Abnormal morphology of female internal genitalia


Abnormal male internal genitalia morphology


Functional abnormality of male internal genitalia


Abnormality of female external genitalia


Abnormality of reproductive system physiology


Renal juxtaglomerular cell hypertrophy/hyperplasia


Abnormality of the fontanelles or cranial sutures


obsolete Abnormality of the ocular region


obsolete Pulsatile tinnitus (tympanic paraganglioma)


Incomplete partition of the cochlea type II


Abnormal periauricular region morphology


Prelingual sensorineural hearing impairment


Progressive sensorineural hearing impairment


Increased adipose tissue around the neck


obsolete Abnormality of globe location or size


Globe retraction and deviation on abduction


Abnormal amplitude of pattern reversal visual evoked potentials


Decreased light- and dark-adapted electroretinogram amplitude


Palpebral fissure narrowing on adduction


Macrodontia of permanent maxillary central incisor


Impaired ability to form peer relationships


Inflexible adherence to routines or rituals


Abnormal nonverbal communicative behavior


Abnormal peripheral nervous system morphology


Decreased response to growth hormone stimulation test


Increased circulating gonadotropin level


Elevated circulating growth hormone concentration


Neonatal insulin-dependent diabetes mellitus


Abnormality of the hypothalamus-pituitary axis


Increased circulating prolactin concentration


Insulin-resistant diabetes mellitus at puberty


Abnormality of the costochondral junction


Enlargement of the costochondral junction


Elevated imprint of the transverse sinuses


Thinning and bulging of the posterior fossa bones


Abnormal posterior cranial fossa morphology


Posterior fossa cyst at the fourth ventricle


Dermatological manifestations of systemic disorders


Accumulation of melanosomes in melanocytes


obsolete Diaphoresis (with pheochromocytoma)


Skin dimple over apex of long bone angulation


Absent dorsal skin creases over affected joints


obsolete Aplasia/Hypoplasia of the choroid


obsolete Pigmentary retinal degeneration


Ulnar deviation of the hand or of fingers of the hand


Abnormalities of placenta or umbilical cord


Abnormality of prenatal development or birth


Interphalangeal joint contracture of finger


Pointed proximal second through fifth metacarpals


obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits


Abnormal nervous system electrophysiology


EEG with irregular generalized spike and wave complexes


obsolete Hepatic abscesses due to immunodeficiency


Abnormality of the musculature of the hand


Abnormality of the shoulder girdle musculature


Abnormality of the musculature of the lower limbs


Abnormality of the musculature of the thigh


Autosomal dominant somatic cell mutation


Abnormality of the hip-girdle musculature


Abnormality of the musculature of the upper limbs


obsolete Autosomal dominant contiguous gene syndrome


Abnormality of the musculature of the upper arm


Aplasia/Hypoplasia involving the skeletal musculature


Aplasia/Hypoplasia involving the shoulder musculature


Amyotrophy involving the shoulder musculature


Aplasia/Hypoplasia involving the musculature of the upper limbs


Aplasia/Hypoplasia involving the musculature of the upper arm


Abnormal morphology of the pelvis musculature


Aplasia/Hypoplasia of the musculature of the pelvis


Delayed closure of the anterior fontanelle


Congenital fibrosis of extraocular muscles


Widely-spaced maxillary central incisors


Pigmented micronodular adrenocortical disease


obsolete Vocal cord paralysis (caused by tumor impingement)


obsolete Hoarse voice (caused by tumor impingement)


Abnormality of the cardiovascular system


obsolete Tachycardia (with pheochromocytoma)


obsolete Rhythm disturbances associated with pheochromocytoma


obsolete Palpitations (with pheochromocytoma)


Right ventricular outlet tract obstruction


obsolete Increased prevalence of valvular disease


High-frequency sensorineural hearing impairment


obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)


Acroosteolysis of distal phalanges (feet)


Abnormality of blood and blood-forming tissues


Neutropenia in presence of anti-neutropil antibodies


Abnormal glomerular mesangium morphology


Decreased platelet glycoprotein IIb-IIIa


Reduced lymphocyte surface expression of CD43


Morphological central nervous system abnormality


Curved linear dimple below the lower lip


Morphological abnormality of the pyramidal tract


Abnormality of extrapyramidal motor function


Increased neuronal autofluorescent lipopigment


Abnormality of the upper respiratory tract


obsolete Restrictive deficit on pulmonary function testing


Impaired vibration sensation in the lower limbs


Diffuse reticular or finely nodular infiltrations


Melanin pigment aggregation in hair shafts


Abnormality of the autonomic nervous system


Degeneration of the lateral corticospinal tracts


Febrile seizure (within the age range of 3 months to 6 years)


obsolete Paraganglioma-related cranial nerve palsy


Eye of the tiger anomaly of globus pallidus


Dense calcifications in the cerebellar dentate nucleus


Morphological abnormality of the corticospinal tract


Abnormal cerebral white matter morphology


Calcification of the small brain vessels


Abnormal periventricular white matter morphology


Patchy demyelination of subcortical white matter


Parkinsonism with favorable response to dopaminergic medication


obsolete Malformation of the heart and great vessels


Paresis of extensor muscles of the big toe


Venous varicosities of celiac and mesenteric vessels


Right aortic arch with mirror image branching


Hypertension associated with pheochromocytoma


Arteriovenous fistulas of celiac and mesenteric vessels


obsolete Abnormality of calvarial morphology


obsolete Symmetrical, oval parietal bone defects


Absence of bactericidal oxidative respiratory burst in phagocytes


Recurrent Staphylococcus aureus infections


Recurrent Serratia marcescens infections


Respiratory insufficiency due to muscle weakness


obsolete Osteomyelitis due to immunodeficiency


Recurrent lower respiratory tract infections


Recurrent upper respiratory tract infections


Recurrent Burkholderia cepacia infections


obsolete Increased proportion of peripheral CD3+ T cells


Decreased specific anti-polysaccharide antibody level


Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells


Apneic episodes precipitated by illness, fatigue, stress


obsolete Decreased circulating aldosterone level


Elevated circulating thyroid-stimulating hormone concentration


Decreased activity of the pyruvate dehydrogenase complex


Leydig cell insensitivity to gonadotropin


Abnormal delayed hypersensitivity skin test


Absent microvilli on the surface of peripheral blood lymphocytes


Aplasia/Hypoplasia involving the central nervous system


Bowing of limbs due to multiple fractures


Defective DNA repair after ultraviolet radiation damage


Hypoplasia of the capital femoral epiphysis


Abnormal circulating cholesterol concentration


Abnormal circulating amino acid concentration


obsolete Abnormal cardiological findings


Abnormal circulating hormone concentration


Abnormal circulating lipid concentration


Abnormality of the spinocerebellar tracts


Abnormality of peripheral nerve conduction


T-wave inversion in the right precordial leads


obsolete Increased serum 1,25-dihydroxyvitamin D3


Elevated circulating alkaline phosphatase concentration


Abnormal isoelectric focusing of serum transferrin


Elevated urinary delta-aminolevulinic acid


Hypothalamic gonadotropin-releasing hormone deficiency


Elevated circulating parathyroid hormone level


Intracellular accumulation of autofluorescent lipopigment storage material


Curvilinear intracellular accumulation of autofluorescent lipopigment storage material


Fingerprint intracellular accumulation of autofluorescent lipopigment storage material


Decreased methylmalonyl-CoA mutase activity


Deficient excision of UV-induced pyrimidine dimers in DNA


Chromosomal breakage induced by crosslinking agents


Increased cellular sensitivity to UV light


Rectilinear intracellular accumulation of autofluorescent lipopigment storage material


Elevated circulating creatine kinase concentration


Increased phosphoribosylpyrophosphate synthetase level


Gonadal tissue inappropriate for external genitalia or chromosomal sex


Elevated circulating creatinine concentration


Reduced orotidine 5-prime phosphate decarboxylase level


Increased circulating ferritin concentration


Mitochondrial propionyl-CoA carboxylase defect


Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Elevated circulating catecholamine level


obsolete Low gonadotropins (secondary hypogonadism)


Focal necrosis of right ventricular muscle cells


obsolete Abnormal dermatological laboratory findings


Impaired lymphocyte transformation with phytohemagglutinin


Endopolyploidy on chromosome studies of bone marrow


Increased VLDL cholesterol concentration


Enlargement of the proximal femoral epiphysis


Decreased number of peripheral myelinated nerve fibers


Decreased number of large peripheral myelinated nerve fibers


Generalized hypotonia due to defect at the neuromuscular junction


Abnormal synaptic transmission at the neuromuscular junction


EMG: decremental response of compound muscle action potential to repetitive nerve stimulation


Distal sensory impairment of all modalities


Proximal femoral metaphyseal irregularity


Decreased motor nerve conduction velocity


Decreased sensory nerve conduction velocity


Increased rate of premature chromosome condensation


Elevated circulating long chain fatty acid concentration


Low urinary cyclic AMP response to PTH administration


Increased urinary O-linked sialopeptides


Increased extraneuronal autofluorescent lipopigment


obsolete Abnormal cholesterol homeostasis


Paradoxical increased cortisol secretion on dexamethasone suppression test


obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA


obsolete Loss of heterozygosity, multiple chromosomes


Reduced ratio of renal calcium clearance to creatinine clearance


Deficiency or absence of cytochrome b(-245)


Birth length greater than 97th percentile


Disproportionate short-trunk short stature


Parathormone-independent increased renal tubular calcium reabsorption


Elevated circulating glutaric acid concentration


Reduced acetaldehyde dehydrogenase level


Subsarcolemmal accumulations of abnormally shaped mitochondria


obsolete Cellulitis due to immunodeficiency


Increased variability in muscle fiber diameter


Decreased glucosephosphate isomerase level


Foam cells with lamellar inclusion bodies


Premature separation of centromeric heterochromatin


Loss of subcutaneous adipose tissue in limbs


Reduced 4-Hydroxyphenylpyruvate dioxygenase level


Electron transfer flavoprotein-ubiquinone oxidoreductase defect


Reduced dihydropyrimidine dehydrogenase level


Reduced level of N-acetylglucosaminyltransferase II


Vascular granular osmiophilic material deposition


Amyotrophy of the musculature of the pelvis


Centrally nucleated skeletal muscle fibers


Cytochrome C oxidase-negative muscle fibers


Absent epiphysis of the distal phalanx of the 5th finger


Generalized muscular appearance from birth


Genetic anticipation with paternal anticipation bias


Type 1 fibers relatively smaller than type 2 fibers


Percussion-induced rapid rolling muscle contractions


obsolete Externally rotated/abducted legs


Decreased CSF homovanillic acid concentration


Type 1 and type 2 muscle fiber minicore regions


Deposits immunoreactive to beta-amyloid protein


Muscle abnormality related to mitochondrial dysfunction


Soft-tissue ossification around the shoulders


Abnormality of upper limb epiphysis morphology


Delayed upper limb epiphyseal ossification


Wide epiphyseal plates of the upper limbs


Lytic defects in metaphyses of the upper limbs


Normal density transverse bands in metaphyses of the upper limbs


Sclerosis with transverse striations in metaphyses of the upper limbs


Sclerosis of metaphyses of the upper limbs


Cortical diaphyseal irregularity of the upper limbs


Cortical diaphyseal thickening of the upper limbs


Advanced ossification of the humeral epiphysis


Irregular ossification of the humeral epiphyses


Stippled calcification of the humeral epiphyses


Abnormality of the humeral epiphyseal plate


Cortical subperiosteal resorption of humeral metaphyses


Irregular ossification of humeral metaphyses


Sclerotic humeral metaphysis with longitudinal striations


Stippled calcification of humeral metaphysis


Cortical irregularity of humeral diaphysis


Cortical thickening of humeral diaphysis


Ground glass opacity of humeral diaphysis


Periosteal new bone of humeral diaphysis


Abnormality of the joint spaces of the elbow


Irregular articular surfaces of the elbow joints


Abnormality of the epiphyses of the elbow


Sclerotic foci of metaphyses of the elbow


Cortical thickening of the forearm bones


Premature fusion of the radial epiphyseal plates


Irregular ossification of the radial metaphysis


Sclerotic radial metaphysis with longitudinal striations


Abnormal ulnar styloid process morphology


obsolete Bony spicule of ulnar epiphyseal plate


Dysharmonic maturation of the hand bones


obsolete Laterally deviated thumb phalanges


obsolete Laterally deviated terminal thumb phalanx


obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis


obsolete Radially deviated index finger phalanges


obsolete Radially displaced proximal index finger phalanx


obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger


obsolete Flared metaphysis of middle phalanx of index finger


obsolete Radially deviated terminal index finger phalanx


obsolete Duplication of terminal index finger phalanx


obsolete Accessory middle-finger phalanges


obsolete Periosteal new bone of middle finger phalanges


obsolete Radially pointed middle finger phalanges


obsolete Radially pointed proximal middle-finger phalanx


Abnormality of the middle phalanx of the 3rd finger


obsolete Accessory middle phalanx of middle finger


obsolete Periosteal new bone of middle phalanx of middle-finger


obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger


obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger


obsolete Fused epiphysis of terminal phalanx of the middle finger


obsolete Large epiphysis of terminal phalanx of the middle finger


obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger


obsolete Bracket epiphyses of the 4th finger


obsolete Expanded phalanges of the ring finger


obsolete Hypoplastic phalanges of the ring finger


Osteolytic defects of the phalanges of the 4th finger


obsolete Short phalanges of the ring finger


obsolete Wide/broad phalanges of the ring finger


obsolete Expanded proximal phalanx of the ring finger


obsolete Lytic defects of the proximal phalanx of the ring finger


obsolete Short proximal phalanx of the ring finger


Osteolytic defects of the phalanges of the 5th finger


Abnormality of the middle phalanx of the 5th finger


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


Ivory epiphysis of the distal phalanx of the 5th finger


Abnormality of the epiphysis of the middle phalanx of the 5th finger


Abnormality of the distal phalanx of the 5th finger


Subluxation of the proximal interphalangeal joint of the little finger


Bone-in-a-bone appearance of carpal bones


Delayed ossification of the trapezoid bone


Osteoarthritis of the small joints of the hand


Subluxation of the small joints of the hand


Sclerosis of hand bones with transverse striations


Synostosis of second metacarpal-trapezoid


Subluxation of metacarpal phalangeal joints


Abnormal gastrointestinal vascular morphology


Abnormal anterior eye segment morphology


Abnormal posterior eye segment morphology


Abnormal circulating aromatic amino acid concentration


Abnormal circulating sulfur amino acid concentration


Abnormal circulating purine concentration


Abnormal circulating pyrimidine concentration


Abnormal circulating carboxylic acid concentration


obsolete Abnormality of proteoglycan metabolism


Abnormal circulating leucine concentration


Abnormal circulating fatty-acid concentration


Abnormal circulating leptin concentration


Abnormality of enteric ganglion morphology


Abnormal circulating calcium concentration


Abnormal circulating nitrogen compound concentration


Abnormal circulating tryptophan concentration


obsolete Abnormality of glycoprotein metabolism


Increased circulating purine concentration


Decreased circulating purine concentration


Abnormality of glycosaminoglycan metabolism


Abnormality of alkaline phosphatase level


Decreased circulating complement C8 concentration


Exostosis of the external auditory canal


Prolonged brainstem auditory evoked potentials


Aplasia cutis congenita over the scalp vertex


Aplasia cutis congenita over parietal area


Chronic rhinitis due to narrow nasal airway


Large clumps of pigment irregularly distributed along hair shaft


Hump-shaped mound of bone in central and posterior portions of vertebral endplate


Supernumerary vertebral ossification centers


Absent or minimally ossified vertebral bodies


Anterior beaking of lower thoracic vertebrae


Anterior concavity of thoracic vertebrae


Progressive intervertebral space narrowing


Decreased cervical spine flexion due to contractures of posterior cervical muscles


Elevated amniotic fluid alpha-fetoprotein


Abnormal renal collecting system morphology


Glomerular subendothelial electron-dense deposits


Effort-induced polymorphic ventricular tachycardia


obsolete Nodular calcific aortic valve disease


Post-angioplasty coronary artery restenosis


Recurrent infection of the gastrointestinal tract


Refractory anemia with ringed sideroblasts


Ph-positive acute lymphoblastic leukemia


Impaired ADP-induced platelet aggregation


Respiratory failure requiring assisted ventilation


Intermittent episodes of respiratory insufficiency due to muscle weakness


Hypokalemic hypochloremic metabolic alkalosis


Bicarbonate-wasting renal tubular acidosis


Orthostatic hypotension due to autonomic dysfunction


Abnormality of the pulmonary vasculature


Arteriosclerosis of small cerebral arteries


Extracranial internal carotid artery dissection


obsolete Dilatation of the descending aorta


Erlenmeyer flask deformity of the femurs


Slender long bones with narrow diaphyses


Multicentric ossification of proximal humeral epiphyses


Aplasia/Hypoplasia of the capital femoral epiphysis


Femoral bowing present at birth, straightening with time


Osteomyelitis leading to amputation due to slow healing fractures


Proximal humeral metaphyseal irregularity


Cone-shaped epiphyses fused within their metaphyses


Premature birth following premature rupture of fetal membranes


Calcification of the auricular cartilage


obsolete Dilatation of the ascending aorta


obsolete Abnormalities of the peripheral arteries


Posterior scalloping of vertebral bodies


Congenital hypertrophy of left ventricle


obsolete Episodes of ventricular tachycardia


Anomalous origin of right pulmonary artery from ascending aorta


Complete heart block with broad QRS complexes


Complete heart block with narrow QRS complexes


Premature coronary artery atherosclerosis


Proximal finger joint hyperextensibility


Aplasia of the abdominal wall musculature


Hypoplasia of the abdominal wall musculature


Increased anterioposterior diameter of thorax


Unilateral absence of pectoralis major muscle


Abnormal facility in opposing the shoulders


Premature delivery because of cervical insufficiency or membrane fragility


Intimal thickening in the coronary arteries


obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia


obsolete Premature peripheral vascular disease


Postural hypotension with compensatory tachycardia


obsolete Peripheral vascular insufficiency


Anomalous branches of internal carotid artery


obsolete Peripheral artery occlusive disease


Extension of hair growth on temples to lateral eyebrow


Decreased circulating complement factor I concentration


Recurrent streptococcus pneumoniae infections


Decreased circulating complement factor H concentration


obsolete Partial cellular immunodeficiency


Recurrent Haemophilus influenzae infections


Depletion of components of the alternative complement pathway


obsolete Exaggerated cellular immune processes


obsolete Primary T-lymphocyte immune abnormalities


Decreased proportion of CD4-positive helper T cells


obsolete Markedly reduced T cell function


Decreased proportion of CD8-positive T cells


Decreased circulating complement factor B concentration


Recurrent gram-negative bacterial infections


Decreased circulating complement C3 concentration


Dysfunctional alternative complement pathway


Transient hypogammaglobulinemia of infancy


Recurrent infections in infancy and early childhood


Abnormality of the alternative complement pathway


Midline skin dimples over anterior/posterior fontanelles


Impaired neutrophil killing of staphylococci


Chronic disseminated intravascular coagulation


T cell chronic lymphocytic lymphoma/leukemia


Abnormality of the kinin-kallikrein system


Abnormality of bone marrow cell morphology


Absence of renal corticomedullary differentiation


Reduced renal corticomedullary differentiation


Increased renal tubular phosphate reabsorption


Decreased renal tubular phosphate excretion


Impaired renal ltubular reabsorption of chloride


Tubular basement membrane disintegration


Macular hypopigmented whorls, streaks, and patches


Facial telangiectasia in butterfly midface distribution


Large cafe-au-lait macules with irregular margins


Posterior fusion of lumbosacral vertebrae


Decreased anterioposterior diameter of lumbar vertebral bodies


Abnormal vertebral segmentation and fusion


Rudimentary postaxial polydactyly of hands


Tongue-like lumbar vertebral deformities


Dysplastic distal thumb phalanges with a central hole


Partial fusion of proximal row of carpal bones


Increased bone density with cystic changes


Spinal stenosis with reduced interpedicular distance


Avascular necrosis of the capital femoral epiphysis


obsolete Generalized osteoporosis with pathologic fractures


Easily subluxated first metacarpophalangeal joints


Disproportionate shortening of the tibia


Fifth finger distal phalanx clinodactyly


Absent fourth finger distal interphalangeal crease


Cortical thickening of long bone diaphyses


Shortening of all distal phalanges of the toes


obsolete Joint swelling onset late infancy


obsolete Joint dislocations in young adult


Calcific stippling of infantile cartilaginous skeleton


Enlarged sagittal diameter of the cervical canal


Absent ossification of cervical vertebral bodies


Radial deviation of thumb terminal phalanx


obsolete Chronic recurrent multifocal osteomyelitis


Delayed pneumatization of the mastoid process


Rhomboid or triangular shaped 5th finger middle phalanx


Abnormal metacarpal epiphysis morphology


Aplasia/Hypoplasia involving the metacarpal bones


Abnormal epiphysis morphology of the phalanges of the hand


obsolete Abnormal ossification of hand bones


Aplasia/hypoplasia involving bones of the hand


Abnormal renal corticomedullary differentiation


Abnormal respiratory motile cilium morphology


Ventilator dependence with inability to wean


Mixed respiratory and metabolic acidosis


Elevated maternal serum alpha-fetoprotein


Delayed phalangeal epiphyseal ossification


Reduced proximal interphalangeal joint space


Cone-shaped epiphyses of phalanges 2 to 5


obsolete Severe carpal ossification delay


1-5 finger complete cutaneous syndactyly


Shortening of all middle phalanges of the fingers


Expanded phalanges with widened medullary cavities


Shortening of all distal phalanges of the fingers


Premature fusion of phalangeal epiphyses


Shortening of all proximal phalanges of the fingers


Swan neck-like deformities of the fingers


obsolete Finger joint hyperextensibility


Short metacarpals with rounded proximal ends


Soft tissue swelling of interphalangeal joints


Prominent proximal interphalangeal joints


Flattened, squared-off epiphyses of tubular bones


Metacarpal diaphyseal endosteal sclerosis


Proximal phalangeal periosteal thickening


Two carpal ossification centers present at birth


Enlarged proximal interphalangeal joints


Hypermobility of distal interphalangeal joints


Decreased movement range in interphalangeal joints


Hypersegmentation of proximal phalanx of second finger


Metaphyseal cupping of proximal phalanges


Partial-complete absence of 5th phalanges


Thin proximal phalanges with broad epiphyses of the hand


Single interphalangeal crease of fifth finger


Limited mobility of proximal interphalangeal joint


Tapering pointed ends of distal finger phalanges


Osteoarthritis of the first carpometacarpal joint


Expanded metacarpals with widened medullary cavities


Osteoarthritis of the distal interphalangeal joint


Shortening of all middle phalanges of the toes


Swelling of proximal interphalangeal joints


Elevated circulating alpha-fetoprotein concentration


Abnormal phalangeal joint morphology of the hand


Abnormality of the epiphyses of the 2nd finger


Marked delay in eruption of permanent teeth


Prolonged bleeding after dental extraction


Solitary median maxillary central incisor


Buried teeth encased in mucopolysaccharide


Shovel-shaped maxillary central incisors


Peg-like central prominence of distal tibial metaphyses


Proximal femoral metaphyseal abnormality


Disproportionate prominence of the femoral medial condyle


Enlargement of the distal femoral epiphysis


Increased density of long bone diaphyses


Multicentric ossification of proximal femoral epiphyses


Lateral displacement of the femoral head


Periosteal thickening of long tubular bones


Abnormality of the pancreatic islet cells


Abnormal lower-limb metaphysis morphology


Aplasia/hypoplasia involving bones of the lower limbs


Aplasia/Hypoplasia involving bones of the feet


Aplasia/hypoplasia involving bones of the upper limbs


Abnormality of lower limb epiphysis morphology


Aplasia/Hypoplasia involving the carpal bones


Aplasia/hypoplasia involving forearm bones


obsolete Anomaly of the limb diaphyses morphology


Progressive pulmonary function impairment


Abnormal pulmonary interstitial morphology


obsolete Chronic obstructive airway disease from birth


Decreased mitochondrial complex III activity in liver tissue


Malformation of the hepatic ductal plate


Reduced number of intrahepatic bile ducts


Intrahepatic cholestasis with episodic jaundice


Congenital pseudoarthrosis of the clavicle


Irregular ossification at anterior rib ends


Progressive calcification of costochondral cartilage


Decreased number of sternal ossification centers


Thickening of the lateral border of the scapula


Ventricular preexcitation with multiple accessory pathways


Short chordae tendineae of the tricuspid valve


Early progressive calcific cardiac valvular disease


Polymorphic and polytopic ventricular extrasystoles


Abnormal atrioventricular valve morphology


Aplasia/Hypoplasia involving bones of the thorax


Hereditary nonpolyposis colorectal carcinoma


Transitional cell carcinoma of the bladder


White mater abnormalities in the posterior periventricular region


Aplasia/Hypoplasia of the cerebellar vermis


Pallor of dorsal columns of the spinal cord


obsolete Severe neonatal hypotonia in males


Developmental stagnation at onset of seizures


Symmetric spinal nerve root neurofibromas


Sensorimotor polyneuropathy affecting arms more than legs


Symmetrical progressive peripheral demyelination


Inability to walk by childhood/adolescence


Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material


Abnormal aggressive, impulsive or violent behavior


obsolete Slowly progressive spastic quadriparesis


obsolete Distal sensory loss of all modalities


Loss of Purkinje cells in the cerebellar vermis


Attention deficit hyperactivity disorder


Multifocal cerebral white matter abnormalities


Aplasia of the inferior half of the cerebellar vermis


Disorganization of the anterior cerebellar vermis


Decreased amplitude of sensory action potentials


Hypointensity of cerebral white matter on MRI


Prolonged somatosensory evoked potentials


Progressive extrapyramidal movement disorder


Progressive extrapyramidal muscular rigidity


Diffuse demyelination of the cerebral white matter


obsolete Corticospinal tract disease in lower limbs


Focal T2 hyperintense basal ganglia lesion


Bilateral tonic-clonic seizure on awakening


Decreased distal sensory nerve action potential


Spinocerebellar tract disease in lower limbs


Decreased number of small peripheral myelinated nerve fibers


Severe demyelination of the white matter


Facial palsy secondary to cranial hyperostosis


Chaotic rapid conjugate ocular movements


Dysfunction of lateral corticospinal tracts


obsolete White matter neuronal heterotopia


Mixed demyelinating and axonal polyneuropathy


Bilateral tonic-clonic seizure with focal onset


Diffuse swelling of cerebral white matter


Abnormal morphology of the limbic system


Atrophy/Degeneration involving the spinal cord


Aplasia/Hypoplasia of the pyramidal tract


Aplasia/Hypoplasia involving the corticospinal tracts


Atrophy/Degeneration affecting the brainstem


Atrophy/Degeneration affecting the central nervous system


Atrophy/Degeneration affecting the cerebrum


Aplasia/Hypoplasia of the corpus callosum


Atrophy/Degeneration involving the corticospinal tracts


Atrophy/Degeneration involving the caudate nucleus


Abnormality of somatosensory evoked potentials


Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


Excessive skin wrinkling on dorsum of hands and fingers


obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs


Neonatal wrinkled skin of hands and feet


Intermittent generalized erythematous papular rash


obsolete Diffuse palmoplantar keratoderma


Mottled pigmentation of the trunk and proximal extremities


Increased groin pigmentation with raindrop depigmentation


Axillary and groin hyperpigmentation and hypopigmentation


Congenital bullous ichthyosiform erythroderma


Congenital nonbullous ichthyosiform erythroderma


Decreased sweating due to autonomic dysfunction


Linear arrays of macular hyperkeratoses in flexural areas


Discrete 2 to 5-mm hyper- and hypopigmented macules


Focal friction-related palmoplantar hyperkeratosis


Streaks of hyperkeratosis along each finger onto the palm


Mottled pigmentation of photoexposed areas


obsolete Lack of subcutaneous fatty tissue


Yellow subcutaneous tissue covered by thin, scaly skin


Aplasia cutis congenita of midline scalp vertex


Absent pigmentation of the ventral chest


obsolete Palmoplantar keratosis with erythema and scale


Abnormal subcutaneous fat tissue distribution


Congenital symmetrical palmoplantar keratosis


Confetti hypopigmentation pattern of lower leg skin


obsolete Telangiectases in sun-exposed and nonexposed skin


Mediosternal, longitudinal streak of hypopigmentation


Telangiectasia macularis eruptiva perstans


Skin fragility with non-scarring blistering


Aplasia cutis congenita on trunk or limbs


Aplasia cutis congenita over posterior parietal area


Aplasia/Hypoplastia of the eccrine sweat glands


obsolete Congenital palmoplantar keratodermia


Bilateral single transverse palmar creases


Generalized reticulate brown pigmentation


Pigmentation anomalies of sun-exposed skin


Nonarteritic anterior ischemic optic neuropathy


Peripheral tractional retinal detachment


Congenital hypertrophy of retinal pigment epithelium


Eversion of lateral third of lower eyelids


obsolete Decreased retinal pigmentation with dispersion


Abnormality of chorioretinal pigmentation


Impaired pursuit initiation and maintenance


Undetectable light- and dark-adapted electroretinogram


obsolete Nonnuclear polymorphic congenital cataract


obsolete Retinal pigment epithelial atrophy


obsolete Slitlike anterior chamber angles in children


Central retinal vessel vascular tortuosity


obsolete Peripheral retinal cone degeneration


obsolete Butterfly retinal pigment epithelial dystrophy


Patchy atrophy of the retinal pigment epithelium


obsolete Progressive bifocal chorioretinal atrophy


Abnormal distribution of retinal arterioles and venules


obsolete Cataracts develop in second or third decade


obsolete Diffuse retinal cone degeneration


Nonprogressive restrictive external ophthalmoplegia


Amyloid deposition in the vitreous humor


obsolete Temporal displacement of maculae


obsolete Pericentral pigmentary retinopathy


Restrictive partial external ophthalmoplegia


obsolete Age-related macular degeneration


Iridescent posterior subcapsular cataract


obsolete Progressive retinal degeneration


obsolete Nonprogressive congenital retinal dystrophy


Polymorphous posterior corneal dystrophy


obsolete Small anterior lens surface opacities


obsolete Congenital chorioretinal dystrophy


Juvenile posterior subcapsular lenticular opacities


Optic atrophy from cranial nerve compression


obsolete Rarefaction of retinal pigmentation


obsolete Concentric narrowing of visual field


obsolete Central tapetoretinal dystrophy


obsolete Progressive central visual loss


Central fundal arteriolar microaneurysms


obsolete Depigmented lesions of the retinal pigment epithelium


Abnormality of the vasculature of the eye


obsolete Abnormality of the retinal pigment epithelium


Abnormal morphology of the conjunctival vasculature


Aplasia/Hypoplasia affecting the anterior segment of the eye


Low maternal circulating estriol concentration


2nd-5th toe middle phalangeal hypoplasia


Abnormality of the fifth metatarsal bone


Expanded metatarsals with widened medullary cavities


Plantar crease between first and second toes


Metatarsal diaphyseal endosteal sclerosis


Impaired epinephrine-induced platelet aggregation


Elevated serum transaminases during infections


Decreased Arden ratio of electrooculogram


Absence of secondary sex characteristics


Reduced circulating prolactin concentration


Precocious puberty with Sertoli cell tumor


Insulin-dependent but ketosis-resistant diabetes


obsolete Decreased testosterone in males


Elevated circulating follicle stimulating hormone level


Thyroid defect in oxidation and organification of iodide


Increased red cell hemolysis by shear stress


Abnormal iron deposition in mitochondria


Spinal cord posterior columns myelin loss


Decreased activity of mitochondrial complex II


Impaired collagen-induced platelet aggregation


Abnormal light- and dark-adapted electroretinogram


Partial functional complement factor D deficiency


Elevated circulating branched chain amino acid concentration


Decreased activity of mitochondrial complex IV


Recurrent loss of toenails and fingernails


Cuboid-shaped thoracolumbar vertebral bodies


Absent in utero ossification of vertebral bodies


Progressive cervical vertebral spine fusion


Narrow vertebral interpedicular distance


Absent spinous processes of lower thoracic and lumbar vertebrae


Lower thoracic interpediculate narrowness


Narrow anterio-posterior vertebral body diameter


Cervical vertebral bodies with decreased anteroposterior diameter


Moderate sensorineural hearing impairment


Abnormality of the vertebral spinous processes


Aplasia/Hypoplasia involving the vertebral column


Congenital sensorineural hearing impairment


Cleft at the superior portion of the pinna


Low-frequency sensorineural hearing impairment


Slit-like opening of the exterior auditory meatus


Congenital conductive hearing impairment


Postlingual sensorineural hearing impairment


Progressive conductive hearing impairment


Morphological abnormality of the middle ear


Infantile sensorineural hearing impairment


Adult onset sensorineural hearing impairment


Bilateral sensorineural hearing impairment


Pubertal developmental failure in females


Uric acid urolithiasis independent of gout


Aplasia/Hypoplasia of the fallopian tube


Impaired histidine renal tubular absorption


Gonadal dysgenesis with female appearance, male


Female external genitalia in individual with 46,XY karyotype


Self-mutilation of tongue and lips due to involuntary movements


Early ossification of capital femoral epiphyses


Absent ossification of capital femoral epiphysis


Delayed proximal femoral epiphyseal ossification


Stippled calcification proximal humeral epiphyses


Failure to thrive secondary to recurrent infections


Disproportionate short-limb short stature


Childhood-onset short-trunk short stature


Loss of ability to walk in early childhood


Muscle hypertrophy of the lower extremities


Decreased activity of mitochondrial respiratory chain


Loss of truncal subcutaneous adipose tissue


Increased subcutaneous truncal adipose tissue


Loss of gluteal subcutaneous adipose tissue


Progressive loss of facial adipose tissue


Loss of subcutaneous adipose tissue from upper limbs


Weakness of long finger extensor muscles


Abnormal ossification involving the femoral head and neck


Aplasia/Hypoplasia involving the femoral head and neck


Aplasia/hypoplasia involving the skeleton


Aplasia/Hypoplasia involving bones of the skull


Aplasia/Hypoplasia of the frontal sinuses


Aplasia/Hypoplasia involving the sinuses


Aplasia/hypoplasia affecting bones of the axial skeleton


Mixed hypo- and hyperpigmentation of the skin


Abnormality of the musculature of the limbs


Aplasia/Hypoplasia involving the musculature of the extremities


Abnormality of the musculature of the thorax


Synostosis involving bones of the lower limbs


Osteolysis involving bones of the lower limbs


Depletion of mitochondrial DNA in muscle tissue


Duplication of bones involving the upper extremities


Supernumerary bones of the axial skeleton


Enlarged epiphysis of the distal phalanx of the 5th finger


Small epiphysis of the distal phalanx of the 5th finger


Triangular epiphysis of the distal phalanx of the 5th finger


Abnormality of the proximal phalanx of the 5th finger


Abnormality of the epiphyses of the 5th finger


Abnormality of the epiphysis of the proximal phalanx of the 5th finger


Triangular epiphysis of the proximal phalanx of the 5th finger


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


Ivory epiphysis of the proximal phalanx of the 5th finger


Enlarged epiphysis of the proximal phalanx of the 5th finger


Small epiphysis of the proximal phalanx of the 5th finger


Absent epiphysis of the proximal phalanx of the 5th finger


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


obsolete Abnormal form of the 5th finger


Abnormal calcification of the carpal bones


Stippling of the epiphysis of the distal phalanx of the 5th finger


Fragmentation of the epiphysis of the distal phalanx of the 5th finger


Irregular epiphysis of the distal phalanx of the 5th finger


Bullet-shaped middle phalanx of the 5th finger


Osteolytic defects of the middle phalanx of the 5th finger


Abnormality of the epiphyses of the 4th finger


Patchy sclerosis of the middle phalanx of the 5th finger


Proximal/middle symphalangism of 5th finger


Symphalangism of middle phalanx of 5th finger


Triangular shaped middle phalanx of the 5th finger


Contracture of the distal interphalangeal joint of the 5th finger


Contracture of the proximal interphalangeal joint of the 5th finger


Contracture of the metacarpophalangeal joint of the 5th finger


Bracket epiphysis of the distal phalanx of the 5th finger


Pseudoepiphysis of the distal phalanx of the 5th finger


Fragmentation of the metacarpal epiphyses


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


Bracket epiphysis of the proximal phalanx of the 5th finger


Abnormality of the epiphysis of the distal phalanx of the 5th finger


Irregular epiphysis of the proximal phalanx of the 5th finger


Pseudoepiphysis of the proximal phalanx of the 5th finger


Stippling of the epiphysis of the proximal phalanx of the 5th finger


Fragmentation of the epiphysis of the proximal phalanx of the 5th finger


Absent epiphysis of the middle phalanx of the 5th finger


Bracket epiphysis of the middle phalanx of the 5th finger


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


Enlarged epiphysis of the middle phalanx of the 5th finger


Fragmentation of the epiphysis of the middle phalanx of the 5th finger


Irregular epiphysis of the middle phalanx of the 5th finger


Ivory epiphysis of the middle phalanx of the 5th finger


Pseudoepiphysis of the middle phalanx of the 5th finger


Small epiphysis of the middle phalanx of the 5th finger


Stippling of the epiphysis of the middle phalanx of the 5th finger


Triangular epiphysis of the middle phalanx of the 5th finger


Absent epiphysis of the middle phalanx of the 4th finger


Bracket epiphysis of the middle phalanx of the 4th finger


Cone-shaped epiphysis of the middle phalanx of the 4th finger


Enlarged epiphysis of the middle phalanx of the 4th finger


Fragmentation of the epiphysis of the middle phalanx of the 4th finger


Irregular epiphysis of the middle phalanx of the 4th finger


Ivory epiphysis of the middle phalanx of the 4th finger


Pseudoepiphysis of the middle phalanx of the 4th finger


Small epiphysis of the middle phalanx of the 4th finger


Stippling of the epiphysis of the middle phalanx of the 4th finger


Triangular epiphysis of the middle phalanx of the 4th finger


Aplasia of the proximal phalanx of the 5th finger


Short proximal phalanx of the 5th finger


Broad proximal phalanx of the 5th finger


Bullet-shaped proximal phalanx of the 5th finger


Curved proximal phalanx of the 5th finger


Osteolytic defects of the proximal phalanx of the 5th finger


Patchy sclerosis of the proximal phalanx of the 5th finger


Symphalangism affecting the proximal phalanx of the 5th finger


Triangular shaped proximal phalanx of the 5th finger


Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal


Rhomboid or triangular shaped 5th finger proximal phalanx


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


Bullet-shaped distal phalanx of the 5th finger


Osteolytic defects of the distal phalanx of the 5th finger


Patchy sclerosis of the distal phalanx of the 5th finger


Distal/middle symphalangism of 5th finger


Triangular shaped distal phalanx of the 5th finger


Aplasia of the distal phalanx of the 5th finger


Abnormality of the epiphysis of the middle phalanx of the 4th finger


Abnormality of the epiphysis of the proximal phalanx of the 4th finger


Abnormality of the epiphysis of the distal phalanx of the 4th finger


Absent epiphysis of the distal phalanx of the 4th finger


Bracket epiphysis of the distal phalanx of the 4th finger


Cone-shaped epiphysis of the distal phalanx of the 4th finger


Enlarged epiphysis of the distal phalanx of the 4th finger


Fragmentation of the epiphysis of the distal phalanx of the 4th finger


Irregular epiphysis of the distal phalanx of the 4th finger


Ivory epiphysis of the distal phalanx of the 4th finger


Pseudoepiphysis of the distal phalanx of the 4th finger


Small epiphysis of the distal phalanx of the 4th finger


Stippling of the epiphysis of the distal phalanx of the 4th finger


Triangular epiphysis of the distal phalanx of the 4th finger


Absent epiphysis of the proximal phalanx of the 4th finger


Bracket epiphysis of the proximal phalanx of the 4th finger


Cone-shaped epiphysis of the proximal phalanx of the 4th finger


Enlarged epiphysis of the proximal phalanx of the 4th finger


Fragmentation of the epiphysis of the proximal phalanx of the 4th finger


Irregular epiphysis of the proximal phalanx of the 4th finger


Ivory epiphysis of the proximal phalanx of the 4th finger


Pseudoepiphysis of the proximal phalanx of the 4th finger


Small epiphysis of the proximal phalanx of the 4th finger


Stippling of the epiphysis of the proximal phalanx of the 4th finger


Triangular epiphysis of the proximal phalanx of the 4th finger


Contracture of the distal interphalangeal joint of the 4th finger


Contracture of the proximal interphalangeal joint of the 4th finger


Contracture of the metacarpophalangeal joint of the 4th finger


Abnormality of the distal phalanx of the 4th finger


Abnormality of the middle phalanx of the 4th finger


Abnormality of the proximal phalanx of the 4th finger


Curved proximal phalanx of the 4th finger


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


Aplasia of the distal phalanx of the 4th finger


Bullet-shaped middle phalanx of the 4th finger


Osteolytic defects of the middle phalanx of the 4th finger


Aplasia of the proximal phalanx of the 4th finger


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


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


Short proximal phalanx of the 4th finger


Bullet-shaped distal phalanx of the 4th finger


Osteolytic defects of the distal phalanx of the 4th finger


Patchy sclerosis of the distal phalanx of the 4th finger


Distal/middle symphalangism of 4th finger


Triangular shaped distal phalanx of the 4th finger


Patchy sclerosis of the middle phalanx of the 4th finger


Symphalangism of middle phalanx of 4th finger


Triangular shaped middle phalanx of the 4th finger


Broad proximal phalanx of the 4th finger


Bullet-shaped proximal phalanx of the 4th finger


Osteolytic defects of the proximal phalanx of the 4th finger


Patchy sclerosis of the proximal phalanx of the 4th finger


Symphalangism affecting the proximal phalanx of the 4th finger


Triangular shaped proximal phalanx of the 4th finger


Abnormality of the epiphyses of the 3rd finger


Absent epiphysis of the middle phalanx of the 3rd finger


Bracket epiphysis of the middle phalanx of the 3rd finger


Cone-shaped epiphysis of the middle phalanx of the 3rd finger


Enlarged epiphysis of the middle phalanx of the 3rd finger


Fragmentation of the epiphysis of the middle phalanx of the 3rd finger


Irregular epiphysis of the middle phalanx of the 3rd finger


Ivory epiphysis of the middle phalanx of the 3rd finger


Pseudoepiphysis of the middle phalanx of the 3rd finger


Small epiphysis of the middle phalanx of the 3rd finger


Stippling of the epiphysis of the middle phalanx of the 3rd finger


Triangular epiphysis of the middle phalanx of the 3rd finger


Abnormality of the epiphysis of the distal phalanx of the 3rd finger


Abnormality of the epiphysis of the proximal phalanx of the 3rd finger


Abnormality of the epiphysis of the middle phalanx of the 3rd finger


Absent epiphysis of the distal phalanx of the 3rd finger


Bracket epiphysis of the distal phalanx of the 3rd finger


Cone-shaped epiphysis of the distal phalanx of the 3rd finger


Enlarged epiphysis of the distal phalanx of the 3rd finger


Fragmentation of the epiphysis of the distal phalanx of the 3rd finger


Irregular epiphysis of the distal phalanx of the 3rd finger


Ivory epiphysis of the distal phalanx of the 3rd finger


Pseudoepiphysis of the distal phalanx of the 3rd finger


Small epiphysis of the distal phalanx of the 3rd finger


Stippling of the epiphysis of the distal phalanx of the 3rd finger


Triangular epiphysis of the distal phalanx of the 3rd finger


Absent epiphysis of the proximal phalanx of the 3rd finger


Bracket epiphysis of the proximal phalanx of the 3rd finger


Cone-shaped epiphysis of the proximal phalanx of the 3rd finger


Enlarged epiphysis of the proximal phalanx of the 3rd finger


Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger


Irregular epiphysis of the proximal phalanx of the 3rd finger


Ivory epiphysis of the proximal phalanx of the 3rd finger


Pseudoepiphysis of the proximal phalanx of the 3rd finger


Small epiphysis of the proximal phalanx of the 3rd finger


Stippling of the epiphysis of the proximal phalanx of the 3rd finger


Triangular epiphysis of the proximal phalanx of the 3rd finger


Abnormality of the distal phalanx of the 3rd finger


Abnormality of the proximal phalanx of the 3rd finger


Bullet-shaped phalanges of the 5th finger


Aplasia/Hypoplasia of the phalanges of the 5th finger


Triangular shaped phalanges of the 5th finger


Rhomboid or triangular shaped 5th finger distal phalanx


Fragmentation of the epiphyses of the 5th finger


Stippling of the epiphyses of the 5th finger


Fragmentation of the epiphyses of the 4th finger


Stippling of the epiphyses of the 4th finger


Bullet-shaped phalanges of the 4th finger


Triangular shaped phalanges of the 4th finger


Aplasia/Hypoplasia of the phalanges of the 4th finger


Fragmentation of the epiphyses of the 3rd finger


Stippling of the epiphyses of the 3rd finger


Aplasia/Hypoplasia of the distal phalanx of the 3rd finger


Bullet-shaped distal phalanx of the 3rd finger


Osteolytic defects of the distal phalanx of the 3rd finger


Patchy sclerosis of the distal phalanx of the 3rd finger


Distal/middle symphalangism of 3rd finger


Triangular shaped distal phalanx of the 3rd finger


Aplasia of the distal phalanx of the 3rd finger


Bullet-shaped middle phalanx of the 3rd finger


Osteolytic defects of the middle phalanx of the 3rd finger


Patchy sclerosis of the middle phalanx of the 3rd finger


Symphalangism of middle phalanx of 3rd finger


Triangular shaped middle phalanx of the 3rd finger


Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


Bullet-shaped phalanges of the 3rd finger


Osteolytic defects of the phalanges of the 3rd finger


Triangular shaped phalanges of the 3rd finger


Aplasia/Hypoplasia of the phalanges of the 3rd finger


obsolete Aplasia of the phalanges of the 3rd finger


obsolete Hypoplastic/small phalanges of the 3rd finger


Broad proximal phalanx of the 3rd finger


Bullet-shaped proximal phalanx of the 3rd finger


Curved proximal phalanx of the 3rd finger


Osteolytic defects of the proximal phalanx of the 3rd finger


Patchy sclerosis of the proximal phalanx of the 3rd finger


Symphalangism affecting the proximal phalanx of the 3rd finger


Triangular shaped proximal phalanx of the 3rd finger


Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger


Aplasia of the proximal phalanx of the 3rd finger


Short proximal phalanx of the 3rd finger


Contracture of the distal interphalangeal joint of the 3rd finger


Contracture of the metacarpophalangeal joint of the 3rd finger


Contracture of the proximal interphalangeal joint of the 3rd finger


Proximal/middle symphalangism of 4th finger


Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal


Proximal/middle symphalangism of 3rd finger


Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal


Deviation of the hand or of fingers of the hand


Radial deviation of the hand or of fingers of the hand


Fragmentation of the epiphyses of the 2nd finger


Stippling of the epiphyses of the 2nd finger


Abnormality of the epiphysis of the distal phalanx of the 2nd finger


Abnormality of the epiphysis of the middle phalanx of the 2nd finger


Abnormality of the epiphysis of the proximal phalanx of the 2nd finger


Absent epiphysis of the distal phalanx of the 2nd finger


Bracket epiphysis of the distal phalanx of the 2nd finger


Cone-shaped epiphysis of the distal phalanx of the 2nd finger


Enlarged epiphysis of the distal phalanx of the 2nd finger


Fragmentation of the epiphysis of the distal phalanx of the 2nd finger


Irregular epiphysis of the distal phalanx of the 2nd finger


Ivory epiphysis of the distal phalanx of the 2nd finger


Pseudoepiphysis of the distal phalanx of the 2nd finger


Small epiphysis of the distal phalanx of the 2nd finger


Stippling of the epiphysis of the distal phalanx of the 2nd finger


Triangular epiphysis of the distal phalanx of the 2nd finger


Absent epiphysis of the middle phalanx of the 2nd finger


Bracket epiphysis of the middle phalanx of the 2nd finger


Cone-shaped epiphysis of the middle phalanx of the 2nd finger


Enlarged epiphysis of the middle phalanx of the 2nd finger


Fragmentation of the epiphysis of the middle phalanx of the 2nd finger


Irregular epiphysis of the middle phalanx of the 2nd finger


Ivory epiphysis of the middle phalanx of the 2nd finger


Pseudoepiphysis of the middle phalanx of the 2nd finger


Small epiphysis of the middle phalanx of the 2nd finger


Stippling of the epiphysis of the middle phalanx of the 2nd finger


Triangular epiphysis of the middle phalanx of the 2nd finger


Absent epiphysis of the proximal phalanx of the 2nd finger


Bracket epiphysis of the proximal phalanx of the 2nd finger


Cone-shaped epiphysis of the proximal phalanx of the 2nd finger


Enlarged epiphysis of the proximal phalanx of the 2nd finger


Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger


Irregular epiphysis of the proximal phalanx of the 2nd finger


Ivory epiphysis of the proximal phalanx of the 2nd finger


Pseudoepiphysis of the proximal phalanx of the 2nd finger


Small epiphysis of the proximal phalanx of the 2nd finger


Stippling of the epiphysis of the proximal phalanx of the 2nd finger


Triangular epiphysis of the proximal phalanx of the 2nd finger


Contracture of the distal interphalangeal joint of the 2nd finger


Contracture of the metacarpophalangeal joint of the 2nd finger


Contracture of the proximal interphalangeal joint of the 2nd finger


Abnormality of the phalanges of the 2nd finger


Abnormality of the distal phalanx of the 2nd finger


Abnormality of the middle phalanx of the 2nd finger


Abnormality of the proximal phalanx of the 2nd finger


Triangular shaped phalanges of the 2nd finger


Bullet-shaped phalanges of the 2nd finger


Osteolytic defects of the phalanges of the 2nd finger


Aplasia/Hypoplasia of the phalanges of the 2nd finger


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


Bullet-shaped distal phalanx of the 2nd finger


Osteolytic defects of the distal phalanx of the 2nd finger


Patchy sclerosis of the distal phalanx of the 2nd finger


Distal/middle symphalangism of 2nd finger


Triangular shaped distal phalanx of the 2nd finger


Aplasia of the distal phalanx of the 2nd finger


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


Bullet-shaped middle phalanx of the 2nd finger


Osteolytic defects of the middle phalanx of the 2nd finger


Patchy sclerosis of the middle phalanx of the 2nd finger


Symphalangism of middle phalanx of 2nd finger


Triangular shaped middle phalanx of the 2nd finger


Proximal/middle symphalangism of the 2nd finger


Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger


Broad proximal phalanx of the 2nd finger


Bullet-shaped proximal phalanx of the 2nd finger


Curved proximal phalanx of the 2nd finger


Osteolytic defects of the proximal phalanx of the 2nd finger


Patchy sclerosis of the proximal phalanx of the 2nd finger


Symphalangism affecting the proximal phalanx of the 2nd finger


Triangular shaped proximal phalanx of the 2nd finger


Abnormality of the vestibulocochlear nerve


Aplasia of the proximal phalanx of the 2nd finger


Short proximal phalanx of the 2nd finger


Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal


Complete duplication of distal phalanx of the thumb


Complete duplication of proximal phalanx of the thumb


Duplication of the distal phalanx of the thumb


Duplication of the proximal phalanx of the thumb


Complete duplication of the first metacarpal


Abnormality of the distal phalanx of the thumb


Abnormality of the proximal phalanx of the thumb


Metacarpophalangeal thumb joint contracture


Aplasia/Hypoplasia of the proximal phalanx of the thumb


Bullet-shaped proximal phalanx of the thumb


Osteolytic defect of the proximal phalanx of the thumb


Patchy sclerosis of the proximal phalanx of the thumb


Triangular shaped proximal phalanx of the thumb


Synostosis of the proximal phalanx of the thumb with the 1st metacarpal


Aplasia/Hypoplasia of the distal phalanx of the thumb


Bullet-shaped distal phalanx of the thumb


Osteolytic defect of the distal phalanx of the thumb


Patchy sclerosis of the distal phalanx of the thumb


Triangular shaped distal phalanx of the thumb


Aplasia of the distal phalanx of the thumb


Aplasia/Hypoplasia of the phalanges of the thumb


Abnormality of the epiphysis of the distal phalanx of the thumb


Abnormality of the epiphysis of the proximal phalanx of the thumb


Absent epiphysis of the proximal phalanx of the thumb


Bracket epiphysis of the proximal phalanx of the thumb


Cone-shaped epiphysis of the proximal phalanx of the thumb


Enlarged epiphysis of the proximal phalanx of the thumb


Fragmentation of the epiphysis of the proximal phalanx of the thumb


Irregular epiphysis of the proximal phalanx of the thumb


Ivory epiphysis of the proximal phalanx of the thumb


Pseudoepiphysis of the proximal phalanx of the thumb


Small epiphysis of the proximal phalanx of the thumb


Stippling of the epiphysis of the proximal phalanx of the thumb


Triangular epiphysis of the proximal phalanx of the thumb


Absent epiphysis of the distal phalanx of the thumb


Bracket epiphysis of the distal phalanx of the thumb


Cone-shaped epiphysis of the distal phalanx of the thumb


Enlarged epiphysis of the distal phalanx of the thumb


Fragmentation of the epiphysis of the distal phalanx of the thumb


Irregular epiphysis of the distal phalanx of the thumb


Ivory epiphysis of the distal phalanx of the thumb


Pseudoepiphysis of the distal phalanx of the thumb


Small epiphysis of the distal phalanx of the thumb


Stippling of the epiphysis of the distal phalanx of the thumb


Triangular epiphysis of the distal phalanx of the thumb


Contracture of the distal interphalangeal joint of the fingers


Pyramidal skinfold extending from the base to the top of the nails


Aplasia/Hypoplasia of the phalanges of the hand


Osteolytic defects of the phalanges of the hand


Symphalangism affecting the phalanges of the hand


Aplasia/Hypoplasia of the musculature of the thigh


Abnormal upper limb metaphysis morphology


Aplasia involving bones of the lower limbs


Aplasia involving bones of the upper limbs


Aplasia involving bones of the extremities


Abnormal distal phalanx morphology of finger


Abnormal middle phalanx morphology of the hand


Abnormal proximal phalanx morphology of the hand


Aplasia/Hypoplasia of the distal phalanges of the hand


Bullet-shaped distal phalanges of the hand


Osteolytic defects of the distal phalanges of the hand


Patchy sclerosis of distal phalanx of finger


Aplasia/Hypoplasia of the middle phalanges of the hand


Bullet-shaped middle phalanges of the hand


Osteolytic defects of the middle phalanges of the hand


Patchy sclerosis of middle phalanx of finger


Symphalangism of middle phalanx of finger


Triangular shaped middle phalanges of the hand


Aplasia/Hypoplasia of the proximal phalanges of the hand


Bullet-shaped proximal phalanges of the hand


Osteolytic defects of the proximal phalanges of the hand


Patchy sclerosis of proximal phalanx of finger


Symphalangism affecting the proximal phalanges of the hand


Triangular shaped proximal phalanges of the hand


Triangular shaped distal phalanges of the hand


Cerebellar ataxia associated with quadrupedal gait


Aplasia of the distal phalanges of the hand


Duplication of the distal phalanx of hand


Duplication of the proximal phalanx of the 2nd finger


Duplication of the distal phalanx of the 2nd finger


Duplication of the middle phalanx of the 2nd finger


Complete duplication of the distal phalanx of the 2nd finger


Partial duplication of the distal phalanx of the 2nd finger


Complete duplication of the middle phalanx of the 2nd finger


Partial duplication of the middle phalanx of the 2nd finger


Complete duplication of the proximal phalanx of the 2nd finger


Partial duplication of the proximal phalanx of the 2nd finger


Partial duplication of the phalanges of the 2nd finger


Complete duplication of the phalanges of the 2nd finger


Complete duplication of the phalanges of the 3rd finger


Partial duplication of the phalanges of the 3rd finger


Duplication of the distal phalanx of the 3rd finger


Duplication of the middle phalanx of the 3rd finger


Duplication of the proximal phalanx of the 3rd finger


Complete duplication of the distal phalanx of the 3rd finger


Complete duplication of the middle phalanx of the 3rd finger


Complete duplication of the proximal phalanx of the 3rd finger


Partial duplication of the distal phalanx of the 3rd finger


Partial duplication of the middle phalanx of the 3rd finger


Partial duplication of the proximal phalanx of the 3rd finger


Complete duplication of the phalanges of the 4th finger


Partial duplication of the phalanges of the 4th finger


Duplication of the distal phalanx of the 4th finger


Duplication of the middle phalanx of the 4th finger


Duplication of the proximal phalanx of the 4th finger


Complete duplication of the distal phalanx of the 4th finger


Complete duplication of the middle phalanx of the 4th finger


Complete duplication of the proximal phalanx of the 4th finger


Partial duplication of the distal phalanx of the 4th finger


Partial duplication of the middle phalanx of the 4th finger


Partial duplication of the proximal phalanx of the 4th finger


Complete duplication of the phalanges of the 5th finger


Partial duplication of the phalanges of the 5th finger


Duplication of the distal phalanx of the 5th finger


Duplication of the middle phalanx of the 5th finger


Duplication of the proximal phalanx of the 5th finger


Complete duplication of the distal phalanx of the 5th finger


Complete duplication of the middle phalanx of the 5th finger


Complete duplication of the proximal phalanx of the 5th finger


Partial duplication of the distal phalanx of the 5th finger


Partial duplication of the middle phalanx of the 5th finger


Partial duplication of the proximal phalanx of the 5th finger


Partial duplication of the phalanx of hand


Complete duplication of the proximal phalanges of the hand


Complete duplication of the distal phalanges of the hand


Complete duplication of the middle phalanges of the hand


Partial duplication of the proximal phalanges of the hand


Partial duplication of the distal phalanges of the hand


Partial duplication of the middle phalanges of the hand


Duplication of the proximal phalanx of hand


Duplication of the middle phalanx of hand


Abnormality of the epiphysis of the 1st metacarpal


Cone-shaped epiphysis of the 1st metacarpal


Enlarged epiphysis of the 1st metacarpal


Fragmentation of the epiphysis of the 1st metacarpal


Irregular epiphysis of the 1st metacarpal


Epiphyseal stippling of the first metacarpal


Triangular epiphysis of the 1st metacarpal


Aplasia/Hypoplasia of the 1st metacarpal


Osteolytic defects of the 1st metacarpal


Aplasia/Hypoplasia of the 2nd metacarpal


Aplasia/Hypoplasia of the 3rd metacarpal


Aplasia/Hypoplasia of the 4th metacarpal


Aplasia/Hypoplasia of the 5th metacarpal


Abnormal morphology of the proximal phalanx of the hallux


Abnormality of the distal phalanx of the hallux


Abnormality of the first metatarsal bone


Abnormality of the epiphyses of the hallux


Aplasia/Hypoplasia of the phalanges of the hallux


Osteolytic defects of the phalanges of the hallux


Symphalangism affecting the phalanges of the hallux


Triangular shaped phalanges of the hallux


Aplasia/hypoplasia of the 1st metatarsal


Osteolytic defects of the 1st metatarsal


Aplasia/Hypoplasia of the distal phalanx of the hallux


Bullet-shaped distal phalanx of the hallux


Osteolytic defects of the distal phalanx of the hallux


Patchy sclerosis of the distal phalanx of the hallux


Symphalangism affecting the distal phalanx of the hallux


Triangular shaped distal phalanx of the hallux


Duplication of the distal phalanx of the hallux


Aplasia/Hypoplasia of the proximal phalanx of the hallux


Bullet-shaped proximal phalanx of the hallux


Osteolytic defects of the proximal phalanx of the hallux


Patchy sclerosis of the proximal phalanx of the hallux


Symphalangism affecting the proximal phalanx of the hallux


Triangular shaped proximal phalanx of the hallux


Duplication of the proximal phalanx of the hallux


Complete duplication of the proximal phalanx of the hallux


Partial duplication of the proximal phalanx of the hallux


Complete duplication of the distal phalanx of the hallux


Partial duplication of the distal phalanx of the hallux


Complete duplication of the 1st metatarsal


Partial duplication of the 1st metatarsal


Partial duplication of the phalanges of the hallux


Aplasia of the distal phalanx of the hallux


Aplasia of the proximal phalanx of the hallux


Fragmentation of the epiphyses of the hallux


Stippling of the epiphyses of the hallux


Abnormality of the epiphysis of the distal phalanx of the hallux


Abnormality of the epiphysis of the 1st metatarsal


Abnormality of the epiphysis of the proximal phalanx of the hallux


Absent epiphysis of the proximal phalanx of the hallux


Bracket epiphysis of the proximal phalanx of the hallux


Cone-shaped epiphysis of the proximal phalanx of the hallux


Enlarged epiphysis of the proximal phalanx of the hallux


Fragmentation of the epiphysis of the proximal phalanx of the hallux


Irregular epiphysis of the proximal phalanx of the hallux


Ivory epiphysis of the proximal phalanx of the hallux


Pseudoepiphysis of the proximal phalanx of the hallux


Small epiphysis of the proximal phalanx of the hallux


Stippling of the epiphysis of the proximal phalanx of the hallux


Triangular epiphysis of the proximal phalanx of the hallux


Absent epiphysis of the distal phalanx of the hallux


Bracket epiphysis of the distal phalanx of the hallux


Cone-shaped epiphysis of the distal phalanx of the hallux


Enlarged epiphysis of the distal phalanx of the hallux


Fragmentation of the epiphysis of the distal phalanx of the hallux


Irregular epiphysis of the distal phalanx of the hallux


Ivory epiphysis of the distal phalanx of the hallux


Pseudoepiphysis of the distal phalanx of the hallux


Small epiphysis of the distal phalanx of the hallux


Stippling of the epiphysis of the distal phalanx of the hallux


Triangular epiphysis of the distal phalanx of the hallux


Cone-shaped epiphysis of the 1st metatarsal


Enlarged epiphysis of the 1st metatarsal


Fragmentation of the epiphysis of the 1st metatarsal


Irregular epiphysis of the 1st metatarsal


Stippling of the epiphysis of the 1st metatarsal


Triangular epiphysis of the 1st metatarsal


Fragmentation of the epiphyses of the toes


Aplasia/Hypoplasia of the phalanges of the toes


Osteolytic defects of the phalanges of the toes


Symphalangism affecting the phalanges of the toes


Abnormality of the distal phalanges of the toes


Abnormality of the middle phalanges of the toes


Aplasia/Hypoplasia of the distal phalanges of the toes


Osteolytic defects of the distal phalanges of the toes


Symphalangism affecting the distal phalanges of the toes


Triangular shaped distal phalanges of the toes


Aplasia/Hypoplasia of the middle phalanges of the toes


Osteolytic defects of the middle phalanges of the toes


Symphalangism affecting the middle phalanges of the toes


Triangular shaped middle phalanges of the toes


Aplasia/hypoplasia of proximal toe phalanx


Osteolytic defect of the proximal toe phalanx


Patchy sclerosis of proximal toe phalanx


Symphalangism affecting the proximal phalanges of the toes


Triangular shaped proximal phalanges of the toes


Contracture of the tarsometatarsal joint of the hallux


Contracture of the interphalangeal joint of the hallux


Contractures of the metatarsophalangeal joint of the hallux


Abnormality of the epiphysis of the 2nd metacarpal


obsolete Pseudoepiphysis of the 2nd metacarpal


Abnormality of the epiphysis of the 3rd metacarpal


Abnormality of the epiphysis of the 4th metacarpal


Abnormality of the epiphysis of the 5th metacarpal


Absent epiphyses of the phalanges of the hand


Bracket epiphyses of the phalanges of the hand


Cone-shaped epiphyses of the phalanges of the hand


Enlarged epiphyses of the phalanges of the hand


Fragmentation of the epiphyses of the phalanges of the hand


Irregular epiphyses of the phalanges of the hand


Ivory epiphyses of the phalanges of the hand


Pseudoepiphyses of the phalanges of the hand


Small epiphyses of the phalanges of the hand


Epiphyseal stippling of finger phalanges


Triangular epiphyses of the phalanges of the hand


Aplasia of the middle phalanx of the hand


Aplasia of the proximal phalanges of the hand


Abnormality of the epiphyses of the distal phalanx of finger


Abnormality of the epiphyses of the middle phalanges of the hand


Abnormality of the epiphyses of the proximal phalanges of the hand


Absent epiphyses of the distal phalanges of the hand


Bracket epiphyses of the distal phalanges of the hand


Cone-shaped epiphyses of the distal phalanges of the hand


Enlarged epiphyses of the distal phalanges of the hand


Fragmentation of the epiphyses of the distal phalanges of the hand


Irregular epiphyses of the distal phalanges of the hand


Ivory epiphyses of the distal phalanges of the hand


Pseudoepiphyses of the distal phalanges of the hand


Small epiphyses of the distal phalanges of the hand


Stippling of the epiphyses of the distal phalanges of the hand


Triangular epiphyses of the distal phalanges of the hand


Absent epiphyses of the middle phalanges of the hand


Bracket epiphyses of the middle phalanges of the hand


Cone-shaped epiphyses of the middle phalanges of the hand


Enlarged epiphyses of the middle phalanges of the hand


Fragmentation of the epiphyses of the middle phalanges of the hand


Irregular epiphyses of the middle phalanges of the hand


Ivory epiphyses of the middle phalanges of the hand


Pseudoepiphyses of the middle phalanges of the hand


Small epiphyses of the middle phalanges of the hand


Stippling of the epiphyses of the middle phalanges of the hand


Triangular epiphyses of the middle phalanges of the hand


Absent epiphyses of the proximal phalanges of the hand


Bracket epiphyses of the proximal phalanges of the hand


Cone-shaped epiphyses of the proximal phalanges of the hand


Enlarged epiphyses of the proximal phalanges of the hand


Fragmentation of the epiphyses of the proximal phalanges of the hand


Irregular epiphyses of the proximal phalanges of the hand


Ivory epiphyses of the proximal phalanges of the hand


Pseudoepiphyses of the proximal phalanges of the hand


Small epiphyses of the proximal phalanges of the hand


Stippling of the epiphyses of the proximal phalanges of the hand


Triangular epiphyses of the proximal phalanges of the hand


Aplasia/Hypoplasia of the abdominal wall musculature


Abnormality of the epiphyses of the 2nd toe


Abnormal morphology of phalanx of the 2nd toe


Abnormality of the epiphyses of the 3rd toe


Abnormality of the phalanges of the 3rd toe


Abnormality of the epiphyses of the 4th toe


Abnormality of the phalanges of the 4th toe


Abnormality of the epiphyses of the 5th toe


Abnormality of the phalanges of the 5th toe


Aplasia/Hypoplasia of the phalanges of the 2nd toe


Osteolytic defects of the phalanges of the 2nd toe


Triangular shaped phalanges of the 2nd toe


Duplication of the phalanges of the 2nd toe


Abnormality of the distal phalanx of the 2nd toe


Abnormality of the middle phalanx of the 2nd toe


Abnormal morphology of the proximal phalanx of the 2nd toe


Aplasia/Hypoplasia of the phalanges of the 3rd toe


Osteolytic defects of the phalanges of the 3rd toe


Symphalangism affecting the phalanges of the 3rd toe


Triangular shaped phalanges of the 3rd toe


Abnormality of the distal phalanx of the 3rd toe


Abnormality of the middle phalanx of the 3rd toe


Abnormal morphology of the proximal phalanx of the 3rd toe


Aplasia/Hypoplasia of the phalanges of the 4th toe


Osteolytic defects of the phalanges of the 4th toe


Symphalangism affecting the phalanges of the 4th toe


Triangular shaped phalanges of the 4th toe


Abnormality of the distal phalanx of the 4th toe


Abnormality of the middle phalanx of the 4th toe


Abnormal morphology of the proximal phalanx of the 4th toe


Aplasia/Hypoplasia of the phalanges of the 5th toe


Osteolytic defects of the phalanges of the 5th toe


Symphalangism affecting the phalanges of the 5th toe


Triangular shaped phalanges of the 5th toe


Duplication of the phalanges of the 5th toe


Abnormality of the distal phalanx of the 5th toe


Abnormality of the middle phalanx of the 5th toe


Abnormal morphology of the proximal phalanx of the 5th toe


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


Bullet-shaped proximal phalanx of the 2nd toe


Osteolytic defects of the proximal phalanx of the 2nd toe


Patchy sclerosis of the proximal phalanx of the 2nd toe


Symphalangism affecting the proximal phalanx of the 2nd toe


Triangular shaped proximal phalanx of the 2nd toe


Duplication of the proximal phalanx of the 2nd toe


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


Bullet-shaped middle phalanx of the 2nd toe


Osteolytic defects of the middle phalanx of the 2nd toe


Patchy sclerosis of the middle phalanx of the 2nd toe


Symphalangism affecting the middle phalanx of the 2nd toe


Triangular shaped middle phalanx of the 2nd toe


Duplication of the middle phalanx of the 2nd toe


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


Bullet-shaped distal phalanx of the 2nd toe


Osteolytic defects of the distal phalanx of the 2nd toe


Patchy sclerosis of the distal phalanx of the 2nd toe


Symphalangism affecting the distal phalanx of the 2nd toe


Triangular shaped distal phalanx of the 2nd toe


Duplication of the distal phalanx of the 2nd toe


Complete duplication of the proximal phalanx of the 2nd toe


Partial duplication of the proximal phalanx of the 2nd toe


Complete duplication of the distal phalanx of the 2nd toe


Partial duplication of the distal phalanx of the 2nd toe


Complete duplication of the middle phalanx of the 2nd toe


Partial duplication of the middle phalanx of the 2nd toe


Partial duplication of phalanx of the 2nd toe


Complete duplication of the phalanges of the 2nd toe


Aplasia of the middle phalanx of the 2nd toe


Aplasia of the proximal phalanx of the 2nd toe


Abnormal greater sciatic notch morphology


obsolete Widening of the sacrosciatic notch


Abnormal circulating porphyrin concentration


Aplasia/Hypoplasia of the palmar creases


Advanced pneumatization of cranial sinuses


Weakness due to upper motor neuron dysfunction


Low maternal circulating alpha-fetoprotein concentration


Elevated circulating phytanic acid concentration


Abnormality of the epiphysis of the femoral head


Abnormality of the distal femoral epiphysis


Abnormality of the proximal tibial epiphysis


Abnormality of the distal tibial epiphysis


Abnormality of the proximal fibular epiphysis


Abnormality of the distal fibular epiphysis


Abnormality of the proximal radial epiphysis


Abnormality of the distal radial epiphysis


Abnormality of the proximal humeral epiphysis


Abnormality of the distal humeral epiphysis


Abnormal distal ulnar epiphysis morphology


Abnormal proximal ulnar epiphysis morphology


Abnormal morphology of the cortex of the humerus


Abnormal metatarsal epiphysis morphology


Abnormality of the epiphyses of the feet


Elevated alkaline phosphatase of hepatic origin


Elevated alkaline phosphatase of bone origin


Aplasia of the distal phalanges of the toes


Patchy reduction of bone mineral density


Patchy variation in bone mineral density


Abnormality of the third metatarsal bone


Abnormal curvature of the vertebral column


Elevated tissue non-specific alkaline phosphatase


Elevated alkaline phosphatase of renal origin


Elevated intestinal alkaline phosphatase


Low tissue non-specific alkaline phosphatase


Low alkaline phosphatase of renal origin


Low alkaline phosphatase of hepatic origin


Advanced pneumatization of the mastoid process


Extension of eyebrows towards upper eyelid


Abnormality of the temporomandibular joint


Partial anomalous pulmonary venous return


Impaired visuospatial constructive cognition


Abnormality of the eleventh cranial nerve


Abnormality of the twelfth cranial nerve


Abnormality of the seventh cranial nerve


Abnormal circulating copper concentration


Decreased circulating ceruloplasmin concentration


High nonceruloplasmin-bound serum copper


EEG with persistent abnormal rhythmic activity


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


EEG with periodic lateralized epileptiform discharges


EEG with generalized low amplitude activity


EEG with localized low amplitude activity


EEG with hyperventilation-induced epileptiform discharges


Abnormal circulating protein concentration


Abnormal circulating branched chain amino acid concentration


Abnormal circulating phenylalanine concentration


Abnormal circulating serine family amino acid concentration


Abnormal circulating glycine concentration


Abnormal circulating sarcosine concentration


Abnormal circulating aspartate family amino acid concentration


Abnormal circulating threonine concentration


Abnormal circulating methionine concentration


Abnormal circulating glutamine family amino acid concentration


Abnormal circulating glutamine concentration


Abnormal circulating histidine concentration


obsolete Abnormality of histidine metabolism


Abnormal circulating proline concentration


Abnormal circulating lysine concentration


Abnormal circulating arginine concentration


Abnormal circulating isoleucine concentration


Abnormal circulating valine concentration


Abnormal circulating pyruvate family amino acid concentration


Abnormal circulating alanine concentration


Abnormal circulating tyrosine concentration


Abnormal circulating cysteine concentration


Abnormal circulating homocysteine concentration


Abnormal blood inorganic cation concentration


obsolete Increased urinary orotic acid concentration


Abnormal blood monovalent inorganic cation concentration


Abnormal circulating nucleobase concentration


Abnormality of ductus venosus blood flow


Abnormal fetal cardiovascular morphology


Abnormality of umbilical vein blood flow


Congenital pulmonary airway malformation


Absence of stomach bubble on fetal sonography


Abnormal circulating long-chain fatty-acid concentration


Abnormal circulating phytanic acid concentration


Abnormal circulating fatty-acid anion concentration


Abnormal circulating carnitine concentration


Abnormality of liposaccharide metabolism


Absence of Lutheran antigen on erythrocytes


Abnormality of lipoprotein cholesterol concentration


Abnormal cellular immune system morphology


Abnormality of the common coagulation pathway


Abnormal morphology of the abdominal musculature


Abnormal circulating dicarboxylic acid concentration


Abnormal circulating monocarboxylic acid concentration


Chromosomal breakage induced by ionizing radiation


Increased susceptibility to spontaneous sister chromatid exchange


Abnormal morphology of the musculature of the neck


Abnormal circulating polysaccharide concentration


Abnormal circulating carbohydrate concentration


obsolete Abnormality of urine glucose concentration


Abnormality of mucopolysaccharide metabolism


Abnormal circulating unsaturated fatty acid concentration


Abnormal circulating prostaglandin circulation


Abnormality of the gastrointestinal tract


Abnormal cardiovascular system physiology


Abnormal blood transition element cation concentration


Abnormal intrahepatic bile duct morphology


Aplasia/Hypoplasia of the cervical spine


Abnormal circulating adrenocorticotropin concentration


Agenesis of permanent maxillary central incisor


Agenesis of primary maxillary central incisor


Agenesis of primary mandibular central incisor


Agenesis of permanent mandibular central incisor


Agenesis of primary maxillary lateral incisor


Agenesis of permanent maxillary lateral incisor


Dentinogenesis imperfecta limited to primary teeth


Abnormality of permanent molar morphology


Dentinogenesis imperfecta of primary and permanent teeth


Abnormal left ventricular outflow tract morphology


Abnormality of immune serum protein physiology


Defective production of NFKB1-dependent cytokines


Abnormality of tumor necrosis factor secretion


Increased sensitivity to ionizing radiation


Age-related posterior subcapsular cataract


obsolete Absence seizures with special features


obsolete Focal autonomic seizures with altered responsiveness


obsolete Focal autonomic seizures without altered responsiveness


Focal sensory seizure with auditory features


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


Focal sensory seizure with gustatory features


Focal sensory seizure with olfactory features


Focal sensory seizure with somatosensory features


Focal sensory seizure with visual features


EEG with hyperventilation-induced focal epileptiform discharges


EEG with hyperventilation-induced generalized epileptiform discharges


Focal epileptiform discharges with limited propagation to contralateral hemisphere


Focal EEG discharges with propagation to ipsilateral hemisphere


Focal EEG discharges with secondary generalization


Bilateral multifocal epileptiform discharges


Uni- and bilateral multifocal epileptiform discharges


Unilateral multifocal epileptiform discharges


Polymorphic focal epileptiform discharges


EEG with generalized epileptiform discharges


EEG with generalized polymorphic epileptiform discharges


EEG with generalized slow activity grade 1


EEG with generalized slow activity grade 2


EEG with generalized slow activity grade 3


EEG with generalized slow activity grade 4


EEG with photoparoxysmal response grade I


EEG with photoparoxysmal response grade II


EEG with photoparoxysmal response grade III


EEG with photoparoxysmal response grade IV


Elevated circulating C-reactive protein concentration


Underdeveloped inferior crus of antihelix


Abnormality of inferior crus of antihelix


Abnormality of superior crus of antihelix


Underdeveloped superior crus of antihelix


Expanded terminal portion of crus of helix


Recurrent mycobacterium avium complex infections


Abnormality of the urinary system physiology


Abnormality of urine calcium concentration


Abnormality of urine catecholamine level


Incomplete partition of the cochlea type I


Morphological abnormality of the vestibule of the inner ear


Hypoplasia of the vestibule of the inner ear


Morphological abnormality of the semicircular canal


Abnormality of the internal auditory canal


Morphological abnormality of the inner ear


Morphological abnormality of the nerves of the inner ear


Abnormality of the dorsal column of the spinal cord


Abnormal umbilical cord blood vessel morphology


Childhood onset short-limb short stature


Moderate intrauterine growth retardation


High maternal circulating alpha-fetoprotein concentration


High maternal circulating chorionic gonadotropin concentration


Low maternal circulating chorionic gonadotropin concentration


Low maternal circulating PAPP-A concentration


Functional abnormality of the middle ear


Abnormality of small intestinal villus morphology


Childhood onset sensorineural hearing impairment


Profound sensorineural hearing impairment


Anterior synechiae of the anterior chamber


Posterior synechiae of the anterior chamber


Abnormal migration of corneal endothelium


Reduced number of corneal endothelial cells


Solitary congenital hypertrophy of retinal pigment epithelium


Multiple bilateral congenital hypertrophy of retinal pigment epithelium


Abnormal spatial orientation of the cardiac segments


Congenitally corrected transposition of the great arteries


Criss-cross atrioventricular valves with superior-inferior ventricles


Superior-inferior ventricles without criss-cross atrioventricular valves


Abnormal connection of the cardiac segments


Absent left sided atrioventricular connection


Absent right sided atrioventricular connection


Univentricular heart with absent left sided atrioventricular connection


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


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


Double inlet atrioventricular connection


Double inlet to single ventricle of indeterminate morphology


Double inlet to single ventricle with common atrioventricular orifice


Double inlet to single ventricle with two atrioventricular valves


Intermediate atrioventricular canal defect


Transitional atrioventricular canal defect


Unbalanced atrioventricular canal defect


Short chordae tendineae of the mitral valve


Abnormal branching pattern of the aortic arch


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


Left aortic arch with cervical origin of the right subclavian artery


Left aortic arch with isolated subclavian artery


Left aortic arch with retroesophageal diverticulum of Kommerell


Right aortic arch with retroesophageal diverticulum of Kommerell


Left aortic arch with retroesophageal right subclavian artery


Left aortic arch with right descending aorta and right ductus arteriosus


Right aortic arch with left descending aorta and left ductus arteriosus


Right aortic arch with retroesophageal left subclavian artery


Congenital malformation of the great arteries


Congenitally corrected transposition of the great arteries with ventricular septal defect


obsolete Transposition of the great arteries with intact ventricular septum


obsolete Transposition of the great arteries with ventricular septal defect


Pulmonary situs ambiguus with bilateral morphologic right lungs


Pulmonary situs ambiguus with bilateral morphologic left lungs


Apical muscular ventricular septal defect


Multiple muscular ventricular septal defects


Complete diaphragmatic absence of pericardium


Complete right sided absence of pericardium


Partial right sided absence of pericardium


Complete left sided absence of pericardium


Partial left sided absence of pericardium


Partial diaphragmatic absence of pericardium


Anomalous origin of coronary artery from the pulmonary artery


Anomalous origin of left coronary artery from the pulmonary artery


Anomalous origin of right coronary artery from the pulmonary artery


Patent ductus arteriosus after birth at term


Patent ductus arteriosus after premature birth


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


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


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


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


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


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


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


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


Tetralogy of Fallot with absent pulmonary valve


Anomalous origin of one pulmonary artery from ascending aorta


Anomalous origin of left pulmonary artery from ascending aorta


Left ventricular noncompaction cardiomyopathy


Bilateral superior vena cava with bridging vein


Bilateral superior vena cava with no bridging vein


Left superior vena cava draining directly to the left atrium


Left superior vena cava draining to coronary sinus


Interrupted inferior vena cava with azygous continuation


Tetralogy of Fallot with absent subarterial conus


Tetralogy of Fallot with atrioventricular canal defect


Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries


Tetralogy of Fallot with pulmonary stenosis


Single ventricle of indeterminate morphology


Perimembranous ventricular septal defect


Non-restrictive ventricular septal defect


Supraventricular tachycardia with an accessory connection mediated pathway


Supraventricular tachycardia with a concealed accessory connection


Permanent junctional reciprocating tachycardia


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


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


Supraventricular tachycardia with a concealed accessory pathway on the septum


Supraventricular tachycardia with a manifest accessory pathway


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


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


Supraventricular tachycardia with a manifest accessory pathway on the septum


Abnormal electrophysiology of sinoatrial node origin


Supracardiac total anomalous pulmonary venous connection


Cardiac total anomalous pulmonary venous connection


Infracardiac total anomalous pulmonary venous connection


Mixed total anomalous pulmonary venous connection


Congenital malformation of the right heart


Abnormality of circulating cortisol level


Adrenocorticotropin deficient adrenal insufficiency


Corticotropin-releasing hormone deficient adrenal insufficiency


Corticotropin-releasing hormone receptor defect


Abnormality of the parathyroid morphology


Abnormality of the parathyroid physiology


Thyrotoxicosis from ectopic thyroid tissue


Thyrotoxicosis with toxic multinodular goiter


Thyrotoxicosis with toxic single thyroid nodule


Impaired sensitivity to thyroid stimulating hormone


Activating thyroid-stimulating hormone receptor defect


Inactivating thyroid-stimulating hormone receptor defect


Abnormal appendicular skeleton morphology


Abnormal bone collagen fibril morphology


Impaired arachidonic acid-induced platelet aggregation


Impaired ristocetin-induced platelet aggregation


Impaired thrombin-induced platelet aggregation


Abnormal platelet membrane protein expression


Acute disseminated intravascular coagulation


Impaired thromboxane A2 agonist-induced platelet aggregation


Anemia due to reduced life span of red cells


Abnormal metacarpophalangeal joint morphology


Abnormal activity of mitochondrial respiratory chain


Decreased activity of mitochondrial complex I


Decreased activity of mitochondrial complex III


Decreased activity of mitochondrial ATP synthase complex


Hypersegmentation of proximal phalanx of third finger


Abnormal superior cerebellar peduncle morphology


Bronchiolitis obliterans organizing pneumonia


Recurrent acute respiratory tract infection


Nodular regenerative hyperplasia of liver


Unilateral hypoplasia of pectoralis major muscle


Abnormal circulating citrulline concentration


Decreased circulating copper concentration


Elevated circulating luteinizing hormone level


Impaired neutrophil bactericidal activity


Focal cognitive seizure with deja vu/jamais vu


Focal cognitive seizure with hallucination


Abnormal circulating ornithine concentration


Decreased circulating calcifediol concentration


Urinary excretion of sialylated oligosaccharides


Increased urinary disaccharide excretion


Abnormal circulating acetylcarnitine concentration


Ubiquitin-positive cerebral inclusion bodies


Abnormality of skeletal muscle fiber size


Abnormality of exocrine pancreas physiology


Abnormality of endocrine pancreas physiology


Abnormality of circulating catecholamine level


Abnormal circulating creatinine concentration


Abnormality of circulating glucocorticoid level


Abnormal circulating corticosterone level


Abnormal circulating creatine concentration


Abnormal circulating albumin concentration


Abnormality of bone marrow stromal cells


Abnormal erythroid lineage cell morphology


Abnormal granulocytopoietic cell morphology


Abnormal number of granulocyte precursors


obsolete Abnormality of cells of the lymphoid lineage


Abnormality of multiple cell lineages in the bone marrow


Reduced quantity of Von Willebrand factor


Intracranial internal carotid artery dissection


Entrapment neuropathy of the ulnar nerve at elbow


Increased erythrocyte protoporphyrin concentration


Entrapment neuropathy of suprascapular nerve


Non-caseating epithelioid cell granulomatosis


Increased circulating chylomicron concentration


Increased intramyocellular lipid droplets


Abnormal respiratory epithelium morphology


Dynein arm defect of respiratory motile cilia


Abnormal axonemal organization of respiratory motile cilia


Abnormal central microtubular pair morphology of respiratory motile cilia


Abnormal respiratory motile cilium physiology


Absent central microtubular pair morphology of respiratory motile cilia


Absent respiratory ciliary axoneme radial spokes


Increased carotid artery intimal medial thickness


Autosomal dominant inheritance with paternal imprinting


Autosomal dominant inheritance with maternal imprinting


Abnormal circulating serine concentration


Hypothalamic luteinizing hormone-releasing hormone deficiency


Coarctation of the descending aortic arch


Decreased circulating complement C9 concentration


Abnormal autonomic nervous system morphology


Abnormal autonomic nervous system physiology


obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration


Decreased circulating ferritin concentration


Decreased galactosylation of N-linked protein glycosylation


Abnormal sialylation of N-linked protein glycosylation


Decreased sialylation of N-linked protein glycosylation


Increased sialylation of N-linked protein glycosylation


Abnormal fucosylation of protein N-linked glycosylation


Decreased fucosylation of N-linked protein glycosylation


Increased fucosylation of N-linked protein glycosylation


Abnormal mannosylation of N-linked protein glycosylation


Decreased mannosylation of N-linked protein glycosylation


Increased mannosylation of N-linked protein glycosylation


Abnormal fucosylation of O-linked protein glycosylation


Decreased fucosylation of O-linked protein glycosylation


Increased fucosylation of O-linked protein glycosylation


Abnormal sialylation of O-linked protein glycosylation


Decreased sialylation of O-linked protein glycosylation


Abnormal circulating enzyme concentration or activity


Reduced carnitine O-palmitoyltransferase level


Delayed self-feeding during toddler years


Abnormal circulating aldolase concentration


Abnormal urine alpha-ketoglutarate concentration


Increased urine alpha-ketoglutarate concentration


Decreased urine alpha-ketoglutarate concentration


Aplasia/Hypoplasia of the cerebral white matter


Nonocclusive coronary artery atherosclerosis


Decreased CSF 5-methyltetrahydrofolate concentration


Medial calcification of medium-sized arteries


Decreased circulating level of specific antibody


Decreased specific pneumococcal antibody level


Abnormal surface-connected open canalicular system


Abnormal brainstem white matter morphology


Extra-axial cerebrospinal fluid accumulation


Tetralogy of Fallot with pulmonary atresia


Hypoplastic posterior communicating artery


Maternal anticardiolipin antibody positive


Elevated circulating aldolase concentration


Reduced circulating aldolase concentration


Increased neutrophil nuclear projections


EEG with centrotemporal focal spike waves


Premature epimetaphyseal fusion in tibia


Premature epimetaphyseal fusion in fibula


Premature epimetaphyseal fusion in radius


Abnormal urinary electrolyte concentration


Abnormal suspensory ligament of lens morphology


Pigment deposition in the trabecular meshwork


Abnormal brain positron emission tomography


Abnormal brain FDG positron emission tomography


Mildly reduced left ventricular ejection fraction


Reduced left ventricular ejection fraction


Moderately reduced left ventricular ejection fraction


Severely reduced left ventricular ejection fraction


Regional left ventricular wall motion abnormality


obsolete Iron accumulation in globus pallidus


Reduced brain N-acetyl aspartate level by MRS


Abnormal brain choline/creatine ratio by MRS


Delayed ossification of vertebral epiphysis


Morphological abnormality of the gastrointestinal tract


Functional abnormality of the gastrointestinal tract


Fusiform descending thoracic aortic aneurysm


Saccular descending thoracic aortic aneurysm


Abnormal basal ganglia MRI signal intensity


Focal T2 hypointense basal ganglia lesion


Absent ossification of thoracic vertebral bodies


Periventricular white matter hypodensities


Right ventricular noncompaction cardiomyopathy


Abnormal male reproductive system physiology


Abnormal upper-limb motor evoked potentials


Abnormal lower-limb motor evoked potentials


Anti-granulocyte-macrophage colony stimulating factor antibody positivity


Prolonged need of intravenous antibiotic therapy


Abnormal CD4+CD25+ regulatory T cell proportion


Increased proportion of CD4+CD25+ regulatory T cells


Decreased proportion of CD4+CD25+ regulatory T cells


Persistent human papillomavirus infection


Abnormal retinal nerve fiber layer morphology


Conception by assisted reproductive technology


Increased urinary neutrophil gelatinase-associated lipocalin


Abnormal tubular basement membrane morphology


Thickening of the tubular basement membrane


Blood pressure substantially higher in legs than arms


Blood pressure substantially higher in arms than legs


Increased circulating adrenic acid concentration


Reduced response to gonadotropin-releasing hormone stimulation test


Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells


Abnormal circulating haptoglobin concentration


Abnormal circulating A-type atrial natriuretic peptide concentration


Increased circulating A-type natriuretic peptide concentration


Decreased circulating A-type natriuretic peptide concentration


Anterior predominant pachygyria with 5-10 mm cortical thickness


Posterior predominant thick cortex pachygyria


Perisylvian predominant thick cortex pachygyria


Anterior predominant thick cortex pachygyria


Pachygyria with 5-10 mm cortical thickness


Increased circulating arachidonic acid concentration


Abnormal circulating 18-hydroxycorticosterone level


Decreased circulating 18-hydroxycortisone level