
emotional lability
persistence of hemoglobin f Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
abnormality of the diaphragm Any abnormality of the diaphragm.
abnormality of movement An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
giant platelets Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
increased number of teeth The presence of a supernumerary, i.e., extra, tooth or teeth.
congenital corneal dystrophy
pigmented micronodular adrenocortical disease
anal atresia
generalized arterial tortuosity Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.
numerous nevi
pontocerebellar atrophy Atrophy affecting the pons and the cerebellum.
eclabion A turning outward of the lip or lips, that is, eversion of the lips.
hemoglobinuria
valgus hand deformity
diffuse cerebellar atrophy Diffuse unlocalised atrophy affecting the cerebellum.
telangiectasia of the oral mucosa Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.
myelopathy
central hypothyroidism A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.
sudden cardiac death The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
lateral displacement of patellae
low-frequency hearing loss A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).
large artery calcification Calcification, that is, pathological deposition of calcium salts, of the large, conduit arteries (aorta, subclavian, carotid, iliac, renal, axillary, femoral, brachial).
salivary gland neoplasm A tumor (abnormal growth of tissue) of a salivary gland.
obesity OMIM mapping confirmed by DO. [SN].
lacrimal duct stenosis Narrowing of a tear duct (lacrimal duct).
broad femoral neck An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
uterine prolapse The presence of prolapse of the uterus.
abnormality of the lacrimal duct An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.
broad distal phalanges of all fingers Abnormally wide (broad) distal phalanx of finger of all fingers.
focal white matter lesions
abnormality of the proximal tibial epiphysis Any abnormality of the proximal epiphysis of the tibia.
insulin-resistant diabetes mellitus at puberty
metabolic ketoacidosis
narrow nasal ridge Decreased width of the nasal ridge.
right-to-left shunt Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.
hyperammonemia An increased concentration of ammonia in the blood.
abnormality of the aortic valve Any abnormality of the aortic valve.
spinal dysraphism OMIM mapping confirmed by DO. [LS].
loss of eyelashes This term refers to the loss of eyelashes that were previously present.
abnormality of the corticospinal tract Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.
profuse pigmented skin lesions
granular corneal dystrophy
hypoplasia of the primary teeth Developmental hypoplasia of the primary teeth.
aplasia/hypoplasia of the phalanges of the 4th finger
spastic tetraplegia
posterior rib fusion Complete or partial merging of the posterior part of adjacent ribs.
contractures of the large joints
abnormality of the endocrine system
progressive fusion 2nd-5th pip joints
increased urinary cortisol level Abnormally increased concentration of cortisol in the urine.
craniopharyngioma
metacarpal osteolysis
agenesis of maxillary lateral incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.
mitochondrial malic enzyme reduced
situs inversus totalis A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.
arachnodactyly Abnormally long and slender fingers (spider fingers).
hypernatriuria An increased concentration of sodium(1+) in the urine.
abnormality of the tarsal bones An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.
short chordae tendineae of the mitral valve Abnormally short chordae tendineae of the mitral valve.
overfolding of the superior helices A condition in which the superior portion of the helix is folded over to a greater degree than normal.
poikiloderma Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
premature thelarche Premature development of the breasts.
popliteal pterygium A pterygium (or pterygia) occuring in the popliteal region (the back of the knee).
increased red cell osmotic fragility
preaxial polydactyly A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
squared iliac bones A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
joint hyperflexibility
unilateral narrow palpebral fissure A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.
brain atrophy Partial or complete wasting (loss) of brain tissue that was once present.
aplasia/hypoplasia of the biceps Absence or underdevelopment of the biceps muscle.
aplasia/hypoplasia affecting the fundus
abnormal posturing Involuntary flexion or extension of the arms and legs.
obstructive sleep apnea A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
skeletal muscle atrophy acquired diminution of the size of skeletal muscle tissue associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes; occurs with age, immobilization, weightlessness, malnutrition or denervation
alveolar soft part sarcoma A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.
congenital localized absence of skin
epibulbar dermoid An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
velopharyngeal insufficiency Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
progressive encephalopathy
optic neuropathy
plexiform neurofibroma
dilation of lateral ventricles
hydranencephaly
transitional cell carcinoma of the bladder The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
lip hyperpigmentation
chorioretinal dysplasia Abnormal development of the choroid and retina.
lambdoidal craniosynostosis A kind of craniosynostosis affecting the lambdoidal suture.
edema of the dorsum of hands An abnormal accumulation of fluid beneath the skin on the back of the hands.
small anterior fontanelle Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.
autophagic vacuoles The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.
aplasia/hypoplasia affecting the retina
irregular carpal bones Carpal bones with irregular or fragmented margins.
aganglionic megacolon A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
tongue atrophy Wasting of the tongue.
excessive wrinkling of palmar skin
salmonella osteomyelitis
periventricular gray matter heterotopia A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.
ragged-red muscle fibers An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
vertebral arch anomaly A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.
partial abdominal muscle agenesis Failure to form of portions of the abdominal musculature.
laryngeal carcinoma A larynx cancer that has_material_basis_in epithelial cells.
enthesitis
abnormality of the soft palate An abnormality of the soft palate.
abnormality of the adrenal glands Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
osteolysis involving bones of the lower limbs
abnormal natural killer cell physiology A functional anomaly of the natural killer cell.
abnormality of the periorbital region An abnormality of the region situated around the orbit of the eye.
nephrotic syndrome Xref MGI.
calvarial hyperostosis Excessive growth of the calvaria.
abnormality of the respiratory system An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
medullary thyroid carcinoma A follicular thyroid carcinoma that has_material_basis_in parafollicular cells.
superficial thrombophlebitis Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).
complete duplication of thumb phalanx A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism.
duplicated collecting system A duplication of the collecting system of the kidney.
bracket epiphyses
chest pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
wide anterior fontanel Enlargement of the anterior fontanelle with respect to age-dependent norms.
increased blood urea nitrogen (bun) An increased amount of nitrogen in the form of urea in the blood.
intestinal polyposis The presence of multiple polyps in the intestine.
cyclopia Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.
glomus jugular tumor
hyperactive renin-angiotensin system An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.
hypothermia Reduced body temperature due to failed thermoregulation.
anotia Complete absence of any auricular structures.
morphological abnormality of the inner ear A structural anomaly of the internal part of the ear.
renal agenesis
frontolimbic dementia
adrenocortical cytomegaly The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.
uterine rupture
birth length greater than 97th percentile
increased sensitivity to ionizing radiation An abnormally increased sensitivity to the effects of ionizing radiation.
numerous congenital melanocytic nevi
spontaneous pneumothorax Pneumothorax occurring without traumatic injury to the chest or lung.
aplasia/hypoplasia of the hallux Absence or underdevelopment of the big toe.
maternal diabetes
pleuropulmonary blastoma A pulmonary blastoma that derives_from the lung or pleural cavity.
oropharyngeal squamous cell carcinoma A squamous cell carcinoma that originates in the oropharnyx.
sleep-wake cycle disturbance
triangular nasal tip
nail pits Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
laryngeal calcification Calcification (abnormal deposits of calcium) in the laryngeal tissues.
descending aortic aneurysm A bulging, weakened area in the wall of the descending thoracic aorta.
gastrointestinal infarctions
agoraphobia A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
abnormal external genitalia
nevus sebaceous A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.
macroorchidism The presence of abnormally large testes.
tongue fasciculations Fasciculations or fibrillation affecting the tongue muscle.
pear-shaped vertebrae Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.
blepharophimosis
young adult onset Onset of disease at the age of between 16 and 40 years.
hypoplasia of the odontoid process Developmental hypoplasia of the dens of the axis.
abnormality of fontanelles An abnormality of the fontanelle.
aortic dissection Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
abnormality of the anterior segment of the eye An abnormality of the anterior segment of the eye.
abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood.
abnormality of the septum pellucidum An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.
congenital abnormal hair pattern A congenital abnormality of the distribution of hair growth.
calf muscle hypoplasia Underdevelopment of the muscuklature of the calf.
aplasia/hypoplasia of the gallbladder Absence or underdevelopment of the gallbladder.
dislocated wrist An injury of the wrist with displacement of any of the eight carpal bones.
loss of facial expression
widely-spaced incisors
radial deviation of thumb terminal phalanx
toe clinodactyly Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).
abnormality of renal excretion An altered ability of the kidneys to void urine and/or specific substances.
pigmentary retinopathy
posterior polar cataract OMIM mapping confirmed by DO. [SN].
cutaneous syndactyly A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
abnormality of the premaxilla An abnormality of the premaxilla.
basal ganglia gliosis The presence of gliosis in the basal ganglia.
triangular shaped proximal phalanx of the 3rd finger Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
alzheimer disease A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
spontaneous esophageal perforation The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.
talipes cavus equinovarus
facial palsy
aplasia of the fingers Aplasia of one or more fingers.
hypoplastic coccygeal vertebrae
erythroderma An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
microphakia Abnormal smallness of the lens.
cleft vertebral arch A discontinuity of the vertebral arch (FMA:11946), i.e., of the posterior part of a vertebra.
alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
temporal hypotrichosis Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).
palpebral edema Edema in the region of the eyelids.
female hypogonadism Decreased functionality of the female gonads, i.e., of the ovary.
radial deviation of the hand An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).
eeg abnormality Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
hemiclonic seizures
anomalous pulmonary venous return A developmental defect characterized by abnormal connection of or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.
delayed cranial suture closure Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
abnormality of renin-angiotensin system An abnormality of the renin-angiotensin system.
abnormality of pancreas physiology An anomaly of the function of the pancreas.
deviation of the hand or of fingers of the hand Displacement of the hand or of fingers of the hand from their normal position.
diabetic ketoacidosis OMIM mapping confirmed by DO. [SN].
rarefaction of retinal pigmentation
c1-c2 vertebral abnormality Any abnormality of the atlas and the axis.
no social interaction
hyperextensibility at wrists The ability of the wrist joints to move beyond their normal range of motion.
bifid femur 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.
long metacarpals An abnormally increased length of the metacarpal bones.
abdominal symptom
abnormality of the skin An abnormality of the skin.
retinal degeneration
dysostosis multiplex
abnormality of lower lip An abnormality of the lower lip.
duplication of the distal phalanx of the 3rd finger Partial or complete duplication of the distal phalanx of middle finger.
olivopontocerebellar atrophy A spinocerebellar ataxia that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.
sensorineural hearing impairment a form of hearing impairment due to a lesion of the auditory division of cranial nerve VIII or the inner ear
hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone.
uterine leiomyosarcoma The presence of a leiomyosarcoma of the uterus.
abnormality of the pectoral muscle An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.
hand clenching An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.
thick anterior alveolar ridges
hydrocephalus A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
triangular epiphyses of the phalanges of the hand A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.
macular coloboma A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects.
flaring of lower rib cage
horseshoe kidney A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
streak ovary A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
fused labia minora Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.
severe hydrops fetalis
hypochromic anemia
abnormality of descemet's membrane Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.
chronic lymphocytic meningitis
cervical subluxation A partial dislocation of one or more intervertebral joints in the cervical vertebral column.
intestinal pseudo-obstruction
motor tics Movement-based tics affecting discrete muscle groups.
pterygium
malabsorption Impaired ability to absorb one or more nutrients from the intestine.
abnormal nervous system electrophysiology An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.
anxiety (with pheochromocytoma)
abnormality of the sclera An abnormality of the sclera.
increased variability in muscle fiber diameter An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
flat capital femoral epiphysis An abnormal flattening of the proximal epiphysis of the femur.
limited neck range of motion
dyscalculia A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page.
deviation of the 2nd finger Displacement of the 2nd finger from its normal position.
renal duplication A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
submucous cleft lip A cleft of the lip with overlying mucous membrane.
aplasia/hypoplasia involving the pelvis
corneal scarring
pulmonary artery aneurysm An aneurysm (localized balloon-like outward bulging) in the pulmonary artery.
phenotypic abnormality A phenotypic abnormality.
radial deviation of the 3rd finger Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).
fibroma of the breast The presence of a fibroma of the breast.
aplastic pubic bones
dagger-shaped pulp calcifications Dagger-shaped calcifications in the dental pulp.
sirenomelia A developmental defect in which the legs are fused together.
pericardial effusion A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
abnormality of circulating adrenocorticotropin level An abnormal concentration of corticotropin in the blood.
meningocele
narrow sacroiliac notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch.
fasting hypoglycemia
ridged fingernail Longitudinal, linear prominences in the fingernail plate.
leukodystrophy A cerebral degeneration characterized by dysfunction of the white matter of the brain.
abnormality of the radial head
abnormality of saccadic eye movements An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
corneal crystals
restrictive behavior Behavior characterized by an abnormal limitation to few interests and activities.
abnormality of the nasolabial region
pancreatic adenocarcinoma A pancreatic carcinoma that derives_from epithelial cells of glandular origin.
peripheral pulmonary artery stenosis Stenosis of a peripheral branch of the pulmonary artery.
hyperkinesis Motor hyperactivity with excessive movement of muscles of the body as a whole.
intestinal edema Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.
wide mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
increased serum iduronate sulfatase activity An increased rate of iduronate-2-sulfatase activity in the blood.
nevus A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
low-molecular-weight proteinuria Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
recurrent thrombophlebitis Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
triangular shaped middle phalanx of the 3rd finger Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
ataxia
abnormality of somatosensory evoked potentials An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.
limited elbow movement
erythroid hyperplasia Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
long fingers The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
recurrent cerebral hemorrhage Recurrent bleeding into the parenchyma of the brain.
methylmalonic aciduria An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
generalized opacification of the cornea Generalized reduced transparency of the stroma of the cornea.
abnormality of the uvea An abnormality of the uvea, the vascular layer of the eyeball.
nemaline bodies Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.
diffuse demyelination of the cerebral white matter A diffuse loss of myelin from nerve fibers in the central nervous system.
meningitis Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.
abnormality of female external genitalia An abnormality of the female external genitalia.
descemet membrane folds Presence of folds in the Descement membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descement membrane folds are generally a manifestation of inflammation or edema of the cornea.
reduced number of intrahepatic bile ducts The presence of reduced numbers of intrahepatic bile duct than normal.
abnormality of tyrosine metabolism An abnormality of a tyrosine metabolic process.
small epiphyses Reduction in the size or volume of epiphyses.
slender build Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
underdeveloped antitragus Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
long coccyx
lipemia retinalis A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.
peripheral schwannoma The presence of a peripheral schwannoma.
excessive daytime sleepiness
hallux varus Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.
absent radius Missing radius bone associated with congenital failure of development.
constrictive pericarditis
abnormality of extrapyramidal motor function A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
slow saccadic eye movements An abnormally slow velocity of the saccadic eye movements.
gastrointestinal obstruction
myoglobinuria Presence of myoglobin in the urine.
gaze-evoked horizontal nystagmus Horizontal nystagmus made apparent by looking to the right or to the left.
abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system.
abnormality of the musculature of the thorax A disease or lesion affecting the muscles of the thorax.
intractable diarrhea
wide cranial sutures An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
abnormal monocyte count An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
total cataract A Congenital cataract characterized by an opacity of all the fibers of a lens.
pulmonary infiltrates
abnormality of the cardiovascular system Any abnormality of the cardiovascular system.
short columella Reduced distance from the anterior border of the naris to the subnasale.
cartilaginous ossification of larynx Ossification affecting the set of cartilages of larynx.
abnormality of the proximal phalanx of the 5th finger Abnormality of the proximal phalanx of the little (5th) finger.
bladder fistula The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.
abnormality of the rectum An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.
facial diplegia Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
late-onset proximal muscle weakness Lack of strength of the proximal musculature occuring late in the clinical course.
anterior sacral meningocele
periosteal thickening of long tubular bones Thickening of the periosteum of long bone.
uric acid nephrolithiasis
abnormality of the epiphysis of the middle phalanx of the 5th finger Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.
absence of intrinsic factor Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.
increased intraabdominal fat An abnormal increase in the amount of intraabdominal fat tissue.
abnormality of carbohydrate metabolism/homeostasis An abnormality of the metabolism/homeostasis of a carbohydrate.
premature loss of teeth Premature loss of teeth not related to trauma or neglect.
aplasia/hypoplasia of the mandible Absence or underdevelopment of the mandible.
decreased t cell activation
diffuse palmoplantar hyperkeratosis
congestive heart failure A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.
abnormal atrial arrangement Abnormality of the spatial relationship of the atria to other components of the heart.
sclerosis of distal finger phalanx An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
abnormality of the ulna An abnormality of the ulna bone of the forearm.
progressive extrapyramidal movement disorder
abnormality of the supraorbital ridges An anomaly of the supraorbital portion of the frontal bones.
misalignment of incisors Misaligned incisor.
abnormal morphology of ulna
vitamin b12 deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12.
map-dot-fingerprint corneal dystrophy
prolactin excess
bipartite calcaneus A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.
tics
violent behavior
abnormality of the coagulation cascade An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.
unilateral polymicrogyria Excessive number of small gyri (convolutions) on the surface of one side of the brain.
nephroblastomatosis Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.
hypocalcemic seizures
abnormal circulating renin
cerebral arteriovenous malformation
abnormal retinal folds
aplasia/hypoplasia of the epiglottis This term applies if the Epiglottis is absent or hypoplastic.
absent outer dynein arms Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
spontaneous hematomas Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
chromosomal breakage induced by crosslinking agents Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.
hydropic placenta An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.
proximal fibular overgrowth Overgrowth of the proximal part of the fibula.
abnormality of glycosaminoglycan metabolism Abnormality of glycosaminoglycan metabolism.
abnormality of the extrinsic pathway An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.
neoplasm of the skeletal system A tumor (abnormal growth of tissue) of the skeleton.
symphalangism of middle phalanx of 5th finger Fusion of the middle phalanx of the 5th finger with another bone.
breast carcinoma A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
bifid sacrum Presence of a bifid sacral bone.
epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose.
low-frequency sensorineural hearing impairment A form of sensorineural hearing impairment that affects primarily the lower frequencies.
calf muscle pseudohypertrophy Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
absent fifth toenail
prominent coccyx
periodic hypokalemic paresis Episodes of muscle weakness associated with reduced levels of potassium in the blood.
multicentric ossification of proximal femoral epiphyses
pseudoepiphyses of second metacarpal
abnormal pancreas size A deviation from the normal size of the pancreas.
neonatal short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.
autoimmune antibody positivity The presence of an antibody directed against the organism's own cells or tissues.
progressive gait ataxia A type of gait ataxia displaying progression of clinical severity.
abnormal urine sodium concentration An abnormal concentration of sodium in the urine.
abnormality of skeletal morphology An abnormality of the form, structure, or size of the skeletal system.
speech apraxia A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.
cortical thickening of long bone diaphyses Abnormal thickening of the cortex of the diaphyseal region of long bones.
punctate opacification of the cornea Punctate opacification (reduced transparency) of the corneal stroma.
cerebral amyloid angiopathy An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
limitation of joint mobility A reduction in the freedom of movement of one or more joints.
joint hemorrhage
calcific mitral stenosis Abnormal narrowing of the orifice of the mitral valve because of calcification of the mitral valve leaflets.
aplasia/hypoplasia of metatarsal bones Absence or underdevelopment of the metatarsal bones.
laterally curved eyebrow
ulnar bowing Bending of the diaphysis (shaft) of the ulna.
abnormal vestibulo-ocular reflex An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.
intervertebral space narrowing Decreased height of the intervertebral disk.
aplasia/hypoplasia of the distal phalanges of the hand Absence or underdevelopment of the distal phalanges.
lack of insight
doll-like facies A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.
confetti-like hypopigmented macules
upper eyelid coloboma A short discontinuity of the margin of the upper eyelid.
polyarticular chondrocalcinosis
hypocortisolemia A reduced concentration of cortisol in the blood.
knee dislocation
discrete 2 to 5-mm hyper- and hypopigmented macules
restricted neck movement due to contractures
decreased palmar creases Poorly defined or shallow palmar creases.
abnormal vertebral pedicle morphology Abnormal morphology of a vertebral pedical.
agenesis of permanent teeth A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
deeply set eye
decreased numbers of nephrons A reduction in the count of nephrons per kidney.
absent lacrimal punctum No identifiable superior and/or inferior lacrimal punctum.
multicentric ossification of proximal humeral epiphyses
short nail Decreased length of nail.
hyperapobetalipoproteinemia Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.
synostosis involving the 4th metacarpal
hypoplastic left atrium
aplasia/hypoplasia of the uterus Absence or developmental hypoplasia of the uterus.
extraadrenal pheochromocytoma An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
hyporeflexia of upper limbs Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
abnormal tendon morphology An abnormality of the structure or form of the tendons, also often called sinews.
morphological abnormality of the vestibule of the inner ear A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.
benign neoplasm of the central nervous system
absent forearm
accelerated atherosclerosis
cervical cord compression Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.
coxa magna Widening of the femoral head and neck.
abnormal glucose homeostasis Abnormality of glucose homeostasis.
short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
choroidal sclerosis OMIM mapping confirmed by DO. [SN].
abnormality of skin adnexa 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.
intermittent hyperventilation Episodic hyperventilation.
optic atrophy Xref MGI.
abnormality of limb bone
neonatal death Death within the first 28 days of life.
neuroblastoma An autonomic nervous system neoplasm that derives_from immature nerve cells.
decreased methylmalonyl-coa mutase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.
multiple enchondromatosis
abnormally folded helix
intermittent hyperpnea at rest
alopecia universalis
abnormality of the mitral valve An abnormality of the mitral valve.
hodgkin lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
congenital hepatic fibrosis The presence of fibrosis of that part of the liver with congenital onset.
muscular edema
dorsal subluxation of ulna Partial dislocation of the ulna in the dorsal direction.
cerulean cataract Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.
abnormality of orotic acid metabolism An abnormality of the metabolism of orotic acid.
immotile cilia
pseudohypoaldosteronism
abnormality of neutrophil physiology A functional abnormality of neutrophils.
abnormality of glycine metabolism An abnormality of a glycine metabolic process.
genital tract atresia Congenital occlusion of a tube in the genital tract.
abnormality of globe location An abnormality in the placement of the ocular globe (eyeball).
absent facial hair Absence of facial hair.
peripheral dysmyelination Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.
reduced amplitude of b-wave (erg) An abnormal reduction in the amplitude of the b-wave in electroretinography.
abnormality of the scapula Any abnormality of the scapula, also known as the shoulder blade.
dilatation of the bladder The presence of a dilated urinary bladder.
mandibulofacial dysostosis OMIM mapping confirmed by DO. [SN].
microscopic hematuria Microscopic hematuria detected by dipstick or microscopic examination of the urine.
elongated radius Increased length of the radius.
mania A state of abnormally elevated or irritable mood, arousal, and or energy levels.
secundum atrial septal defect A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
rough bone trabeculation
thickened cortex of bones An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.
alveolar cell carcinoma Adenocarcinoma of the Bronchus.
bulbous tips of toes An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.
congenital laryngeal stridor
mesomelic leg shortening Shortening of the middle parts of the leg in relation to the upper and terminal segments.
flattened femoral epiphysis An abnormal flattening of an epiphysis of femur.
metatarsal diaphyseal endosteal sclerosis Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.
abnormality of t cells An abnormality of T cells.
femoral bowing Bowing (abnormal curvature) of the femur.
autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
decreased corneal reflex An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
abnormality of dicarboxylic acid metabolism An abnormality of dicarboxylic acid metabolism.
elevated levels of phytanic acid An abnormal elevation of phytanic acid.
flexion contracture of thumb Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.
cone-shaped epiphyses of phalanges 2 to 5
projectile vomiting Vomiting that ejects the gastric contents with great force.
psychomotor deterioration Loss of previously present mental and motor abilities.
erythroid hypoplasia Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
multiple prenatal fractures The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
abnormality of cells of the granulocytic lineage An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.
reduced subcutaneous adipose tissue The presence of an abnormally reduced amount of subcutaneous adipose tissue.
lipomatous tumor A cell type benign neoplasm that is composed of lipocytes.
cuboid-shaped vertebral bodies
focal seizures Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere.
sclerosis of skull base Increased bone density of the skull base without significant changes in bony contour.
abnormality of the femur Abnormality of the femur.
xerostomia Dryness of the mouth due to salivary gland dysfunction.
communicating hydrocephalus
severe carpal ossification delay
sparse bone trabeculae
sparse eyelashes Decreased density/number of eyelashes.
short fourth metatarsal Short fourth metatarsal bone.
generalized hypotonia Generalized muscular hypotonia (abnormally low muscle tone).
decreased achilles reflex Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
proximal renal tubular acidosis A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
impaired pain sensation Reduced ability to perceive painful stimuli.
abnormality of upper limb joint
joint contracture of the 5th finger Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.
lung segmentation defects
multiple joint contractures
oral leukoplakia A white patch on the oral mucosa that cannot be rubbed off.
abnormality of the pancreatic islet cells An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.
precocious atherosclerosis
prolonged prothrombin time Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation.
abnormal leukocyte count Number of leukocytes per volume of blood beyond normal limits.
subaortic stenosis
hypoplastic ischia Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
optic disc drusen Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
intermittent lactic acidemia An intermittent (discontinuous) form of lactic acidemia.
pugilistic facies Coarse facial features reminiscent of those of a boxer.
abnormality of long bone morphology An abnormality of size or shape of the long bones.
poor wound healing A reduced ability to heal cutaneous wounds.
thickened helices Increased thickness of thehelix of the ear.
chromosomal breakage induced by ionizing radiation Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.
decreased number of cd8+ t cells A decreased count of circulating CD8-positive, alpha-beta regulatory T cells.
chronic constipation Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
abnormality of the lymphatic system
long fibula Disproportionately long fibulae.
multiple rows of eyelashes
mesangial abnormality An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.
absent/shortened outer dynein arms
flared nostrils
refractory macrocytic anemia
persistent left superior vena cava
heinz body anemia Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.
anterior clefting of vertebral bodies Anterior schisis (cleft or cleavage) of vertebral bodies.
short humerus Underdevelopment of the humerus.
atrial cardiomyopathy
facial hemangioma Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.
fever Elevated body temperature due to failed thermoregulation.
pectus excavatum A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance.
decreased serum estradiol
unilateral vestibular schwannoma A unilateral vestibular Schwannoma (acoustic neurinoma).
subcortical dementia A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.
malar anomaly An anomaly of frontal process of maxilla.
bilateral cleft lip and palate Cleft lip and cleft palate affecting both sides of the face.
abnormality of the musculature Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
complement deficiency A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
disproportionate short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
episodic ketoacidosis Intermittent episodes of ketoacidosis.
melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
negative nitroblue tetrazolium (nbt) reduction test In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
edema of the dorsum of feet An abnormal accumulation of fluid beneath the skin on the back of the feet.
neoplasm of the larynx
duplication of bones involving the upper extremities
long proximal phalanx of finger Increased length of the proximal phalanx of finger.
pulmonary artery dilatation An abnormal widening of the diameter of the pulmonary artery.
neuropathic arthropathy
abnormality of the epiphyses of the 3rd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.
midline facial capillary hemangioma
restrictive cardiomyopathy Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration.
abnormality of the patella Abnormality of the patella (knee cap).
shortened outer dynein arms
blood group antigen abnormality An abnormality of an erythrocyte cell surface molecule.
broad hallux phalanx An increase in width in one or more phalanges of the big toe.
hemeralopia A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.
platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates.
widow's peak Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
hypoplastic spinal processes
papillary thyroid carcinoma A thyroid carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer.
long penis Penile length more than 2 SD above the mean for age.
disseminated intravascular coagulation
abnormality of glycolysis An abnormality of glycolysis.
dysplastic corpus callosum Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.
inappropriate sexual behavior
anterior hypopituitarism A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
low-set, posteriorly rotated ears Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
broad middle phalanx of finger Increased width of the middle phalanx of finger.
gonadal tissue inappropriate for external genitalia or chromosomal sex
mesomelic short stature A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
spondylolisthesis A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
recurrent aspiration pneumonia Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.
nephrolithiasis OMIM mapping confirmed by DO. [SN].
hyposegmentation of neutrophil nuclei
maternal hyperphenylalaninemia A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.
compensated hemolytic anemia
abnormality of the optic disc A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.
patellar aplasia Absence of the patella.
metaphyseal dysplasia An osteochondrodysplasia that results_in thinning and the tendency to fracture located_in bone.
developmental stagnation at onset of seizures A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.
hallux valgus Lateral deviation of the great toe (i.e., in the direction of the little toe).
spastic tetraparesis Spastic weakness affecting all four limbs.
hip osteoarthritis
long palm 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.
abnormality of dermal melanosomes 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).
projection of scalp hair onto lateral cheek An tongue-like extension of hair towards the cheeks.
abnormality of leucine metabolism Abnormality of a leucine metabolic process.
sparse scalp hair Decreased number of head hairs per unit area.
abnormality of b cell number A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
periorbital edema Edema affecting the region situated around the orbit of the eye.
severe lactic acidosis A severe form of lactic acidemia.
abnormal tarsal ossification An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
generalized hyperpigmentation
acute hepatic steatosis An acute form of hepatic steatosis.
ventricular extrasystoles Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
deep anterior chamber Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.
thromboembolic stroke A cerebrovascular accident (stroke) that occurs because of thromboembolism.
wide nose Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
aplasia/hypoplasia of the distal phalanx of the thumb
recurrent encephalopathy Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.
proximal placement of thumb Proximal mislocalization of the thumb.
autoimmune thrombocytopenia
urethral fistula The presence of an abnormal connection between the urethra and another organ or the skin.
abnormality of the renal cortex An abnormality of the cortex of the kidney.
abnormality of the ventricular septum An abnormality of the interventricular septum.
increased carrying angle An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.
stillbirth Death of the fetus in utero after at least 20 weeks of gestation.
macrodactyly Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
squamous cell carcinoma A carcinoma that derives_from squamous epithelial cells.
striae distensae Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
ungual fibroma Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate).
reduced factor xiii activity Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.
recurrent e. coli infections Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.
histidinuria A histidine metabolism disease that involves a deficiency of the enzyme histidase.
large hyperpigmented retinal spots
macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
increased anterioposterior diameter of thorax
hypertriglyceridemia An abnormal increase in the level of triglycerides in the blood.
arnold-chiari malformation Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
abnormality of the musculature of the pelvis
clinodactyly of the 5th toe Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
large vessel vasculitis A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.
premature graying of hair Development of gray hair at a younger than normal age.
venous insufficiency A vein disease that is characterized by impaired flow of blood through the veins.
biconcave vertebral bodies Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
bronchitis A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
hyperprostaglandinuria An increased concentration of prostaglandin in the urine.
recurrent mycobacterial infections Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
widened proximal tibial metaphyses
abnormality of the fetal cardiovascular system An abnormality of the fetal circulation system or fetal echocardiogram.
demyelinating motor neuropathy Demyelination of peripheral motor nerves.
aplasia/hypoplasia of the eyebrow Absence or underdevelopment of the eyebrow.
scapuloperoneal amyotrophy Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.
hyperlipoproteinemia An abnormal increase in the level of lipoprotein cholesterol in the blood.
hypoplasia of the pons Underdevelopment of the pons.
type 2 muscle fiber predominance An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).
trapezoidal distal femoral condyles
diffuse swelling of cerebral white matter
deposits immunoreactive to beta-amyloid protein
limited knee flexion
shallow orbits Reduced depth of the orbits associated with prominent-appearing ocular globes.
increased hepatocellular lipid droplets An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.
migraine without aura A migraine that is characterized by migraine headaches that are not accompanied by an aura.
flexion contracture of toe One or more bent (flexed) toe joints that cannot be straightened actively or passively.
autosomal dominant inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
intracranial cystic lesion A cystic lesion originating within the brain.
thin vermilion border Reduced width of the skin of vermilion border region of upper lip (FMA:312645).
cerebral calcification The presence of calcium deposition within brain structures.
aplasia of the ovary Aplasia, that is failure to develop, of the ovary.
sea-blue histiocytosis An abnormality of macrophages, also known as histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content.
abnormality of nitrogen compound homeostasis The presence of an abnormal concentration of nitrogen compounds.
micromelia The presence of abnormally small extremities.
abnormality of the 3rd metacarpal Any abnormality of the third metacarpal bone.
bradykinesia Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
adrenal hyperplasia Enlargement of the adrenal gland.
triangular shaped phalanges of the 2nd finger Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
abnormality of the palate Any abnormality of the palate, i.e., of roof of the mouth).
multiple myeloma A myeloma that is located_in the plasma cells in bone marrow.
anonychia Aplasia of the nail.
mildly elevated creatine phosphokinase
abnormality of the posterior hairline An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not.
mild postnatal growth retardation A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.
foot polydactyly A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
cerebral ischemia
limbic malformations
disproportionate short-limb short stature A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
hypomimic face A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.
ectopic ossification in ligament tissue Formation of abnormal bony tissue within ligament tissue.
decreased number of small peripheral myelinated nerve fibers
oxycephaly Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
chronic otitis media Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
wrist flexion contracture A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
multiple plantar creases
uterine neoplasm A tumor (abnormal growth of tissue) of the uterus.
abnormality of the mandible Any abnormality of the mandible, the bone of the lower jaw.
short middle phalanx of finger Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
chondrosarcoma A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage.
reduced von willebrand factor activity Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.
absence seizures Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures.
cutaneous leiomyosarcoma
abnormality of the sinuses Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.
primary hypothyroidism A type of hypothyroidism that results from a defect in the thyroid gland.
spasticity of pharyngeal muscles
decreased circulating acth level An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age.
abdominal aortic aneurysm An aortic aneurysm that is located_in the abdominal aorta.
abnormality of the pubic hair Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.
elevated urinary dopamine An increased concentration of dopamine in the urine.
porokeratosis Xref MGI.
benign genitourinary tract neoplasm A non-malignant neoplasm of the genitourinary system.
abnormality of proteoglycan metabolism An abnormality of proteoglycan metabolism.
aplasia/hypoplasia of the spleen Absence or underdevelopment of the spleen.
paraparesis Weakness or partial paralysis in the lower limbs.
mixed respiratory and metabolic acidosis
cleft eyelid A short discontinuity of the margin of the lower or upper eyelid.
aplasia/hypoplastia of the eccrine sweat glands Absence or developmental hypoplasia of the eccrine sweat glands.
retinal telangiectasia
tibial torsion Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia.
rhabdomyolysis Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
xanthinuria A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
motor axonal neuropathy Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.
obliteration of the pulp chamber Obliteration of the pulp chambers owing to mineralization of the dental pulp.
megaloblastic bone marrow Abnormal increased number of megaloblasts in the bone marrow.
elevated intracellular cystine An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.
cold-induced hand cramps
ectopia pupillae A malposition of the pupil owing to a developmental defect of the iris.
thin ribs Ribs with a reduced diameter.
epilepsia partialis continua A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals.
subglottic stenosis
hypokalemic metabolic alkalosis
generalized hirsutism Abnormally increased hair growth over much of the entire body.
slow-growing hair Hair whose growth is slower than normal.
clitoromegaly Increased size of the clitoris.
muscle abnormality related to mitochondrial dysfunction
abnormality of the macula An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina.
elevated 7-dehydrocholesterol Elevated 7-dehydrocholesterol levels.
arteriosclerosis of small cerebral arteries Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.
decreased liver function Reduced ability of the liver to perform its functions.
polycystic liver disease
abnormality of the styloid process of ulna
spastic diplegia A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk.
decreased lacrimation Abnormally decreased lacrimation, that is, reduced ability to produce tears.
camptodactyly of toe Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
partial duplication of the distal phalanx of the 3rd finger Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.
medial calcification of large arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.
autistic behavior
mask-like facies A lack of facial expression often with staring eyes and a slightly open mouth.
anterior creases of earlobe Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
septate vagina The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
abnormality of skull ossification An abnormality of the process of ossification of the skull.
overgrowth of external genitalia
small, conical teeth
perineal fistula The presence of a fistula between the bowel and the perineum.
hyposerinemia Reduced concentration of serine in the blood.
shortening of the tibia
synostosis of carpals/tarsals The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.
joint contractures involving the joints of the feet Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.
recurrent aphthous stomatitis disease cluster belonging to disease group other
gonadal dysgenesis, male
anemia of inadequate production A kind of anemia characterized by inadequate production of erythrocytes.
neurodevelopmental delay
neoplasm of the adrenal medulla The presence of a neoplasm of the adrenal medulla.
abnormality of the musculature of the upper arm
gonadotropin deficiency A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).
arachnoid hemangiomatosis The presence of multiple hemangiomas in the arachnoid.
abnormality of vision evoked potentials An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
ventriculomegaly An increase in size of the ventricular system of the brain.
crohn's disease An intestinal disease that involves inflammation located_in intestine.
patchy alopecia
progressive inspiratory stridor
decreased serum progesterone
localized epidermolytic hyperkeratosis
endometriosis
absence of subcutaneous fat Lack of subcutaneous adipose tissue.
lymphoproliferative disorder
csf pleocytosis An increased white blood cell count in the cerebrospinal fluid.
increased serum 1,25-dihydroxyvitamin d3
diastasis recti A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
speckled corneal dystrophy
recurrent fractures The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture).
thickened calvaria The presence of an abnormally thick calvaria.
hemihypotrophy of lower limb Shortening of a leg affecting only one side.
peripheral primitive neuroectodermal neoplasm A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.
unilateral primary pulmonary dysgenesis
breast hypoplasia Underdevelopment of the breast.
chronic calcifying pancreatitis A form of chronic pancreatitis that is characterized by calcification.
neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
cephalocele A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.
dysplastic distal thumb phalanges with a central hole
semilobar holoprosencephaly A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
absent gallbladder A developmental defect in which the gallbladder fails to form.
ambiguous genitalia, female Ambiguous genitalia in an individual with XX genetic gender.
dermal atrophy
postauricular skin tag A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).
abnormality of the labia majora An anomaly of the outer labia.
abnormality of the genital system An abnormality of the genital system.
lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
retrocerebellar cyst
aplasia/hypoplasia of the choroid Absence or underdevelopment of the choroid.
limited hip movement A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.
blotching pigmentation of the skin
abnormality of the humerus An abnormality of the humerus (i.e., upper arm bone).
paraganglioma-related cranial nerve palsy A cranial nerve palsy associated with a paraganglioma of the head or neck.
homocystinuria An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
abnormal spermatogenesis Incomplete maturation or aberrant formation of the male gametes.
hypermagnesiuria An increased concentration of magnesium the urine.
irregular metacarpals Irregular morphology of one or more metacarpal bones.
congenital malformation of the great arteries
motor aphasia Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.
impaired renal uric acid clearance A reduction in the ability of the kidneys to remove uric acid from the serum.
joint dislocation Displacement or malalignment of joints.
peripapillary chorioretinal atrophy Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).
neuroblastic tumors Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors.
polymicrogyria, anterior to posterior gradient
long hallux Increased length of the big toe.
triangular shaped phalanges of the 5th finger Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
narrow foot A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
subependymal cysts
antineutrophil antibody positivity The presence of autoantibodies in the serum that react against neutrophils.
commissural lip pit A depression located at an oral commissure.
cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
frontal cortical atrophy Atrophy of the frontal cortex.
abnormality of lens shape An abnormal shape of the lens.
abnormal size of pituitary gland A deviation from the normal size of the pituitary gland.
facial shape deformation
hypertension associated with pheochromocytoma A type of hypertension associated with pheochromocytoma.
decreased beta-galactosidase activity Abnormally decreased rate of beta-galactosidase activity.
insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
vitamin k deficiency
opacification of the corneal epithelium Lack of transparency of the corneal epithelium.
subcortical cerebral atrophy Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.
hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
midline facial cleft A congenital malformation with a cleft (gap or opening) in the midline of the face.
narrow pelvis Reduced side to side width of the pelvis.
cognitive impairment Abnormality in the process of thought including the ability to process information.
abnormal urine potassium concentration An abnormal concentration of potassium(1+) in the urine.
absent pubic hair Absence of pubic hair.
increased adipose tissue An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).
palmar hyperhidrosis
abnormality of the eye
loss of voice
synostosis involving metatarsal bones
abnormal synaptic transmission at the neuromuscular junction Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.
language impairment
low anterior hairline Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
abnormality of the uvula Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.
abnormality of lateral ventricle A morphological anomal of the lateral ventricle.
demyelinating peripheral neuropathy Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.
small earlobe Reduced volume of the earlobe.
fructose intolerance
small forehead The presence of a forehead that is abnormally small.
tortuous cerebral arteries Excessive bending, twisting, and winding of a cerebral artery.
muscular hypotonia Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
decreased serum complement c9
palpitations (with pheochromocytoma)
decreased serum complement c3
chronic rhinitis due to narrow nasal airway
abnormality of chromosome segregation An abnormality of chromosome segregation.
hypoplasia of the ciliary body Underdevelopment of the ciliary body.
congenital contracture One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.
loss of subcutaneous adipose tissue in limbs Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.
intestinal bleeding Bleeding from the intestines.
prostate cancer A male reproductive organ cancer that is located_in the prostate.
non-caseating epithelioid cell granulomatosis The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).
morbus scheuermann
advanced ossification of carpal bones Ossification of carpal bones at an abnormally early age.
6 metacarpals
hyperconvex fingernails When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.
abnormality of higher mental function Cognitive, psychiatric or memory anomaly.
absence of visual evoked potentials
elevated erythrocyte sedimentation rate
decreased urinary urate Decreased concentration of urate in the urine.
peripheral retinal pigmentation abnormalities
absent glenoid fossa Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
recurrent pancreatitis A recurrent form of pancreatitis.
disproportionate shortening of the tibia
complete heart block with broad rs complexes
decreased number of large peripheral myelinated nerve fibers A reduced number of large myelinated nerve fibers.
recurrent lower respiratory tract infections An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
short philtrum Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
lymphadenopathy Enlargment (swelling) of a lymph node.
saccadic smooth pursuit An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.
mild global developmental delay A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
paraganglioma of head and neck
longitudinal vaginal septum The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.
hypoplasia of the corpus callosum Underdevelopment of the corpus callosum.
reduced protein c activity
recurrent loss of toenails and fingernails Recurrent loss, or shedding, of the nails of the fingers and toes.
subcutaneous nodule Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
episodic hyperhidrosis Intermittent episodes of abnormally increased perspiration.
rotary nystagmus A form of nystagmus in which the eyeball makes rotary motions around the axis.
bilateral cleft palate Nonmidline cleft palate on the left and right sides.
agnosia A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss.
multiple small vertebral fractures
aplasia of the semicircular canal Absence of the semicircular canal.
eruptive xanthomas Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.
sensory ataxic neuropathy
muscle fiber atrophy
mandibular condyle aplasia
inflammatory abnormality of the eye Inflammation of the eye, parts of the eye or the periorbital region.
cerebral vasculitis Inflammation of the blood vessels within the brain.
glutathione synthetase deficiency
double outlet right ventricle OMIM mapping confirmed by DO. [SN].
angiokeratoma
increased density of long bones An abnormal increase in the bone density of the long bones.
abnormality of vitamin k metabolism Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.
myopathic facies A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
recurrent infections in infancy and early childhood Recurrent infections at an early age with improvement in later childhood.
triangular shaped phalanges of the hand
postural instability
hemisacrum (s2-s5) A hemisacral defect involving the sacral vertebrae S2 to S5.
intracerebral periventricular calcifications The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.
horizontal pendular nystagmus Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.
corneal opacity A reduction of corneal clarity.
triangular shaped proximal phalanges of the hand
abnormality of the nasal bone An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.
linear arrays of macular hyperkeratoses in flexural areas
decreased renal tubular phosphate excretion
dynein arm defect of respiratory motile cilia An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.
abnormality of the conjunctiva An abnormality of the conjunctiva.
axenfeld anomaly Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.
camptodactyly of 2nd-5th fingers The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
cerebellar cyst
abnormality of amino acid metabolism Abnormality of an amino acid metabolic process.
pulmonary hypoplasia
myocardial infarction Xref MGI.
bifid thoracic vertebrae
peripheral arteriovenous fistula
impaired pursuit initiation and maintenance
protuberant abdomen A thrusting or bulging out of the abdomen.
eye of the tiger anomaly of globus pallidus The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.
bipolar affective disorder
hyperactive deep tendon reflexes
cerebellar hypoplasia Underdevelopment of the cerebellum.
aplasia/hypoplasia involving bones of the lower limbs Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.
biliary atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
absent retinal pigment epithelium
scapuloperoneal weakness
abnormality of the chin An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.
abnormality of cardiac atrium An abnormality of a cardiac atrium.
midnasal stenosis Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.
widened distal phalanges
marked delay in bone age
peripheral nerve compression
abnormality of pain sensation 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.
cardiac valve calcification Abnormal calcification of a cardiac valve.
crystalline corneal dystrophy
respiratory tract infection An infection of the upper or lower respiratory tract.
argininuria A increased concentration of arginine in the urine.
pancreatitis
thick corpus callosum Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.
status epilepticus
tetraparesis Weakness of all four limbs.
autosomal dominant contiguous gene syndrome
pancreatic squamous cell carcinoma A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.
abnormality of the distal femoral epiphysis Any abnormality of the distal epiphysis of the femur.
cystoid macular degeneration A form of macular degeneration characterized by the presence of multiple cysts in the macula.
small distal femoral epiphysis Reduced size of the Distal epiphysis of femur.
antecubital pterygium Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.