GTR Home > Laboratories > Fulgent Genetics

Fulgent Genetics

GTR Lab ID: 500105, Last updated:2017-02-01

Personnel

Conditions and tests

  • 1-3 toe syndactyly1 test
  • 1-5 toe syndactyly1 test
  • 11 pairs of ribs3 tests
  • 2,4-Dienoyl-CoA reductase deficiency1 test
  • 2-3 finger syndactyly4 tests
  • 2-3 toe syndactyly8 tests
  • 2-4 toe syndactyly1 test
  • 2-aminoadipic 2-oxoadipic aciduria1 test
  • 2-methyl-3-hydroxybutyric aciduria8 tests
  • 21-hydroxylase deficiency2 tests
  • 22q13.3 deletion syndrome3 tests
  • 3 beta-Hydroxysteroid dehydrogenase deficiency2 tests
  • 3 Methylcrotonyl-CoA carboxylase 1 deficiency4 tests
  • 3-4 finger cutaneous syndactyly1 test
  • 3-4 finger syndactyly2 tests
  • 3-methylcrotonyl CoA carboxylase 2 deficiency4 tests
  • 3-Methylglutaconic aciduria11 tests
  • 3-Methylglutaconic aciduria type 28 tests
  • 3-Methylglutaconic aciduria type 35 tests
  • 3-methylglutaconic aciduria type V2 tests
  • 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1 test
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
  • 4-5 toe syndactyly1 test
  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency5 tests
  • 4-Hydroxyphenylacetic aciduria1 test
  • 4-Hydroxyphenylpyruvate dioxygenase deficiency5 tests
  • 4-Hydroxyphenylpyruvic aciduria1 test
  • 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy1 test
  • 46,XY sex reversal 82 tests
  • 46,XY sex reversal, type 22 tests
  • 46,XY sex reversal, type 31 test
  • 46,XY sex reversal, type 51 test
  • 46,XY sex reversal, type 61 test
  • 46,XY sex reversal, type 71 test
  • 4p partial monosomy syndrome1 test
  • 5-Oxoprolinase deficiency1 test
  • 6-pyruvoyl-tetrahydropterin synthase deficiency3 tests
  • Aarskog syndrome8 tests
  • Aase syndrome3 tests
  • ABCD syndrome4 tests
  • Abdominal aortic aneurysm1 test
  • Abdominal distention6 tests
  • Abdominal obesity4 tests
  • Abdominal pain27 tests
  • Abdominal situs inversus4 tests
  • Abetalipoproteinaemia2 tests
  • Abnormal activity of mitochondrial respiratory chain1 test
  • Abnormal bleeding3 tests
  • Abnormal blistering of the skin9 tests
  • Abnormal cholesterol homeostasis1 test
  • Abnormal ciliary motility1 test
  • Abnormal CNS myelination2 tests
  • Abnormal cortical bone morphology4 tests
  • Abnormal cortical gyration2 tests
  • Abnormal dermatoglyphics11 tests
  • Abnormal eating behavior4 tests
  • Abnormal electroretinogram18 tests
  • Abnormal facial shape24 tests
  • Abnormal fear/anxiety-related behavior1 test
  • Abnormal finger flexion creases2 tests
  • Abnormal flash visual evoked potentials1 test
  • Abnormal foot bone ossification1 test
  • Abnormal form of the vertebral bodies16 tests
  • Abnormal glucose tolerance1 test
  • Abnormal glycosylation (CDG IIa)2 tests
  • Abnormal hair quantity26 tests
  • Abnormal hair whorl5 tests
  • Abnormal heart morphology2 tests
  • Abnormal immunoglobulin level8 tests
  • Abnormal internal genitalia1 test
  • Abnormal isoelectric focusing of serum transferrin1 test
  • Abnormal joint morphology2 tests
  • Abnormal localization of kidney22 tests
  • Abnormal lower motor neuron morphology1 test
  • Abnormal lung lobation5 tests
  • Abnormal mitochondria in muscle tissue5 tests
  • Abnormal nasal morphology16 tests
  • Abnormal nervous system electrophysiology2 tests
  • Abnormal ossification involving the femoral head and neck1 test
  • Abnormal ossification of hand bones1 test
  • Abnormal pattern of respiration10 tests
  • Abnormal pelvis bone ossification1 test
  • Abnormal pigmentation of the oral mucosa9 tests
  • Abnormal posturing1 test
  • Abnormal pyramidal signs18 tests
  • Abnormal renal morphology3 tests
  • Abnormal renal physiology4 tests
  • Abnormal sperm morphology1 test
  • Abnormal spermatogenesis6 tests
  • Abnormal subcutaneous fat tissue distribution1 test
  • Abnormal T-wave4 tests
  • Abnormal tendon morphology5 tests
  • Abnormal thrombosis2 tests
  • Abnormal vertebral ossification1 test
  • Abnormal vestibulo-ocular reflex3 tests
  • Abnormality of abdomen morphology13 tests
  • Abnormality of adipose tissue5 tests
  • Abnormality of blood and blood-forming tissues3 tests
  • Abnormality of bone marrow cell morphology15 tests
  • Abnormality of bone mineral density9 tests
  • Abnormality of branched chain family amino acid metabolism3 tests
  • Abnormality of buccal mucosa1 test
  • Abnormality of calcium-phosphate metabolism3 tests
  • Abnormality of calvarial morphology13 tests
  • Abnormality of cells of the granulocytic lineage2 tests
  • Abnormality of cells of the megakaryocyte lineage1 test
  • Abnormality of cholesterol metabolism1 test
  • Abnormality of chromosome segregation1 test
  • Abnormality of chromosome stability14 tests
  • Abnormality of coagulation31 tests
  • Abnormality of color vision15 tests
  • Abnormality of connective tissue1 test
  • Abnormality of creatine metabolism2 tests
  • Abnormality of dental color10 tests
  • Abnormality of dental enamel19 tests
  • Abnormality of dental morphology9 tests
  • Abnormality of dentin1 test
  • Abnormality of earlobe1 test
  • Abnormality of eosinophils4 tests
  • Abnormality of epiphysis morphology9 tests
  • Abnormality of erythrocytes2 tests
  • Abnormality of extrapyramidal motor function14 tests
  • Abnormality of eye movement7 tests
  • Abnormality of female external genitalia9 tests
  • Abnormality of female internal genitalia25 tests
  • Abnormality of finger7 tests
  • Abnormality of frontal sinus1 test
  • Abnormality of ganglioside metabolism1 test
  • Abnormality of glycosphingolipid metabolism1 test
  • Abnormality of hair texture3 tests
  • Abnormality of immune system physiology14 tests
  • Abnormality of iron homeostasis1 test
  • Abnormality of lateral ventricle1 test
  • Abnormality of leukocytes5 tests
  • Abnormality of lipid metabolism2 tests
  • Abnormality of lower lip4 tests
  • Abnormality of macular pigmentation1 test
  • Abnormality of metabolism/homeostasis39 tests
  • Abnormality of mitochondrial metabolism5 tests
  • Abnormality of movement11 tests
  • Abnormality of mucopolysaccharide metabolism1 test
  • Abnormality of muscle fibers1 test
  • Abnormality of nail color7 tests
  • Abnormality of natural killer cells2 tests
  • Abnormality of neuronal migration63 tests
  • Abnormality of neutrophils15 tests
  • Abnormality of oral frenula1 test
  • Abnormality of pelvic girdle bone morphology12 tests
  • Abnormality of periauricular region4 tests
  • Abnormality of reproductive system physiology2 tests
  • Abnormality of retinal pigmentation39 tests
  • Abnormality of saccadic eye movements2 tests
  • Abnormality of skin pigmentation10 tests
  • Abnormality of temperature regulation14 tests
  • Abnormality of thalamus morphology4 tests
  • Abnormality of the abdominal musculature1 test
  • Abnormality of the abdominal organs1 test
  • Abnormality of the abdominal wall15 tests
  • Abnormality of the acetabulum1 test
  • Abnormality of the adrenal glands4 tests
  • Abnormality of the amniotic fluid1 test
  • Abnormality of the ankles5 tests
  • Abnormality of the anterior chamber3 tests
  • Abnormality of the antihelix5 tests
  • Abnormality of the antitragus1 test
  • Abnormality of the aorta16 tests
  • Abnormality of the aortic valve15 tests
  • Abnormality of the aryepiglottic fold1 test
  • Abnormality of the autonomic nervous system6 tests
  • Abnormality of the basal ganglia3 tests
  • Abnormality of the breast1 test
  • Abnormality of the bronchi7 tests
  • Abnormality of the calcaneus1 test
  • Abnormality of the cardiac septa15 tests
  • Abnormality of the cardiovascular system18 tests
  • Abnormality of the carotid arteries12 tests
  • Abnormality of the carpal bones1 test
  • Abnormality of the cerebellum3 tests
  • Abnormality of the cerebral vasculature5 tests
  • Abnormality of the cerebral white matter3 tests
  • Abnormality of the cervical spine1 test
  • Abnormality of the choroid1 test
  • Abnormality of the clavicle11 tests
  • Abnormality of the coagulation cascade2 tests
  • Abnormality of the columella1 test
  • Abnormality of the corpus callosum2 tests
  • Abnormality of the cranial nerves1 test
  • Abnormality of the diaphragm1 test
  • Abnormality of the distal phalanx of finger1 test
  • Abnormality of the ear5 tests
  • Abnormality of the elbow1 test
  • Abnormality of the endocardium3 tests
  • Abnormality of the endocrine system2 tests
  • Abnormality of the eye18 tests
  • Abnormality of the eyebrow10 tests
  • Abnormality of the eyelashes11 tests
  • Abnormality of the eyelid3 tests
  • Abnormality of the face5 tests
  • Abnormality of the femur11 tests
  • Abnormality of the fibula2 tests
  • Abnormality of the fifth metatarsal bone1 test
  • Abnormality of the fingernails19 tests
  • Abnormality of the fontanelles or cranial sutures8 tests
  • Abnormality of the foot12 tests
  • Abnormality of the forearm1 test
  • Abnormality of the gallbladder1 test
  • Abnormality of the gastric mucosa6 tests
  • Abnormality of the gastrointestinal tract1 test
  • Abnormality of the genital system9 tests
  • Abnormality of the genitourinary system1 test
  • Abnormality of the gingiva1 test
  • Abnormality of the hair8 tests
  • Abnormality of the hand3 tests
  • Abnormality of the head2 tests
  • Abnormality of the heart valves1 test
  • Abnormality of the helix21 tests
  • Abnormality of the heme biosynthetic pathway3 tests
  • Abnormality of the hip bone23 tests
  • Abnormality of the humerus1 test
  • Abnormality of the hypothalamus-pituitary axis19 tests
  • Abnormality of the immune system3 tests
  • Abnormality of the integument4 tests
  • Abnormality of the intervertebral disk7 tests
  • Abnormality of the intestine5 tests
  • Abnormality of the kidney8 tests
  • Abnormality of the knee4 tests
  • Abnormality of the larynx2 tests
  • Abnormality of the left ventricle1 test
  • Abnormality of the liver23 tests
  • Abnormality of the lymphatic system13 tests
  • Abnormality of the macula8 tests
  • Abnormality of the medullary cavity of the long bones1 test
  • Abnormality of the menstrual cycle6 tests
  • Abnormality of the metacarpal bones25 tests
  • Abnormality of the metaphyses15 tests
  • Abnormality of the middle ear1 test
  • Abnormality of the middle ear ossicles1 test
  • Abnormality of the mitochondrion1 test
  • Abnormality of the mitral valve8 tests
  • Abnormality of the mouth11 tests
  • Abnormality of the musculature12 tests
  • Abnormality of the musculature of the lower limbs2 tests
  • Abnormality of the nail15 tests
  • Abnormality of the nares3 tests
  • Abnormality of the nasal alae1 test
  • Abnormality of the nasal bridge1 test
  • Abnormality of the nasopharynx1 test
  • Abnormality of the neck4 tests
  • Abnormality of the nervous system4 tests
  • Abnormality of the nipple8 tests
  • Abnormality of the nose8 tests
  • Abnormality of the optic disc1 test
  • Abnormality of the oral cavity9 tests
  • Abnormality of the outer ear4 tests
  • Abnormality of the palate29 tests
  • Abnormality of the palpebral fissures1 test
  • Abnormality of the pancreas8 tests
  • Abnormality of the parathyroid gland8 tests
  • Abnormality of the penis11 tests
  • Abnormality of the pericardium8 tests
  • Abnormality of the peritoneum8 tests
  • Abnormality of the periventricular white matter8 tests
  • Abnormality of the pharynx8 tests
  • Abnormality of the philtrum8 tests
  • Abnormality of the pinna15 tests
  • Abnormality of the pleura9 tests
  • Abnormality of the pons3 tests
  • Abnormality of the preputium9 tests
  • Abnormality of the pulmonary artery11 tests
  • Abnormality of the pulmonary valve20 tests
  • Abnormality of the pupil10 tests
  • Abnormality of the renal tubule3 tests
  • Abnormality of the respiratory system8 tests
  • Abnormality of the retinal vasculature29 tests
  • Abnormality of the rib cage4 tests
  • Abnormality of the ribs17 tests
  • Abnormality of the sacroiliac joint1 test
  • Abnormality of the sacrum7 tests
  • Abnormality of the salivary glands3 tests
  • Abnormality of the scapula1 test
  • Abnormality of the sclera1 test
  • Abnormality of the sense of smell11 tests
  • Abnormality of the skeletal system4 tests
  • Abnormality of the skin16 tests
  • Abnormality of the skull2 tests
  • Abnormality of the soft palate1 test
  • Abnormality of the spleen12 tests
  • Abnormality of the sternum9 tests
  • Abnormality of the teeth33 tests
  • Abnormality of the testis27 tests
  • Abnormality of the thorax15 tests
  • Abnormality of the thumb4 tests
  • Abnormality of the thymus2 tests
  • Abnormality of the thyroid gland6 tests
  • Abnormality of the tibia4 tests
  • Abnormality of the toenails7 tests
  • Abnormality of the tongue18 tests
  • Abnormality of the tonsils1 test
  • Abnormality of the tracheobronchial system1 test
  • Abnormality of the tragus1 test
  • Abnormality of the tricuspid valve5 tests
  • Abnormality of the ulna14 tests
  • Abnormality of the umbilicus1 test
  • Abnormality of the upper urinary tract18 tests
  • Abnormality of the ureter11 tests
  • Abnormality of the urethra3 tests
  • Abnormality of the urinary system6 tests
  • Abnormality of the vagina3 tests
  • Abnormality of the ventricular septum1 test
  • Abnormality of the vertebrae11 tests
  • Abnormality of the vertebral column2 tests
  • Abnormality of the vertebral spinous processes1 test
  • Abnormality of the vitreous humor5 tests
  • Abnormality of the voice28 tests
  • Abnormality of the wrist2 tests
  • Abnormality of thrombocytes25 tests
  • Abnormality of thumb phalanx11 tests
  • Abnormality of toe7 tests
  • Abnormality of urine catecholamine concentration4 tests
  • Abnormality of urine homeostasis1 test
  • Abnormality of vision1 test
  • Abnormality of visual evoked potentials6 tests
  • Abnormally folded helix1 test
  • Abnormally low-pitched voice1 test
  • Abnormally prominent line of Schwalbe8 tests
  • ABO blood group system1 test
  • Abruzzo Erickson syndrome1 test
  • Absence of Stensen duct1 test
  • Absence of subcutaneous fat1 test
  • Absence seizures7 tests
  • Absent Achilles reflex1 test
  • Absent axillary hair2 tests
  • Absent corpus callosum cataract immunodeficiency1 test
  • Absent earlobe1 test
  • Absent eyebrow1 test
  • Absent eyelashes1 test
  • Absent facial hair1 test
  • Absent fourth finger distal interphalangeal crease1 test
  • Absent frontal sinuses2 tests
  • Absent hand5 tests
  • Absent lacrimal punctum1 test
  • Absent nail of hallux1 test
  • Absent nasal septal cartilage4 tests
  • Absent or minimally ossified vertebral bodies1 test
  • Absent outer dynein arms2 tests
  • Absent pigmentation of the ventral chest3 tests
  • Absent proximal phalanx of thumb1 test
  • Absent radius6 tests
  • Absent septum pellucidum5 tests
  • Absent skin pigmentation1 test
  • Absent speech17 tests
  • Absent thumb13 tests
  • Absent toenail1 test
  • Absent ulna1 test
  • Absent urinary urothione1 test
  • Absent/hypoplastic coccyx1 test
  • Absent/hypoplastic paranasal sinuses1 test
  • Acanthocytosis3 tests
  • Acanthosis nigricans14 tests
  • Acatalasemia1 test
  • Accelerated skeletal maturation8 tests
  • Accelerated tumor formation, susceptibility to1 test
  • Accessory carpal bones1 test
  • Accessory oral frenulum1 test
  • Accessory spleen1 test
  • Acetabular dysplasia3 tests
  • Acetabular spurs1 test
  • Acetyl-carnitine deficiency1 test
  • Acetyl-CoA acetyltransferase-2 deficiency2 tests
  • Acetyl-CoA: carboxylase deficiency3 tests
  • Achalasia2 tests
  • Acheiropodia2 tests
  • Achilles tendon contracture6 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB3 tests
  • Achondrogenesis, type II8 tests
  • Achondroplasia6 tests
  • Achromatic retinal patches7 tests
  • Achromatopsia1 test
  • Achromatopsia 22 tests
  • Achromatopsia 35 tests
  • Achromatopsia 42 tests
  • Acid-labile subunit deficiency1 test
  • Acidosis1 test
  • Acne7 tests
  • Acne inversa, familial, 21 test
  • Acne inversa, familial, 34 tests
  • Acquired hemoglobin H disease8 tests
  • Acquired long QT syndrome2 tests
  • Acquired partial lipodystrophy1 test
  • Acrocallosal syndrome, Schinzel type6 tests
  • Acrocapitofemoral dysplasia2 tests
  • Acrocephalosyndactyly type I6 tests
  • Acrocyanosis11 tests
  • Acrodysostosis8 tests
  • Acrodysostosis 2, with or without hormone resistance2 tests
  • Acroerythrokeratoderma1 test
  • Acrofacial dysostosis, Cincinnati type1 test
  • Acrokeratosis1 test
  • Acrokeratosis verruciformis of Hopf3 tests
  • Acromesomelic dysplasia Hunter Thompson type2 tests
  • Acromesomelic dysplasia Maroteaux type2 tests
  • Acromicric dysplasia7 tests
  • ACTH deficiency1 test
  • ACTH resistance1 test
  • Action tremor1 test
  • ACTN3 deficiency1 test
  • Acute alcohol sensitivity2 tests
  • Acute encephalopathy3 tests
  • Acute febrile mucocutaneous lymph node syndrome1 test
  • Acute hepatic failure2 tests
  • Acute hepatitis1 test
  • Acute intermittent porphyria3 tests
  • Acute kidney injury1 test
  • Acute leukemia20 tests
  • Acute lymphoblastic leukemia11 tests
  • Acute lymphoid leukemia4 tests
  • Acute monocytic leukemia3 tests
  • Acute myeloid leukemia37 tests
  • Acute myelomonocytic leukemia1 test
  • Acute necrotizing encephalopathy1 test
  • Acute neuronopathic Gaucher's disease4 tests
  • Acute promyelocytic leukemia2 tests
  • Acyl-CoA dehydrogenase family, member 9, deficiency of4 tests
  • Adactyly4 tests
  • Adams-Oliver syndrome2 tests
  • Adams-Oliver syndrome 12 tests
  • Adams-Oliver syndrome 21 test
  • Adducted thumb15 tests
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adenocarcinoma15 tests
  • Adenocarcinoma of lung2 tests
  • Adenoma sebaceum20 tests
  • Adenomatous colonic polyposis8 tests
  • Adenomatous polyposis coli, attenuated6 tests
  • Adenosine triphosphate, elevated, of erythrocytes2 tests
  • Adenylate kinase deficiency, hemolytic anemia due to1 test
  • Adenylosuccinate lyase deficiency9 tests
  • Adermatoglyphia1 test
  • Adolescent alopeciam dentogingival abnormalitites and intellectual disability1 test
  • Adolescent nephronophthisis9 tests
  • Adrenal hypoplasia4 tests
  • Adrenal insufficiency2 tests
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete2 tests
  • Adrenal medullary hypoplasia1 test
  • Adrenal pheochromocytoma4 tests
  • Adrenocortical adenoma7 tests
  • Adrenocortical carcinoma15 tests
  • Adrenocortical carcinoma, hereditary9 tests
  • Adrenocortical carcinoma, pediatric14 tests
  • Adrenocortical cytomegaly4 tests
  • Adrenoleukodystrophy7 tests
  • Adult hypophosphatasia2 tests
  • Adult junctional epidermolysis bullosa6 tests
  • Adult neuronal ceroid lipofuscinosis7 tests
  • Adult onset ataxia with oculomotor apraxia5 tests
  • Adult proximal spinal muscular atrophy, autosomal dominant2 tests
  • ADULT syndrome3 tests
  • Advanced eruption of teeth1 test
  • Advanced sleep phase syndrome, familial, 21 test
  • Afibrinogenemia3 tests
  • Agammaglobulinemia1 test
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 5, autosomal dominant1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Aganglionic megacolon32 tests
  • Age-related macular degeneration 15 tests
  • Age-related macular degeneration 102 tests
  • Age-related macular degeneration 112 tests
  • Age-related macular degeneration 122 tests
  • Age-related macular degeneration 131 test
  • Age-related macular degeneration 142 tests
  • Age-related macular degeneration 25 tests
  • Age-related macular degeneration 36 tests
  • Age-related macular degeneration 43 tests
  • Age-related macular degeneration 55 tests
  • Age-related macular degeneration 64 tests
  • Age-related macular degeneration 73 tests
  • Age-related macular degeneration 82 tests
  • Age-related macular degeneration 92 tests
  • Agenesis of cerebellar vermis3 tests
  • Agenesis of corpus callosum26 tests
  • Agenesis of incisor1 test
  • Agenesis of mandibular central incisor1 test
  • Agenesis of maxillary lateral incisor3 tests
  • Agenesis of permanent teeth5 tests
  • Aggressive behavior16 tests
  • Agitation9 tests
  • Agnosia15 tests
  • AICAR transformylase/IMP cyclohydrolase deficiency4 tests
  • Aicardi Goutieres syndrome4 tests
  • Aicardi Goutieres syndrome 14 tests
  • Aicardi Goutieres syndrome 23 tests
  • Aicardi Goutieres syndrome 33 tests
  • Aicardi Goutieres syndrome 43 tests
  • Aicardi Goutieres syndrome 54 tests
  • Aicardi-goutieres syndrome 62 tests
  • Aicardi-goutieres syndrome 71 test
  • AIP-Related Familial Isolated Pituitary Adenomas1 test
  • Akinesia1 test
  • Alacrima2 tests
  • Alacrima, achalasia, and mental retardation syndrome1 test
  • Alagille syndrome 16 tests
  • Alagille syndrome 24 tests
  • Alazami syndrome1 test
  • Albinism5 tests
  • Albinism, ocular, with sensorineural deafness8 tests
  • Albinism, oculocutaneous, type VII1 test
  • Albuminuria1 test
  • Alcohol dependence6 tests
  • Aldehyde oxidase deficiency1 test
  • Aldosterone Producing Adrenal Cortex Adenoma2 tests
  • Alexander's disease5 tests
  • Alkalosis1 test
  • Alkaptonuria1 test
  • all trans retinoic acid (ATRA) response1 test
  • Allan-Herndon-Dudley syndrome4 tests
  • Allergic rhinitis2 tests
  • Almond-shaped palpebral fissure1 test
  • Alopecia21 tests
  • Alopecia areata2 tests
  • Alopecia universalis congenita1 test
  • Alopecia, neurologic defects, and endocrinopathy syndrome1 test
  • Alpers encephalopathy1 test
  • alpha Thalassemia2 tests
  • Alpha-1-antitrypsin deficiency8 tests
  • Alpha-2-macroglobulin deficiency2 tests
  • Alpha-B crystallinopathy4 tests
  • Alpha-fetoprotein deficiency1 test
  • Alpha-fetoprotein, hereditary persistence of1 test
  • Alpha-methylacyl-CoA racemase deficiency2 tests
  • Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1 test
  • Alport syndrome, autosomal dominant2 tests
  • Alport syndrome, autosomal recessive3 tests
  • Alport syndrome, X-linked recessive2 tests
  • Alstrom syndrome3 tests
  • Alternating esotropia1 test
  • Alternating hemiplegia of childhood7 tests
  • Alternating hemiplegia of childhood 24 tests
  • Alveolar capillary dysplasia with misalignment of pulmonary veins3 tests
  • Alveolar cell carcinoma4 tests
  • Alveolar ridge overgrowth2 tests
  • Alveolar soft part sarcoma1 test
  • Alzheimer disease1 test
  • Alzheimer disease 181 test
  • Alzheimer disease 26 tests
  • Alzheimer disease, type 37 tests
  • Alzheimer disease, type 48 tests
  • Alzheimer's disease17 tests
  • Amaurosis fugax20 tests
  • Ambiguous genitalia14 tests
  • Ambiguous genitalia, female2 tests
  • Ambiguous genitalia, male2 tests
  • Amblyopia13 tests
  • Amegakaryocytic thrombocytopenia2 tests
  • Amelogenesis imperfecta8 tests
  • Amelogenesis imperfecta - hypoplastic autosomal dominant - local2 tests
  • Amelogenesis imperfecta, hypocalcification type2 tests
  • Amelogenesis imperfecta, hypomaturation type IIA41 test
  • Amelogenesis imperfecta, hypomaturation type IIA51 test
  • Amelogenesis imperfecta, hypomaturation type, IIA12 tests
  • Amelogenesis imperfecta, hypomaturation type, IIA22 tests
  • Amelogenesis imperfecta, hypomaturation type, IIA32 tests
  • Amelogenesis imperfecta, type 1E1 test
  • Amelogenesis imperfecta, type IC2 tests
  • Amelogenesis imperfecta, type IV3 tests
  • Amenorrhea1 test
  • Aminoaciduria14 tests
  • Aminoacylase 1 deficiency7 tests
  • Aminoglycoside-induced deafness5 tests
  • Amish infantile epilepsy syndrome4 tests
  • Amish lethal microcephaly5 tests
  • Amyloidogenic transthyretin amyloidosis7 tests
  • Amyloidosis, primary localized cutaneous, 21 test
  • Amyotrophic lateral sclerosis5 tests
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia3 tests
  • Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia2 tests
  • Amyotrophic lateral sclerosis 16, juvenile2 tests
  • Amyotrophic lateral sclerosis 172 tests
  • Amyotrophic lateral sclerosis 182 tests
  • Amyotrophic lateral sclerosis 191 test
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia 13 tests
  • Amyotrophic lateral sclerosis type 17 tests
  • Amyotrophic lateral sclerosis type 102 tests
  • Amyotrophic lateral sclerosis type 114 tests
  • Amyotrophic lateral sclerosis type 124 tests
  • Amyotrophic lateral sclerosis type 22 tests
  • Amyotrophic lateral sclerosis type 43 tests
  • Amyotrophic lateral sclerosis type 62 tests
  • Amyotrophic lateral sclerosis type 82 tests
  • Amyotrophic lateral sclerosis type 92 tests
  • Amyotrophic lateral sclerosis-parkinsonism/dementia complex 12 tests
  • Amyotrophy, hereditary neuralgic1 test
  • Anal atresia19 tests
  • Anal stenosis8 tests
  • Analbuminemia1 test
  • Anaphylotoxin inactivator deficiency1 test
  • Anarthria1 test
  • Anauxetic dysplasia 12 tests
  • Andermann syndrome2 tests
  • Andersen Tawil syndrome8 tests
  • Androgen insufficiency1 test
  • Androgen resistance syndrome2 tests
  • Anemia43 tests
  • Anemia sideroblastic and spinocerebellar ataxia2 tests
  • Anemia without thromobocytopenia, X-linked2 tests
  • ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency1 test
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive3 tests
  • Anemic pallor3 tests
  • Anencephaly3 tests
  • Aneurysm9 tests
  • Angelman syndrome15 tests
  • Angioedema induced by ACE inhibitors, susceptibility to1 test
  • Angioid streaks of the retina10 tests
  • Angiokeratoma9 tests
  • Angiokeratoma corporis diffusum1 test
  • Angiomatoid fibrous histiocytoma1 test
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps5 tests
  • Angular cheilitis1 test
  • Anhaptoglobinemia1 test
  • Anhidrosis, familial generalized, with abnormal or absent sweat glands1 test
  • Aniridia2 tests
  • Aniridia 110 tests
  • Aniridia, cerebellar ataxia, and mental retardation7 tests
  • Anisocoria2 tests
  • Anisocytosis1 test
  • Anisopoikilocytosis2 tests
  • Ankle clonus2 tests
  • Ankle contracture2 tests
  • ANKRD1-related dilated cardiomyopathy1 test
  • Ankyloglossia2 tests
  • Ankylosing spondylitis1 test
  • Annular pancreas3 tests
  • Anodontia1 test
  • Anomalous pulmonary venous return2 tests
  • Anomalous splenoportal venous system2 tests
  • Anonychia19 tests
  • Anoperineal fistula1 test
  • Anophthalmia3 tests
  • Anophthalmia/Microphthalmia1 test
  • Anophthalmos with limb anomalies1 test
  • Anorexia9 tests
  • Anorexia nervosa 12 tests
  • Anosmia6 tests
  • Antegonial notching of mandible1 test
  • Antenatal intracerebral hemorrhage1 test
  • Anterior beaking of lower thoracic vertebrae1 test
  • Anterior beaking of lumbar vertebrae1 test
  • Anterior beaking of thoracic vertebrae1 test
  • Anterior concavity of thoracic vertebrae1 test
  • Anterior creases of earlobe6 tests
  • Anterior hypopituitarism11 tests
  • Anterior open bite1 test
  • Anterior open-bite malocclusion3 tests
  • Anterior pituitary agenesis1 test
  • Anterior pituitary hypoplasia1 test
  • Anterior rib cupping2 tests
  • Anterior rib punctate calcifications1 test
  • Anterior sacral meningocele1 test
  • Anterior segment dysgenesis 71 test
  • Anterior segment mesenchymal dysgenesis4 tests
  • Anterior wedging of L11 test
  • Anterior wedging of L21 test
  • Anteriorly placed anus5 tests
  • Anteriorly placed odontoid process1 test
  • Anteverted ears3 tests
  • Anteverted nares51 tests
  • Anti-plasmin deficiency, congenital1 test
  • Antigen in Cartwright blood group system2 tests
  • Antigen in Scianna blood group system1 test
  • Antinuclear antibody positivity2 tests
  • Antiphospholipid antibody positivity3 tests
  • Antithrombin III deficiency1 test
  • Antithrombin, familial hemorrhagic diathesis due to1 test
  • Antley-Bixler syndrome5 tests
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Anxiety16 tests
  • Aortic aneurysm4 tests
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 62 tests
  • Aortic aneurysm, familial thoracic 72 tests
  • Aortic dilatation13 tests
  • Aortic regurgitation1 test
  • Aortic root dilatation1 test
  • Aortic valve disease 21 test
  • Aortic valve disorder2 tests
  • Aortic valve stenosis11 tests
  • Apathy2 tests
  • Aphakia, congenital primary1 test
  • Aphalangy of the hands2 tests
  • Aphasia5 tests
  • Aplasia cutis congenita2 tests
  • Aplasia cutis congenita over the scalp vertex1 test
  • Aplasia of metacarpal bones2 tests
  • Aplasia of the epiglottis1 test
  • Aplasia of the middle phalanx of the hand1 test
  • Aplasia of the nose1 test
  • Aplasia of the ovary2 tests
  • Aplasia of the parotid gland1 test
  • Aplasia/Hypoplasia affecting the eye25 tests
  • Aplasia/Hypoplasia involving the central nervous system2 tests
  • Aplasia/Hypoplasia involving the nose5 tests
  • Aplasia/Hypoplasia of the abdominal wall musculature19 tests
  • Aplasia/Hypoplasia of the cerebellar vermis1 test
  • Aplasia/Hypoplasia of the cerebellum38 tests
  • Aplasia/Hypoplasia of the corpus callosum26 tests
  • Aplasia/Hypoplasia of the distal phalanges of the toes3 tests
  • Aplasia/Hypoplasia of the earlobes10 tests
  • Aplasia/hypoplasia of the extremities1 test
  • Aplasia/Hypoplasia of the eyebrow12 tests
  • Aplasia/Hypoplasia of the hallux1 test
  • Aplasia/Hypoplasia of the iris15 tests
  • Aplasia/Hypoplasia of the lens1 test
  • Aplasia/Hypoplasia of the lungs13 tests
  • Aplasia/Hypoplasia of the middle phalanx of the 2nd finger1 test
  • Aplasia/Hypoplasia of the middle phalanx of the 5th finger1 test
  • Aplasia/Hypoplasia of the nipples3 tests
  • Aplasia/Hypoplasia of the pancreas1 test
  • Aplasia/Hypoplasia of the patella2 tests
  • Aplasia/Hypoplasia of the pubic bone1 test
  • Aplasia/Hypoplasia of the radius14 tests
  • Aplasia/Hypoplasia of the sacrum3 tests
  • Aplasia/Hypoplasia of the skin14 tests
  • Aplasia/Hypoplasia of the thumb6 tests
  • Aplasia/Hypoplasia of the thymus13 tests
  • Aplasia/Hypoplasia of the tongue2 tests
  • Aplasia/Hypoplasia of the uvula9 tests
  • Aplastic anemia13 tests
  • Aplastic/hypoplastic toenail10 tests
  • Apnea25 tests
  • Apneic episodes in infancy1 test
  • Apneic episodes precipitated by illness, fatigue, stress1 test
  • Apocrine gland secretion, variation in1 test
  • Apolipoprotein C2 deficiency1 test
  • Apparent mineralocorticoid excess1 test
  • appendicular lean mass relative to body height1 test
  • Apraxia5 tests
  • Aqueductal stenosis16 tests
  • Arachnodactyly10 tests
  • Arachnoid cyst3 tests
  • Areflexia22 tests
  • Arginase deficiency5 tests
  • Arginine:glycine amidinotransferase deficiency5 tests
  • Argininosuccinate lyase deficiency1 test
  • Arnold-Chiari malformation3 tests
  • Arnold-Chiari type I malformation5 tests
  • Aromatase deficiency1 test
  • Arrhythmia40 tests
  • Arrhythmogenic right ventricular cardiomyopathy4 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 106 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 116 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 125 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 56 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 87 tests
  • Arrhythmogenic right ventricular cardiomyopathy, type 96 tests
  • Arrhythmogenic right ventricular dysplasia, familial 15 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 131 test
  • Arrhythmogenic right ventricular dysplasia, familial, 29 tests
  • Arterial calcification of infancy2 tests
  • Arterial thrombosis15 tests
  • Arterial tortuosity syndrome2 tests
  • Arteriovenous malformation16 tests
  • Arthralgia24 tests
  • Arthritis25 tests
  • Arthrogryposis multiplex congenita22 tests
  • Arthrogryposis multiplex congenita distal type 15 tests
  • Arthrogryposis multiplex congenita, distal, X-linked1 test
  • Arthrogryposis renal dysfunction cholestasis syndrome1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 21 test
  • Arthropathy1 test
  • Arts syndrome4 tests
  • Arylsulfatase A pseudodeficiency1 test
  • Ascending aortic aneurysm1 test
  • Ascites23 tests
  • Aseptic necrosis5 tests
  • Asparagine synthetase deficiency2 tests
  • Aspartate aminotransferase, serum level of, quantitative trait locus 11 test
  • Aspartylglucosaminuria1 test
  • Aspartylglucosaminuria, finnish type1 test
  • Aspartylglycosaminuria4 tests
  • Asperger syndrome X-linked 14 tests
  • Asperger syndrome X-linked 23 tests
  • Aspergillosis, susceptibility to1 test
  • Asphyxiating thoracic dystrophy 24 tests
  • Asphyxiating thoracic dystrophy 44 tests
  • Asphyxiating thoracic dystrophy 52 tests
  • Aspiration1 test
  • Aspiration pneumonia1 test
  • Asplenia2 tests
  • Asplenia, isolated congenital2 tests
  • Asthma11 tests
  • Asthma, nasal polyps, and aspirin intolerance2 tests
  • Asthma, susceptibility to12 tests
  • Asthma-related traits, susceptibility to, 11 test
  • Asthma-related traits, susceptibility to, 21 test
  • Asthma-related traits, susceptibility to, 51 test
  • Asthma-related traits, susceptibility to, 71 test
  • Astigmatism17 tests
  • Astrocytoma18 tests
  • Astrocytosis7 tests
  • Asymmetric growth8 tests
  • Asymmetric septal hypertrophy1 test
  • Asymmetry of the thorax2 tests
  • Asymptomatic hyperammonemia1 test
  • Ataxia48 tests
  • Ataxia with vitamin E deficiency2 tests
  • Ataxia, sensory, autosomal dominant1 test
  • Ataxia, spastic, 3, autosomal recessive1 test
  • Ataxia, spastic, 4, autosomal recessive2 tests
  • Ataxia-oculomotor apraxia 31 test
  • Ataxia-telangiectasia syndrome11 tests
  • Ataxia-telangiectasia-like disorder 17 tests
  • Atelectasis13 tests
  • Ateleiotic dwarfism11 tests
  • Atelosteogenesis type 12 tests
  • Atelosteogenesis type 23 tests
  • Atelosteogenesis type 32 tests
  • Athabaskan brainstem dysgenesis2 tests
  • Atherosclerosis1 test
  • Athetosis7 tests
  • Atlantoaxial dislocation1 test
  • Atonic seizures5 tests
  • ATR-X syndrome8 tests
  • Atransferrinemia1 test
  • Atresia of the external auditory canal5 tests
  • Atrial fibrillation8 tests
  • Atrial fibrillation, familial, 1010 tests
  • Atrial fibrillation, familial, 115 tests
  • Atrial fibrillation, familial, 126 tests
  • Atrial fibrillation, familial, 132 tests
  • Atrial fibrillation, familial, 142 tests
  • Atrial fibrillation, familial, 151 test
  • Atrial fibrillation, familial, 310 tests
  • Atrial fibrillation, familial, 47 tests
  • Atrial fibrillation, familial, 65 tests
  • Atrial fibrillation, familial, 75 tests
  • Atrial fibrillation, familial, 98 tests
  • Atrial flutter4 tests
  • Atrial myxoma, familial8 tests
  • Atrial septal aneurysm1 test
  • Atrial septal defect1 test
  • Atrial septal defect34 tests
  • Atrial septal defect 23 tests
  • Atrial septal defect 34 tests
  • Atrial septal defect 41 test
  • Atrial septal defect 55 tests
  • Atrial septal defect 61 test
  • Atrial septal defect 7 with or without atrioventricular conduction defects6 tests
  • Atrial septal defect 81 test
  • Atrial septal defect 93 tests
  • Atrial standstill 11 test
  • Atrial standstill 21 test
  • Atrichia with papular lesions1 test
  • Atrioventricular block2 tests
  • Atrioventricular canal defect3 tests
  • Atrioventricular septal defect3 tests
  • Atrioventricular septal defect 21 test
  • Atrioventricular septal defect 43 tests
  • Atrioventricular septal defect 53 tests
  • Atrioventricular septal defect and common atrioventricular junction2 tests
  • Atrophia bulborum hereditaria5 tests
  • Atrophoderma vermiculatum1 test
  • Atrophy/Degeneration involving the spinal cord3 tests
  • Attention deficit hyperactivity disorder25 tests
  • Attention deficit-hyperactivity disorder 74 tests
  • Attenuated FAP1 test
  • Attenuation of retinal blood vessels1 test
  • Atypical hemolytic uremic syndrome2 tests
  • Atypical hemolytic-uremic syndrome 13 tests
  • Atypical hemolytic-uremic syndrome 21 test
  • Atypical hemolytic-uremic syndrome 32 tests
  • Atypical hemolytic-uremic syndrome 42 tests
  • Atypical hemolytic-uremic syndrome 52 tests
  • Atypical hemolytic-uremic syndrome 61 test
  • Atypical mycobacteriosis, familial, X-linked 22 tests
  • Atypical nevi in non-sun exposed areas8 tests
  • Atypical nevus8 tests
  • Atypical Rett syndrome4 tests
  • Atypical scarring of skin12 tests
  • Auditory auras4 tests
  • Auditory hallucinations4 tests
  • Auditory neuropathy, autosomal dominant, 11 test
  • Aural atresia, congenital1 test
  • Auriculocondylar syndrome1 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 31 test
  • Autism 155 tests
  • Autism 162 tests
  • Autism 173 tests
  • Autism 93 tests
  • Autism spectrum disorders31 tests
  • Autism, susceptibility to, 182 tests
  • Autism, susceptibility to, 191 test
  • Autism, susceptibility to, X-linked 14 tests
  • Autism, susceptibility to, X-linked 23 tests
  • Autism, susceptibility to, X-linked 38 tests
  • Autism, susceptibility to, X-linked 42 tests
  • Autism, susceptibility to, X-linked 53 tests
  • Autistic behavior7 tests
  • Autistic disorder of childhood onset9 tests
  • Autistic spectrum disorder with isolated skills1 test
  • Autoimmune disease 11 test
  • Autoimmune disease 61 test
  • Autoimmune disease, syndromic multisystem1 test
  • Autoimmune hemolytic anemia8 tests
  • Autoimmune lymphoproliferative syndrome2 tests
  • Autoimmune lymphoproliferative syndrome, type 21 test
  • Autoimmune thrombocytopenia3 tests
  • Autoimmune thyroid disease 32 tests
  • Autoimmunity14 tests
  • Autoinflammation with infantile enterocolitis1 test
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
  • Autophagic vacuoles1 test
  • Autosomal dominant hypocalcemia3 tests
  • Autosomal dominant hypohidrotic ectodermal dysplasia3 tests
  • Autosomal dominant hypophosphatemic rickets2 tests
  • Autosomal dominant inheritance157 tests
  • Autosomal dominant isolated somatotropin deficiency1 test
  • Autosomal dominant nocturnal frontal lobe epilepsy5 tests
  • Autosomal dominant optic atrophy plus syndrome5 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 19 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 26 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 39 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 48 tests
  • Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 57 tests
  • Autosomal recessive centronuclear myopathy2 tests
  • Autosomal recessive congenital ichthyosis 101 test
  • Autosomal recessive congenital ichthyosis 22 tests
  • Autosomal recessive congenital ichthyosis 31 test
  • Autosomal recessive congenital ichthyosis 4A1 test
  • Autosomal recessive congenital ichthyosis 4B1 test
  • Autosomal recessive congenital ichthyosis 61 test
  • Autosomal recessive congenital ichthyosis 81 test
  • Autosomal recessive cutis laxa type 1B3 tests
  • Autosomal recessive cutis laxa type 2B4 tests
  • Autosomal recessive cutis laxa type 3B4 tests
  • Autosomal recessive cutis laxa type IA11 tests
  • Autosomal recessive hypohidrotic ectodermal dysplasia syndrome3 tests
  • Autosomal recessive hypophosphatemic bone disease2 tests
  • Autosomal recessive hypophosphatemic vitamin D refractory rickets2 tests
  • Autosomal recessive polycystic kidney disease4 tests
  • Avascular necrosis of the capital femoral epiphysis1 test
  • Avascular necrosis of the head of femur8 tests
  • Avellino corneal dystrophy1 test
  • Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities3 tests
  • Axenfeld-Rieger syndrome type 14 tests
  • Axenfeld-Rieger syndrome type 23 tests
  • Axenfeld-Rieger syndrome type 34 tests
  • Axial muscle weakness2 tests
  • Axillary freckling14 tests
  • Axonal degeneration1 test
  • Axonal degeneration/regeneration1 test
  • Axonal loss1 test
  • Axonal regeneration2 tests
  • Azoospermia7 tests
  • Azorean disease6 tests
  • B lymphocytopenia6 tests
  • B-cell expansion with NFKB and T-cell anergy1 test
  • B-cell lymphoma1 test
  • B-cell non-Hodgkin lymphoma6 tests
  • Babinski sign24 tests
  • Back pain1 test
  • Bacteremia, susceptibility to, 11 test
  • Bacteremia, susceptibility to, 21 test
  • Bacterial endocarditis4 tests
  • Bainbridge-Ropers syndrome1 test
  • Baller-Gerold syndrome5 tests
  • Bamforth syndrome1 test
  • Band keratopathy1 test
  • Band-like calcification with simplified gyration and polymicrogyria1 test
  • Bannayan-Riley-Ruvalcaba syndrome18 tests
  • Baraitser-Winter syndrome 13 tests
  • Baraitser-Winter Syndrome 23 tests
  • Barakat syndrome2 tests
  • Bardet-Biedl syndrome41 tests
  • Bardet-Biedl syndrome 111 test
  • Bare lymphocyte syndrome type 14 tests
  • Barrel-shaped chest7 tests
  • Barrett's esophagus3 tests
  • Bartter syndrome type 33 tests
  • Bartter syndrome type 44 tests
  • Bartter syndrome, type 1, antenatal1 test
  • Bartter syndrome, type 2, antenatal2 tests
  • Bartter syndrome, type 4b4 tests
  • Bartter's syndrome1 test
  • Basal cell carcinoma13 tests
  • Basal cell carcinoma, multiple13 tests
  • Basal cell carcinoma, susceptibility to, 78 tests
  • Basal ganglia calcification7 tests
  • Basal ganglia cysts1 test
  • Basal ganglia disease, biotin-responsive5 tests
  • Basal ganglia gliosis1 test
  • Basal laminar drusen2 tests
  • Basilar impression1 test
  • BCHE, fluoride 21 test
  • Beaded hair2 tests
  • Beaking of vertebral bodies1 test
  • Beaking of vertebral bodies T12-L31 test
  • Beaulieu-Boycott-Innes syndrome1 test
  • Becker muscular dystrophy8 tests
  • Beckwith-Wiedemann syndrome21 tests
  • Behavioral abnormality20 tests
  • Bell-shaped thorax8 tests
  • Benign familial hematuria2 tests
  • Benign familial neonatal seizures4 tests
  • Benign familial neonatal seizures 15 tests
  • Benign familial neonatal seizures 23 tests
  • Benign familial neonatal-infantile seizures8 tests
  • Benign gastrointestinal tract tumors11 tests
  • Benign genitourinary tract neoplasm11 tests
  • Benign hereditary chorea1 test
  • Benign neoplasm of the central nervous system14 tests
  • Benign recurrent intrahepatic cholestasis 22 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy15 tests
  • Bent bone dysplasia syndrome4 tests
  • Benzene toxicity, susceptibility to1 test
  • Berger disease1 test
  • Bernard Soulier syndrome4 tests
  • Bernard-Soulier syndrome, type A1 test
  • Bernard-Soulier syndrome, type A2, autosomal dominant3 tests
  • Bestrophinopathy, autosomal recessive5 tests
  • beta Thalassemia1 test
  • Beta-cell dysfunction1 test
  • Beta-D-mannosidosis3 tests
  • Beta-hexosaminidase a, pseudodeficiency of1 test
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency2 tests
  • Beta-thalassemia, dominant inclusion body type1 test
  • Bethlem myopathy 15 tests
  • Biconcave vertebral bodies2 tests
  • Bicornuate uterus6 tests
  • Bicoronal synostosis2 tests
  • Bicuspid aortic valve5 tests
  • Bietti crystalline corneoretinal dystrophy2 tests
  • Bifid epiglottis1 test
  • Bifid nasal tip1 test
  • Bifid nose with or without anorectal and renal anomalies1 test
  • Bifid ribs4 tests
  • Bifid scrotum6 tests
  • Bifid tongue5 tests
  • Bifid uvula8 tests
  • Bifunctional peroxisomal enzyme deficiency3 tests
  • Bilateral Breast Carcinoma6 tests
  • Bilateral choanal atresia/stenosis1 test
  • Bilateral cleft lip and palate4 tests
  • Bilateral cryptorchidism1 test
  • Bilateral microphthalmos4 tests
  • Bilateral right-sidedness sequence2 tests
  • Bilateral sensorineural hearing impairment9 tests
  • Bilateral squint1 test
  • Bilateral triphalangeal thumbs1 test
  • Bilateral undescended testicles1 test
  • Bilateral vestibular Schwannoma2 tests
  • Bile acid malabsorption, primary1 test
  • Bile acid synthesis defect, congenital, 11 test
  • Bile acid synthesis defect, congenital, 22 tests
  • Bile acid synthesis defect, congenital, 32 tests
  • Bile acid synthesis defect, congenital, 42 tests
  • Bile duct proliferation4 tests
  • Biliary atresia2 tests
  • Biliary cirrhosis2 tests
  • Biliary tract abnormality12 tests
  • Biliary tract neoplasm15 tests
  • Bilirubin, serum level of, quantitative trait locus 11 test
  • Bimanual synkinesia3 tests
  • Biotinidase deficiency5 tests
  • Biparietal narrowing8 tests
  • Bipartite calcaneus1 test
  • Biphenotypic acute leukaemia1 test
  • Bipolar affective disorder1 test
  • Birbeck granule deficiency1 test
  • Birk Barel mental retardation dysmorphism syndrome2 tests
  • Birt-Hogg-Dub syndrome2 tests
  • Birth length greater than 97th percentile11 tests
  • Bladder carcinoma7 tests
  • Blau syndrome1 test
  • Bleeding disorder platelet type macrothrombocytopenia1 test
  • Blepharitis2 tests
  • Blepharophimosis28 tests
  • Blepharophimosis syndrome type 11 test
  • Blepharophimosis, ptosis, and epicanthus inversus2 tests
  • Blepharospasm6 tests
  • Blindness7 tests
  • Blood group, Dombrock system1 test
  • Blood group, globoside system1 test
  • Blood group, Junior system1 test
  • BLOOD GROUP--DIEGO SYSTEM1 test
  • BLOOD GROUP--FROESE1 test
  • BLOOD GROUP--KIDD SYSTEM1 test
  • BLOOD GROUP--LUTHERAN INHIBITOR1 test
  • BLOOD GROUP--LUTHERAN SYSTEM1 test
  • BLOOD GROUP--OK1 test
  • BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE1 test
  • BLOOD GROUP--SWANN SYSTEM1 test
  • BLOOD GROUP--WALDNER TYPE1 test
  • BLOOD GROUP--WRIGHT ANTIGEN1 test
  • Bloom syndrome6 tests
  • Blue irides10 tests
  • Blue sclerae8 tests
  • Blurred vision4 tests
  • Body mass index quantitative trait locus 101 test
  • Body mass index quantitative trait locus 111 test
  • Body mass index quantitative trait locus 122 tests
  • Body mass index quantitative trait locus 43 tests
  • Body mass index quantitative trait locus 91 test
  • Bombay phenotype1 test
  • Bone cyst15 tests
  • Bone fragility with contractures, arterial rupture, and deafness1 test
  • Bone marrow failure syndrome 11 test
  • Bone marrow hypocellularity16 tests
  • Bone mineral density quantitative trait locus 14 tests
  • Bone pain6 tests
  • Bone spicule pigmentation of the retina2 tests
  • Bone-marrow foam cells1 test
  • Boomerang dysplasia2 tests
  • Borjeson-Forssman-Lehmann syndrome6 tests
  • Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
  • Bothnia retinal dystrophy4 tests
  • Boucher Neuhauser syndrome1 test
  • Bowel incontinence9 tests
  • Bowen-Conradi syndrome1 test
  • Bowing of the legs2 tests
  • Bowing of the long bones7 tests
  • Brachial plexus neuropathy1 test
  • Brachycephaly22 tests
  • Brachydactyly1 test
  • Brachydactyly syndrome50 tests
  • Brachydactyly type A12 tests
  • Brachydactyly type A24 tests
  • Brachydactyly type B12 tests
  • Brachydactyly type B22 tests
  • Brachydactyly type C2 tests
  • Brachydactyly type D2 tests
  • Brachydactyly type E12 tests
  • Brachydactyly type E22 tests
  • Brachydactyly, type a1, c2 tests
  • Brachydactyly-Mental Retardation syndrome4 tests
  • Brachydactyly-syndactyly syndrome2 tests
  • Brachyrachia (short spine dysplasia)5 tests
  • Brachyturricephaly3 tests
  • Bradycardia7 tests
  • Bradykinesia7 tests
  • Brain atrophy9 tests
  • Brain malformation1 test
  • Brain small vessel disease with hemorrhage5 tests
  • Brain stem compression1 test
  • Brainstem dysplasia2 tests
  • Branched-chain keto acid dehydrogenase kinase deficiency3 tests
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome2 tests
  • Branchiootic syndrome 32 tests
  • Branchiootorenal syndrome 21 test
  • Breast adenocarcinoma20 tests
  • Breast and colorectal cancer6 tests
  • Breast and/or ovarian cancer8 tests
  • Breast aplasia9 tests
  • Breast cancer 311 tests
  • Breast cancer, 11-22 translocation-associated9 tests
  • Breast cancer, early-onset8 tests
  • Breast cancer, familial male6 tests
  • Breast cancer, lobular6 tests
  • Breast cancer, susceptibility to9 tests
  • Breast carcinoma20 tests
  • Breast hypoplasia1 test
  • Breast-ovarian cancer, familial 114 tests
  • Breast-ovarian cancer, familial 218 tests
  • Breast-ovarian cancer, familial 318 tests
  • Breast-ovarian cancer, familial 418 tests
  • Breasts and/or nipples, aplasia or hypoplasia of, 21 test
  • Breathing dysregulation1 test
  • Breech presentation2 tests
  • Brisk reflexes4 tests
  • Brittle cornea syndrome 22 tests
  • Brittle hair5 tests
  • Broad alveolar ridges6 tests
  • Broad chin3 tests
  • Broad columella4 tests
  • Broad distal phalanx of the thumb1 test
  • Broad eyebrow4 tests
  • Broad face5 tests
  • Broad femoral metaphyses1 test
  • Broad femoral neck2 tests
  • Broad foot9 tests
  • Broad forehead23 tests
  • Broad hallux4 tests
  • Broad hallux phalanx1 test
  • Broad nasal tip13 tests
  • Broad neck2 tests
  • Broad palm7 tests
  • Broad phalanges of the hand1 test
  • Broad phalanx1 test
  • Broad philtrum3 tests
  • Broad ribs5 tests
  • Broad secondary alveolar ridge4 tests
  • Broad skull1 test
  • Broad thumb7 tests
  • Broad toe4 tests
  • Broad-based gait9 tests
  • Brody myopathy1 test
  • Bronchiectasis with or without elevated sweat chloride 128 tests
  • Bronchiectasis with or without elevated sweat chloride 24 tests
  • Bronchiectasis with or without elevated sweat chloride 34 tests
  • Bronchogenic cyst10 tests
  • Bronchomalacia5 tests
  • Brown-Vialetto-Van Laere syndrome1 test
  • Bruck syndrome 11 test
  • Bruck syndrome 22 tests
  • Brugada syndrome8 tests
  • Brugada syndrome 110 tests
  • Brugada syndrome 25 tests
  • Brugada syndrome 38 tests
  • Brugada syndrome 45 tests
  • Brugada syndrome 58 tests
  • Brugada syndrome 65 tests
  • Brugada syndrome 77 tests
  • Brugada syndrome 86 tests
  • Bruising susceptibility14 tests
  • Brushfield spots2 tests
  • Bruxism4 tests
  • Budd-Chiari syndrome4 tests
  • Bulbar palsy4 tests
  • Bulbar signs1 test
  • Bulbo-spinal atrophy X-linked2 tests
  • Bulbous nose9 tests
  • Bulbous tips of toes1 test
  • Bulimia nervosa 16 tests
  • Bulimia nervosa 26 tests
  • Bull's eye macular dystrophy4 tests
  • Bull's eye maculopathy2 tests
  • Bullet-shaped phalanges of the hand1 test
  • Bullous ichthyosiform erythroderma3 tests
  • Bundle branch block5 tests
  • Buphthalmos2 tests
  • Burkitt lymphoma1 test
  • Burn-McKeown syndrome1 test
  • Buruli ulcer, susceptibility to1 test
  • Butterfly vertebrae1 test
  • Butyrylcholinesterase deficiency, fluoride-resistant, japanese type1 test
  • C syndrome1 test
  • C-like syndrome1 test
  • C1-C2 subluxation1 test
  • C1q deficiency3 tests
  • C3HEX, ability to smell1 test
  • Cachexia6 tests
  • Cafe au lait spots, multiple15 tests
  • Cafe-au-lait spot24 tests
  • Café-au-lait macules with pulmonary stenosis14 tests
  • Calcaneovalgus deformity2 tests
  • Calcific stippling of infantile cartilaginous skeleton1 test
  • Calcification of falx cerebri4 tests
  • Calcification of joints and arteries1 test
  • Calcification of the auricular cartilage1 test
  • Calcinosis5 tests
  • Calcium oxalate nephrolithiasis1 test
  • Calcium oxalate urolithiasis3 tests
  • Calf muscle hypertrophy1 test
  • Calvarial hyperostosis5 tests
  • Calvarial skull defect4 tests
  • Camptodactyly14 tests
  • Camptodactyly arthropathy coxa vara pericarditis syndrome2 tests
  • Camptodactyly of finger13 tests
  • Camptodactyly of toe6 tests
  • Camptodactyly, tall stature, and hearing loss syndrome6 tests
  • Camptomelic dysplasia2 tests
  • Canavan disease, mild2 tests
  • Candidiasis, familial, 21 test
  • Candidiasis, familial, 51 test
  • Candidiasis, familial, 61 test
  • Candidiasis, familial, 81 test
  • Capillary malformation-arteriovenous malformation2 tests
  • Capitate-hamate fusion1 test
  • Carbohydrate-deficient glycoprotein syndrome type I4 tests
  • Carbohydrate-deficient glycoprotein syndrome type II4 tests
  • Carcinoid tumor3 tests
  • Carcinoid tumor of intestine12 tests
  • Carcinoma of cervix20 tests
  • Carcinoma of colon25 tests
  • Carcinoma of male breast8 tests
  • Carcinoma of pancreas37 tests
  • Cardiac arrest5 tests
  • Cardiac arrhythmia10 tests
  • Cardiac arrhythmia, ankyrin B-related6 tests
  • Cardiac conduction defect, nonprogressive2 tests
  • Cardiac conduction defect, nonspecific4 tests
  • Cardiac conduction disease with or without dilated cardiomyopathy2 tests
  • Cardiac fibroma4 tests
  • Cardiac rhabdomyoma8 tests
  • Cardiac valvular dysplasia, X-linked7 tests
  • Cardio-facio-cutaneous syndrome15 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency6 tests
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 25 tests
  • Cardiofaciocutaneous syndrome 28 tests
  • Cardiofaciocutaneous syndrome 34 tests
  • Cardiofaciocutaneous syndrome 44 tests
  • Cardiomegaly5 tests
  • Cardiomyopathy21 tests
  • Cardiomyopathy dilated with woolly hair and keratoderma7 tests
  • Cardiomyopathy, dilated15 tests
  • Cardiomyopathy, dilated, 1u4 tests
  • Cardiomyopathy, dilated, 2b3 tests
  • Cardiomyopathy, left ventricular noncompaction1 test
  • Cardiomyopathy, restrictive4 tests
  • Carious teeth22 tests
  • Carnevale syndrome1 test
  • Carney complex4 tests
  • Carney complex variant1 test
  • Carney complex, type 14 tests
  • Carney triad5 tests
  • Carnitine acylcarnitine translocase deficiency4 tests
  • Carnitine palmitoyltransferase I deficiency3 tests
  • Carnitine palmitoyltransferase I deficiency , muscle1 test
  • Carnitine palmitoyltransferase II deficiency1 test
  • Carnitine palmitoyltransferase II deficiency, infantile5 tests
  • Carnitine palmitoyltransferase II deficiency, lethal neonatal6 tests
  • Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced5 tests
  • Carotid body paraganglioma5 tests
  • Carotid intimal medial thickness 12 tests
  • Carpal bone aplasia2 tests
  • Carpal bone hypoplasia1 test
  • Carpal synostosis2 tests
  • Carpal tunnel syndrome7 tests
  • Carpenter syndrome1 test
  • Carpenter syndrome 11 test
  • Caspase-8 deficiency2 tests
  • Cataplexy1 test
  • Cataplexy and narcolepsy3 tests
  • Cataract75 tests
  • Cataract1 test
  • Cataract 11 test
  • Cataract 15, multiple types1 test
  • Cataract 16, multiple types6 tests
  • Cataract 19, multiple types1 test
  • Cataract 20, multiple types1 test
  • Cataract 23, multiple types1 test
  • Cataract 3, multiple types1 test
  • Cataract 30, multiple types1 test
  • Cataract 39, multiple types1 test
  • Cataract 41 test
  • Cataract 403 tests
  • Cataract 412 tests
  • Cataract 6, multiple types1 test
  • Cataract and cardiomyopathy2 tests
  • Cataract, age-related nuclear1 test
  • Cataract, autosomal dominant1 test
  • Cataract, autosomal dominant, multiple types 11 test
  • Cataract, autosomal recessive congenital 21 test
  • Cataract, autosomal recessive congenital 41 test
  • Cataract, autosomal recessive congenital 52 tests
  • Cataract, congenital15 tests
  • Cataract, congenital nuclear, autosomal recessive 21 test
  • Cataract, congenital nuclear, autosomal recessive 31 test
  • Cataract, congenital zonular, with sutural opacities1 test
  • Cataract, coppock-like1 test
  • Cataract, cortical, juvenile-onset1 test
  • Cataract, juvenile, with microcornea and glucosuria1 test
  • Cataract, microphthalmia and nystagmus1 test
  • Cataract, posterior polar, 31 test
  • Cataract, posterior polar, 42 tests
  • Cataract, pulverulent, juvenile-onset1 test
  • Cataract, zonular1 test
  • Catecholaminergic polymorphic ventricular tachycardia17 tests
  • Catel Manzke syndrome1 test
  • CATSPER-Related Male Infertility3 tests
  • Caudal duplication anomaly1 test
  • Caudal regression syndrome1 test
  • Caudate atrophy1 test
  • Cavernous hemangioma17 tests
  • Cavum septum pellucidum2 tests
  • Cd59 deficiency1 test
  • Cd8 deficiency, familial1 test
  • Celiac disease 31 test
  • Celiac disease 41 test
  • Cellular immunodeficiency12 tests
  • Cellular metachromasia1 test
  • Cellulitis2 tests
  • Central adrenal insufficiency1 test
  • Central apnea3 tests
  • Central core disease4 tests
  • Central hypothyroidism2 tests
  • Central hypotonia5 tests
  • Central hypoventilation8 tests
  • Central nervous system degeneration2 tests
  • Central precocious puberty3 tests
  • Centrally nucleated skeletal muscle fibers2 tests
  • Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency2 tests
  • Cerebellar ataxia infantile with progressive external ophthalmoplegia12 tests
  • Cerebellar ataxia, cayman type1 test
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant5 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 22 tests
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 31 test
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41 test
  • Cerebellar ataxia, nonprogressive, with mental retardation2 tests
  • Cerebellar atrophy40 tests
  • Cerebellar cyst2 tests
  • Cerebellar dysplasia4 tests
  • Cerebellar hemangioblastoma4 tests
  • Cerebellar hemisphere hypoplasia1 test
  • Cerebellar hypoplasia26 tests
  • Cerebellar vermis atrophy5 tests
  • Cerebellar vermis hypoplasia13 tests
  • cerebellar-facial-dental syndrome1 test
  • Cerebellofaciodental syndrome1 test
  • Cerebral amyloid angiopathy, APP-related3 tests
  • Cerebral aneurysm1 test
  • Cerebral arteriovenous malformation5 tests
  • Cerebral atrophy34 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy5 tests
  • Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy3 tests
  • Cerebral calcification17 tests
  • Cerebral cavernous malformation2 tests
  • Cerebral cavernous malformations 22 tests
  • Cerebral cavernous malformations 32 tests
  • Cerebral cortical atrophy25 tests
  • Cerebral cortical neurodegeneration3 tests
  • Cerebral degeneration1 test
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome3 tests
  • Cerebral dysmyelination2 tests
  • Cerebral edema1 test
  • Cerebral folate deficiency10 tests
  • Cerebral hemorrhage6 tests
  • Cerebral hypomyelination5 tests
  • Cerebral hypoplasia3 tests
  • Cerebral ischemia19 tests
  • Cerebral palsy6 tests
  • Cerebral palsy, spastic quadriplegic, 12 tests
  • Cerebral palsy, spastic quadriplegic, 21 test
  • Cerebro-oculo-facio-skeletal syndrome6 tests
  • Cerebrooculofacioskeletal syndrome 26 tests
  • Cerebrooculofacioskeletal syndrome 42 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 13 tests
  • Ceroid lipofuscinosis neuronal 16 tests
  • Ceroid lipofuscinosis neuronal 105 tests
  • Ceroid lipofuscinosis neuronal 25 tests
  • Ceroid lipofuscinosis neuronal 4B autosomal dominant3 tests
  • Ceroid lipofuscinosis neuronal 55 tests
  • Ceroid lipofuscinosis neuronal 65 tests
  • Ceroid lipofuscinosis neuronal 78 tests
  • Ceroid lipofuscinosis neuronal 85 tests
  • Ceroid lipofuscinosis, neuronal, 112 tests
  • Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant5 tests
  • Cervical cord compression1 test
  • Cervical myelopathy2 tests
  • Cervical platyspondyly1 test
  • Cervical ribs4 tests
  • Cervical spinal canal stenosis2 tests
  • Cervical spine hypermobility2 tests
  • Cervical subluxation1 test
  • Cessation of head growth1 test
  • CFHR5 deficiency1 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease13 tests
  • Charcot-Marie-Tooth disease and deafness26 tests
  • Charcot-Marie-Tooth disease dominant intermediate 326 tests
  • Charcot-Marie-Tooth disease type 2B115 tests
  • Charcot-Marie-Tooth disease type 2B23 tests
  • Charcot-Marie-Tooth disease type 2C5 tests
  • Charcot-Marie-Tooth disease type 2D5 tests
  • Charcot-Marie-Tooth disease type 2E3 tests
  • Charcot-Marie-Tooth disease type 2F4 tests
  • Charcot-Marie-Tooth disease type 2H2 tests
  • Charcot-Marie-Tooth disease type 2I5 tests
  • Charcot-Marie-Tooth disease type 2J5 tests
  • Charcot-Marie-Tooth disease type 2K4 tests
  • Charcot-Marie-Tooth disease type 2P3 tests
  • Charcot-Marie-Tooth disease, axonal type2 tests
  • Charcot-Marie-Tooth disease, axonal, type 2b3 tests
  • Charcot-Marie-Tooth disease, axonal, type 2O4 tests
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive4 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1b26 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1d3 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 1f3 tests
  • Charcot-Marie-Tooth disease, demyelinating, type 4f3 tests
  • Charcot-Marie-Tooth disease, dominant intermediate C2 tests
  • Charcot-Marie-Tooth disease, dominant intermediate E2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate A4 tests
  • Charcot-Marie-Tooth disease, recessive intermediate B2 tests
  • Charcot-Marie-Tooth disease, recessive intermediate c2 tests
  • Charcot-Marie-Tooth disease, type 1C3 tests
  • Charcot-Marie-Tooth disease, type 2A16 tests
  • Charcot-Marie-Tooth disease, type 2A2A5 tests
  • Charcot-Marie-Tooth disease, type 2L4 tests
  • Charcot-Marie-Tooth disease, type 2N3 tests
  • Charcot-Marie-Tooth disease, type 4A4 tests
  • Charcot-Marie-Tooth disease, type 4B13 tests
  • Charcot-Marie-Tooth disease, type 4B24 tests
  • Charcot-Marie-Tooth disease, type 4C9 tests
  • Charcot-Marie-Tooth disease, type 4D3 tests
  • Charcot-Marie-Tooth disease, type 4H3 tests
  • Charcot-Marie-Tooth disease, type 4J4 tests
  • Charcot-Marie-Tooth disease, type IA26 tests
  • Charcot-Marie-Tooth disease, X-linked recessive, type 54 tests
  • CHARGE association6 tests
  • Cheilitis2 tests
  • Chemodectoma4 tests
  • Cherry red spot of the macula1 test
  • Chest pain22 tests
  • Chewing difficulties1 test
  • Chilblain lesions2 tests
  • Chilblain lupus 24 tests
  • Chilblain lupus erythematosus3 tests
  • Child syndrome3 tests
  • Childhood hepatocellular carcinoma2 tests
  • Childhood hypophosphatasia2 tests
  • Childhood onset short-limb short stature1 test
  • Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1 test
  • Childhood-Onset Schizophrenia3 tests
  • Childhood-onset truncal obesity2 tests
  • Chin dimple2 tests
  • Chitotriosidase deficiency1 test
  • Choanal atresia16 tests
  • Choanal atresia and lymphedema1 test
  • Choanal stenosis3 tests
  • Cholangitis1 test
  • Cholecystitis2 tests
  • Cholelithiasis2 tests
  • Cholestanol storage disease3 tests
  • Cholestasis10 tests
  • Cholestasis of pregnancy2 tests
  • Cholestasis, benign recurrent intrahepatic 12 tests
  • Cholestasis, intrahepatic, of pregnancy 32 tests
  • Cholestatic liver disease1 test
  • Cholesterol monooxygenase (side-chain cleaving) deficiency2 tests
  • Chondrocalcinosis9 tests
  • Chondrocalcinosis 22 tests
  • Chondrodysplasia acromesomelic with genital anomalies2 tests
  • Chondrodysplasia Blomstrand type2 tests
  • Chondrodysplasia punctata 1, X-linked recessive1 test
  • Chondrodysplasia punctata 2 X-linked dominant3 tests
  • Chondrodysplasia with joint dislocations, GPAPP type1 test
  • Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia1 test
  • Chondroectodermal dysplasia6 tests
  • Chondroitin sulfate excretion in urine1 test
  • Chondrosarcoma5 tests
  • Chops syndrome1 test
  • Chordoma7 tests
  • Chorea15 tests
  • Choreoacanthocytosis3 tests
  • Choreoathetosis14 tests
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress1 test
  • Chorioretinal abnormality7 tests
  • Chorioretinal atrophy2 tests
  • Chorioretinal coloboma6 tests
  • Chorioretinal dysplasia1 test
  • Chorioretinal dystrophy2 tests
  • Choroid plexus carcinoma15 tests
  • Choroid plexus cyst6 tests
  • Choroid plexus papilloma29 tests
  • Choroidal dystrophy, central areolar 24 tests
  • Choroideremia5 tests
  • Christianson syndrome10 tests
  • Chromosomal breakage induced by crosslinking agents8 tests
  • Chromosomal breakage induced by ionizing radiation2 tests
  • Chromosome 16-related alpha-thalassemia/mental retardation syndrome5 tests
  • Chromosome 16p13.3 duplication syndrome2 tests
  • Chromosome 17p13.3, centromeric, duplication syndrome4 tests
  • Chromosome 17q11.2 deletion syndrome, 1.4 MB4 tests
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chromosome 5p13 duplication syndrome4 tests
  • Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb1 test
  • Chromosome 9q deletion syndrome3 tests
  • Chromosome Xq28 deletion syndrome1 test
  • Chromosome Xq28 duplication syndrome4 tests
  • Chronic and progressive ataxia3 tests
  • Chronic atrial and intestinal dysrhythmia1 test
  • Chronic atrophic gastritis4 tests
  • Chronic axonal neuropathy3 tests
  • Chronic bronchitis5 tests
  • Chronic calcifying pancreatitis1 test
  • Chronic CSF lymphocytosis2 tests
  • Chronic diarrhea5 tests
  • Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21 test
  • Chronic granulomatous disease, X-linked2 tests
  • Chronic hepatic failure1 test
  • Chronic infantile neurological, cutaneous and articular syndrome2 tests
  • Chronic kidney disease5 tests
  • Chronic lactic acidosis1 test
  • Chronic lung disease6 tests
  • Chronic mucocutaneous candidiasis1 test
  • Chronic myelogenous leukemia1 test
  • Chronic myeloid leukemia2 tests
  • Chronic obstructive pulmonary disease11 tests
  • Chronic progressive multiple sclerosis1 test
  • Chudley-McCullough syndrome2 tests
  • Chylomicron retention disease1 test
  • Chylothorax1 test
  • Chédiak-Higashi syndrome2 tests
  • Ciliary dyskinesia11 tests
  • Ciliary dyskinesia, primary, 106 tests
  • Ciliary dyskinesia, primary, 114 tests
  • Ciliary dyskinesia, primary, 125 tests
  • Ciliary dyskinesia, primary, 136 tests
  • Ciliary dyskinesia, primary, 146 tests
  • Ciliary dyskinesia, primary, 156 tests
  • Ciliary dyskinesia, primary, 166 tests
  • Ciliary dyskinesia, primary, 171 test
  • Ciliary dyskinesia, primary, 181 test
  • Ciliary dyskinesia, primary, 191 test
  • Ciliary dyskinesia, primary, 23 tests
  • Ciliary dyskinesia, primary, 221 test
  • Ciliary dyskinesia, primary, 36 tests
  • Ciliary dyskinesia, primary, 66 tests
  • Ciliary dyskinesia, primary, 76 tests
  • Ciliary dyskinesia, primary, 96 tests
  • Cirrhosis15 tests
  • Cirrhosis, cryptogenic2 tests
  • Cirrhosis, noncryptogenic, susceptibility to2 tests
  • Citrullinemia type I3 tests
  • Citrullinemia type II4 tests
  • Classic Kaposi sarcoma1 test
  • Classical primary microcephaly1 test
  • Cleft at the superior portion of the pinna1 test
  • Cleft eyelid4 tests
  • Cleft lip/palate-ectodermal dysplasia syndrome1 test
  • Cleft lower alveolar ridge1 test
  • Cleft mandible1 test
  • Cleft palate63 tests
  • Cleft palate X-linked1 test
  • Cleft palate, isolated2 tests
  • Cleft upper lip21 tests
  • Cleidocranial dysostosis2 tests
  • Clinodactyly19 tests
  • Clinodactyly of the 5th finger36 tests
  • Clinodactyly of the 5th toe1 test
  • Clitoral hypertrophy1 test
  • Clitoral hypoplasia1 test
  • Clitoromegaly5 tests
  • Clonus7 tests
  • Cloverleaf skull2 tests
  • Clubbing9 tests
  • Clubbing of fingers7 tests
  • Clubbing of toes10 tests
  • Clumsiness6 tests
  • CNS demyelination6 tests
  • CNS hypomyelination10 tests
  • COACH syndrome14 tests
  • Coarctation of aorta13 tests
  • Coarse facial features24 tests
  • Coarse hair10 tests
  • Coat hanger sign of ribs1 test
  • Cockayne syndrome B5 tests
  • Cockayne syndrome type A4 tests
  • Cocoon syndrome1 test
  • CODAS syndrome1 test
  • Coenzyme Q10 deficiency, primary3 tests
  • Coenzyme Q10 deficiency, primary 16 tests
  • Coenzyme Q10 deficiency, primary, 25 tests
  • Coenzyme Q10 deficiency, primary, 34 tests
  • Coenzyme Q10 deficiency, primary, 43 tests
  • Coenzyme Q10 deficiency, primary, 54 tests
  • Coenzyme Q10 deficiency, primary, 62 tests
  • Coffin Siris/Intellectual Disability1 test
  • Coffin-Lowry syndrome3 tests
  • Coffin-Siris syndrome 15 tests
  • Cognitive impairment106 tests
  • Cognitive impairment with or without cerebellar ataxia7 tests
  • Cogwheel rigidity3 tests
  • Cohen syndrome6 tests
  • Colchicine resistance3 tests
  • Cold-induced sweating syndrome1 test
  • Cold-induced sweating syndrome 11 test
  • Cole disease2 tests
  • Cole-Carpenter syndrome 11 test
  • Colitis2 tests
  • Collapse (finding)4 tests
  • Coloboma14 tests
  • Coloboma of optic disc6 tests
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1 test
  • Colon cancer17 tests
  • Colon Serrated Polyposis1 test
  • Colonic diverticula15 tests
  • Colorectal / endometrial cancer11 tests
  • Colorectal adenoma7 tests
  • Colorectal cancer17 tests
  • Colorectal cancer 12 tests
  • Colorectal cancer 108 tests
  • Colorectal cancer 21 test
  • Colorectal cancer 31 test
  • Colorectal cancer 86 tests
  • Colorectal cancer, hereditary, nonpolyposis, type 11 test
  • Colorectal cancer, susceptibility to, 122 tests
  • Colpocephaly1 test
  • Colton Blood group system1 test
  • Coma5 tests
  • Combined cellular and humoral immune defects with granulomas3 tests
  • Combined d-2- and l-2-hydroxyglutaric aciduria1 test
  • Combined deficiency of factor V and factor VIII, 11 test
  • Combined deficiency of sialidase AND beta galactosidase6 tests
  • Combined immunodeficiency4 tests
  • Combined immunodeficiency, X-linked1 test
  • Combined malonic and methylmalonic aciduria3 tests
  • Combined molybdoflavoprotein enzyme deficiency5 tests
  • Combined oxidative phosphorylation deficiency12 tests
  • Combined oxidative phosphorylation deficiency 14 tests
  • Combined oxidative phosphorylation deficiency 102 tests
  • Combined oxidative phosphorylation deficiency 122 tests
  • Combined oxidative phosphorylation deficiency 142 tests
  • Combined oxidative phosphorylation deficiency 153 tests
  • Combined oxidative phosphorylation deficiency 171 test
  • Combined oxidative phosphorylation deficiency 23 tests
  • Combined oxidative phosphorylation deficiency 33 tests
  • Combined oxidative phosphorylation deficiency 43 tests
  • Combined oxidative phosphorylation deficiency 53 tests
  • Combined oxidative phosphorylation deficiency 63 tests
  • Combined oxidative phosphorylation deficiency 73 tests
  • Combined oxidative phosphorylation deficiency 82 tests
  • Combined oxidative phosphorylation deficiency 93 tests
  • Combined saposin deficiency5 tests
  • Common variable immunodeficiency4 tests
  • Common variable immunodeficiency 11 test
  • Common variable immunodeficiency 111 test
  • Common variable immunodeficiency 24 tests
  • Common variable immunodeficiency 31 test
  • Common variable immunodeficiency 51 test
  • Common variable immunodeficiency 61 test
  • Common variable immunodeficiency 71 test
  • Communicating hydrocephalus11 tests
  • Complement component 2 deficiency2 tests
  • Complement component 3 deficiency, autosomal recessive2 tests
  • Complement component 4, partial deficiency of1 test
  • Complement component 6 deficiency1 test
  • Complement component 7 deficiency1 test
  • Complement component 8 deficiency type 11 test
  • Complement component 8 deficiency type 21 test
  • Complement component 9 deficiency1 test
  • Complement component c1r/c1s deficiency1 test
  • Complement component c1s deficiency1 test
  • Complement factor B deficiency1 test
  • Complement factor d deficiency1 test
  • Complete atrioventricular canal defect2 tests
  • Complete duplication of thumb phalanx3 tests
  • Complete heart block with broad RS complexes2 tests
  • Complete trisomy 21 syndrome2 tests
  • Concave nail5 tests
  • Concave nasal ridge1 test
  • Conduction disorder of the heart13 tests
  • Conductive hearing impairment25 tests
  • Cone dystrophy 36 tests
  • Cone dystrophy 44 tests
  • Cone monochromatism1 test
  • Cone-rod dystrophy21 tests
  • Cone-rod dystrophy 104 tests
  • Cone-rod dystrophy 114 tests
  • Cone-rod dystrophy 124 tests
  • Cone-rod dystrophy 134 tests
  • Cone-rod dystrophy 152 tests
  • Cone-rod dystrophy 162 tests
  • Cone-rod dystrophy 181 test
  • Cone-rod dystrophy 25 tests
  • Cone-rod dystrophy 35 tests
  • Cone-rod dystrophy 53 tests
  • Cone-rod dystrophy 65 tests
  • Cone-rod dystrophy 73 tests
  • Cone-rod dystrophy 93 tests
  • Cone-rod dystrophy amelogenesis imperfecta3 tests
  • Cone-rod dystrophy X-linked 34 tests
  • Cone-rod dystrophy, X-linked 15 tests
  • Cone-shaped epiphyses of the phalanges of the hand6 tests
  • Cone-shaped epiphysis19 tests
  • Cone/cone-rod dystrophy3 tests
  • Confetti-like hypopigmented macules3 tests
  • Confusion4 tests
  • Congenital absence of salivary gland2 tests
  • Congenital adrenal hypoplasia, X-linked2 tests
  • Congenital amegakaryocytic thrombocytopenia5 tests
  • Congenital bilateral absence of the vas deferens6 tests
  • Congenital bilateral perisylvian syndrome3 tests
  • Congenital blindness1 test
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy1 test
  • Congenital cataracts, hearing loss, and neurodegeneration2 tests
  • Congenital central hypoventilation21 tests
  • Congenital cerebellar hypoplasia9 tests
  • Congenital contractural arachnodactyly4 tests
  • Congenital contracture2 tests
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital cystic disease of liver2 tests
  • Congenital defect of folate absorption6 tests
  • Congenital diaphragmatic hernia11 tests
  • Congenital disorder of glycosylation9 tests
  • Congenital disorder of glycosylation type 1B4 tests
  • Congenital disorder of glycosylation type 1C4 tests
  • Congenital disorder of glycosylation type 1D3 tests
  • Congenital disorder of glycosylation type 1E4 tests
  • Congenital disorder of glycosylation type 1F3 tests
  • Congenital disorder of glycosylation type 1G4 tests
  • Congenital disorder of glycosylation type 1H3 tests
  • Congenital disorder of glycosylation type 1I3 tests
  • Congenital disorder of glycosylation type 1J3 tests
  • Congenital disorder of glycosylation type 1K3 tests
  • Congenital disorder of glycosylation type 1M4 tests
  • Congenital disorder of glycosylation type 1N3 tests
  • Congenital disorder of glycosylation type 1O5 tests
  • Congenital disorder of glycosylation type 1P3 tests
  • Congenital disorder of glycosylation type 1Q3 tests
  • Congenital disorder of glycosylation type 1t2 tests
  • Congenital disorder of glycosylation type 2B4 tests
  • Congenital disorder of glycosylation type 2C4 tests
  • Congenital disorder of glycosylation type 2D3 tests
  • Congenital disorder of glycosylation type 2E4 tests
  • Congenital disorder of glycosylation type 2F3 tests
  • Congenital disorder of glycosylation type 2G3 tests
  • Congenital disorder of glycosylation type 2H3 tests
  • Congenital disorder of glycosylation type 2i3 tests
  • Congenital disorder of glycosylation type 2J2 tests
  • Congenital disorder of glycosylation type 2k2 tests
  • Congenital disorder of glycosylation type 2L2 tests
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il3 tests
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II2 tests
  • Congenital dyserythropoietic anemia, type IV1 test
  • Congenital ectodermal dysplasia of face1 test
  • Congenital erythropoietic porphyria2 tests
  • Congenital fibrosis of extraocular muscles2 tests
  • Congenital generalized lipodystrophy1 test
  • Congenital generalized lipodystrophy type 13 tests
  • Congenital generalized lipodystrophy type 26 tests
  • Congenital giant melanocytic nevus2 tests
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart defects, multiple types, 21 test
  • Congenital heart disease5 tests
  • Congenital hepatic fibrosis7 tests
  • Congenital hip dislocation7 tests
  • Congenital hyperammonemia, type I3 tests
  • Congenital hypertrophy of retinal pigment epithelium7 tests
  • Congenital hypomyelinating neuropathy27 tests
  • Congenital hypothyroidism2 tests
  • Congenital ichthyosiform erythroderma1 test
  • Congenital ichthyosis of skin3 tests
  • Congenital lactase deficiency1 test
  • Congenital lactic acidosis3 tests
  • Congenital laryngeal stridor2 tests
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi1 test
  • Congenital long QT syndrome2 tests
  • Congenital megaureter1 test
  • Congenital microcephaly2 tests
  • Congenital microvillous atrophy1 test
  • Congenital muscular dystrophy9 tests
  • Congenital muscular dystrophy, LMNA-related14 tests
  • Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B58 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A58 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A28 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A67 tests
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A75 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B110 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B28 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B38 tests
  • Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B67 tests
  • Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B411 tests
  • Congenital muscular hypertrophy-cerebral syndrome9 tests
  • Congenital muscular torticollis1 test
  • Congenital myasthenic syndrome 133 tests
  • Congenital myasthenic syndrome 1B, fast-channel6 tests
  • Congenital myasthenic syndrome with tubular aggregates2 tests
  • Congenital myasthenic syndrome with tubular aggregates 12 tests
  • Congenital myasthenic syndrome, acetazolamide-responsive7 tests
  • Congenital myopathy with fiber type disproportion13 tests
  • Congenital myopia1 test
  • Congenital myotonia, autosomal dominant form2 tests
  • Congenital myotonia, autosomal recessive form2 tests
  • Congenital nonbullous ichthyosiform erythroderma2 tests
  • Congenital nystagmus1 test
  • Congenital ocular coloboma7 tests
  • Congenital order of glycosylation type 1r2 tests
  • Congenital pulmonary fibrosis1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital secretory diarrhea, sodium type1 test
  • Congenital sensorineural hearing impairment5 tests
  • Congenital sensory neuropathy with selective loss of small myelinated fibers3 tests
  • Congenital short bowel syndrome3 tests
  • Congenital stationary night blindness4 tests
  • Congenital stationary night blindness, autosomal dominant 14 tests
  • Congenital stationary night blindness, autosomal dominant 23 tests
  • Congenital stationary night blindness, autosomal dominant 32 tests
  • Congenital stationary night blindness, type 1B3 tests
  • Congenital stationary night blindness, type 1C2 tests
  • Congenital stationary night blindness, type 1D1 test
  • Congenital stationary night blindness, type 1E1 test
  • Congenital stationary night blindness, type 2A4 tests
  • Congenital stationary night blindness, type 2B2 tests
  • Congenital Stromal Corneal Dystrophy1 test
  • Congenital visual impairment1 test
  • Congenital, generalized hypertrichosis1 test
  • Congestive heart failure25 tests
  • Congestive heart failure and beta-blocker response, modifier of1 test
  • Conical incisor1 test
  • Conjugated hyperbilirubinemia1 test
  • Conjunctival hamartoma11 tests
  • Conjunctival telangiectasia11 tests
  • Conjunctival whitish salt-like deposits2 tests
  • Conjunctivitis4 tests
  • Conotruncal anomaly face syndrome1 test
  • Conotruncal heart malformations12 tests
  • Conspicuously happy disposition3 tests
  • Constipation36 tests
  • Constricted iliac wings1 test
  • Constriction of peripheral visual field4 tests
  • Contractures of the joints of the lower limbs1 test
  • Convex nasal ridge17 tests
  • Cor pulmonale1 test
  • Cornea plana 21 test
  • Corneal dystrophy3 tests
  • Corneal dystrophy and perceptive deafness2 tests
  • Corneal dystrophy, Fuchs endothelial 11 test
  • Corneal dystrophy, Fuchs endothelial, 42 tests
  • Corneal dystrophy, Fuchs endothelial, 61 test
  • Corneal dystrophy, posterior polymorphous, 21 test
  • Corneal endothelial dystrophy type 22 tests
  • Corneal epithelial dystrophy1 test
  • Corneal erosion2 tests
  • Corneal fragility keratoglobus, blue sclerae AND joint hypermobility2 tests
  • Corneal neovascularization1 test
  • Corneal opacity8 tests
  • Corneal perforation1 test
  • Cornelia de Lange syndrome 17 tests
  • Cornelia de Lange syndrome 33 tests
  • Cornelia de Lange syndrome 42 tests
  • Cornelia de Lange syndrome 53 tests
  • Coronal cleft vertebrae2 tests
  • Coronal craniosynostosis5 tests
  • Coronal hypospadias1 test
  • Coronary Artery Disease17 tests
  • Coronary artery disease, autosomal dominant 22 tests
  • Coronary artery disease, autosomal dominant, 11 test
  • Coronary artery spasm1 test
  • Coronary heart disease 12 tests
  • Coronary heart disease 51 test
  • Coronary heart disease 61 test
  • Coronary heart disease 71 test
  • Corpus callosum abnormalities1 test
  • Corpus callosum agenesis8 tests
  • Corpus callosum atrophy1 test
  • Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia3 tests
  • Corpus callosum, partial agenesis of, X-linked5 tests
  • Cortical dysplasia14 tests
  • Cortical dysplasia, complex, with other brain malformations2 tests
  • Cortical dysplasia, complex, with other brain malformations 13 tests
  • Cortical dysplasia-focal epilepsy syndrome9 tests
  • Cortical gyral simplification14 tests
  • Cortical malformations, occipital2 tests
  • Cortical myoclonus1 test
  • Cortical tubers7 tests
  • Cortical visual impairment10 tests
  • Corticosteroid-binding globulin deficiency1 test
  • Corticosterone methyloxidase type 1 deficiency2 tests
  • Corticosterone methyloxidase type 2 deficiency2 tests
  • Cortisone reductase deficiency2 tests
  • Cortisone reductase deficiency 21 test
  • Costello syndrome15 tests
  • Cough4 tests
  • Cousin syndrome2 tests
  • Cowchock syndrome2 tests
  • Cowden syndrome22 tests
  • Cowden syndrome 212 tests
  • Cowden syndrome 312 tests
  • Cowden syndrome 48 tests
  • Cowden syndrome 59 tests
  • Cowden syndrome 610 tests
  • Coxa plana8 tests
  • Coxa valga3 tests
  • Coxa vara4 tests
  • Cranial asymmetry6 tests
  • Cranial nerve paralysis17 tests
  • Craniodiaphyseal dysplasia, autosomal dominant2 tests
  • Cranioectodermal dysplasia1 test
  • Cranioectodermal dysplasia 12 tests
  • Cranioectodermal dysplasia 23 tests
  • Cranioectodermal dysplasia 32 tests
  • Cranioectodermal dysplasia 42 tests
  • Craniofacial anomalies and anterior segment dysgenesis syndrome1 test
  • Craniofacial deafness hand syndrome3 tests
  • Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome2 tests
  • Craniofacial dystonia3 tests
  • Craniofacial hyperostosis5 tests
  • Craniofrontonasal dysplasia8 tests
  • Craniolenticulosutural dysplasia1 test
  • Craniometaphyseal dysplasia, autosomal dominant2 tests
  • Craniometaphyseal dysplasia, autosomal recessive type1 test
  • Craniosynostosis15 tests
  • Craniosynostosis 12 tests
  • Craniosynostosis 21 test
  • Craniosynostosis 5, susceptibility to1 test
  • Craniosynostosis and dental anomalies1 test
  • Creatine deficiency, X-linked5 tests
  • Creatine phosphokinase, elevated serum27 tests
  • Crigler-Najjar syndrome9 tests
  • Crigler-Najjar syndrome, type II1 test
  • Cromer blood group system1 test
  • Crossed fused renal ectopia1 test
  • Crouzon syndrome7 tests
  • Crouzon syndrome with acanthosis nigricans6 tests
  • Cryptophthalmos syndrome3 tests
  • Cryptorchidism70 tests
  • Cryptorchidism, unilateral or bilateral2 tests
  • Crystalline corneal dystrophy1 test
  • CSF lymphocytic pleiocytosis2 tests
  • Cubitus valgus11 tests
  • Culler-Jones syndrome3 tests
  • Cupped ear6 tests
  • Cupped ribs1 test
  • Curly eyelashes1 test
  • Curly hair9 tests
  • Currarino triad1 test
  • Curry-Hall syndrome5 tests
  • Curved linear dimple below the lower lip2 tests
  • Curvilinear intracellular accumulation of autofluorescent lipopigment storage material4 tests
  • Cushing's symphalangism2 tests
  • Cushing's syndrome6 tests
  • Cutaneous amyloidosis1 test
  • Cutaneous anergy1 test
  • Cutaneous finger syndactyly3 tests
  • Cutaneous leiomyoma6 tests
  • Cutaneous leiomyosarcoma6 tests
  • Cutaneous malignant melanoma 111 tests
  • Cutaneous malignant melanoma 211 tests
  • Cutaneous malignant melanoma 33 tests
  • Cutaneous malignant melanoma 53 tests
  • Cutaneous malignant melanoma 62 tests
  • Cutaneous malignant melanoma 87 tests
  • Cutaneous malignant melanoma 95 tests
  • Cutaneous mastocytosis3 tests
  • Cutaneous melanoma11 tests
  • Cutaneous photosensitivity14 tests
  • Cutaneous telangiectasia and cancer syndrome, familial6 tests
  • Cutis Gyrata syndrome of Beare and Stevenson6 tests
  • Cutis laxa9 tests
  • Cutis laxa with osteodystrophy5 tests
  • Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities11 tests
  • Cutis laxa, autosomal dominant 111 tests
  • Cutis laxa, autosomal dominant 26 tests
  • Cutis laxa, X-linked5 tests
  • Cutis laxa-corneal clouding-oligophrenia syndrome3 tests
  • Cutis marmorata18 tests
  • Cyanosis4 tests
  • Cyanosis, transient neonatal1 test
  • Cyclical neutropenia4 tests
  • Cyclopia1 test
  • Cylindromatosis, familial3 tests
  • CYP2C19-related poor drug metabolism1 test
  • Cystathioninuria2 tests
  • Cystic fibrosis9 tests
  • Cystic hygroma10 tests
  • Cystic liver disease3 tests
  • Cystic renal dysplasia5 tests
  • Cystinosis, ocular nonnephropathic2 tests
  • Cystinuria5 tests
  • Cytochrome-c oxidase deficiency13 tests
  • Czech dysplasia metatarsal type8 tests
  • D-2-hydroxyglutaric aciduria 13 tests
  • D-2-hydroxyglutaric aciduria 23 tests
  • Dacryocystitis1 test
  • Dandy-Walker like malformation with atrioventricular septal defect1 test
  • Dandy-Walker malformation22 tests
  • Danon disease9 tests
  • Darier disease, acral hemorrhagic type1 test
  • Darier disease, segmental1 test
  • De Lange syndrome4 tests
  • DE SANCTIS-CACCHIONE SYNDROME5 tests
  • Deafness and myopia1 test
  • Deafness enamel hypoplasia nail defects1 test
  • Deafness with labyrinthine aplasia microtia and microdontia (LAMM)2 tests
  • Deafness, autosomal dominant 12 tests
  • Deafness, autosomal dominant 104 tests
  • Deafness, autosomal dominant 115 tests
  • Deafness, autosomal dominant 122 tests
  • Deafness, autosomal dominant 135 tests
  • Deafness, autosomal dominant 152 tests
  • Deafness, autosomal dominant 203 tests
  • Deafness, autosomal dominant 222 tests
  • Deafness, autosomal dominant 232 tests
  • Deafness, autosomal dominant 252 tests
  • Deafness, autosomal dominant 282 tests
  • Deafness, autosomal dominant 2b2 tests
  • Deafness, autosomal dominant 362 tests
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 13 tests
  • Deafness, autosomal dominant 3a2 tests
  • Deafness, autosomal dominant 3b2 tests
  • Deafness, autosomal dominant 42 tests
  • Deafness, autosomal dominant 442 tests
  • Deafness, autosomal dominant 482 tests
  • Deafness, autosomal dominant 4b1 test
  • Deafness, autosomal dominant 52 tests
  • Deafness, autosomal dominant 502 tests
  • Deafness, autosomal dominant 561 test
  • Deafness, autosomal dominant 642 tests
  • Deafness, autosomal dominant 92 tests
  • Deafness, autosomal dominant nonsyndromic sensorineural 173 tests
  • Deafness, autosomal recessive11 tests
  • Deafness, autosomal recessive 127 tests
  • Deafness, autosomal recessive 152 tests
  • Deafness, autosomal recessive 161 test
  • Deafness, autosomal recessive 186 tests
  • Deafness, autosomal recessive 1A4 tests
  • Deafness, autosomal recessive 1b2 tests
  • Deafness, autosomal recessive 25 tests
  • Deafness, autosomal recessive 212 tests
  • Deafness, autosomal recessive 222 tests
  • Deafness, autosomal recessive 236 tests
  • Deafness, autosomal recessive 242 tests
  • Deafness, autosomal recessive 252 tests
  • Deafness, autosomal recessive 282 tests
  • Deafness, autosomal recessive 292 tests
  • Deafness, autosomal recessive 32 tests
  • Deafness, autosomal recessive 302 tests
  • Deafness, autosomal recessive 316 tests
  • Deafness, autosomal recessive 352 tests
  • Deafness, autosomal recessive 36, with or without vestibular involvement2 tests
  • Deafness, autosomal recessive 372 tests
  • Deafness, autosomal recessive 392 tests
  • Deafness, autosomal recessive 422 tests
  • Deafness, autosomal recessive 482 tests
  • Deafness, autosomal recessive 492 tests
  • Deafness, autosomal recessive 535 tests
  • Deafness, autosomal recessive 592 tests
  • Deafness, autosomal recessive 62 tests
  • Deafness, autosomal recessive 612 tests
  • Deafness, autosomal recessive 632 tests
  • Deafness, autosomal recessive 672 tests
  • Deafness, autosomal recessive 72 tests
  • Deafness, autosomal recessive 742 tests
  • Deafness, autosomal recessive 772 tests
  • Deafness, autosomal recessive 792 tests
  • Deafness, autosomal recessive 81 test
  • Deafness, autosomal recessive 842 tests
  • Deafness, autosomal recessive 861 test
  • Deafness, autosomal recessive 891 test
  • Deafness, autosomal recessive 92 tests
  • Deafness, autosomal recessive 912 tests
  • Deafness, congenital heart defects, and posterior embryotoxon1 test
  • Deafness, nonsyndromic sensorineural, mitochondrial2 tests
  • Deafness, X-linked 13 tests
  • Deafness, X-linked 24 tests
  • Deafness, X-linked 42 tests
  • Deafness, X-linked 61 test
  • Deafness-infertility syndrome2 tests
  • Death in childhood6 tests
  • Death in infancy6 tests
  • Decrease in T cell count6 tests
  • Decreased activity of cytochrome C oxidase in muscle tissue5 tests
  • Decreased activity of mitochondrial complex II5 tests
  • Decreased activity of mitochondrial respiratory chain1 test
  • Decreased activity of the pyruvate dehydrogenase complex1 test
  • Decreased antibody level in blood20 tests
  • Decreased beta-galactosidase activity1 test
  • Decreased body weight30 tests
  • Decreased circulating ACTH level4 tests
  • Decreased corneal thickness16 tests
  • Decreased CSF homovanillic acid3 tests
  • Decreased fertility12 tests
  • Decreased fertility in females3 tests
  • Decreased fetal movement7 tests
  • Decreased fumarate hydratase activity6 tests
  • Decreased glomerular filtration rate1 test
  • Decreased levels of acid labile subunit1 test
  • Decreased levels of alpha-fetoprotein1 test
  • Decreased light- and dark-adapted electroretinogram amplitude4 tests
  • Decreased liver function7 tests
  • Decreased lymphocyte apoptosis2 tests
  • Decreased mitochondrial complex III activity in liver tissue1 test
  • Decreased motor nerve conduction velocity7 tests
  • Decreased muscle mass4 tests
  • Decreased nerve conduction velocity2 tests
  • Decreased number of CD4+ T cells7 tests
  • Decreased number of large peripheral myelinated nerve fibers1 test
  • Decreased number of peripheral myelinated nerve fibers4 tests
  • Decreased patellar reflex3 tests
  • Decreased plasma free carnitine1 test
  • Decreased plasma total carnitine1 test
  • Decreased renal tubular phosphate excretion2 tests
  • Decreased serum insulin-like growth factor 11 test
  • Decreased serum progesterone1 test
  • Decreased skull ossification5 tests
  • Decreased subcutaneous fat6 tests
  • Decreased T cell activation1 test
  • Decreased testicular size9 tests
  • Decreased testosterone in males1 test
  • Decreased urinary sulfate1 test
  • Decreased urinary urate1 test
  • Deep palmar crease6 tests
  • Deep philtrum12 tests
  • Deep plantar creases9 tests
  • Deep white matter hypodensities2 tests
  • Deep-set nails5 tests
  • Deeply set eye20 tests
  • Defective B cell differentiation6 tests
  • Defective dehydrogenation of isovaleryl CoA and butyryl CoA1 test
  • Defective DNA repair after ultraviolet radiation damage2 tests
  • Defective T cell proliferation1 test
  • Deficiency of 2-methylbutyryl-CoA dehydrogenase2 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase4 tests
  • Deficiency of acetyl-CoA acetyltransferase3 tests
  • Deficiency of alpha-mannosidase3 tests
  • Deficiency of aromatic-L-amino-acid decarboxylase3 tests
  • Deficiency of beta-ureidopropionase2 tests
  • Deficiency of bisphosphoglycerate mutase1 test
  • Deficiency of butyryl-CoA dehydrogenase3 tests
  • Deficiency of cytochrome-b5 reductase3 tests
  • Deficiency of ferroxidase3 tests
  • Deficiency of galactokinase1 test
  • Deficiency of glycerate kinase3 tests
  • Deficiency of glycerol kinase3 tests
  • Deficiency of guanidinoacetate methyltransferase8 tests
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase3 tests
  • Deficiency of iodide peroxidase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase3 tests
  • Deficiency of malonyl-CoA decarboxylase2 tests
  • Deficiency of N-acetylglucosamine-1-phosphotransferase1 test
  • Deficiency of phosphoserine phosphatase1 test
  • Deficiency of pyrroline-5-carboxylate reductase5 tests
  • Deficiency of ribose-5-phosphate isomerase1 test
  • Deficiency of steroid 11-beta-monooxygenase2 tests
  • Deficiency of steroid 17-alpha-monooxygenase1 test
  • Deficiency of transaldolase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Deficiency of xanthine oxidase1 test
  • Deficient excision of UV-induced pyrimidine dimers in DNA3 tests
  • Degeneration of anterior horn cells2 tests
  • Degeneration of the lateral corticospinal tracts2 tests
  • Degenerative joint disease1 test
  • Dehydration2 tests
  • Dejerine-Sottas disease29 tests
  • Delayed closure of the anterior fontanelle2 tests
  • Delayed CNS myelination3 tests
  • Delayed cranial suture closure5 tests
  • Delayed eruption of permanent teeth3 tests
  • Delayed eruption of primary teeth1 test
  • Delayed eruption of teeth19 tests
  • Delayed gross motor development15 tests
  • Delayed menarche2 tests
  • Delayed myelination15 tests
  • Delayed ossification of carpal bones3 tests
  • Delayed Puberty13 tests
  • Delayed skeletal maturation32 tests
  • Delayed speech and language development66 tests
  • delta Thalassemia1 test
  • Delta-0-thalassemia1 test
  • Delusions1 test
  • Dementia11 tests
  • Dementia familial British1 test
  • Dementia, familial Danish1 test
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency3 tests
  • Dengue virus, susceptibility to1 test
  • Dense calvaria1 test
  • Dent disease 13 tests
  • Dent disease 22 tests
  • Dental crowding10 tests
  • Dental enamel pits9 tests
  • Dental malocclusion20 tests
  • Dentatorubral pallidoluysian atrophy1 test
  • Denticles3 tests
  • Dentin dysplasia, type I1 test
  • Dentinogenesis imperfecta - Shield's type II3 tests
  • Dentinogenesis imperfecta - Shield's type III3 tests
  • Deposits immunoreactive to beta-amyloid protein1 test
  • Depressed nasal bridge47 tests
  • Depressed nasal ridge16 tests
  • Depressed nasal tip4 tests
  • Depression9 tests
  • Dermal atrophy5 tests
  • Dermatan sulfate excretion in urine1 test
  • Dermatitis, atopic1 test
  • Dermatitis, atopic, 21 test
  • Dermatofibrosarcoma protuberans1 test
  • Dermatofibrosis lenticularis disseminata2 tests
  • Dermatopathia pigmentosa reticularis2 tests
  • Desbuquois dysplasia 14 tests
  • Desbuquois dysplasia 21 test
  • Desmoid disease, hereditary4 tests
  • Desmoid tumors7 tests
  • Desmosterolosis3 tests
  • Developmental regression27 tests
  • Developmental stagnation1 test
  • Developmental stagnation at onset of seizures3 tests
  • Deviation of finger3 tests
  • Deviation of the 5th finger1 test
  • Dextrocardia1 test
  • DFNA 2 Nonsyndromic Hearing Loss2 tests
  • Diabetes insipidus5 tests
  • Diabetes mellitus21 tests
  • Diabetes mellitus AND insipidus with optic atrophy AND deafness8 tests
  • Diabetes mellitus type 110 tests
  • Diabetes mellitus type 262 tests
  • Diabetes mellitus, insulin-dependent, 101 test
  • Diabetes mellitus, insulin-dependent, 121 test
  • Diabetes mellitus, insulin-dependent, 24 tests
  • Diabetes mellitus, insulin-dependent, 203 tests
  • Diabetes mellitus, insulin-dependent, 221 test
  • Diabetes mellitus, insulin-dependent, 51 test
  • Diabetes mellitus, ketosis-prone2 tests
  • Diabetes mellitus, neonatal, with congenital hypothyroidism3 tests
  • Diabetes mellitus, noninsulin-dependent, 11 test
  • Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension1 test
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis3 tests
  • Diabetes mellitus, permanent neonatal, with neurologic features1 test
  • Dialeptic seizures4 tests
  • Diaminoaciduria1 test
  • Diamond-Blackfan anemia7 tests
  • Diamond-Blackfan anemia 102 tests
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 32 tests
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 53 tests
  • Diamond-Blackfan anemia 72 tests
  • Diamond-Blackfan anemia 82 tests
  • Diamond-Blackfan anemia 92 tests
  • Diaphanospondylodysostosis1 test
  • Diaphoresis (with pheochromocytoma)4 tests
  • Diaphragmatic hernia 31 test
  • Diaphyseal cortical sclerosis1 test
  • Diaphyseal dysplasia3 tests
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma1 test
  • Diaphyseal thickening1 test
  • Diarrhea27 tests
  • Diarrhea 4, malabsorptive, congenital3 tests
  • Diarrhea 5, with tufting enteropathy, congenital6 tests
  • Diarrhea 61 test
  • Diarrhea 71 test
  • Diastasis recti5 tests
  • Diastema3 tests
  • Diastrophic dysplasia3 tests
  • Dicarboxylic aciduria1 test
  • Dicarboxylic aminoaciduria1 test
  • Difficulty climbing stairs3 tests
  • Difficulty running6 tests
  • Difficulty walking10 tests
  • Diffuse cerebellar atrophy1 test
  • Diffuse cerebral atrophy1 test
  • Diffuse demyelination of the cerebral white matter1 test
  • Diffuse mesangial sclerosis7 tests
  • Diffuse palmoplantar keratoderma1 test
  • Diffuse palmoplantar keratoderma, Bothnian type1 test
  • Diffuse reticular or finely nodular infiltrations1 test
  • Diffuse spongiform leukoencephalopathy1 test
  • Diffuse swelling of cerebral white matter1 test
  • DiGeorge sequence4 tests
  • DiGeorge syndrome/velocardiofacial syndrome complex 21 test
  • Digital arthropathy-brachydactyly, familial5 tests
  • Digital clubbing, isolated congenital2 tests
  • Digitorenocerebral syndrome4 tests
  • Dihydropteridine reductase deficiency5 tests
  • Dihydropyrimidinase deficiency1 test
  • Dihydropyrimidine dehydrogenase deficiency4 tests
  • Dilatation of renal calices1 test
  • Dilatation of the aortic arch1 test
  • Dilatation of the ascending aorta1 test
  • Dilated cardiomyopathy 1A16 tests
  • Dilated cardiomyopathy 1AA4 tests
  • Dilated cardiomyopathy 1BB6 tests
  • Dilated cardiomyopathy 1C9 tests
  • Dilated cardiomyopathy 1CC5 tests
  • Dilated cardiomyopathy 1DD5 tests
  • Dilated cardiomyopathy 1E10 tests
  • Dilated cardiomyopathy 1EE4 tests
  • Dilated cardiomyopathy 1F4 tests
  • Dilated cardiomyopathy 1FF5 tests
  • Dilated cardiomyopathy 1G9 tests
  • Dilated cardiomyopathy 1GG8 tests
  • Dilated cardiomyopathy 1HH4 tests
  • Dilated cardiomyopathy 1I11 tests
  • Dilated cardiomyopathy 1II6 tests
  • Dilated cardiomyopathy 1J4 tests
  • Dilated cardiomyopathy 1JJ3 tests
  • Dilated cardiomyopathy 1KK3 tests
  • Dilated cardiomyopathy 1L8 tests
  • Dilated cardiomyopathy 1M5 tests
  • Dilated cardiomyopathy 1N9 tests
  • Dilated cardiomyopathy 1O5 tests
  • Dilated cardiomyopathy 1P5 tests
  • Dilated cardiomyopathy 1R5 tests
  • Dilated cardiomyopathy 1S7 tests
  • Dilated cardiomyopathy 1T4 tests
  • Dilated cardiomyopathy 1V5 tests
  • Dilated cardiomyopathy 1W6 tests
  • Dilated cardiomyopathy 1X11 tests
  • Dilated cardiomyopathy 1Y5 tests
  • Dilated cardiomyopathy 1Z5 tests
  • Dilated cardiomyopathy 2A5 tests
  • Dilated cardiomyopathy 3B8 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome14 tests
  • Dilated fourth ventricle3 tests
  • Dilation of lateral ventricles2 tests
  • Dimethylglycine dehydrogenase deficiency2 tests
  • Diplopia4 tests
  • Disinhibition2 tests
  • Dislocated radial head6 tests
  • Disorder due cytochrome p450 CYP2D6 variant1 test
  • Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency1 test
  • Disorganization of the anterior cerebellar vermis2 tests
  • Displacement of the external urethral meatus29 tests
  • Disproportionate short stature2 tests
  • Disproportionate short-limb short stature7 tests
  • Disproportionate short-trunk short stature3 tests
  • Disproportionate tall stature4 tests
  • Disseminated atypical mycobacterial infection1 test
  • Disseminated intravascular coagulation1 test
  • Distal amyotrophy9 tests
  • Distal arthrogryposis1 test
  • Distal arthrogryposis type 1B1 test
  • Distal arthrogryposis type 2B8 tests
  • Distal hereditary motor neuronopathy1 test
  • Distal hereditary motor neuronopathy type 2A4 tests
  • Distal hereditary motor neuronopathy type 2B4 tests
  • Distal hereditary motor neuronopathy type 2C1 test
  • Distal hereditary motor neuronopathy type 59 tests
  • Distal hereditary motor neuronopathy type 5B5 tests
  • Distal hereditary motor neuronopathy type 7B4 tests
  • Distal ileal atresia2 tests
  • Distal lower limb amyotrophy2 tests
  • Distal muscle weakness8 tests
  • Distal myopathy Markesbery-Griggs type8 tests
  • Distal myopathy, Tateyama type10 tests
  • Distal sensory impairment14 tests
  • Distal shortening of limbs2 tests
  • Distal spinal muscular atrophy, autosomal recessive 42 tests
  • Distal spinal muscular atrophy, congenital nonprogressive5 tests
  • Distal spinal muscular atrophy, X-linked 35 tests
  • Distal urethral duplication1 test
  • Distichiasis-lymphedema syndrome1 test
  • Dizygotic twins1 test
  • DNM2-related intermediate Charcot-Marie-Tooth neuropathy3 tests
  • Dolichocephaly24 tests
  • Dominant dystrophic epidermolysis bullosa with absence of skin2 tests
  • Dominant hereditary optic atrophy5 tests
  • Donnai Barrow syndrome1 test
  • Dopamine beta hydroxylase deficiency1 test
  • Dopamine receptor d2, reduced brain density of1 test
  • Double outlet right ventricle2 tests
  • Down-sloping shoulders5 tests
  • Downbeat nystagmus3 tests
  • Downslanted palpebral fissures49 tests
  • Downturned corners of mouth15 tests
  • Doyne honeycomb retinal dystrophy3 tests
  • Drash syndrome5 tests
  • Drooling5 tests
  • Drowsiness3 tests
  • Dry hair1 test
  • Dry skin18 tests
  • Duane anomaly4 tests
  • Duane syndrome type 21 test
  • Duane-radial ray syndrome2 tests
  • Dubin-Johnson syndrome2 tests
  • Duchenne muscular dystrophy8 tests
  • Duffy Blood group system1 test
  • Duodenal adenocarcinoma12 tests
  • Duodenal atresia1 test
  • Duodenal polyposis7 tests
  • Duodenal stenosis14 tests
  • Duplicated collecting system6 tests
  • Duplication of internal organs1 test
  • Duplication of renal pelvis4 tests
  • Duplication of thumb phalanx1 test
  • Dural ectasia1 test
  • Dyggve-Melchior-Clausen syndrome3 tests
  • Dysarthria44 tests
  • Dysautonomia6 tests
  • Dyscalculia3 tests
  • Dyschromatopsia3 tests
  • dyschromatosis1 test
  • Dyschromatosis universalis hereditaria 31 test
  • Dysdiadochokinesis9 tests
  • Dysequilibrium syndrome2 tests
  • Dysgammaglobulinemia6 tests
  • Dysgenesis of the cerebellar vermis2 tests
  • Dysgerminoma3 tests
  • Dysgnathia complex1 test
  • Dysharmonic bone age1 test
  • Dyskeratosis congenita16 tests
  • Dyskeratosis congenita autosomal dominant11 tests
  • Dyskeratosis congenita autosomal recessive 17 tests
  • Dyskeratosis congenita X-linked3 tests
  • Dyskeratosis congenita, autosomal dominant, 25 tests
  • Dyskeratosis congenita, autosomal dominant, 33 tests
  • Dyskeratosis congenita, autosomal recessive 23 tests
  • Dyskeratosis congenita, autosomal recessive, 32 tests
  • Dyskinesia6 tests
  • Dyskinesia, familial, with facial myokymia1 test
  • Dyslexia 11 test
  • Dyslexia 21 test
  • Dysmetria13 tests
  • Dysmetric saccades2 tests
  • Dysostosis multiplex1 test
  • Dysphagia24 tests
  • Dysphasia4 tests
  • Dysphonia5 tests
  • Dysplastic corpus callosum3 tests
  • Dysplastic distal thumb phalanges with a central hole1 test
  • Dyspnea11 tests
  • Dystonia31 tests
  • Dystonia 12 tests
  • Dystonia 103 tests
  • Dystonia 124 tests
  • Dystonia 163 tests
  • Dystonia 3, torsion, X-linked4 tests
  • Dystonia 5, Dopa-responsive type5 tests
  • Dystonia 6, torsion2 tests
  • Dystonia 911 tests
  • Dystransthyretinemic euthyroidal hyperthyroxinemia7 tests
  • Early infantile epileptic encephalopathy12 tests
  • Early infantile epileptic encephalopathy 105 tests
  • Early infantile epileptic encephalopathy 114 tests
  • Early infantile epileptic encephalopathy 122 tests
  • Early infantile epileptic encephalopathy 133 tests
  • Early infantile epileptic encephalopathy 151 test
  • Early infantile epileptic encephalopathy 28 tests
  • Early infantile epileptic encephalopathy 415 tests
  • Early infantile epileptic encephalopathy 54 tests
  • Early infantile epileptic encephalopathy 75 tests
  • Early infantile epileptic encephalopathy 83 tests
  • Early infantile epileptic encephalopathy 915 tests
  • Early myoclonic encephalopathy7 tests
  • Early repolarization associated with ventricular fibrillation6 tests
  • Early T cell progenitor acute lymphoblastic leukemia2 tests
  • Easy fatigability3 tests
  • Echolalia1 test
  • Eclampsia1 test
  • Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant2 tests
  • Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive2 tests
  • Ectodermal dysplasia skin fragility syndrome1 test
  • Ectodermal dysplasia, 'pure' hair-nail type1 test
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant1 test
  • Ectodermal dysplasia-syndactyly syndrome 11 test
  • Ectopia lentis2 tests
  • Ectopia lentis et pupillae1 test
  • Ectopia lentis, isolated autosomal recessive1 test
  • Ectopia lentis, isolated, autosomal dominant5 tests
  • Ectopia pupillae1 test
  • Ectopic anus6 tests
  • Ectopic kidney5 tests
  • Ectopic posterior pituitary1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 33 tests
  • Ectropion1 test
  • Eculizumab, poor response to1 test
  • Eczema8 tests
  • Edema6 tests
  • Edict syndrome1 test
  • EEG abnormality23 tests
  • EEG with burst suppression4 tests
  • EEG with centrotemporal focal spike waves4 tests
  • EEG with irregular generalized spike and wave complexes1 test
  • EEG with photoparoxysmal response1 test
  • EEG with spike-wave complexes (>3.5 Hz)2 tests
  • EEM syndrome4 tests
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome progeroid type3 tests
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss2 tests
  • Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form6 tests
  • Ehlers-Danlos syndrome, classic type8 tests
  • Ehlers-Danlos syndrome, hydroxylysine-deficient3 tests
  • Ehlers-Danlos syndrome, musculocontractural type4 tests
  • Ehlers-Danlos syndrome, procollagen proteinase deficient7 tests
  • Ehlers-Danlos syndrome, progeroid type, 22 tests
  • Ehlers-Danlos syndrome, type 33 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Ehlers-Danlos syndrome, type vii, autosomal recessive2 tests
  • Eichsfeld type congenital muscular dystrophy3 tests
  • Eiken skeletal dysplasia2 tests
  • Elbow dislocation8 tests
  • Elbow flexion contracture6 tests
  • Electron transfer flavoprotein-ubiquinone oxidoreductase defect1 test
  • Elevated 7-dehydrocholesterol1 test
  • Elevated alkaline phosphatase6 tests
  • Elevated alpha-fetoprotein6 tests
  • Elevated basal serum calcitonin3 tests
  • Elevated calcitonin3 tests
  • Elevated circulating catecholamine level4 tests
  • Elevated circulating parathyroid hormone level6 tests
  • Elevated erythrocyte sedimentation rate2 tests
  • Elevated hepatic transaminases28 tests
  • Elevated levels of phytanic acid1 test
  • Elevated long chain fatty acids1 test
  • Elevated plasma acylcarnitine levels1 test
  • Elevated plasma branched chain amino acids1 test
  • Elevated red cell adenosine deaminase activity1 test
  • Elevated serum creatinine1 test
  • Elevated serum long-chain fatty acids1 test
  • Elevated serum transaminases during infections1 test
  • Elevated sweat chloride1 test
  • Elevated urinary epinephrine3 tests
  • Elevated urinary norepinephrine6 tests
  • Elliptocytosis 11 test
  • Elliptocytosis 21 test
  • Elongated superior cerebellar peduncle3 tests
  • Embryonal rhabdomyosarcoma6 tests
  • Emery-Dreifuss muscular dystrophy 1, X-linked11 tests
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant3 tests
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant2 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant5 tests
  • EMG abnormality20 tests
  • EMG: chronic denervation signs2 tests
  • EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1 test
  • EMG: myopathic abnormalities4 tests
  • EMG: neuropathic changes3 tests
  • Emotional lability9 tests
  • Emphysema12 tests
  • Enamel-renal syndrome6 tests
  • Encephalitis3 tests
  • Encephalocele13 tests
  • Encephalopathy12 tests
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 15 tests
  • Encephalopathy, acute, infection-induced, 3, suceptibility to1 test
  • Encephalopathy, acute, infection-induced, 4, susceptibility to5 tests
  • Encephalopathy, familial, with neuroserpin inclusion bodies3 tests
  • Encephalopathy, mitochondrial1 test
  • Encephalopathy, progressive, with or without lipodystrophy5 tests
  • Endocardial fibroelastosis5 tests
  • Endocardial fibrosis3 tests
  • Endocrine-cerebroosteodysplasia2 tests
  • Endometrial carcinoma33 tests
  • Endometrial neoplasm6 tests
  • Endometriosis1 test
  • Endotoxin hyporesponsiveness1 test
  • Endplate acetylcholinesterase deficiency2 tests
  • Enhanced s-cone syndrome3 tests
  • Enhancement of the C-reflex1 test
  • Enlarged cerebellum5 tests
  • Enlarged cisterna magna2 tests
  • Enlarged flash visual evoked potentials1 test
  • Enlarged fossa interpeduncularis2 tests
  • Enlarged kidney5 tests
  • Enlarged labia minora2 tests
  • Enlarged thorax9 tests
  • Enlarged vertebral pedicles4 tests
  • Enlarged vestibular aqueduct3 tests
  • Enlarged vestibular aqueduct syndrome9 tests
  • Enlargement of parotid gland1 test
  • Enlargement of the costochondral junction1 test
  • Enterocolitis2 tests
  • Enterokinase deficiency1 test
  • Enteropathy, protein-losing1 test
  • Entropion1 test
  • Enuresis4 tests
  • Eosinophil peroxidase deficiency1 test
  • Eosinophilia4 tests
  • Ependymoma14 tests
  • Epibulbar dermoid8 tests
  • Epicanthus52 tests
  • Epicanthus inversus1 test
  • Epidermal cyst7 tests
  • Epidermal nevus17 tests
  • Epidermal nevus syndrome10 tests
  • EPIDERMODYSPLASIA VERRUCIFORMIS2 tests
  • Epidermolysa bullosa simplex and limb girdle muscular dystrophy3 tests
  • Epidermolysis bullosa dystrophica inversa, autosomal recessive1 test
  • Epidermolysis bullosa herpetiformis, Dowling-Meara4 tests
  • Epidermolysis bullosa junctionalis with pyloric atresia5 tests
  • Epidermolysis bullosa pruriginosa2 tests
  • Epidermolysis bullosa simplex with migratory circinate erythema3 tests
  • Epidermolysis bullosa simplex with mottled pigmentation3 tests
  • Epidermolysis bullosa simplex with pyloric atresia3 tests
  • Epidermolysis bullosa simplex, autosomal recessive3 tests
  • Epidermolysis bullosa simplex, autosomal recessive 21 test
  • Epidermolysis bullosa simplex, Cockayne-Touraine type5 tests
  • Epidermolysis bullosa simplex, Koebner type4 tests
  • Epidermolysis bullosa simplex, Ogna type3 tests
  • Epidermolysis bullosa, lethal acantholytic7 tests
  • Epidermolytic palmoplantar keratoderma2 tests
  • Epididymal cyst4 tests
  • Epilepsia partialis continua3 tests
  • Epilepsy juvenile absence6 tests
  • Epilepsy with grand mal seizures on awakening5 tests
  • Epilepsy, childhood absence 12 tests
  • Epilepsy, childhood absence 23 tests
  • Epilepsy, childhood absence 53 tests
  • Epilepsy, childhood absence 62 tests
  • Epilepsy, familial focal, with variable foci 15 tests
  • Epilepsy, familial temporal lobe, 52 tests
  • Epilepsy, focal, with speech disorder and with or without mental retardation7 tests
  • Epilepsy, hearing loss, and mental retardation syndrome1 test
  • Epilepsy, idiopathic generalized 102 tests
  • Epilepsy, idiopathic generalized 84 tests
  • Epilepsy, idiopathic generalized 92 tests
  • Epilepsy, idiopathic generalized, susceptibility to, 127 tests
  • Epilepsy, juvenile myoclonic 52 tests
  • Epilepsy, lateral temporal lobe, autosomal dominant6 tests
  • Epilepsy, nocturnal frontal lobe, type 14 tests
  • Epilepsy, nocturnal frontal lobe, type 37 tests
  • Epilepsy, nocturnal frontal lobe, type 42 tests
  • Epilepsy, progressive myoclonic 34 tests
  • Epilepsy, progressive myoclonic 4, with or without renal failure2 tests
  • Epilepsy, progressive myoclonic 52 tests
  • Epilepsy, progressive myoclonic 62 tests
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders6 tests
  • Epileptic encephalopathy17 tests
  • Epileptic encephalopathy Lennox-Gastaut type5 tests
  • Epileptic encephalopathy, childhood-onset5 tests
  • Epileptic encephalopathy, early infantile, 11 test
  • Epileptic encephalopathy, early infantile, 191 test
  • Epileptic encephalopathy, early infantile, 241 test
  • Epileptic encephalopathy, early infantile, 362 tests
  • Epileptic spasms5 tests
  • Epiphyseal chondrodysplasia, miura type2 tests
  • Epiphyseal deformities of tubular bones1 test
  • Epiphyseal dysplasia4 tests
  • Epiphyseal dysplasia, multiple, with myopia and conductive deafness8 tests
  • Epiphyseal stippling1 test
  • Epiretinal membrane2 tests
  • Episodic abdominal pain1 test
  • Episodic ataxia4 tests
  • Episodic ataxia type 13 tests
  • Episodic ataxia type 25 tests
  • Episodic ataxia, type 52 tests
  • Episodic ataxia, type 61 test
  • Episodic fever1 test
  • Episodic flaccid weakness1 test
  • Episodic hemiplegia2 tests
  • Episodic hypertension6 tests
  • Episodic pain syndrome, familial, 22 tests
  • Episodic paroxysmal anxiety4 tests
  • Episodic quadriplegia2 tests
  • Episodic tachypnea2 tests
  • Episodic vomiting2 tests
  • Epistaxis12 tests
  • Epithelial-myoepithelial carcinoma1 test
  • Epstein syndrome3 tests
  • Erectile abnormalities10 tests
  • Erlenmeyer flask deformity of the femurs1 test
  • Erysipelas2 tests
  • Erythema3 tests
  • Erythema nodosum1 test
  • Erythrocyte AMP deaminase deficiency2 tests
  • Erythrocyte lactate transporter defect3 tests
  • Erythrocytosis5 tests
  • Erythrocytosis, familial, 26 tests
  • Erythrocytosis, familial, 33 tests
  • Erythrocytosis, familial, 41 test
  • Erythroderma3 tests
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige1 test
  • Erythroderma, ichthyosiform, congenital reticular2 tests
  • Erythroid hypoplasia1 test
  • Erythrokeratodermia variabilis3 tests
  • Erythrokeratodermia with ataxia1 test
  • Erythropoietic protoporphyria2 tests
  • Esophageal atresia2 tests
  • Esophageal neoplasm15 tests
  • Esophageal stenosis1 test
  • Esophageal varix9 tests
  • Esophagitis3 tests
  • Esotropia12 tests
  • Essential hypertension15 tests
  • Essential pentosuria1 test
  • Essential thrombocythemia5 tests
  • Essential tremor1 test
  • Estrogen resistance1 test
  • Ethylmalonic aciduria3 tests
  • Ethylmalonic encephalopathy3 tests
  • Euthyroid hyperthyroxinemia1 test
  • Euthyroid multinodular goiter5 tests
  • Eversion of lateral third of lower eyelids1 test
  • Everted lower lip vermilion10 tests
  • Everted upper lip vermilion1 test
  • Ewing's sarcoma4 tests
  • Exaggerated cupid's bow1 test
  • Exaggerated startle response4 tests
  • Excessive daytime sleepiness1 test
  • Excessive salivation4 tests
  • Exercise intolerance13 tests
  • Exercise-induced hemolysis1 test
  • Exercise-induced hyperinsulinemic hypoglycemia2 tests
  • Exercise-induced muscle cramps1 test
  • Exercise-induced myoglobinuria1 test
  • Exertional dyspnea4 tests
  • Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like1 test
  • Exocrine pancreatic insufficiency9 tests
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis2 tests
  • Exostoses9 tests
  • Exotropia6 tests
  • Expressive language delay1 test
  • Exstrophy of the bladder4 tests
  • External ear malformation16 tests
  • External genital hypoplasia6 tests
  • External ophthalmoplegia4 tests
  • Externally rotated/abducted legs1 test
  • Extraadrenal pheochromocytoma4 tests
  • Extrahepatic biliary duct atresia1 test
  • Extramedullary hematopoiesis2 tests
  • Extrapyramidal dyskinesia1 test
  • Exudative vitreoretinopathy3 tests
  • Exudative vitreoretinopathy 15 tests
  • Exudative vitreoretinopathy 44 tests
  • Exudative vitreoretinopathy 52 tests
  • Eye of the tiger anomaly of globus pallidus1 test
  • Eyelid apraxia2 tests
  • Ezetimibe response1 test
  • Fabry disease6 tests
  • Facial asymmetry21 tests
  • Facial capillary hemangioma2 tests
  • Facial cleft1 test
  • Facial diplegia2 tests
  • facial dysmorphism1 test
  • Facial dysmorphism, immunodeficiency, livedo, and short stature3 tests
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs1 test
  • Facial edema1 test
  • Facial erythema1 test
  • Facial grimacing1 test
  • Facial hemangioma1 test
  • Facial hypertrichosis1 test
  • Facial hypotonia4 tests
  • Facial palsy18 tests
  • Facial telangiectasia in butterfly midface distribution3 tests
  • Facial wrinkling1 test
  • Facioscapulohumeral muscular dystrophy2 tests
  • Factor H deficiency2 tests
  • Factor v and factor viii, combined deficiency of, 21 test
  • Factor V deficiency2 tests
  • Factor VII deficiency1 test
  • Factor X deficiency1 test
  • Factor XII deficiency disease2 tests
  • Factor xiii, a subunit, deficiency of1 test
  • Factor xiii, b subunit, deficiency of1 test
  • Failure of tooth eruption, primary2 tests
  • Failure to thrive57 tests
  • Failure to thrive in infancy5 tests
  • Fair hair5 tests
  • Falls1 test
  • Familial adenomatous polyposis 113 tests
  • Familial advanced sleep phase syndrome 11 test
  • Familial amyloid nephropathy with urticaria AND deafness2 tests
  • Familial aortopathy2 tests
  • Familial benign pemphigus1 test
  • Familial cancer of breast65 tests
  • Familial chronic mucocutaneous candidiasis1 test
  • Familial cold autoinflammatory syndrome1 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 31 test
  • Familial cold urticaria2 tests
  • Familial colorectal cancer24 tests
  • Familial dysautonomia2 tests
  • Familial episodic pain syndrome2 tests
  • Familial episodic pain syndrome 11 test
  • Familial erythrocytosis, 14 tests
  • Familial expansile osteolysis3 tests
  • Familial exudative vitreoretinopathy, X-linked5 tests
  • Familial febrile seizures 83 tests
  • Familial gynecomastia, due to increased aromatase activity1 test
  • Familial hemiplegic migraine4 tests
  • Familial hemiplegic migraine type 15 tests
  • Familial hemiplegic migraine type 25 tests
  • Familial hemiplegic migraine type 316 tests
  • Familial hyperaldosteronism type 34 tests
  • Familial hypercholesterolemia8 tests
  • Familial hyperinsulinism1 test
  • Familial hyperkalemic periodic paralysis1 test
  • Familial hypertriglyceridemia4 tests
  • Familial hypertrophic cardiomyopathy 118 tests
  • Familial hypertrophic cardiomyopathy 104 tests
  • Familial hypertrophic cardiomyopathy 116 tests
  • Familial hypertrophic cardiomyopathy 125 tests
  • Familial hypertrophic cardiomyopathy 135 tests
  • Familial hypertrophic cardiomyopathy 144 tests
  • Familial hypertrophic cardiomyopathy 156 tests
  • Familial hypertrophic cardiomyopathy 164 tests
  • Familial hypertrophic cardiomyopathy 174 tests
  • Familial hypertrophic cardiomyopathy 185 tests
  • Familial hypertrophic cardiomyopathy 193 tests
  • Familial hypertrophic cardiomyopathy 26 tests
  • Familial hypertrophic cardiomyopathy 205 tests
  • Familial hypertrophic cardiomyopathy 35 tests
  • Familial hypertrophic cardiomyopathy 46 tests
  • Familial hypertrophic cardiomyopathy 65 tests
  • Familial hypertrophic cardiomyopathy 75 tests
  • Familial hypertrophic cardiomyopathy 84 tests
  • Familial hypertrophic cardiomyopathy 98 tests
  • Familial hypoalphalipoproteinemia2 tests
  • Familial hypobetalipoproteinemia1 test
  • Familial hypocalciuric hypercalcemia4 tests
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial hypoplastic, glomerulocystic kidney7 tests
  • Familial idiopathic hypercalciuria1 test
  • Familial infantile myasthenia4 tests
  • Familial juvenile gout2 tests
  • Familial Mediterranean fever2 tests
  • Familial mediterranean fever, autosomal dominant2 tests
  • Familial medullary thyroid carcinoma19 tests
  • Familial multiple polyposis syndrome7 tests
  • Familial multiple trichoepitheliomata3 tests
  • Familial pancreatic carcinoma1 test
  • Familial partial lipodystrophy 17 tests
  • Familial partial lipodystrophy 215 tests
  • Familial partial lipodystrophy 33 tests
  • Familial partial lipodystrophy 41 test
  • Familial partial lipodystrophy 52 tests
  • Familial partial lipodystrophy 61 test
  • Familial platelet disorder with associated myeloid malignancy5 tests
  • Familial porencephaly4 tests
  • Familial porphyria cutanea tarda2 tests
  • Familial progressive hyperpigmentation with or without hypopigmentation1 test
  • Familial prostate cancer7 tests
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial renal glucosuria3 tests
  • Familial renal hypouricemia1 test
  • Familial restrictive cardiomyopathy 15 tests
  • Familial restrictive cardiomyopathy 36 tests
  • Familial type 5 hyperlipoproteinemia1 test
  • Familial ventricular tachycardia1 test
  • Familial visceral amyloidosis, Ostertag type3 tests
  • Familial X-linked hypophosphatemic vitamin D refractory rickets2 tests
  • Fanconi anemia10 tests
  • Fanconi anemia, complementation group A3 tests
  • Fanconi anemia, complementation group B6 tests
  • Fanconi anemia, complementation group C9 tests
  • Fanconi anemia, complementation group D16 tests
  • Fanconi anemia, complementation group D23 tests
  • Fanconi anemia, complementation group E3 tests
  • Fanconi anemia, complementation group F3 tests
  • Fanconi anemia, complementation group G4 tests
  • Fanconi anemia, complementation group I5 tests
  • Fanconi anemia, complementation group J18 tests
  • Fanconi anemia, complementation group L5 tests
  • Fanconi anemia, complementation group M5 tests
  • Fanconi anemia, complementation group N17 tests
  • Fanconi anemia, complementation group O3 tests
  • Fanconi anemia, complementation group P4 tests
  • Fanconi anemia, complementation group Q5 tests
  • Fanconi anemia, complementation group T1 test
  • Fanconi renotubular syndrome 21 test
  • Fanconi syndrome1 test
  • Fanconi-Bickel syndrome3 tests
  • Farber's lipogranulomatosis2 tests
  • Fasciculations7 tests
  • Fasting plasma glucose level quantitative trait locus 51 test
  • Fat malabsorption1 test
  • Fatal familial insomnia2 tests
  • Fatal infantile mitochondrial cardiomyopathy4 tests
  • Fatal liver failure in infancy1 test
  • Fatigable weakness2 tests
  • Fatigue7 tests
  • Favism, susceptibility to2 tests
  • Febrile seizures5 tests
  • Febrile seizures, familial, 114 tests
  • Febrile seizures, familial, 112 tests
  • Febrile seizures, familial, 45 tests
  • Fechtner syndrome3 tests
  • Feeding difficulties34 tests
  • Feeding difficulties in infancy40 tests
  • Feingold syndrome 13 tests
  • Feingold syndrome 21 test
  • Female hypogonadism6 tests
  • Female pseudohermaphroditism7 tests
  • Femoral bowing5 tests
  • Femoral hernia1 test
  • Fetal akinesia sequence4 tests
  • Fetal ascites1 test
  • Fetal hemoglobin quantitative trait locus 12 tests
  • Fetal hemoglobin quantitative trait locus 61 test
  • Fetal megacystis1 test
  • Fetal polyuria1 test
  • Fever9 tests
  • Few cafe-au-lait spots1 test
  • FG syndrome5 tests
  • FG syndrome 26 tests
  • FG syndrome 48 tests
  • Fibroadenoma of the breast11 tests
  • Fibrochondrogenesis5 tests
  • Fibrochondrogenesis 25 tests
  • Fibrofolliculoma2 tests
  • Fibroma2 tests
  • Fibrosarcoma1 test
  • Fibrosis of extraocular muscles, congenital, 12 tests
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement3 tests
  • Fibrous dysplasia of jaw1 test
  • Fibrous Sheath Dysplasia1 test
  • Fibular hypoplasia1 test
  • Fibular hypoplasia and complex brachydactyly2 tests
  • Filippi syndrome1 test
  • Fine hair11 tests
  • Finger syndactyly32 tests
  • Fingerprint intracellular accumulation of autofluorescent lipopigment storage material4 tests
  • Finnish congenital nephrotic syndrome2 tests
  • Fish-eye disease2 tests
  • Flank pain1 test
  • Flared femoral metaphysis1 test
  • Flared humeral metaphysis1 test
  • Flared iliac wings4 tests
  • Flared metaphysis2 tests
  • Flared nostrils1 test
  • Flaring of rib cage1 test
  • Flat acetabular roof3 tests
  • Flat capital femoral epiphysis2 tests
  • Flat face4 tests
  • Flat forehead3 tests
  • Flat nasal alae4 tests
  • Flat occiput10 tests
  • Flattened femoral head1 test
  • Fleck corneal dystrophy1 test
  • Fleck retina, familial benign1 test
  • Flexed deformity1 test
  • Flexion contracture34 tests
  • Floating-Harbor syndrome1 test
  • Fluorouracil response1 test
  • Foam cells1 test
  • Foam cells in visceral organs and CNS1 test
  • Foam cells with lamellar inclusion bodies1 test
  • Focal clonic seizures4 tests
  • Focal cortical dysplasia of Taylor9 tests
  • Focal cortical dysplasia of Taylor type 2B7 tests
  • Focal dermal hypoplasia2 tests
  • Focal dystonia4 tests
  • Focal epilepsy5 tests
  • Focal segmental glomerulosclerosis10 tests
  • Focal segmental glomerulosclerosis 13 tests
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 3, susceptibility to2 tests
  • Focal segmental glomerulosclerosis 4, susceptibility to1 test
  • Focal segmental glomerulosclerosis 52 tests
  • Focal segmental glomerulosclerosis 61 test
  • Focal seizures6 tests
  • Focal seizures with impairment of consciousness or awareness12 tests
  • Focal seizures without impairment of consciousness or awareness4 tests
  • Focal seizures, afebril4 tests
  • Focal white matter lesions7 tests
  • Folate-responsive megaloblastic anemia1 test
  • Follicle-stimulating hormone deficiency, isolated1 test
  • Follicular hyperkeratosis1 test
  • Follicular hyperplasia2 tests
  • Follicular lymphoma 11 test
  • Follicular thyroid carcinoma2 tests
  • Food intolerance1 test
  • Foot dorsiflexor weakness6 tests
  • Foot oligodactyly1 test
  • Foot polydactyly19 tests
  • Forearm reduction defects3 tests
  • Forebrain defects2 tests
  • Foveal hypoplasia1 test
  • Foveal hypoplasia and presenile cataract syndrome1 test
  • Fractures of the long bones1 test
  • Fragile nails5 tests
  • Fragile site 11b1 test
  • Fragile skin2 tests
  • Fragile X syndrome4 tests
  • Fragile X tremor/ataxia syndrome5 tests
  • Frank Ter Haar syndrome5 tests
  • Frasier syndrome5 tests
  • FRAXE3 tests
  • Freckling15 tests
  • Freeman-Sheldon syndrome2 tests
  • Frequent falls8 tests
  • Friedreich ataxia 13 tests
  • Friedreich ataxia 22 tests
  • Frontal bossing44 tests
  • Frontal encephalocele1 test
  • Frontal hirsutism1 test
  • Frontal release signs2 tests
  • Frontal upsweep of hair1 test
  • Frontometaphyseal dysplasia7 tests
  • Frontonasal dysplasia 22 tests
  • Frontonasal dysplasia 31 test
  • Frontoparietal cortical dysplasia1 test
  • Frontoparietal polymicrogyria4 tests
  • Frontotemporal cerebral atrophy1 test
  • Frontotemporal dementia10 tests
  • Frontotemporal Dementia, Chromosome 3-Linked2 tests
  • Frontotemporal dementia, ubiquitin-positive3 tests
  • Fructose-biphosphatase deficiency3 tests
  • Fructosuria, essential1 test
  • Fuchs endothelial corneal dystrophy1 test
  • Fucosidosis4 tests
  • Fucosyltransferase 6 deficiency1 test
  • Fuhrmann syndrome2 tests
  • Fukuyama congenital muscular dystrophy12 tests
  • Full cheeks17 tests
  • Fumarase deficiency15 tests
  • Functional abnormality of male internal genitalia9 tests
  • Furrowed tongue17 tests
  • Fused cervical vertebrae1 test
  • Fused fourth and fifth metacarpals1 test
  • Fused labia minora1 test
  • Gait apraxia4 tests
  • Gait ataxia17 tests
  • Gait disturbance43 tests
  • Galactorrhea2 tests
  • Galactosialidosis, adult1 test
  • Galactosialidosis, early infantile2 tests
  • Galactosialidosis, late infantile2 tests
  • Galactosylceramide beta-galactosidase deficiency5 tests
  • Gallbladder disease 41 test
  • Gallbladder dysfunction1 test
  • Galloway-Mowat syndrome1 test
  • Gamma-aminobutyric acid transaminase deficiency5 tests
  • Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to1 test
  • Ganglioneuroblastoma4 tests
  • Ganglioneuroma4 tests
  • Ganglioside sialidase deficiency5 tests
  • Gangliosidosis GM1 type 33 tests
  • Gangrene1 test
  • Gardner syndrome8 tests
  • Gastric lymphoma1 test
  • Gastritis1 test
  • Gastroesophageal reflux14 tests
  • Gastrointestinal carcinoma6 tests
  • Gastrointestinal dysmotility3 tests
  • Gastrointestinal hemorrhage30 tests
  • Gastrointestinal infarctions6 tests
  • Gastrointestinal polyposis4 tests
  • Gastrointestinal stroma tumor18 tests
  • Gastrointestinal stromal tumor16 tests
  • Gastroparesis3 tests
  • GATA-1-related thrombocytopenia with dyserythropoiesis2 tests
  • Gaucher disease1 test
  • Gaucher disease type 3C4 tests
  • Gaucher disease, atypical, due to saposin C deficiency4 tests
  • Gaucher disease, perinatal lethal4 tests
  • Gaucher's disease, type 14 tests
  • Gaze palsy, familial horizontal, with progressive scoliosis1 test
  • Gaze-evoked horizontal nystagmus1 test
  • Gaze-evoked nystagmus8 tests
  • Geleophysic dysplasia 25 tests
  • Generalized aminoaciduria1 test
  • Generalized amyotrophy6 tests
  • Generalized arterial calcification of infancy 23 tests
  • Generalized clonic seizures1 test
  • Generalized dominant dystrophic epidermolysis bullosa2 tests
  • Generalized dystonia2 tests
  • Generalized epilepsy5 tests
  • Generalized epilepsy and paroxysmal dyskinesia2 tests
  • Generalized epilepsy with febrile seizures plus5 tests
  • Generalized epilepsy with febrile seizures plus, type 111 tests
  • Generalized epilepsy with febrile seizures plus, type 216 tests
  • Generalized epilepsy with febrile seizures plus, type 74 tests
  • Generalized hirsutism1 test
  • Generalized hyperpigmentation11 tests
  • Generalized hypopigmentation4 tests
  • Generalized hypotonia9 tests
  • Generalized joint laxity1 test
  • Generalized lipodystrophy1 test
  • Generalized muscle hypertrophy8 tests
  • Generalized muscle weakness4 tests
  • Generalized myoclonic seizures6 tests
  • Generalized neonatal hypotonia1 test
  • Generalized osteoporosis2 tests
  • Generalized seizures4 tests
  • Generalized tonic seizures5 tests
  • Generalized tonic-clonic seizures8 tests
  • Generalized tonic-clonic seizures with focal onset4 tests
  • Genitopatellar syndrome3 tests
  • Genu recurvatum13 tests
  • Genu valgum14 tests
  • Genu varum2 tests
  • Germ cell tumor, nonseminomatous1 test
  • Geroderma osteodysplastica2 tests
  • Gerstmann-Straussler-Scheinker syndrome2 tests
  • Ghosal syndrome2 tests
  • Giant axonal neuropathy5 tests
  • Giant cell hepatitis1 test
  • Giant melanosomes in melanocytes3 tests
  • Giant pigmented hairy nevus3 tests
  • Giant platelets1 test
  • Giant somatosensory evoked potentials1 test
  • GIL BLOOD GROUP1 test
  • Gilbert syndrome, susceptibility to8 tests
  • Gilbert's syndrome9 tests
  • Gillessen-Kaesbach-Nishimura dysplasia1 test
  • Gingival bleeding2 tests
  • Gingival fibromatosis9 tests
  • Gingival overgrowth21 tests
  • Gingivitis8 tests
  • Glanzmann thrombasthenia2 tests
  • Glaucoma37 tests
  • Glaucoma 1, open angle, F1 test
  • Glaucoma 1, open angle, G2 tests
  • Glaucoma 1, open angle, I2 tests
  • Glaucoma 1, open angle, N2 tests
  • Glaucoma 1, open angle, O2 tests
  • Glaucoma 3, primary congenital, d2 tests
  • Glaucoma 3, primary infantile, b4 tests
  • Glaucoma, congenital4 tests
  • Glaucoma, normal tension, susceptibility to7 tests
  • Glioblastoma11 tests
  • Glioma15 tests
  • Glioma susceptibility 111 tests
  • Glioma susceptibility 210 tests
  • Glioma susceptibility 36 tests
  • Gliosis11 tests
  • Global brain atrophy4 tests
  • Global developmental delay166 tests
  • Globozoospermia1 test
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria2 tests
  • Glomerulopathy3 tests
  • Glomerulopathy with fibronectin deposits 21 test
  • Glomerulosclerosis1 test
  • Glomus jugular tumor4 tests
  • Glomus tympanicum paraganglioma4 tests
  • Glomuvenous malformations1 test
  • Glossitis1 test
  • Glossoptosis4 tests
  • Glucagonoma3 tests
  • Glucocorticoid deficiency 22 tests
  • Glucocorticoid deficiency with achalasia3 tests
  • Glucocorticoid resistance, generalized1 test
  • Glucocorticoid therapy, response to1 test
  • Glucose intolerance7 tests
  • Glucose-6-phosphate transport defect1 test
  • GLUT1 deficiency syndrome 120 tests
  • GLUT1 deficiency syndrome 27 tests
  • GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY1 test
  • Glutamine deficiency, congenital2 tests
  • Glutaric acidemia1 test
  • Glutaric acidemia IIA1 test
  • Glutaric acidemia IIB1 test
  • Glutaric acidemia IIC1 test
  • Glutaric aciduria2 tests
  • Glutaric aciduria, type 15 tests
  • Glutaric aciduria, type 28 tests
  • Glutaryl-CoA oxidase deficiency2 tests
  • Glutathione peroxidase deficiency2 tests
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to2 tests
  • Gluthathione synthetase deficiency2 tests
  • Glycerol release during exercise, defective2 tests
  • Glycine N-methyltransferase deficiency2 tests
  • Glycogen content in skeletal muscle, increased1 test
  • Glycogen storage disease 0, muscle3 tests
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc2 tests
  • Glycogen storage disease IXd2 tests
  • Glycogen storage disease of heart, lethal congenital5 tests
  • Glycogen storage disease type 132 tests
  • Glycogen storage disease type 1A3 tests
  • Glycogen storage disease type III3 tests
  • Glycogen storage disease type IXa12 tests
  • Glycogen storage disease type X3 tests
  • Glycogen storage disease XI2 tests
  • Glycogen storage disease XV2 tests
  • Glycogen storage disease, type II4 tests
  • Glycogen storage disease, type IV2 tests
  • Glycogen storage disease, type V1 test
  • Glycogen storage disease, type VI2 tests
  • Glycogen storage disease, type VII2 tests
  • Glycosuria5 tests
  • GM1 gangliosidosis2 tests
  • GM1 gangliosidosis type 25 tests
  • GM1-gangliosidosis, type I, with cardiac involvement2 tests
  • GM2-ganglioside accumulation1 test
  • Gm2-gangliosidosis, adult1 test
  • Gm2-gangliosidosis, chronic1 test
  • Gm2-gangliosidosis, juvenile1 test
  • Gm2-gangliosidosis, variant b11 test
  • Gnathodiaphyseal dysplasia6 tests
  • Goiter12 tests
  • Goiter, multinodular 1, with or without sertoli-leydig cell tumors2 tests
  • Goldberg-Shprintzen megacolon syndrome3 tests
  • Gonadal dysgenesis12 tests
  • Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance5 tests
  • Gonadal tissue inappropriate for external genitalia or chromosomal sex2 tests
  • Gonadoblastoma4 tests
  • Gonadotropin-independent familial sexual precocity2 tests
  • Gordon Holmes syndrome1 test
  • Gordon's syndrome1 test
  • Gorlin syndrome10 tests
  • Gowers sign6 tests
  • Gracile bone dysplasia1 test
  • GRACILE syndrome8 tests
  • Graft-versus-host disease, susceptibility to1 test
  • Granular osmiophilic deposits (GROD) in cells4 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III1 test
  • Gray matter heterotopias2 tests
  • Gray platelet syndrome1 test
  • Grayish enamel1 test
  • Grebe syndrome2 tests
  • Greenberg dysplasia4 tests
  • Greig cephalopolysyndactyly syndrome5 tests
  • Griscelli syndrome type 12 tests
  • Griscelli syndrome type 22 tests
  • Griscelli syndrome type 31 test
  • Groenouw corneal dystrophy type I1 test
  • Growth abnormality3 tests
  • Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate2 tests
  • Growth delay23 tests
  • Growth hormone deficiency7 tests
  • growth hormone deficiency with short stature1 test
  • Growth hormone excess7 tests
  • Growth hormone insensitivity with immunodeficiency2 tests
  • Growth retardation, developmental delay, coarse facies, and early death2 tests
  • GTP cyclohydrolase I deficiency2 tests
  • Guillain-Barre syndrome, familial4 tests
  • Gynecomastia27 tests
  • Haim-Munk syndrome2 tests
  • Hair morphology 12 tests
  • Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes1 test
  • Hajdu-Cheney syndrome3 tests
  • Hallermann-Streiff syndrome1 test
  • Hallucinations19 tests
  • Hallux valgus7 tests
  • Hamamy syndrome2 tests
  • Hamartoma3 tests
  • Hamartoma of hypothalamus4 tests
  • Hamartoma of tongue1 test
  • Hamartomatous polyposis11 tests
  • Hamartomatous stomach polyps4 tests
  • Hammertoe5 tests
  • Hand clenching3 tests
  • Hand foot uterus syndrome1 test
  • Hand oligodactyly2 tests
  • Hand polydactyly15 tests
  • Hand tremor1 test
  • Handgrip myotonia1 test
  • Happy demeanor4 tests
  • Hashimoto thyroiditis9 tests
  • Hay-Wells syndrome of ectodermal dysplasia3 tests
  • Hb SS disease1 test
  • Head titubation3 tests
  • Head tremor2 tests
  • Head-banging1 test
  • Headache10 tests
  • Hearing abnormality9 tests
  • Hearing impairment64 tests
  • Heart block, nonprogressive2 tests
  • Heart murmur2 tests
  • Heart-hand syndrome, Slovenian type15 tests
  • Heat intolerance1 test
  • Hecht syndrome1 test
  • Heinz body anemia2 tests
  • Helicobacter pylori infection, susceptibility to1 test
  • Helsmoortel-van der aa syndrome1 test
  • Hemangioma13 tests
  • Hemangioma, capillary infantile3 tests
  • Hematochezia11 tests
  • Hematologic neoplasm1 test
  • Hematological neoplasm14 tests
  • Hematuria13 tests
  • Heme oxygenase 1 deficiency1 test
  • Hemeralopia1 test
  • Hemiclonic seizures4 tests
  • Hemifacial spasm1 test
  • Hemihypertrophy4 tests
  • Hemimegalencephaly6 tests
  • Hemiparesis11 tests
  • Hemiplegia5 tests
  • Hemiplegia/hemiparesis35 tests
  • Hemivertebrae7 tests
  • Hemochromatosis type 13 tests
  • Hemochromatosis type 2A1 test
  • Hemochromatosis type 2B1 test
  • Hemochromatosis type 31 test
  • Hemochromatosis type 41 test
  • Hemochromatosis type 51 test
  • Hemoglobin H2 tests
  • Hemoglobin H disease1 test
  • Hemoglobinuria1 test
  • Hemolytic anemia18 tests
  • Hemolytic anemia due to hexokinase deficiency2 tests
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2 tests
  • Hemolytic uremic syndrome1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to2 tests
  • Hemophagocytic lymphohistiocytosis, familial, 22 tests
  • Hemophagocytic lymphohistiocytosis, familial, 32 tests
  • Hemophagocytic lymphohistiocytosis, familial, 43 tests
  • Hemophagocytic lymphohistiocytosis, familial, 52 tests
  • Hemophilia A with vascular abnormality1 test
  • Hemoptysis11 tests
  • Hemorrhage, intracerebral, susceptibility to8 tests
  • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts1 test
  • Hennekam lymphangiectasia-lymphedema syndrome2 tests
  • Heparan sulfate excretion in urine2 tests
  • Heparin cofactor II deficiency2 tests
  • Hepatic adenomas, familial3 tests
  • Hepatic arteriovenous malformation4 tests
  • Hepatic calcification1 test
  • Hepatic cysts2 tests
  • Hepatic failure20 tests
  • Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency1 test
  • Hepatic fibrosis8 tests
  • Hepatic lipase deficiency1 test
  • Hepatic methionine adenosyltransferase deficiency3 tests
  • Hepatic periportal necrosis1 test
  • Hepatic steatosis9 tests
  • Hepatic venoocclusive disease with immunodeficiency1 test
  • Hepatitis1 test
  • Hepatitis b virus, susceptibility to3 tests
  • Hepatitis c virus, susceptibility to6 tests
  • Hepatoblastoma16 tests
  • Hepatocellular carcinoma34 tests
  • Hepatocellular necrosis6 tests
  • Hepatoerythropoietic porphyria1 test
  • Hepatomegaly50 tests
  • Hepatosplenomegaly4 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary angioedema type 11 test
  • Hereditary angioneurotic edema with normal C1 esterase inhibitor activity1 test
  • Hereditary breast and ovarian cancer syndrome18 tests
  • Hereditary cancer-predisposing syndrome43 tests
  • Hereditary cerebral amyloid angiopathy, Icelandic type2 tests
  • Hereditary congenital facial paresis1 test
  • Hereditary coproporphyria3 tests
  • Hereditary cutaneous melanoma9 tests
  • Hereditary diffuse gastric cancer22 tests
  • Hereditary diffuse leukoencephalopathy with spheroids3 tests
  • Hereditary disease11896 tests
  • Hereditary essential tremor 11 test
  • Hereditary factor IX deficiency disease2 tests
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary fructosuria1 test
  • Hereditary gingival fibromatosis6 tests
  • Hereditary hemorrhagic telangiectasia type 11 test
  • Hereditary hemorrhagic telangiectasia type 24 tests
  • Hereditary insensitivity to pain with anhidrosis2 tests
  • Hereditary leiomyomatosis and renal cell cancer14 tests
  • Hereditary liability to pressure palsies26 tests
  • Hereditary lymphedema type I1 test
  • Hereditary mixed polyposis syndrome 23 tests
  • Hereditary motor and sensory neuropathy3 tests
  • Hereditary motor and sensory neuropathy with optic atrophy4 tests
  • Hereditary multiple osteochondromas1 test
  • Hereditary myopathy with early respiratory failure8 tests
  • Hereditary neutrophilia1 test
  • Hereditary nonpolyposis colorectal cancer type 47 tests
  • Hereditary nonpolyposis colorectal cancer type 57 tests
  • Hereditary nonpolyposis colorectal cancer type 63 tests
  • Hereditary nonpolyposis colorectal cancer type 71 test
  • Hereditary nonpolyposis colorectal cancer type 86 tests
  • Hereditary nonpolyposis colorectal carcinoma22 tests
  • Hereditary ovarian carcinoma6 tests
  • Hereditary pancreatitis12 tests
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes5 tests
  • Hereditary pyropoikilocytosis1 test
  • Hereditary sensory and autonomic neuropathy type IC4 tests
  • Hereditary sensory and autonomic neuropathy type IIA3 tests
  • Hereditary sensory and autonomic neuropathy type IIB2 tests
  • Hereditary sensory and autonomic neuropathy type IIC4 tests
  • Hereditary sensory neuropathy type 1D6 tests
  • Hereditary sensory neuropathy type IE5 tests
  • Hereditary sideroblastic anemia2 tests
  • Hereditary spastic paraplegia2 tests
  • Hermansky Pudlak syndrome 24 tests
  • Hermansky-Pudlak syndrome 13 tests
  • Hermansky-Pudlak syndrome 33 tests
  • Hermansky-Pudlak syndrome 43 tests
  • Hermansky-Pudlak syndrome 53 tests
  • Hermansky-Pudlak syndrome 63 tests
  • Hermansky-Pudlak syndrome 74 tests
  • Hermansky-Pudlak syndrome 83 tests
  • Hermansky-Pudlak syndrome 93 tests
  • Hernia1 test
  • Hernia of the abdominal wall13 tests
  • Herpes simplex encephalitis 11 test
  • Herpes simplex encephalitis, susceptibility to, 31 test
  • Herpes simplex encephalitis, susceptibility to, 41 test
  • Heterochromia iridis10 tests
  • Heterotaxy syndrome1 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal2 tests
  • Heterotaxy, visceral, X-linked3 tests
  • Heterotopia4 tests
  • Heterotopia, periventricular, autosomal recessive2 tests
  • Hiatus hernia2 tests
  • Hidradenitis suppurativa, familial1 test
  • Hidrotic ectodermal dysplasia syndrome2 tests
  • High anterior hairline3 tests
  • High CSF lactic acid2 tests
  • High density lipoprotein cholesterol level quantitative trait locus 121 test
  • High density lipoprotein cholesterol level quantitative trait locus 61 test
  • High forehead23 tests
  • High maternal serum alpha-fetoprotein1 test
  • High molecular weight kininogen deficiency1 test
  • High palate44 tests
  • High pitched voice10 tests
  • High, narrow palate3 tests
  • Highly arched eyebrow20 tests
  • Hip contracture6 tests
  • Hip dislocation8 tests
  • Hip dysplasia8 tests
  • Hip dysplasia, beukes type1 test
  • Hip Subluxation2 tests
  • Hirschsprung disease4 tests
  • Hirschsprung disease 18 tests
  • Hirschsprung disease 24 tests
  • Hirschsprung disease 35 tests
  • Hirschsprung disease 47 tests
  • Hirschsprung disease, cardiac defects, and autonomic dysfunction2 tests
  • Hirsutism14 tests
  • Histidinemia1 test
  • Histiocytic medullary reticulosis8 tests
  • Histiocytoma1 test
  • Histiocytosis-lymphadenopathy plus syndrome1 test
  • HMG CoA synthetase deficiency1 test
  • HNSHA due to aldolase A deficiency1 test
  • Hoarse voice6 tests
  • Hoarse voice (caused by tumor impingement)4 tests
  • Hodgkin lymphoma7 tests
  • Holocarboxylase synthetase deficiency2 tests
  • Holoprosencephaly14 tests
  • Holoprosencephaly 113 tests
  • Holoprosencephaly 23 tests
  • Holoprosencephaly 34 tests
  • Holoprosencephaly 44 tests
  • Holoprosencephaly 54 tests
  • Holoprosencephaly 78 tests
  • Holoprosencephaly 93 tests
  • Holoprosencephaly sequence4 tests
  • Holt-Oram syndrome3 tests
  • Homocysteinemia due to MTHFR deficiency6 tests
  • Homocystinuria2 tests
  • Homocystinuria due to CBS deficiency4 tests
  • Homocystinuria due to MTHFR deficiency1 test
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type3 tests
  • Homozygous 11p15-p14 deletion syndrome11 tests
  • Horizontal eyebrow1 test
  • Horizontal nystagmus4 tests
  • Horizontal ribs2 tests
  • Horizontal sacrum1 test
  • Horseshoe kidney12 tests
  • Howel-Evans syndrome1 test
  • Hoyeraal Hreidarsson syndrome2 tests
  • Human immunodeficiency virus type 1, susceptibility to13 tests
  • Huntington disease-like 12 tests
  • Huntington disease-like 21 test
  • Huntington's chorea3 tests
  • Hurler syndrome6 tests
  • Hurthle cell carcinoma of thyroid3 tests
  • Hurthle cell thyroid adenoma2 tests
  • Hutchinson-Gilford syndrome15 tests
  • Hyaline fibromatosis syndrome2 tests
  • Hydatidiform mole1 test
  • Hydatidiform mole, recurrent, 21 test
  • Hydranencephaly4 tests
  • Hydrocele testis9 tests
  • Hydrocephalus53 tests
  • Hydrocephalus, nonsyndromic, autosomal recessive 21 test
  • Hydrolethalus syndrome 12 tests
  • Hydrolethalus syndrome 26 tests
  • Hydronephrosis14 tests
  • Hydrops fetalis4 tests
  • Hydroureter2 tests
  • Hydroxykynureninuria1 test
  • Hydroxyprolinuria1 test
  • Hyper-IgE syndrome2 tests
  • Hyperactive airways1 test
  • Hyperactive deep tendon reflexes2 tests
  • Hyperactive patellar reflex1 test
  • Hyperactive renin-angiotensin system1 test
  • Hyperactivity13 tests
  • Hyperacusis1 test
  • Hyperalaninemia4 tests
  • Hyperaldosteronism3 tests
  • Hyperaldosteronism, familial, type I2 tests
  • Hyperalphalipoproteinemia1 test
  • Hyperalphalipoproteinemia 21 test
  • Hyperammonemia4 tests
  • Hyperammonemia, type III2 tests
  • Hyperapobetalipoproteinemia, susceptibility to1 test
  • Hyperbetalipoproteinemia2 tests
  • Hyperbilirubinemia9 tests
  • Hyperbiliverdinemia1 test
  • Hypercalcemia12 tests
  • Hypercalciuria6 tests
  • Hypercalciuric hypercalcemia3 tests
  • Hypercarotenemia and vitamin a deficiency, autosomal dominant1 test
  • Hyperchlorhidrosis, isolated1 test
  • Hyperchloriduria1 test
  • Hypercholanemia, familial4 tests
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B2 tests
  • Hypercholesterolemia, autosomal recessive1 test
  • Hypercoagulability2 tests
  • Hyperconvex nail4 tests
  • Hypercortisolism7 tests
  • Hyperechogenic kidneys1 test
  • Hyperekplexia1 test
  • Hyperekplexia 22 tests
  • Hyperekplexia 32 tests
  • Hyperekplexia hereditary5 tests
  • Hyperemesis gravidarum1 test
  • Hyperextensibility of the finger joints7 tests
  • Hyperextensible skin5 tests
  • Hyperferritinemia cataract syndrome1 test
  • Hyperglutaminemia1 test
  • Hyperglycemia2 tests
  • Hyperglycinemia1 test
  • Hyperglycinuria4 tests
  • Hypergonadotropic hypogonadism6 tests
  • Hyperhidrosis22 tests
  • Hyperhomocystinemia1 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1 test
  • Hyperimmunoglobulin E syndrome1 test
  • Hyperinsulinemia15 tests
  • Hyperinsulinemic hypoglycemia2 tests
  • Hyperinsulinemic hypoglycemia familial 36 tests
  • Hyperinsulinemic hypoglycemia familial 55 tests
  • Hyperinsulinemic hypoglycemia, familial, 45 tests
  • Hyperinsulinism-hyperammonemia syndrome6 tests
  • Hyperkalemia1 test
  • Hyperkalemic Periodic Paralysis Type 14 tests
  • Hyperkeratosis20 tests
  • Hyperkeratosis pilaris2 tests
  • Hyperkinesis4 tests
  • Hyperlipidemia1 test
  • Hyperlipidemia, combined, 11 test
  • Hyperlipidemia, familial combined2 tests
  • Hyperlipoproteinemia, type I1 test
  • Hyperlipoproteinemia, type ID1 test
  • Hyperlordosis13 tests
  • Hyperlysinemia3 tests
  • Hypermagnesemia4 tests
  • Hypermelanotic macule22 tests
  • Hypermethioninemia due to adenosine kinase deficiency2 tests
  • Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency2 tests
  • Hypermetric saccades2 tests
  • Hypermetropia20 tests
  • Hypernatremia1 test
  • Hypernatriuria1 test
  • Hyperopic astigmatism1 test
  • Hyperorality1 test
  • Hyperornithinemia1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome6 tests
  • Hyperostosis8 tests
  • Hyperoxaluria1 test
  • Hyperparathyroidism9 tests
  • Hyperparathyroidism 14 tests
  • Hyperparathyroidism 21 test
  • Hyperphenylalaninemia2 tests
  • Hyperphenylalaninemia, BH4-deficient, D1 test
  • Hyperphosphatasemia tarda2 tests
  • Hyperphosphatasemia with bone disease2 tests
  • Hyperphosphatasia with mental retardation syndrome4 tests
  • Hyperphosphatasia with mental retardation syndrome 16 tests
  • Hyperphosphatasia with mental retardation syndrome 22 tests
  • Hyperphosphatemia6 tests
  • Hyperphosphaturia10 tests
  • Hyperpigmentation of the skin11 tests
  • Hyperpigmented/hypopigmented macules1 test
  • Hyperplastic colonic polyposis4 tests
  • Hyperprolinemia1 test
  • Hyperprostaglandinuria1 test
  • Hyperreflexia59 tests
  • Hypersexuality1 test
  • Hypertelorism67 tests
  • Hypertension27 tests
  • Hypertension associated with pheochromocytoma4 tests
  • Hypertension, diastolic, resistance to2 tests
  • Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy1 test
  • Hypertensive crisis11 tests
  • Hypertensive retinopathy6 tests
  • Hyperthyroidism12 tests
  • Hyperthyroidism, familial gestational4 tests
  • Hyperthyroidism, nonautoimmune4 tests
  • Hyperthyroxinemia, familial dysalbuminemic1 test
  • Hypertonia35 tests
  • Hypertrichosis32 tests
  • Hypertrichotic osteochondrodysplasia6 tests
  • Hypertriglyceridemia5 tests
  • Hypertriglyceridemia, transient infantile2 tests
  • Hypertrophic cardiomyopathy37 tests
  • Hypertrophy of the breast, juvenile9 tests
  • Hypertyrosinemia1 test
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis6 tests
  • Hyperuricemic nephropathy, familial juvenile, 21 test
  • Hyperventilation4 tests
  • Hyphema1 test
  • Hypoalbuminemia8 tests
  • Hypoalphalipoproteinemia2 tests
  • Hypobetalipoproteinemia2 tests
  • Hypobetalipoproteinemia, familial, 11 test
  • Hypobetalipoproteinemia, familial, 21 test
  • Hypocalcemia8 tests
  • Hypocalcemia, autosomal dominant 13 tests
  • Hypocalciuria5 tests
  • Hypocalciuric hypercalcemia, familial, type 14 tests
  • Hypochloremia1 test
  • Hypocholesterolemia1 test
  • Hypochondroplasia6 tests
  • Hypochromic microcytic anemia3 tests
  • Hypochromic microcytic anemia with iron overload1 test
  • Hypochromic microcytic anemia with iron overload 21 test
  • Hypocortisolemia1 test
  • Hypodontia7 tests
  • Hypodysplasia of the corpus callosum2 tests
  • Hypofibrinogenemia2 tests
  • Hypoglycemia26 tests
  • Hypoglycemia with deficiency of glycogen synthetase in the liver4 tests
  • Hypoglycemia, neonatal, simulating foetopathia diabetica4 tests
  • Hypoglycemic coma1 test
  • Hypoglycemic seizures2 tests
  • Hypoglycorrhachia4 tests
  • Hypogonadism13 tests
  • Hypogonadism with anosmia1 test
  • Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1 test
  • Hypogonadotrophic hypogonadism3 tests
  • Hypogonadotropic hypogonadism 10 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 11 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 12 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 14 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia2 tests
  • Hypogonadotropic hypogonadism 7 with or without anosmia7 tests
  • Hypogonadotropic hypogonadism 8 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism 9 with or without anosmia3 tests
  • Hypogonadotropic hypogonadism with or without anosmia1 test
  • Hypohidrosis10 tests
  • Hypohidrotic X-linked ectodermal dysplasia2 tests
  • Hypointensity of cerebral white matter on MRI1 test
  • Hypokalemia7 tests
  • Hypokalemic alkalosis1 test
  • Hypokalemic hypochloremic metabolic alkalosis1 test
  • Hypokalemic metabolic alkalosis3 tests
  • Hypokalemic periodic paralysis1 test
  • Hypokalemic periodic paralysis 17 tests
  • Hypokalemic periodic paralysis, type 24 tests
  • Hypoketotic hypoglycemia1 test
  • Hypokinesia5 tests
  • Hypomagnesemia4 tests
  • Hypomagnesemia 1, intestinal1 test
  • Hypomagnesemia 2, renal1 test
  • Hypomagnesemia 4, renal1 test
  • Hypomagnesemia 5, renal, with ocular involvement1 test
  • Hypomagnesemia 6, renal1 test
  • Hypomelanotic macule8 tests
  • Hypometric saccades4 tests
  • Hypomimic face1 test
  • Hypomyelinating leukodystrophy4 tests
  • Hypomyelinating leukodystrophy 72 tests
  • Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism1 test
  • Hypomyelination and Congenital Cataract3 tests
  • Hypomyelination, global cerebral7 tests
  • Hyponatremia1 test
  • Hypoparathyroidism5 tests
  • Hypoparathyroidism familial isolated6 tests
  • Hypoparathyroidism retardation dysmorphism syndrome3 tests
  • Hypophosphatemia4 tests
  • Hypophosphatemic rickets6 tests
  • Hypophosphatemic rickets, autosomal recessive, 22 tests
  • Hypophosphatemic rickets, X-linked recessive4 tests
  • Hypopigmentation of hair16 tests
  • Hypopigmentation of the fundus5 tests
  • Hypopigmentation of the skin12 tests
  • Hypopigmented skin patches30 tests
  • Hypopituitarism1 test
  • Hypoplasia of dental enamel11 tests
  • Hypoplasia of first ribs1 test
  • Hypoplasia of penis32 tests
  • Hypoplasia of proximal fibula2 tests
  • Hypoplasia of proximal radius2 tests
  • Hypoplasia of the abdominal wall musculature2 tests
  • Hypoplasia of the brainstem16 tests
  • Hypoplasia of the calcaneus1 test
  • Hypoplasia of the corpus callosum50 tests
  • Hypoplasia of the ear cartilage1 test
  • Hypoplasia of the epiglottis1 test
  • Hypoplasia of the femoral head2 tests
  • Hypoplasia of the fovea4 tests
  • Hypoplasia of the frontal lobes1 test
  • Hypoplasia of the iris2 tests
  • Hypoplasia of the lacrimal puncta1 test
  • Hypoplasia of the maxilla20 tests
  • Hypoplasia of the musculature1 test
  • Hypoplasia of the odontoid process4 tests
  • Hypoplasia of the ovary2 tests
  • Hypoplasia of the pons6 tests
  • Hypoplasia of the premaxilla4 tests
  • Hypoplasia of the prostate2 tests
  • Hypoplasia of the pyramidal tract1 test
  • Hypoplasia of the radius8 tests
  • Hypoplasia of the retina1 test
  • Hypoplasia of the thymus9 tests
  • Hypoplasia of the ulna5 tests
  • Hypoplasia of the ventral pons1 test
  • Hypoplasia of the zygomatic bone10 tests
  • Hypoplastic acetabulae1 test
  • Hypoplastic enamel-onycholysis-hypohidrosis syndrome1 test
  • Hypoplastic fifth toenail1 test
  • Hypoplastic fingernail1 test
  • Hypoplastic frontal sinuses1 test
  • Hypoplastic ilia1 test
  • Hypoplastic iliac wing6 tests
  • Hypoplastic inferior ilia1 test
  • Hypoplastic inferior pubic rami1 test
  • Hypoplastic iris stroma3 tests
  • Hypoplastic ischia3 tests
  • Hypoplastic labia majora2 tests
  • Hypoplastic labia minora1 test
  • Hypoplastic lacrimal duct1 test
  • Hypoplastic left atrium1 test
  • Hypoplastic left heart3 tests
  • Hypoplastic left heart syndrome2 tests
  • Hypoplastic left heart syndrome 24 tests
  • Hypoplastic male external genitalia1 test
  • Hypoplastic nipples2 tests
  • Hypoplastic olfactory lobes1 test
  • Hypoplastic pelvis2 tests
  • Hypoplastic philtrum4 tests
  • Hypoplastic pubic bone1 test
  • Hypoplastic radial head1 test
  • Hypoplastic sacrum1 test
  • Hypoplastic scapulae1 test
  • Hypoplastic spleen1 test
  • Hypoplastic superior helix1 test
  • Hypoplastic thumbnail1 test
  • Hypoplastic toenails10 tests
  • Hypoplastic vertebral bodies6 tests
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration5 tests
  • Hypoproteinemia2 tests
  • Hypoproteinemia, hypercatabolic1 test
  • Hyporeflexia26 tests
  • Hyporeflexia of lower limbs1 test
  • Hyporeflexia of upper limbs3 tests
  • Hyposegmentation of neutrophil nuclei1 test
  • Hyposmia6 tests
  • Hypospadias14 tests
  • Hypospadias 1, X-linked2 tests
  • Hypospadias 2, X-linked1 test
  • Hyposthenuria1 test
  • Hypotelorism14 tests
  • Hypotension11 tests
  • Hypothalamic hamartoma2 tests
  • Hypothalamic hypothyroidism1 test
  • Hypothermia4 tests
  • Hypothyroidism24 tests
  • Hypothyroidism, central, and testicular enlargement1 test
  • Hypothyroidism, congenital, nongoitrous, 13 tests
  • Hypothyroidism, congenital, nongoitrous, 54 tests
  • Hypothyroidism, congenital, nongoitrous, 61 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Hypotonia-cystinuria syndrome1 test
  • Hypotrichosis4 tests
  • Hypotrichosis 121 test
  • Hypotrichosis 21 test
  • Hypotrichosis 31 test
  • Hypotrichosis 41 test
  • Hypotrichosis 61 test
  • Hypotrichosis 71 test
  • Hypotrichosis 85 tests
  • Hypotrichosis and recurrent skin vesicles1 test
  • Hypotrichosis simplex1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hypotrophy of the small hand muscles3 tests
  • Hypouricemia1 test
  • Hypoventilation1 test
  • Hypsarrhythmia21 tests
  • Hystrix-like ichthyosis with deafness2 tests
  • I blood group system1 test
  • I cell disease6 tests
  • Ichthyosis17 tests
  • Ichthyosis bullosa of Siemens1 test
  • Ichthyosis hystrix, Curth Macklin type1 test
  • Ichthyosis prematurity syndrome2 tests
  • Ichthyosis vulgaris1 test
  • Ichthyosis, congenital, autosomal recessive 111 test
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis3 tests
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis1 test
  • Ichthyosis, spastic quadriplegia, and mental retardation4 tests
  • Idiopathic basal ganglia calcification 12 tests
  • Idiopathic basal ganglia calcification 51 test
  • Idiopathic fibrosing alveolitis, chronic form13 tests
  • Idiopathic generalized epilepsy36 tests
  • Idiopathic hypercalcemia of infancy2 tests
  • Idiopathic hypereosinophilic syndrome2 tests
  • Idiopathic livedo reticularis with systemic involvement1 test
  • IFAP syndrome with or without BRESHECK syndrome3 tests
  • IgA deficiency9 tests
  • Ige responsiveness, atopic9 tests
  • IgG deficiency6 tests
  • IgM deficiency5 tests
  • IL21R immunodeficiency1 test
  • Ileus2 tests
  • Iliac crest serration1 test
  • Imbalanced hemoglobin synthesis1 test
  • Iminoglycinuria3 tests
  • Immotile cilia1 test
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 11 test
  • Immune dysfunction with T-cell inactivation due to calcium entry defect 21 test
  • Immunodeficiency21 tests
  • Immunodeficiency 111 test
  • Immunodeficiency 132 tests
  • Immunodeficiency 141 test
  • Immunodeficiency 161 test
  • Immunodeficiency 171 test
  • Immunodeficiency 181 test
  • Immunodeficiency 191 test
  • Immunodeficiency 201 test
  • Immunodeficiency 27b1 test
  • Immunodeficiency 281 test
  • Immunodeficiency 291 test
  • Immunodeficiency 301 test
  • Immunodeficiency 31a1 test
  • Immunodeficiency 31C1 test
  • Immunodeficiency 32a1 test
  • Immunodeficiency 32b1 test
  • Immunodeficiency 81 test
  • Immunodeficiency due to defect in cd3-zeta1 test
  • Immunodeficiency due to defect in mapbp-interacting protein1 test
  • Immunodeficiency due to ficolin 3 deficiency1 test
  • Immunodeficiency with hyper IgM type 11 test
  • Immunodeficiency with hyper IgM type 21 test
  • Immunodeficiency with hyper IgM type 31 test
  • Immunodeficiency with hyper IgM type 52 tests
  • Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia4 tests
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 22 tests
  • Immunoglobulin A deficiency 21 test
  • Immunoglobulin IgG2 deficiency8 tests
  • Impacted teeth, multiple1 test
  • Impaired ADP-induced platelet aggregation1 test
  • Impaired distal proprioception3 tests
  • Impaired distal tactile sensation1 test
  • Impaired distal vibration sensation4 tests
  • Impaired horizontal smooth pursuit5 tests
  • Impaired pain sensation5 tests
  • Impaired platelet aggregation3 tests
  • Impaired reabsorption of chloride1 test
  • Impaired renal concentrating ability1 test
  • Impaired smooth pursuit8 tests
  • Impaired social interactions4 tests
  • Impaired T cell function1 test
  • Impaired temperature sensation3 tests
  • Impaired thermal sensitivity1 test
  • Impaired vibration sensation in the lower limbs1 test
  • Impaired vibratory sensation2 tests
  • Impdh2 enzyme activity, variation in1 test
  • Impotence2 tests
  • Impulsivity1 test
  • Inability to walk9 tests
  • Inappropriate laughter5 tests
  • Inclusion body myopathy 25 tests
  • Inclusion body myopathy 31 test
  • Inclusion body myopathy with early-onset paget disease and frontotemporal dementia2 tests
  • Incomplete partition of the cochlea type II3 tests
  • Incoordination43 tests
  • Increased analgesia from kappa-opioid receptor agonist, female-specific4 tests
  • Increased antibody level in blood3 tests
  • Increased body weight1 test
  • Increased bone mineral density5 tests
  • Increased cellular sensitivity to UV light1 test
  • Increased cerebral lipofuscin1 test
  • Increased circulating ACTH level1 test
  • Increased circulating cortisol level4 tests
  • Increased circulating gonadotropin level2 tests
  • Increased circulating renin level4 tests
  • Increased connective tissue1 test
  • Increased CSF interferon alpha2 tests
  • Increased CSF lactate10 tests
  • Increased CSF protein4 tests
  • Increased density of long bone diaphyses1 test
  • Increased density of long bones1 test
  • Increased extraneuronal autofluorescent lipopigment2 tests
  • Increased hematocrit4 tests
  • Increased hemoglobin4 tests
  • Increased hepatocellular lipid droplets3 tests
  • Increased intracranial pressure23 tests
  • Increased intramyocellular lipid droplets7 tests
  • Increased jitter at single fibre EMG1 test
  • Increased lacrimation1 test
  • Increased mean platelet volume2 tests
  • Increased muscle lipid content1 test
  • Increased neuronal autofluorescent lipopigment4 tests
  • Increased nuchal translucency4 tests
  • Increased number of teeth14 tests
  • Increased rate of premature chromosome condensation1 test
  • Increased red blood cell mass4 tests
  • Increased red cell hemolysis by shear stress1 test
  • Increased renal tubular phosphate reabsorption2 tests
  • Increased serum beta-hexosaminidase1 test
  • Increased serum ferritin3 tests
  • Increased serum iduronate sulfatase activity1 test
  • Increased serum iron1 test
  • Increased serum lactate27 tests
  • Increased serum prostaglandin E21 test
  • Increased serum pyruvate4 tests
  • Increased total bilirubin1 test
  • Increased upper to lower segment ratio2 tests
  • Increased urinary cortisol level1 test
  • Increased urinary hypoxanthine1 test
  • Increased urinary O-linked sialopeptides1 test
  • Increased urinary potassium1 test
  • Increased urinary sulfite1 test
  • Increased urinary taurine1 test
  • Increased urinary thiosulfate1 test
  • Increased variability in muscle fiber diameter3 tests
  • Increased vertebral height1 test
  • INDIAN BLOOD GROUP SYSTEM1 test
  • Indifference to pain, congenital, autosomal recessive8 tests
  • Infantile axial hypotonia2 tests
  • Infantile cerebellar-retinal degeneration4 tests
  • Infantile convulsions and paroxysmal choreoathetosis, familial8 tests
  • Infantile cortical hyperostosis5 tests
  • Infantile encephalopathy4 tests
  • Infantile epilepsy1 test
  • Infantile GM1 gangliosidosis5 tests
  • Infantile hypophosphatasia3 tests
  • Infantile liver failure syndrome1 test
  • Infantile muscular hypotonia4 tests
  • Infantile myofibromatosis2 tests
  • Infantile myofibromatosis 24 tests
  • Infantile nephronophthisis7 tests
  • Infantile neuroaxonal dystrophy5 tests
  • Infantile nystagmus, X-linked1 test
  • Infantile Parkinsonism-dystonia3 tests
  • Infantile Refsum's disease7 tests
  • Infantile spasms8 tests
  • Infantile-onset ascending hereditary spastic paralysis2 tests
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations1 test
  • Infertility11 tests
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Inflammation of the large intestine1 test
  • Inflammatory abnormality of the eye11 tests
  • Inflammatory bowel disease 12 tests
  • Inflammatory bowel disease 101 test
  • Inflammatory bowel disease 132 tests
  • Inflammatory bowel disease 141 test
  • Inflammatory bowel disease 171 test
  • Inflammatory bowel disease 191 test
  • Inflammatory bowel disease 25, autosomal recessive1 test
  • Inflammatory bowel disease 28, autosomal recessive1 test
  • Inflammatory skin and bowel disease, neonatal 11 test
  • Influenza1 test
  • Inguinal freckling9 tests
  • Inguinal hernia8 tests
  • Inosine triphosphatase deficiency1 test
  • Insomnia4 tests
  • Inspiratory stridor1 test
  • Insulin insensitivity1 test
  • Insulin resistance6 tests
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome3 tests
  • Insulin-like growth factor 1 resistance to2 tests
  • Insulin-like growth factor I deficiency2 tests
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans5 tests
  • Insulinoma3 tests
  • Intellectual disability124 tests
  • intellectual disability with severe speech impairment1 test
  • Intellectual disability, mild23 tests
  • Intellectual disability, moderate7 tests
  • Intellectual disability, profound12 tests
  • Intellectual disability, progressive5 tests
  • Intellectual disability, severe11 tests
  • Intellectual functioning disability27 tests
  • Intention tremor14 tests
  • Interferon gamma receptor deficiency1 test
  • Interleukin 2 receptor, alpha, deficiency of1 test
  • Interleukin 6, serum level of, quantitative trait locus1 test
  • Intermittent hyperventilation4 tests
  • Interrupted aortic arch3 tests
  • Interstitial lung and liver disease1 test
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital2 tests
  • Interstitial nephritis, karyomegalic2 tests
  • Interstitial pneumonitis1 test
  • Interstitial pulmonary abnormality1 test
  • Intervertebral disc disorder12 tests
  • Intestinal atresia1 test
  • Intestinal bleeding7 tests
  • Intestinal carcinoid4 tests
  • Intestinal lymphangiectasia1 test
  • Intestinal malrotation8 tests
  • Intestinal obstruction23 tests
  • Intestinal polyposis22 tests
  • Intestinal pseudo-obstruction3 tests
  • Intestinal pseudoobstruction neuronal chronic idiopathic X-linked6 tests
  • Intimal thickening in the coronary arteries1 test
  • Intracerebral periventricular calcifications1 test
  • Intracranial hemorrhage14 tests
  • Intractable diarrhea11 tests
  • Intractable seizure1 test
  • Intrahepatic biliary dysgenesis2 tests
  • Intrahepatic cholestasis1 test
  • Intraocular melanoma8 tests
  • Intrauterine growth restriction58 tests
  • Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies3 tests
  • Intrinsic factor and r binder, combined congenital deficiency of1 test
  • Intrinsic factor deficiency1 test
  • Intussusception11 tests
  • Invasive pneumococcal disease, recurrent isolated, 12 tests
  • Inverted nipples4 tests
  • Involuntary movements6 tests
  • Iodotyrosine deiodination defect1 test
  • Iodotyrosyl coupling defect1 test
  • IRAK4 deficiency1 test
  • Irido-corneo-trabecular dysgenesis10 tests
  • Irido-fundal coloboma1 test
  • Iridogoniodysgenesis type14 tests
  • Iridogoniodysgenesis, dominant type2 tests
  • Iris atrophy1 test
  • Iris coloboma27 tests
  • Iris hypoplasia and glaucoma3 tests
  • Iron accumulation in brain1 test
  • Iron deficiency anemia9 tests
  • Iron deposition in globus pallidus1 test
  • Irregular capital femoral epiphysis1 test
  • Irregular carpal bones1 test
  • Irregular dentition2 tests
  • Irregular hyperpigmentation23 tests
  • Irregular metacarpals1 test
  • Irregular ossification at anterior rib ends1 test
  • Irregular ossification of hand bones4 tests
  • Irregular vertebral endplates1 test
  • Irritability7 tests
  • Ischemic stroke9 tests
  • Ischiopatellar dysplasia1 test
  • Islet cell hyperplasia9 tests
  • Isolated growth hormone deficiency type 1B2 tests
  • Isolated lutropin deficiency3 tests
  • Isovaleryl-CoA dehydrogenase deficiency2 tests
  • IVIC syndrome2 tests
  • Ivory epiphyses2 tests
  • J-shaped sella turcica1 test
  • Jackson-Weiss syndrome8 tests
  • Jakob-Creutzfeldt disease2 tests
  • Jankovic Rivera syndrome2 tests
  • Jarcho-Levin syndrome4 tests
  • Jaundice6 tests
  • Jaundice, familial obstructive, of infancy6 tests
  • Jejunoileal ulceration1 test
  • Jensen syndrome5 tests
  • Jerk-locked premyoclonus spikes1 test
  • Jerky ocular pursuit movements1 test
  • Jervell and Lange-Nielsen syndrome10 tests
  • Jervell and Lange-Nielsen syndrome 29 tests
  • Jeune thoracic dystrophy1 test
  • Johanson-Blizzard syndrome1 test
  • John Milton Hagen blood group system1 test
  • Joint contracture of the hand5 tests
  • Joint dislocation5 tests
  • Joint hemorrhage1 test
  • Joint hypermobility33 tests
  • Joint laxity11 tests
  • Joint stiffness2 tests
  • Joint swelling10 tests
  • Joint swelling onset late infancy1 test
  • Joubert syndrome33 tests
  • Joubert syndrome 108 tests
  • Joubert syndrome 133 tests
  • Joubert syndrome 143 tests
  • Joubert syndrome 154 tests
  • Joubert syndrome 163 tests
  • Joubert syndrome 171 test
  • Joubert syndrome 27 tests
  • Joubert syndrome 38 tests
  • Joubert syndrome 410 tests
  • Joubert syndrome 514 tests
  • Joubert syndrome 68 tests
  • Joubert syndrome 711 tests
  • Joubert syndrome 86 tests
  • Joubert syndrome 99 tests
  • Junctional epidermolysis bullosa gravis of Herlitz4 tests
  • Juvenile colonic polyposis4 tests
  • Juvenile cortical cataract2 tests
  • Juvenile gastrointestinal polyposis4 tests
  • Juvenile macular degeneration and hypotrichosis4 tests
  • Juvenile myelomonocytic leukemia24 tests
  • Juvenile myoclonic epilepsy6 tests
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile nephropathic cystinosis2 tests
  • Juvenile neuronal ceroid lipofuscinosis9 tests
  • Juvenile onset19 tests
  • Juvenile polyposis syndrome14 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome14 tests
  • Juvenile posterior subcapsular lenticular opacities2 tests
  • Juvenile primary lateral sclerosis2 tests
  • Juvenile retinoschisis5 tests
  • Juvenile zonular cataracts2 tests
  • Juvenile-onset dystonia3 tests
  • Kabuki syndrome1 test
  • Kabuki syndrome 14 tests
  • Kabuki syndrome 21 test
  • Kahrizi syndrome3 tests
  • Kallikrein, decreased urinary activity of1 test
  • Kallmann syndrome 13 tests
  • Kallmann syndrome 26 tests
  • Kallmann syndrome 33 tests
  • Kallmann syndrome 55 tests
  • Kallmann syndrome 64 tests
  • Kanzaki disease3 tests
  • Karak syndrome1 test
  • Kartagener syndrome18 tests
  • KAT6A syndrome1 test
  • Kaufman oculocerebrofacial syndrome1 test
  • KBG syndrome2 tests
  • Kell blood group system1 test
  • Keloids7 tests
  • Kenny-Caffey syndrome1 test
  • Kenny-Caffey syndrome type 13 tests
  • Keppen-Lubinsky syndrome1 test
  • Keratan sulfate excretion in urine2 tests
  • Keratitis2 tests
  • Keratitis, hereditary7 tests
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant2 tests
  • Keratoconjunctivitis sicca2 tests
  • Keratoconus 11 test
  • Keratoderma palmoplantar deafness2 tests
  • Keratosis follicularis3 tests
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma1 test
  • Keratosis palmoplantaris striata 11 test
  • Keratosis palmoplantaris striata 31 test
  • Keratosis palmoplantaris striata II7 tests
  • Keratosis pilaris decalvans4 tests
  • Keratosis, seborrheic2 tests
  • Ketoacidosis1 test
  • Ketonuria1 test
  • Ketosis1 test
  • Keutel syndrome2 tests
  • Kindler's syndrome1 test
  • Klein-Waardenberg's syndrome3 tests
  • Klippel-Feil syndrome 1, autosomal dominant1 test
  • Klippel-Feil syndrome 3, autosomal dominant1 test
  • Knee clonus1 test
  • Knee flexion contracture6 tests
  • Kniest dysplasia8 tests
  • Knobloch syndrome 13 tests
  • Knuckle pads, deafness AND leukonychia syndrome2 tests
  • Kohlschutter's syndrome5 tests
  • Koolen-de Vries syndrome4 tests
  • Kowarski syndrome1 test
  • Krabbe disease atypical due to Saposin A deficiency4 tests
  • Kuru, susceptibility to2 tests
  • Kyphoscoliosis13 tests
  • Kyphosis32 tests
  • L-2-hydroxyglutaric acidemia1 test
  • L-2-hydroxyglutaric aciduria6 tests
  • L-ferritin deficiency1 test
  • Lack of skin elasticity8 tests
  • Lack of subcutaneous fatty tissue2 tests
  • Lacrimal duct atresia1 test
  • Lacrimal duct defect1 test
  • Lacrimal gland aplasia1 test
  • Lacrimal gland hypoplasia1 test
  • Lacrimation abnormality11 tests
  • Lactate dehydrogenase B deficiency2 tests
  • Lactic acidosis24 tests
  • Lafora disease6 tests
  • Lambdoidal craniosynostosis3 tests
  • Landsteiner-Wiener phenotype1 test
  • Langer mesomelic dysplasia syndrome1 test
  • Langer-Giedion syndrome1 test
  • Langereis blood group2 tests
  • Language impairment6 tests
  • Large basal ganglia2 tests
  • Large beaked nose3 tests
  • Large earlobe10 tests
  • Large eyes7 tests
  • Large face5 tests
  • Large fontanelles9 tests
  • Large for gestational age6 tests
  • Large foramen magnum1 test
  • Large forehead2 tests
  • Large hands11 tests
  • Large hyperpigmented retinal spots1 test
  • Large sella turcica1 test
  • Laron-type isolated somatotropin defect2 tests
  • Larsen syndrome, dominant type2 tests
  • Laryngeal calcification1 test
  • Laryngeal carcinoma11 tests
  • Laryngeal cleft1 test
  • Laryngeal stridor2 tests
  • Laryngomalacia8 tests
  • Laryngoonychocutaneous syndrome2 tests
  • Laryngotracheal stenosis4 tests
  • Late-onset distal muscle weakness1 test
  • Late-onset retinal degeneration1 test
  • Lateral femoral bowing1 test
  • Lathosterolosis1 test
  • Lattice corneal dystrophy type 3A1 test
  • Lattice corneal dystrophy Type I1 test
  • Lattice corneal dystrophy Type III1 test
  • Laurin-Sandrow syndrome1 test
  • Lchad deficiency with maternal acute fatty liver of pregnancy1 test
  • Leanness, inherited1 test
  • learning disabilities1 test
  • Leber congenital amaurosis1 test
  • Leber congenital amaurosis 15 tests
  • Leber congenital amaurosis 1014 tests
  • Leber congenital amaurosis 114 tests
  • Leber congenital amaurosis 123 tests
  • Leber congenital amaurosis 134 tests
  • Leber congenital amaurosis 144 tests
  • Leber congenital amaurosis 154 tests
  • Leber congenital amaurosis 163 tests
  • Leber congenital amaurosis 171 test
  • Leber congenital amaurosis 24 tests
  • Leber congenital amaurosis 34 tests
  • Leber congenital amaurosis 45 tests
  • Leber congenital amaurosis 53 tests
  • Leber congenital amaurosis 64 tests
  • Leber congenital amaurosis 75 tests
  • Leber congenital amaurosis 84 tests
  • Leber congenital amaurosis 91 test
  • Left anterior fascicular block3 tests
  • Left bundle branch block2 tests
  • Left posterior fascicular block2 tests
  • Left ventricular failure1 test
  • Left ventricular hypertrophy4 tests
  • Left ventricular noncompaction4 tests
  • Left ventricular noncompaction 15 tests
  • Left ventricular noncompaction 104 tests
  • Left ventricular noncompaction 66 tests
  • Left-right axis malformations1 test
  • Leg muscle stiffness1 test
  • Legionellosis1 test
  • Legius syndrome7 tests
  • Lehman syndrome1 test
  • Leigh syndrome35 tests
  • Leigh Syndrome (nuclear DNA mutation)1 test
  • Leigh syndrome due to mitochondrial complex I deficiency3 tests
  • Leigh syndrome due to mitochondrial complex III deficiency2 tests
  • Leigh syndrome, French Canadian type5 tests
  • Leiner disease1 test
  • Lens subluxation2 tests
  • Lenz microphthalmia syndrome4 tests
  • LEOPARD syndrome 110 tests
  • LEOPARD syndrome 26 tests
  • LEOPARD syndrome 38 tests
  • Leprechaunism syndrome5 tests
  • Leprosy 23 tests
  • Leprosy 31 test
  • Leprosy 41 test
  • Leprosy 51 test
  • Leptin deficiency or dysfunction2 tests
  • Leptin receptor deficiency2 tests
  • Lesch-Nyhan syndrome3 tests
  • Lethal arthrogryposis with anterior horn cell disease1 test
  • Lethal congenital contractural syndrome 31 test
  • Lethal congenital contracture syndrome 11 test
  • Lethal congenital contracture syndrome 21 test
  • Lethal congenital contracture syndrome 41 test
  • Lethal congenital contracture syndrome 52 tests
  • Lethal Kniest-like syndrome2 tests
  • Lethal multiple pterygium syndrome4 tests
  • Lethal short-limbed short stature1 test
  • Lethal skeletal dysplasia1 test
  • Lethal tight skin contracture syndrome16 tests
  • Lethargy4 tests
  • Leucine-induced hypoglycemia8 tests
  • Leukemia21 tests
  • Leukemia, acute lymphoblastic, susceptibility to8 tests
  • Leukemia, acute lymphoblastic, susceptibility to, 31 test
  • Leukemia, acute myeloid, susceptibility to2 tests
  • Leukemia, megakaryoblastic, of Down syndrome1 test
  • Leukemia, post-chemotherapy, susceptibility to1 test
  • Leukocoria4 tests
  • Leukocyte adhesion deficiency type 11 test
  • Leukocyte adhesion deficiency, type III2 tests
  • Leukocytosis4 tests
  • Leukodystrophy8 tests
  • Leukodystrophy, adult-onset, autosomal dominant2 tests
  • Leukodystrophy, hypomyelinating 31 test
  • Leukodystrophy, hypomyelinating, 22 tests
  • Leukodystrophy, hypomyelinating, 44 tests
  • Leukoencephalopathy8 tests
  • Leukoencephalopathy with ataxia3 tests
  • Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation6 tests
  • Leukoencephalopathy with dystonia and motor neuropathy4 tests
  • Leukoencephalopathy with vanishing white matter8 tests
  • Leukoencephalopathy, cystic, without megalencephaly1 test
  • Leukoencephalopathy, progressive, with ovarian failure1 test
  • Leukonychia1 test
  • Leukonychia totalis1 test
  • Leukopenia17 tests
  • Leukotriene c4 synthase deficiency1 test
  • Levy-Hollister syndrome8 tests
  • Lewy bodies1 test
  • Lewy body dementia6 tests
  • Leydig cell adenoma, somatic, with male-limited precocious puberty1 test
  • Leydig cell agenesis2 tests
  • Leydig cell hypoplasia, partial1 test
  • Lhermitte-Duclos disease8 tests
  • Li-Fraumeni syndrome15 tests
  • Li-Fraumeni syndrome 19 tests
  • Li-Fraumeni syndrome 29 tests
  • Li-Fraumeni-like syndrome14 tests
  • Lichenification2 tests
  • Lichtenstein-knorr syndrome1 test
  • Liebenberg syndrome2 tests
  • Lig4 syndrome5 tests
  • Limb ataxia9 tests
  • Limb deficiencies distal with micrognathia1 test
  • Limb dysmetria1 test
  • Limb dystonia5 tests
  • Limb hypertonia4 tests
  • Limb joint contracture4 tests
  • Limb muscle weakness5 tests
  • Limb pain2 tests
  • Limb tremor4 tests
  • Limb undergrowth5 tests
  • Limb-girdle muscle weakness2 tests
  • Limb-girdle muscular dystrophy6 tests
  • Limb-girdle muscular dystrophy, type 1A6 tests
  • Limb-girdle muscular dystrophy, type 1B15 tests
  • Limb-girdle muscular dystrophy, type 1C11 tests
  • Limb-girdle muscular dystrophy, type 1E4 tests
  • Limb-girdle muscular dystrophy, type 2A4 tests
  • Limb-girdle muscular dystrophy, type 2B5 tests
  • Limb-girdle muscular dystrophy, type 2D5 tests
  • Limb-girdle muscular dystrophy, type 2E4 tests
  • Limb-girdle muscular dystrophy, type 2F8 tests
  • Limb-girdle muscular dystrophy, type 2G9 tests
  • Limb-girdle muscular dystrophy, type 2J9 tests
  • Limb-girdle muscular dystrophy, type 2L6 tests
  • Limb-girdle muscular dystrophy, type 2Q3 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C110 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C28 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C37 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C411 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C58 tests
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C93 tests
  • Limb-mammary syndrome3 tests
  • Limitation of joint mobility29 tests
  • Limited elbow extension3 tests
  • Limited elbow movement6 tests
  • Limited extraocular movements1 test
  • Limited hip extension1 test
  • Limited knee extension1 test
  • Limited knee flexion1 test
  • Limited shoulder movement2 tests
  • Linear skin defects with multiple congenital anomalies 13 tests
  • Lip hyperpigmentation6 tests
  • Lip pit3 tests
  • Lip telangiectasia1 test
  • Lipase deficiency combined1 test
  • Lipid accumulation in hepatocytes1 test
  • Lipid proteinosis1 test
  • Lipoatrophy11 tests
  • Lipodystrophy5 tests
  • Lipodystrophy, congenital generalized, type 34 tests
  • Lipodystrophy, congenital generalized, type 43 tests
  • Lipoma8 tests
  • Lipoprotein glomerulopathy2 tests
  • Lisch nodules9 tests
  • Lissencephaly10 tests
  • Lissencephaly 18 tests
  • Lissencephaly 24 tests
  • Lissencephaly 2, X-linked8 tests
  • Lissencephaly 35 tests
  • Lissencephaly 43 tests
  • Lissencephaly 51 test
  • Lissencephaly, X-linked11 tests
  • Liver failure acute infantile4 tests
  • Lobulated tongue5 tests
  • Localized skin lesion1 test
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 23 tests
  • Loeys-Dietz syndrome 32 tests
  • Loeys-Dietz syndrome 44 tests
  • Loeys-Dietz syndrome 52 tests
  • Long clavicles1 test
  • Long eyelashes12 tests
  • Long face21 tests
  • Long fingers2 tests
  • Long foot2 tests
  • Long hallux5 tests
  • Long neck1 test
  • Long nose12 tests
  • Long palm2 tests
  • Long palpebral fissure6 tests
  • Long penis11 tests
  • Long phalanx of finger1 test
  • Long philtrum35 tests
  • Long QT syndrome74 tests
  • Long QT syndrome 111 tests
  • Long QT syndrome 107 tests
  • Long QT syndrome 115 tests
  • Long QT syndrome 125 tests
  • Long QT syndrome 134 tests
  • Long QT syndrome 28 tests
  • Long QT syndrome 310 tests
  • Long QT syndrome 59 tests
  • Long QT syndrome 68 tests
  • Long QT syndrome 911 tests
  • Long thorax1 test
  • Long toe3 tests
  • Long upper lip6 tests
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency4 tests
  • Long-chain dicarboxylic aciduria1 test
  • Loose anagen hair1 test
  • Loss of ability to walk1 test
  • Loss of ability to walk in first decade4 tests
  • Loss of Purkinje cells in the cerebellar vermis1 test
  • Loss of speech2 tests
  • Loss of voice4 tests
  • Low anterior hairline16 tests
  • Low back pain1 test
  • Low cholesterol esterification rates1 test
  • Low density lipoprotein cholesterol level quantitative trait locus 61 test
  • Low frustration tolerance2 tests
  • Low hanging columella5 tests
  • Low posterior hairline18 tests
  • Low-set ears49 tests
  • Low-set, posteriorly rotated ears49 tests
  • Low-to-normal blood pressure1 test
  • Lowe syndrome2 tests
  • Lower eyelid coloboma1 test
  • Lower limb asymmetry8 tests
  • Lower limb hyperreflexia5 tests
  • Lower limb hypertonia2 tests
  • Lower limb muscle weakness14 tests
  • Lower limb spasticity8 tests
  • Lower thoracic interpediculate narrowness1 test
  • Lucey-Driscoll syndrome9 tests
  • LuLu phenotype1 test
  • Lumbar hyperlordosis3 tests
  • Lumbar kyphosis in infancy1 test
  • Lumbar scoliosis1 test
  • Lumbosacral myelomeningocele1 test
  • Lung adenocarcinoma14 tests
  • Lung cancer29 tests
  • Lung segmentation defects5 tests
  • Luteinizing hormone resistance, female1 test
  • Lymphadenopathy23 tests
  • Lymphangioma13 tests
  • Lymphangiomyomatosis17 tests
  • Lymphedema23 tests
  • Lymphedema, hereditary, IC2 tests
  • Lymphedema, primary, with myelodysplasia3 tests
  • Lymphoedema2 tests
  • Lymphoma26 tests
  • Lymphopenia17 tests
  • Lymphoproliferative disorder2 tests
  • Lymphoproliferative syndrome 11 test
  • Lymphoproliferative syndrome 1, X-linked2 tests
  • Lymphoproliferative syndrome 21 test
  • Lymphoproliferative syndrome 2, X-linked1 test
  • Lynch syndrome22 tests
  • Lynch syndrome I7 tests
  • Lynch syndrome II8 tests
  • Lysinuric protein intolerance2 tests
  • Lysosomal acid lipase deficiency1 test
  • Macrocephaly47 tests
  • Macrocephaly, alopecia, cutis laxa, and scoliosis1 test
  • Macrocephaly, macrosomia, facial dysmorphism syndrome1 test
  • Macrocephaly/autism syndrome18 tests
  • Macrocytic anemia5 tests
  • Macrodactyly8 tests
  • Macrodactyly of finger8 tests
  • Macrodontia4 tests
  • Macrodontia of permanent maxillary central incisor2 tests
  • Macroglossia13 tests
  • Macrogyria2 tests
  • Macronodular adrenal hyperplasia1 test
  • Macroorchidism4 tests
  • Macrothrombocytopenia and progressive sensorineural deafness3 tests
  • MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED1 test
  • Macrotia30 tests
  • Macrovesicular hepatic steatosis1 test
  • Macular atrophy2 tests
  • Macular corneal dystrophy Type I1 test
  • Macular degeneration3 tests
  • Macular degeneration, age-related, 151 test
  • Macular degeneration, X-linked atrophic5 tests
  • Macular dystrophy3 tests
  • Macular dystrophy with central cone involvement2 tests
  • Macular dystrophy, vitelliform, adult-onset7 tests
  • Macular edema2 tests
  • Macular hypoplasia1 test
  • Macular schisis4 tests
  • Madelung deformity2 tests
  • Madelung-like forearm deformities1 test
  • Majeed syndrome2 tests
  • Major affective disorder 12 tests
  • Major affective disorder 71 test
  • Major depressive disorder6 tests
  • Malabsorption32 tests
  • Malar flattening37 tests
  • Malar prominence6 tests
  • Malaria, mild, susceptibility to1 test
  • Male hypogonadism1 test
  • Male infertility4 tests
  • Male pseudohermaphroditism8 tests
  • Malformation of the heart and great vessels36 tests
  • Malignant eosinophil proliferation1 test
  • Malignant genitourinary tract tumor11 tests
  • malignant granular cell tumor1 test
  • Malignant hyperthermia3 tests
  • Malignant hyperthermia susceptibility4 tests
  • Malignant hyperthermia susceptibility type 52 tests
  • Malignant lymphoma, non-Hodgkin20 tests
  • Malignant melanoma17 tests
  • Malignant melanoma of skin16 tests
  • Malignant tumor of esophagus6 tests
  • Malignant tumor of prostate312 tests
  • Malignant tumor of testis18 tests
  • Malignant tumor of urinary bladder28 tests
  • Malnutrition4 tests
  • Malrotation of colon1 test
  • Mandibular condyle aplasia1 test
  • Mandibular condyle hypoplasia1 test
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome4 tests
  • Mandibular pain4 tests
  • Mandibular prognathia26 tests
  • Mandibuloacral dysostosis15 tests
  • Mandibuloacral dysplasia with type B lipodystrophy3 tests
  • Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive1 test
  • Mannose-binding protein deficiency1 test
  • Mantle cell lymphoma8 tests
  • Maple syrup urine disease9 tests
  • Maple syrup urine disease, type 35 tests
  • Marden Walker like syndrome1 test
  • Marden-Walker syndrome1 test
  • Marfan syndrome7 tests
  • Marinesco-Sjögren syndrome3 tests
  • Marked Hypotonia1 test
  • Marles Greenberg Persaud syndrome1 test
  • Marshall syndrome7 tests
  • Marshall-Smith syndrome1 test
  • Martsolf syndrome1 test
  • Mask-like facies3 tests
  • MASP2 deficiency1 test
  • MASS syndrome5 tests
  • Mast cell disease, systemic3 tests
  • Mast cell leukemia3 tests
  • Mast syndrome2 tests
  • Mastocytosis5 tests
  • Mastoiditis6 tests
  • Maternal diabetes1 test
  • Maturity onset diabetes mellitus in young5 tests
  • Maturity-onset diabetes of the young3 tests
  • Maturity-onset diabetes of the young, type 14 tests
  • Maturity-onset diabetes of the young, type 26 tests
  • Maturity-onset diabetes of the young, type 104 tests
  • Maturity-onset diabetes of the young, type 112 tests
  • Maturity-onset diabetes of the young, type 33 tests
  • Maturity-onset diabetes of the young, type 45 tests
  • Maturity-onset diabetes of the young, type 63 tests
  • Maturity-onset diabetes of the young, type 83 tests
  • Maturity-onset diabetes of the young, type 92 tests
  • May-Hegglin anomaly3 tests
  • McCune-Albright syndrome5 tests
  • McKusick Kaufman syndrome7 tests
  • McLeod neuroacanthocytosis syndrome1 test
  • Meacham syndrome5 tests
  • Meckel diverticulum12 tests
  • Meckel syndrome type 19 tests
  • Meckel syndrome type 27 tests
  • Meckel syndrome type 38 tests
  • Meckel syndrome type 414 tests
  • Meckel syndrome type 511 tests
  • Meckel syndrome type 613 tests
  • Meckel syndrome type 79 tests
  • Meckel syndrome type 84 tests
  • Meckel syndrome, type 103 tests
  • Meckel syndrome, type 94 tests
  • Meckel-Gruber syndrome4 tests
  • Meconium ileus1 test
  • MECP2 duplication syndrome19 tests
  • Medial flaring of the eyebrow3 tests
  • Median cleft lip6 tests
  • Median cleft lip and palate4 tests
  • Median cleft palate1 test
  • Mediastinal lymphadenopathy5 tests
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency4 tests
  • Medullary cystic kidney disease 11 test
  • Medullary cystic kidney disease 22 tests
  • Medullary thyroid carcinoma3 tests
  • Medulloblastoma25 tests
  • Meesman's corneal dystrophy2 tests
  • Megacystis1 test
  • Megakaryocytopenia1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts1 test
  • Megalencephalic leukoencephalopathy with subcortical cysts 15 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2a3 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation3 tests
  • Megalencephaly4 tests
  • Megalencephaly cutis marmorata telangiectatica congenita1 test
  • Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 15 tests
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21 test
  • Megaloblastic anemia2 tests
  • Megaloblastic anemia due to dihydrofolate reductase deficiency4 tests
  • Megaloblastic anemia due to inborn errors of metabolism2 tests
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness2 tests
  • Megalocornea3 tests
  • Meier-Gorlin syndrome4 tests
  • Meier-Gorlin syndrome 23 tests
  • Meier-Gorlin syndrome 33 tests
  • Meier-Gorlin syndrome 43 tests
  • Meier-Gorlin syndrome 53 tests
  • Melanocytic nevus22 tests
  • Melanoma20 tests
  • Melanoma astrocytoma syndrome5 tests
  • Melanoma, cutaneous malignant, susceptibility to, 106 tests
  • Melanoma-pancreatic cancer syndrome14 tests
  • Melioidosis, susceptibility to1 test
  • Melnick-Fraser syndrome3 tests
  • Melnick-Needles syndrome7 tests
  • Melorheostosis2 tests
  • Membranoproliferative glomerulonephritis1 test
  • Membranous nephropathy1 test
  • Memory impairment21 tests
  • Memory quantitative trait locus1 test
  • MEN2 phenotype: Unclassified3 tests
  • MEN2 phenotype: Unknown3 tests
  • Meningioma18 tests
  • Meningioma, familial14 tests
  • Meningitis1 test
  • Meningocele3 tests
  • Meningoencephalocele1 test
  • Menkes kinky-hair syndrome5 tests
  • Menorrhagia1 test
  • Menstrual irregularities5 tests
  • Mental deterioration13 tests
  • Mental retardation 17, X-linked5 tests
  • Mental retardation 21, X-linked3 tests
  • Mental retardation 30, X-linked4 tests
  • Mental retardation 46, X-linked3 tests
  • Mental retardation 58, X-linked3 tests
  • Mental retardation 63, X-linked4 tests
  • Mental retardation 9, X-linked3 tests
  • Mental retardation 91, X-linked2 tests
  • Mental retardation 92, X-linked1 test
  • Mental retardation 95, X-linked3 tests
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia9 tests
  • Mental retardation with language impairment and with or without autistic features3 tests
  • Mental retardation with panhypopituitarism, X-linked3 tests
  • Mental retardation X-linked syndromic 71 test
  • Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance8 tests
  • Mental retardation, anterior maxillary protrusion, and strabismus2 tests
  • Mental retardation, autosomal dominant 14 tests
  • Mental retardation, autosomal dominant 102 tests
  • Mental retardation, autosomal dominant 111 test
  • Mental retardation, autosomal dominant 122 tests
  • Mental retardation, autosomal dominant 134 tests
  • Mental retardation, autosomal dominant 142 tests
  • Mental retardation, autosomal dominant 154 tests
  • Mental retardation, autosomal dominant 162 tests
  • Mental retardation, autosomal dominant 193 tests
  • Mental retardation, autosomal dominant 21 test
  • Mental retardation, autosomal dominant 261 test
  • Mental retardation, autosomal dominant 32 tests
  • Mental retardation, autosomal dominant 43 tests
  • Mental retardation, autosomal dominant 53 tests
  • Mental retardation, autosomal dominant 64 tests
  • Mental retardation, autosomal dominant 72 tests
  • Mental retardation, autosomal dominant 83 tests
  • Mental retardation, autosomal dominant 94 tests
  • Mental retardation, autosomal recessive 12 tests
  • Mental retardation, autosomal recessive 121 test
  • Mental retardation, autosomal recessive 133 tests
  • Mental retardation, autosomal recessive 142 tests
  • Mental retardation, autosomal recessive 152 tests
  • Mental retardation, autosomal recessive 183 tests
  • Mental retardation, autosomal recessive 22 tests
  • Mental retardation, autosomal recessive 271 test
  • Mental retardation, autosomal recessive 32 tests
  • Mental retardation, autosomal recessive 342 tests
  • Mental retardation, autosomal recessive 371 test
  • Mental retardation, autosomal recessive 381 test
  • Mental retardation, autosomal recessive 391 test
  • Mental retardation, autosomal recessive 401 test
  • Mental retardation, autosomal recessive 52 tests
  • Mental retardation, autosomal recessive 62 tests
  • Mental retardation, autosomal recessive 73 tests
  • Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma2 tests
  • Mental retardation, fra12a type2 tests
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations9 tests
  • Mental retardation, syndromic 14, X-linked3 tests
  • Mental retardation, syndromic, Claes-Jensen type, X-linked7 tests
  • Mental retardation, with or without seizures, ARX-related, X-linked8 tests
  • Mental retardation, X-linked 13 tests
  • Mental retardation, X-linked 142 tests
  • Mental retardation, X-linked 193 tests
  • Mental retardation, X-linked 452 tests
  • Mental retardation, X-linked 725 tests
  • Mental retardation, X-linked 933 tests
  • Mental retardation, X-linked 964 tests
  • Mental retardation, X-linked 981 test
  • Mental retardation, X-linked 992 tests
  • Mental retardation, X-linked, syndromic 106 tests
  • Mental retardation, X-linked, syndromic 1315 tests
  • Mental retardation, X-linked, syndromic 322 tests
  • Mental retardation, X-linked, syndromic, Hedera type4 tests
  • Mental retardation, X-linked, syndromic, martin-probst type2 tests
  • Mental retardation, X-linked, syndromic, Raymond type3 tests
  • Mental retardation, X-linked, syndromic, turner type3 tests
  • Mental retardation, X-linked, syndromic, wu type4 tests
  • Mental retardation-hypotonic facies syndrome X-linked, 18 tests
  • Meretoja syndrome1 test
  • Merkel cell carcinoma5 tests
  • Merosin deficient congenital muscular dystrophy6 tests
  • Mesoaxial foot polydactyly1 test
  • Mesoaxial hand polydactyly1 test
  • Mesomelia3 tests
  • Mesomelia-synostoses syndrome1 test
  • Mesomelic arm shortening1 test
  • Mesomelic leg shortening1 test
  • Mesothelioma2 tests
  • Mesothelioma, malignant6 tests
  • Metabolic acidosis15 tests
  • Metabolic alkalosis1 test
  • Metabolic ketoacidosis1 test
  • Metabolic syndrome X2 tests
  • Metachondromatosis12 tests
  • Metachromatic leukodystrophy5 tests
  • Metaphyseal anadysplasia 22 tests
  • Metaphyseal chondrodysplasia1 test
  • Metaphyseal chondrodysplasia, Jansen type2 tests
  • Metaphyseal chondrodysplasia, McKusick type2 tests
  • Metaphyseal chondrodysplasia, Schmid type2 tests
  • Metaphyseal cupping4 tests
  • Metaphyseal cupping of metacarpals1 test
  • Metaphyseal cupping of proximal phalanges1 test
  • Metaphyseal dysplasia4 tests
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly2 tests
  • Metaphyseal dysplasia without hypotrichosis2 tests
  • Metaphyseal irregularity4 tests
  • Metaphyseal sclerosis1 test
  • Metaphyseal widening3 tests
  • Metatarsus adductus5 tests
  • Metatrophic dysplasia5 tests
  • Methemoglobinemia type 42 tests
  • METHYLCOBALAMIN DEFICIENCY, cblG TYPE3 tests
  • Methylmalonate semialdehyde dehydrogenase deficiency4 tests
  • Methylmalonic acidemia1 test
  • Methylmalonic acidemia with homocystinuria5 tests
  • Methylmalonic acidemia with homocystinuria cblD6 tests
  • Methylmalonic aciduria1 test
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE6 tests
  • METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE1 test
  • Methylmalonic aciduria cblA type4 tests
  • Methylmalonic aciduria cblB type4 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency4 tests
  • Methylmalonic aciduria due to transcobalamin receptor defect3 tests
  • Methylmalonyl-CoA epimerase deficiency4 tests
  • Metopic suture patent to nasal root1 test
  • Metopic synostosis1 test
  • Mevalonic aciduria2 tests
  • Michels syndrome1 test
  • Microcephalic osteodysplastic primordial dwarfism type 26 tests
  • Microcephaly129 tests
  • Microcephaly with chorioretinopathy, autosomal recessive1 test
  • Microcephaly with mental retardation and digital anomalies4 tests
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation3 tests
  • Microcephaly, cortical malformations, and mental retardation1 test
  • Microcephaly, epilepsy, and diabetes syndrome3 tests
  • Microcephaly, normal intelligence and immunodeficiency10 tests
  • Microcephaly, postnatal progressive, with seizures and brain atrophy6 tests
  • Microcephaly, short stature, and polymicrogyria with or without seizures1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Microcolon1 test
  • Microcornea16 tests
  • Microcornea, myopic chorioretinal atrophy, and telecanthus1 test
  • Microcytic anemia8 tests
  • Microdontia10 tests
  • Microglossia2 tests
  • Micrognathia80 tests
  • Microhydranencephaly1 test
  • Micromelia15 tests
  • Micronodular cirrhosis20 tests
  • Micropenis20 tests
  • Microphallus2 tests
  • Microphthalmia syndromic 35 tests
  • Microphthalmia syndromic 53 tests
  • Microphthalmia syndromic 61 test
  • Microphthalmia syndromic 92 tests
  • Microphthalmia, isolated 22 tests
  • Microphthalmia, isolated 31 test
  • Microphthalmia, isolated 41 test
  • Microphthalmia, isolated 52 tests
  • Microphthalmia, isolated 63 tests
  • Microphthalmia, isolated 71 test
  • Microphthalmia, isolated, with coloboma1 test
  • Microphthalmia, isolated, with coloboma 32 tests
  • Microphthalmia, isolated, with coloboma 54 tests
  • Microphthalmia, isolated, with coloboma 62 tests
  • Microphthalmia, isolated, with coloboma 72 tests
  • Microphthalmia, syndromic 111 test
  • Microphthalmos26 tests
  • Microretrognathia6 tests
  • Microspherophakia2 tests
  • Microtia17 tests
  • Microtia, first degree1 test
  • Microtia, hearing impairment, and cleft palate1 test
  • Microvascular complications of diabetes 11 test
  • Microvascular complications of diabetes 21 test
  • Microvascular complications of diabetes 32 tests
  • Microvascular complications of diabetes 41 test
  • Microvascular complications of diabetes 51 test
  • Microvascular complications of diabetes 61 test
  • Microvascular complications of diabetes 71 test
  • Microvesicular hepatic steatosis4 tests
  • Midface capillary hemangioma3 tests
  • Midface retrusion19 tests
  • Midfrontal capillary hemangioma1 test
  • Midline defect of the nose5 tests
  • Midline facial capillary hemangioma1 test
  • Midline facial cleft2 tests
  • Midnasal stenosis1 test
  • Migraine44 tests
  • Migraine with aura4 tests
  • Migraine, familial basilar3 tests
  • Migraine, sporadic hemiplegic3 tests
  • Migraine, with or without aura 131 test
  • Mild global developmental delay1 test
  • Mild short stature3 tests
  • Mildly elevated creatine phosphokinase5 tests
  • Milia5 tests
  • Miller Dieker syndrome6 tests
  • Miller syndrome2 tests
  • Minicore myopathy with external ophthalmoplegia4 tests
  • Mirror movements 11 test
  • Mirror movements 22 tests
  • Misalignment of teeth1 test
  • Missing ribs2 tests
  • Mitchell-Riley syndrome1 test
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2 tests
  • Mitochondrial complex I deficiency29 tests
  • Mitochondrial complex II deficiency15 tests
  • Mitochondrial complex III deficiency10 tests
  • Mitochondrial complex III deficiency, nuclear type 22 tests
  • Mitochondrial complex III deficiency, nuclear type 33 tests
  • Mitochondrial complex III deficiency, nuclear type 42 tests
  • Mitochondrial diseases6 tests
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial DNA depletion syndrome 1 (MNGIE type)7 tests
  • Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive2 tests
  • Mitochondrial DNA depletion syndrome 26 tests
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type10 tests
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)8 tests
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)5 tests
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)8 tests
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy7 tests
  • Mitochondrial DNA-depletion syndrome 3, hepatocerebral5 tests
  • Mitochondrial encephalomyopathy4 tests
  • Mitochondrial myopathy16 tests
  • Mitochondrial myopathy with lactic acidosis1 test
  • Mitochondrial phosphate carrier deficiency3 tests
  • Mitochondrial pyruvate carrier deficiency1 test
  • Mitochondrial respiratory chain defects1 test
  • Mitochondrial trifunctional protein deficiency6 tests
  • Mitral regurgitation10 tests
  • Mitral stenosis5 tests
  • Mitral valve prolapse12 tests
  • Mixed hearing impairment1 test
  • Miyoshi muscular dystrophy 15 tests
  • Miyoshi muscular dystrophy 36 tests
  • Moderate sensorineural hearing impairment1 test
  • Moderate visual impairment1 test
  • Mohr-Tranebjaerg syndrome5 tests
  • Molar tooth sign on MRI6 tests
  • Molybdenum cofactor deficiency1 test
  • Molybdenum cofactor deficiency, complementation group B1 test
  • Molybdenum cofactor deficiency, complementation group C1 test
  • Monoamine oxidase A deficiency3 tests
  • Monocytopenia2 tests
  • Monocytosis2 tests
  • Mononeuropathy of the median nerve, mild3 tests
  • Mood changes5 tests
  • Mood swings3 tests
  • Morbid obesity1 test
  • MORM syndrome1 test
  • Morphological abnormality of the central nervous system1 test
  • Morphological abnormality of the middle ear1 test
  • Morphological abnormality of the pyramidal tract4 tests
  • Mosaic variegated aneuploidy syndrome 19 tests
  • Mosaic variegated aneuploidy syndrome 22 tests
  • Motor axonal neuropathy1 test
  • Motor delay30 tests
  • Motor deterioration4 tests
  • Motor tics1 test
  • Mottled pigmentation2 tests
  • Mowat-Wilson syndrome9 tests
  • Moyamoya disease2 tests
  • Moyamoya disease 21 test
  • Moyamoya disease 52 tests
  • Moyamoya phenomenon1 test
  • MTHFR deficiency, thermolabile type1 test
  • Mucolipidosis III alpha/beta, atypical1 test
  • Mucolipidosis III Gamma8 tests
  • Mucopolysaccharidosis3 tests
  • Mucopolysaccharidosis type VI4 tests
  • Mucopolysaccharidosis type VII5 tests
  • Mucopolysaccharidosis, MPS-I-H/S6 tests
  • Mucopolysaccharidosis, MPS-I-S6 tests
  • Mucopolysaccharidosis, MPS-II7 tests
  • Mucopolysaccharidosis, MPS-III-A5 tests
  • Mucopolysaccharidosis, MPS-III-B4 tests
  • Mucopolysaccharidosis, MPS-III-C4 tests
  • Mucopolysaccharidosis, MPS-III-D4 tests
  • Mucopolysaccharidosis, MPS-IV-A6 tests
  • Mucopolysaccharidosis, MPS-IV-B5 tests
  • Mucopolysaccharidosis, type vi, intermediate1 test
  • Mucopolysaccharidosis, type vi, mild1 test
  • Mucopolysaccharidosis, type vi, severe1 test
  • Mucopolysacchariduria1 test
  • Mucosal telangiectasiae19 tests
  • Muenke syndrome7 tests
  • Muir-Torré syndrome15 tests
  • Mulibrey nanism syndrome1 test
  • Muller Barth Menger syndrome1 test
  • Mullerian aplasia and hyperandrogenism1 test
  • Multicentric osteolysis nephropathy2 tests
  • Multicentric osteolysis, nodulosis and arthropathy2 tests
  • Multicystic kidney dysplasia20 tests
  • Multicystic renal dysplasia, bilateral1 test
  • Multinodular goiter5 tests
  • Multiple congenital anomalies55 tests
  • Multiple congenital anomalies-hypotonia-seizures syndrome1 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
  • Multiple congenital anomalies-hypotonia-seizures syndrome 21 test
  • Multiple congenital exostosis5 tests
  • Multiple Cutaneous and Mucosal Venous Malformations1 test
  • Multiple cutaneous leiomyomas6 tests
  • Multiple digital exostoses2 tests
  • Multiple enchondromatosis2 tests
  • Multiple endocrine neoplasia6 tests
  • Multiple endocrine neoplasia IIA3 tests
  • Multiple endocrine neoplasia, type 110 tests
  • Multiple endocrine neoplasia, type 26 tests
  • Multiple endocrine neoplasia, type 2a14 tests
  • Multiple endocrine neoplasia, type 2b14 tests
  • Multiple endocrine neoplasia, type 42 tests
  • Multiple epiphyseal dysplasia 16 tests
  • Multiple epiphyseal dysplasia 24 tests
  • Multiple epiphyseal dysplasia 34 tests
  • Multiple epiphyseal dysplasia 43 tests
  • Multiple epiphyseal dysplasia 53 tests
  • Multiple epiphyseal dysplasia 65 tests
  • Multiple Epiphyseal Dysplasia, Dominant3 tests
  • Multiple exostoses1 test
  • Multiple exostoses type 24 tests
  • Multiple fibroadenomas of the breast1 test
  • Multiple fibrofolliculomas12 tests
  • Multiple gastric polyps9 tests
  • Multiple gastrointestinal atresias1 test
  • Multiple joint contractures2 tests
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects3 tests
  • Multiple lentigines4 tests
  • Multiple lipomas15 tests
  • Multiple mitochondrial DNA deletions3 tests
  • Multiple mitochondrial dysfunctions syndrome1 test
  • Multiple mitochondrial dysfunctions syndrome 12 tests
  • Multiple mitochondrial dysfunctions syndrome 22 tests
  • Multiple myeloma7 tests
  • Multiple palmar creases1 test
  • Multiple plantar creases1 test
  • Multiple prenatal fractures2 tests
  • Multiple pterygium syndrome Escobar type1 test
  • Multiple renal cysts4 tests
  • Multiple sclerosis modifier of disease progression1 test
  • Multiple sclerosis, susceptibility to, 52 tests
  • Multiple self healing squamous epithelioma2 tests
  • Multiple skeletal anomalies1 test
  • Multiple small medullary renal cysts1 test
  • Multiple sulfatase deficiency4 tests
  • Multiple synostoses syndrome 22 tests
  • Multiple synostoses syndrome 31 test
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Muscle AMP deaminase deficiency2 tests
  • Muscle cramps8 tests
  • Muscle eye brain disease8 tests
  • Muscle fiber atrophy1 test
  • Muscle fiber inclusion bodies1 test
  • Muscle fiber necrosis3 tests
  • Muscle hypertrophy2 tests
  • Muscle stiffness3 tests
  • Muscle weakness56 tests
  • Muscular dystrophy9 tests
  • Muscular dystrophy, congenital, due to integrin alpha-7 deficiency3 tests
  • Muscular dystrophy, congenital, megaconial type1 test
  • Muscular dystrophy, limb-girdle, type 2r10 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 132 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 82 tests
  • Muscular edema1 test
  • Muscular hypotonia140 tests
  • Muscular hypotonia of the trunk17 tests
  • Mutilating keratoderma2 tests
  • Mutism5 tests
  • Myalgia19 tests
  • Myasthenia, limb-girdle, familial2 tests
  • Myasthenic syndrome, congenital, 151 test
  • Myasthenic syndrome, congenital, 82 tests
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency8 tests
  • Myasthenic syndrome, slow-channel congenital7 tests
  • Mycobacterial and viral infections, susceptibility to, autosomal recessive1 test
  • Mycobacterium tuberculosis, susceptibility to12 tests
  • Myd88 deficiency2 tests
  • Myelodysplasia22 tests
  • Myelodysplastic syndrome11 tests
  • Myelofibrosis8 tests
  • Myelomeningocele2 tests
  • Myelopathy1 test
  • Myeloperoxidase deficiency2 tests
  • Myeloproliferative disorder4 tests
  • MYH-associated polyposis15 tests
  • Myhre syndrome8 tests
  • Myocardial fibrosis1 test
  • Myocardial infarction3 tests
  • Myocardial infarction 112 tests
  • Myocardial necrosis1 test
  • Myoclonic dystonia4 tests
  • Myoclonic encephalopathy4 tests
  • Myoclonic epilepsy myopathy sensory ataxia3 tests
  • Myoclonic epilepsy, familial infantile6 tests
  • Myoclonic spasms1 test
  • Myoclonus20 tests
  • Myoclonus, familial cortical1 test
  • Myofibrillar myopathy1 test
  • Myofibrillar myopathy 111 tests
  • Myofibrillar myopathy, BAG3-related4 tests
  • Myofibrillar myopathy, filamin C-related3 tests
  • Myofibrillar myopathy, ZASP-related9 tests
  • Myoglobinuria1 test
  • Myoglobinuria, acute recurrent, autosomal recessive2 tests
  • Myoglobinuria, recurrent1 test
  • Myokymia5 tests
  • Myopathic facies5 tests
  • Myopathy31 tests
  • Myopathy with extrapyramidal signs1 test
  • Myopathy with lactic acidosis, hereditary3 tests
  • Myopathy with postural muscle atrophy, X-linked6 tests
  • Myopathy with tubular aggregates1 test
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset2 tests
  • Myopathy, centronuclear, 15 tests
  • Myopathy, centronuclear, 31 test
  • Myopathy, congenital, compton-north1 test
  • Myopathy, congenital, with excess of muscle spindles5 tests
  • Myopathy, distal, 17 tests
  • Myopathy, distal, 22 tests
  • Myopathy, distal, 43 tests
  • Myopathy, distal, with anterior tibial onset5 tests
  • Myopathy, early-onset, with fatal cardiomyopathy9 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 13 tests
  • Myopathy, lactic acidosis, and sideroblastic anemia 23 tests
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay2 tests
  • Myopathy, reducing body, X-linked, childhood-onset4 tests
  • Myopathy, reducing body, X-linked, early-onset, severe4 tests
  • Myopathy, tubular aggregate, 21 test
  • Myopia36 tests
  • Myopia 21, autosomal dominant1 test
  • Myopia 23, autosomal recessive1 test
  • Myopia 61 test
  • Myopia, high, with cataract and vitreoretinal degeneration1 test
  • Myosclerosis, autosomal recessive3 tests
  • Myosin storage myopathy7 tests
  • Myositis1 test
  • Myotilinopathy6 tests
  • Myotonia5 tests
  • Myotonia congenita1 test
  • Myotonic dystrophy type 21 test
  • Myxoid liposarcoma1 test
  • Myxoid subcutaneous tumors4 tests
  • N-terminal acetyltransferase deficiency2 tests
  • Naegeli-Franceschetti-Jadassohn syndrome2 tests
  • Nager syndrome1 test
  • Nail disorder, nonsyndromic congenital, 101 test
  • Nail disorder, nonsyndromic congenital, 82 tests
  • Nail dysplasia7 tests
  • Nail dystrophy9 tests
  • Nail pits1 test
  • Nail-patella syndrome2 tests
  • Nakajo syndrome1 test
  • Nance-Horan syndrome3 tests
  • Nanophthalmos 22 tests
  • Narcolepsy 12 tests
  • Narcolepsy 71 test
  • Narrow chest16 tests
  • Narrow face13 tests
  • Narrow foot4 tests
  • Narrow forehead25 tests
  • Narrow greater sacrosciatic notches2 tests
  • Narrow iliac wings1 test
  • Narrow mouth24 tests
  • Narrow naris1 test
  • Narrow nasal bridge3 tests
  • Narrow nasal ridge3 tests
  • Narrow nose1 test
  • Narrow palate4 tests
  • Narrow palm4 tests
  • Narrow pelvis bone1 test
  • Narrow sacroiliac notch4 tests
  • Narrow vertebral interpedicular distance4 tests
  • Nasal polyposis9 tests
  • Nasal speech5 tests
  • Nasolacrimal duct obstruction1 test
  • Nasopharyngeal carcinoma22 tests
  • Natal tooth2 tests
  • Native American myopathy1 test
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect1 test
  • Nausea2 tests
  • Nausea and vomiting34 tests
  • Navajo neurohepatopathy4 tests
  • Naxos disease5 tests
  • Neck muscle weakness1 test
  • Nemaline bodies1 test
  • Nemaline myopathy3 tests
  • Nemaline myopathy 14 tests
  • Nemaline myopathy 23 tests
  • Nemaline myopathy 34 tests
  • Nemaline myopathy 45 tests
  • Nemaline myopathy 53 tests
  • Nemaline myopathy 62 tests
  • Nemaline myopathy 72 tests
  • Neonatal adrenoleucodystrophy8 tests
  • Neonatal breathing dysregulation2 tests
  • Neonatal death2 tests
  • Neonatal diabetes mellitus1 test
  • Neonatal epiphyseal stippling4 tests
  • Neonatal hypoglycemia4 tests
  • Neonatal hypotonia17 tests
  • Neonatal insulin-dependent diabetes mellitus1 test
  • Neonatal intrahepatic cholestasis caused by citrin deficiency4 tests
  • Neonatal respiratory distress7 tests
  • Neonatal sepsis1 test
  • Neonatal severe hyperparathyroidism4 tests
  • Neonatal short-limb short stature1 test
  • Neonatal wrinkled skin of hands and feet1 test
  • Neoplasia of the nasopharynx14 tests
  • Neoplasm19 tests
  • Neoplasm of brain7 tests
  • Neoplasm of fallopian tube6 tests
  • Neoplasm of ovary27 tests
  • Neoplasm of stomach32 tests
  • Neoplasm of the adrenal cortex14 tests
  • Neoplasm of the adrenal gland4 tests
  • Neoplasm of the anterior pituitary1 test
  • Neoplasm of the breast30 tests
  • Neoplasm of the colon22 tests
  • Neoplasm of the endocrine system2 tests
  • Neoplasm of the gastrointestinal tract5 tests
  • Neoplasm of the heart9 tests
  • Neoplasm of the liver12 tests
  • Neoplasm of the lung18 tests
  • Neoplasm of the middle ear4 tests
  • Neoplasm of the nervous system23 tests
  • Neoplasm of the oral cavity3 tests
  • Neoplasm of the pancreas26 tests
  • Neoplasm of the parathyroid gland2 tests
  • Neoplasm of the rectum17 tests
  • Neoplasm of the skeletal system16 tests
  • Neoplasm of the skin20 tests
  • Neoplasm of the small intestine16 tests
  • Neoplasm of the stomach32 tests
  • Neoplasm of the thyroid gland18 tests
  • Neoplasm of uterus7 tests
  • Nephritis2 tests
  • Nephroblastoma16 tests
  • Nephroblastoma18 tests
  • Nephroblastomatosis2 tests
  • Nephrocalcinosis8 tests
  • Nephrogenic diabetes insipidus, autosomal2 tests
  • Nephrogenic diabetes insipidus, X-linked2 tests
  • Nephrogenic rest2 tests
  • Nephrogenic syndrome of inappropriate antidiuresis2 tests
  • Nephrolithiasis11 tests
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 11 test
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 21 test
  • Nephronophthisis8 tests
  • Nephronophthisis 110 tests
  • Nephronophthisis 118 tests
  • Nephronophthisis 124 tests
  • Nephronophthisis 131 test
  • Nephronophthisis 47 tests
  • Nephronophthisis 74 tests
  • Nephronophthisis 94 tests
  • Nephronophthisis-like nephropathy 14 tests
  • Nephropathic cystinosis3 tests
  • Nephropathy15 tests
  • Nephropathy with pretibial epidermolysis bullosa and deafness2 tests
  • Nephrosclerosis1 test
  • Nephrotic syndrome20 tests
  • Nephrotic syndrome, idiopathic, steroid-resistant2 tests
  • Nephrotic syndrome, type 31 test
  • Nephrotic syndrome, type 5, with or without