9001 to 10000 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
• Autosomal Recessive Bestrophinopathy
• Acrofacial Dysostosis Type Catania
• Hypomandibular Faciocranial Dysostosis
• Acro-Fronto-Facio-Nasal Dysostosis
• 45,X/46,XY Mixed Gonadal Dysgenesis
• Dyschondrosteosis-Nephritis Syndrome
• Familial Progressive Vestibulocochlear Dysfunction
• Dincsoy-Salih-Patel Syndrome
• Pentalogy of Cantrell
• Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
• Penoscrotal Transposition
• Cardio-Facio-Cutaneous Syndrome Type 4
• Cardio-Facio-Cutaneous Syndrome Type 3
• Cardio-Facio-Cutaneous Syndrome Type 2
• Cardio-Facio-Cutaneous Syndrome
• Ostravik-Lindemann-Solberg Syndrome
• Cardiomyopathy - Cataract - Hip Spine Disease Syndrome
• Bifid Nose
• Arrhinia
• Infantile Choroidocerebral Calcification Syndrome
• Camptodactyly Syndrome Type Guadalajara 2
• Cataract - Microcornea Syndrome
• Hereditary Mixed Polyposis Syndrome
• Epithelioid Hemangioendothelioma
• Mesoaxial Synostotic Syndactyly with Phalangeal Reduction
• Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
• Congenital Pseudoarthrosis of the Limbs
• Congenital Epulis
• Blue Diaper Syndrome
• Cataract - Ataxia - Deafness
• Autosomal Recessive Spinocerebellar Ataxia 8
• Congenital Cataract-Ichthyosis Syndrome
• Congenital Tracheal Stenosis
• Congenital Subglottic Stenosis
• Nasal Encephalocele
• Non-Involuting Congenital Hemangioma
• Desbuquois Dysplasia
• Anotia
• Epignathus
• Cerebellar Ataxia with Peripheral Neuropathy Type 2
• Congenital Cerebellar Hypoplasia
• Nasal Glial Heterotopia
• Familial Calcium Pyrophosphate Deposition
• Monilethrix
• Nasolacrimal Duct Cyst
• Calderon Gonzalez Cantu Syndrome
• Sorsby Syndrome
• Cerebro-Oculo-Facio-Skeletal Syndrome
• CAMFAK Syndrome
• Commissural Facial Cleft
• Hereditary Corneal Dystrophy
• Biemond Syndrome Type 2
• Cysts and Fistulae of the Face and Oral Cavity
• Skeletal Dysplasia - Intellectual Disability Syndrome
• Rapidly Involuting Congenital Hemangioma
• Greenberg Dysplasia
• Coats Disease
• Ring Chromosome 19
• Ring Chromosome 14 Syndrome
• Ring Chromosome 7
• Laryngeal Abductor Paralysis
• Hypoplastic Right Heart Syndrome
• Colonic Atresia
• Isolated optic nerve hypoplasia
• Bangstad Syndrome
• Bamforth Syndrome
• Glandular Cheilitis
• Lip Disease
• Aurocephalosyndactyly
• Nodular Localized Cutaneous Amyloidosis
• Progressive Pseudorheumatoid Dysplasia
• X-Linked Mandibulofacial Dysostosis
• Histiocytoid Cardiomyopathy
• Cerebellar Ataxia-Hypogonadism Syndrome
• Motor Neuron Disease Type Madras
• Benign Paroxysmal Tonic Upgaze of Childhood with Ataxia
• Ataxia - Tapetoretinal Degeneration Syndrome
• Lemierre Syndrome
• Stromal Keratitis
• Cogan Syndrome
• Preaxial Brachydactyly - Hallux Varus Syndrome
• Neurotrophic Keratopathy
• Vulvar Intraepithelial Neoplasia
• Neonatal Hypoxic and Ischemic Brain Injury
• Branchio-Oculo-Facial Syndrome
• Capillary Malformation - Arteriovenous Malformation Syndrome
• Peripheral Arteriovenous Malformation
• Pellucid Marginal Degeneration
• Brachyolmia
• Congenital Scoliosis due to Bony Malformation
• Cardiac Anomalies-Heterotaxy Syndrome
• BOD Syndrome
• Nephrogenic Systemic Fibrosis
• Bencze Syndrome
• Banki Syndrome
• Congenital Intrauterine Infection-Like Syndrome
• Blepharoptosis - Myopia - Ectopia Lentis
• Boomerang Dysplasia
• Pashayan Syndrome
• Alopecia - Hypogonadism - Extrapyramidal Syndrome
• Autosomal Recessive Amelia
• Amelia
• Drug Rash with Eosinophilia and Systemic Symptoms
• Congenital Generalized Hypertrichosis Type Ambras
• Amaurosis-Hypertrichosis Syndrome
• Carney Triad
• Acromegaly - Cutis verticis gyrata - Corneal Leukoma Syndrome
• Acheiria
• Charcot-Marie-Tooth Disease Type 2
• Testicular Regression Syndrome
• Adrenomyodystrophy
• Internal Carotid Agenesis
• Aicardi-Goutières Syndrome
• Aicardi-Goutières Syndrome Type 5
• Aicardi-Goutières Syndrome Type 3
• X-Linked Fetal Akinesia Syndrome 
• Anonychia-Microcephaly Syndrome
• Microphthalmia with Limb Anomalies
• Aplasia Cutis Congenita - High Myopia - Cone-Rod Dysfunktion
• Recessive Aplasia Cutis Congenita of Limbs
• Non-Syndromic Aplasia Cutis Congenita
• Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
• Balint Syndrome
• Aprosencephaly and Cerebellar Dysgenesis
• Immune Hydrops Fetalis
• Metaphyseal Anadysplasia
• Cardiac Diverticulum
• Vein of Galen Aneurysm
• Hereditary Neurocutaneous Angioma
• Walker-Dyson Syndrome
• Hay-Wells Syndrome
• Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
• Familial Visceral Myopathy
• X-Linked Mental Retardation Type Lubs
• Trisomy 8q
• Trisomy 4p
• Distal Trisomy 14q
• Mosaic Trisomy 14
• Lytic Bone Lesion
• Acalvaria
• Acrodysostosis
• Lymphopenic Agammaglobulinemia - Short-Limbed Dwarfism Syndrome
• 3-Hydroxyisobutyric Aciduria
• Insulin-Resistance Syndrome Type A
• Achalasia - Microcephaly Syndrome
• Ring Chromosome 21
• ABCD Syndrome
• Mosaic Trisomy 15
• Mosaic Trisomy 1
• Polyploidy
• Normokalemic Periodic Paralysis
• Familial Male-Limited Precocious Puberty
• Tetrasomy 9p
• Familial Multiple Nevi Flammei
• Ring Chromosome 10
• Ring Chromosome 20 Syndrome
• Ring Chromosome 4
• Ring Chromosome 1
• Chromosome 6 Ring Syndrome
• Chromosome 8-Derived Supernumerary Ring or Marker
• Chronic Berylliosis
• Nasopharyngeal Carcinoma
• 48,XXYY Syndrome
• 46,XY Complete Gonadal Dysgenesis
• 46,XY Sex Reversal Type 5
• 46,XY Sex Reversal Type 3
• 46,XY Sex Reversal Type 2
• 46,XY Sex Reversal Type 7
• 46,XY Sex Reversal Type 4
• Spondylocostal Dysostosis Type 3
• Spondylocostal Dysostosis Type 2
• Cleft of Hard Palate
• Classic Migraine
• Radiation-Induced Meningioma
• Duane Retraction Syndrome Type 2
• Duane Retraction Syndrome
• Rare Hyperparathyroidism
• Commissural Lip Fistula
• Short Stature due to Endocrine Disorder
• PIBIDS Syndrome
• Toxic Multinodular Goiter
• Lujan-Fryns Syndrome
• Combined Hyperlipidemia
• Cholesterol-Ester Transfer Protein Deficiency
• Ballard Syndrome
• Acquired Hemolytic Anemia
• Drug-Induced Autoimmune Hemolytic Anemia
• Atrial Standstill
• Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability
• Glial Tumor
• Anaplastic Oligodendroglioma
• Toxic Secondary Sideroblastic Anemia
• Secondary Sideroblastic Anemia due to Disease
• Cherubism
• Idiopathic Acute Eosinophilic Pneumonia
• Acquired Generalized Lipodystrophy
• Tumor of Endocrine Glands
• Extragonadal Germinoma
• Congenital Bilateral Absence of Vas Deferens
• 46,XX Complete Gonadal Dysgenesis
• Ovarian Dysgenesis, Hypergonadotropic, X-Linked
• Familial Abdominal Aortic Aneurysm
• Joubert Syndrome Type 8
• Inherited Ichthyosis
• Ring Chromosome 22
• Malignant Prostate Neoplasm
• Familial Medullary Thyroid Carcinoma
• Monosomy 21q
• Central Areolar Choroidal Dystrophy
• Congenital Stationary Night Blindness
• Congenital Stationary Night Blindness Type 1C
• Autosomal Dominant Congenital Stationary Night Blindness Type 1
• Autosomal Dominant Congenital Stationary Night Blindness Type 3
• Congenital Stationary Night Blindness Type 2A
• Congenital Stationary Night Blindness Type 1B
• Autosomal Dominant Congenital Stationary Night Blindness Type 2
• Bilateral Massive Adrenal Hemorrhage
• Autosomal Dominant Progressive Nephropathy with Hypertension
• Young-Onset Parkinson Disease
• Campomelic Dysplasia
• Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy
• Autoimmune Pancreatitis
• Caudal Regression Sequence
• Atrial Tachyarrhythmia with Short PR Interval
• Seckel Syndrome Type 5
• Woods-Leversha-Rogers Syndrome
• Reticular Dysgenesis
• Laryngocele
• Autosomal Dominant Hyper-IgE Syndrome
• Transient Familial Neonatal Hyperbilirubinemia
• Neutrophil Immunodeficiency Syndrome
• Malignant Kidney Neoplasm except Renal Pelvis
• Juvenile Polyposis Syndrome
• Genetic Anomaly of Leukocytes
• CANOMAD Syndrome
• Arnold-Chiari Malformation Type 2
• Atrial Septal Defect Type Ostium Primum
• Chronic Chagas Disease with Heart Involvement
• Acute Chagas Disease without Heart Involvement
• Acute Chagas Disease with Heart Involvement
• West Syndrome
• Early Infantile Epileptic Encephalopathy with Suppression-Burst
• Mast Cell Sarcoma
• Embryonal Rhabdomyosarcoma Type 1
• Pyridoxine-Dependent Epilepsy
• Primary Pigmented Nodular Adrenocortical Disease
• Familial Isolated Hypoparathyroidism
• Pulmonary Capillary Hemangiomatosis
• Corticosteroid-Binding-Globulin - Deficiency
• Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease
• Ledderhose Disease
• Atypical Glycine Encephalopathy
• ACTH-Independent Cushing Syndrome
• Congenital Isolated ACTH Deficiency
• Adenohypophysitis
• Congenital Atransferrinemia
• Diffuse Alveolar Hemorrhage
• Tetragametic Chimerism
• Congenital Bronchobiliary Fistula
• 15q13.3 Microdeletion Syndrome
• Calcified Aponeurotic Fibroma
• Familial Angiolipomatosis
• Familial Multiple Lipomatosis
• Adiposis Dolorosa
• Hereditary Hypercarotenemia and Vitamin A Deficiency
• Harlequin Syndrome
• Congenital Microgastria
• Familial Alzheimer-Like Prion Disease
• Legionellosis
• Maternally-Inherited Diabetes and Deafness
• Congenital Mesoblastic Nephroma
• Acute Endophthalmitis
• Autosomal Dominant Primary Hypomagnesemia with Hypocalciuria
• Extramammary Paget Disease
• Congenital Herpes Virus Infection
• Paroxysmal Dyskinesia
• Stickler Syndrome Type 4
• Non-Syndromic Ocular Stickler Syndrome Type 1 
• Echinococcus Multilocularis Infection of Liver
• Interatrial Communication
• Congenital Tricuspid Stenosis
• Basal Encephalocele
• Lethal Congenital Neutropenia with Eosinophilia
• Brucella Suis
• Larynx Atresia
• Congenital Laryngeal Cyst
• Apple Peel Small Intestinal Atresia
• Atresia of Small Intestine
• Blindness - Scoliosis - Arachnodactyly Syndrome
• Invasive Non-Typhoidal Salmonellosis
• Paratyphoid Fever
• Typhoid Fever
• Central Polydactyly of Toes
• Central Polydactyly of Fingers
• Autosomal Recessive Primary Microcephaly Type 7
• Microcephaly with Simplified Gyral Pattern
• Spondyloepimetaphyseal Dysplasia Type Aggrecan
• Bladder Exstrophy
• Acquired Amyloid Myopathy
• Idiopathic Bilateral Vestibulopathy
• Hemolytic Anemia due to Deficient Glutathione Synthesis
• Maple Syrup Urine Disease Mild Variant
• Periventricular Leukomalacia
• Xanthinuria Type 2
• White Sponge Nevus
• Male Infertility due to Globozoospermia
• Familial Primary Pulmonary Hypoplasia
• Bronchiolitis Obliterans with Obstructive Pulmonary Disease
• Sitosterolemia
• Congenital Hypothyroidism without Goiter
• Congenital Hypothyroidism with Diffuse Goiter
• Endemic Cretinism Mixed Type
• Endemic Cretinism Myxedematous Type
• Endemic Cretinism Neurological Type
• Leydig Cell Hypoplasia
• Autosomal Dominant Keratitis
• Alternating Hemiplegia of Childhood
• Retinitis Pigmentosa 61
• Retinitis pigmentosa 48
• Retinitis pigmentosa 43
• Retinitis pigmentosa 39
• Retinitis Pigmentosa 20
• Retinitis pigmentosa 44
• Retinitis Pigmentosa 45
• Retinitis pigmentosa 47
• Retinitis pigmentosa 49
• Retinitis Pigmentosa 58
• Retinitis Pigmentosa 55
• Retinitis Pigmentosa 51
• Retinitis Pigmentosa 54
• Retinitis Pigmentosa 50
• Retinitis pigmentosa 36
• Retinitis Pigmentosa 33
• Retinitis Pigmentosa 32
• Retinitis Pigmentosa 26
• Retinitis Pigmentosa 30
• Retinitis pigmentosa 28
• Leber Congenital Amaurosis Type 3
• Retinitis Pigmentosa 25
• Retinitis Pigmentosa 22
• Retinitis Pigmentosa 19
• Retinitis pigmentosa 18
• Retinitis pigmentosa 14
• Retinitis pigmentosa 12
• Retinitis Pigmentosa 13
• Y-Linked Retinitis pigmentosa
• Retinitis Pigmentosa 6
• Retinitis Pigmentosa 2
• Retinitis Pigmentosa 15
• Pericentral Retinitis Pigmentosa
• Late-Adult Onset Retinitis Pigmentosa
• Dominant Pericentral Pigmentary Retinopathy
• Retinitis pigmentosa 10
• Retinitis Pigmentosa 1
• Transient Neonatal Hypothyroidism
• Long QT Syndrome 12
• Jervell-Lange-Nielsen Syndrome Type 2
• Long QT Syndrome 9
• Long QT Syndrome 8
• Pelizaeus-Merzbacher-like Brain Sclerosis
• Usher Syndrome Type 1H
• Usher Syndrome Type 2D
• Dowling-Degos Disease
• Beta-Thalassemia Associated with Another Hemoglobin Anomaly
• Åland Islands Eye Disease
• Acute Lung Injury
• Epidermolysis Bullosa Simplex
• Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect
• Congenital Adrenal Hyperplasia
• Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency
• Classic Congenital Adrenal Hyperplasia
• Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
• Congenital Lipoid Adrenal Hyperplasia
• Osteogenesis Imperfecta Typ 4
• Osteogenesis Imperfecta Type 3
• Myopic Macular Degeneration
• Focal Myositis
• Folliculotropic Mycosis Fungoides
• Localized Pagetoid Reticulosis
• Angioimmunoblastic T-Cell Lymphoma
• Primary Cutaneous Marginal Zone B-Cell Lymphoma
• Primary Cutaneous Follicle Center Lymphoma
• Inflammatory Myofibroblastic Tumor
• Aromatase excess syndrome
• Auriculocondylar Syndrome
• Autosomal Recessive Osteopetrosis Type 7
• Bipartite Talus
• Hereditary Proximal Myopathy with Early Respiratory Failure
• Wound Botulism
• Autosomal Dominant Mental Retardation Type 11
• Autosomal Dominant Mental Retardation Type 10
• Autosomal Dominant Mental Retardation Type 9
• Autosomal Dominant Neurodevelopmental Disorder - Hyperkinetic Movements - Seizures
• Autosomal Dominant Non-Syndromic Mental Retardation
• Autosomal Dominant Mental Retardation Type 7
• Autosomal Dominant Mental Retardation Type 6
• Autosomal Dominant Mental Retardation Type 4
• Autosomal Dominant Mental Retardation Type 3
• Intestinal Botulism
• Nivelon-Nivelon-Mabille Syndrome
• Cerebrotendinous Xanthomatosis
• Tracheal Agenesis
• Familial Porencephaly
• Primary Cutaneous B-Cell Lymphoma
• Cerebro-Oculo-Facio-Skeletal Syndrome Type 2
• Familial Juvenile Hypertrophy of the Breast
• AApoAIV Amyloidosis
• Non-Neuropathic Heredofamilial Amyloidosis
• Other Inherited Spinal Muscular Atrophy
• Fanconi Anemia Complementation Group L
• Fanconi Anemia Complementation Group G
• Fanconi Anemia Complementation Group N
• Fanconi Anemia Complementation Group J
• Fanconi Anemia Complementation Group I
• Fanconi Anemia Complementation Group F
• Fanconi Anemia Complementation Group E
• Fanconi Anemia Complementation Group B
• Fanconi Anemia Complementation Group A
• Fanconi Anemia Complementation Group D2
• Fanconi Anemia Complementation Group C
• Nonsyndromic Isolated Dilated Cardiomyopathy
• Familial Isolated Dilated Cardiomyopathy
• Uterine Cervical Aplasia and Agenesis
• Agenesis or Aplasia of Uterine Body
• X-Linked Recessive Ocular Albinism
• Alzheimer Disease Type 8
• Early-Onset Autosomal Dominant Alzheimer Disease
• Bicornuate Uterus
• Septate Uterus
• Hand-Foot-Genital Syndrome
• Bicervical Bicornuate Uterus and Blind Hemivagina
• Pseudounicornuate Uterus
• Leptin Receptor Deficiency
• Phyllode Tumor
• Short Rib-Polydactyly Syndrome
• Benign Breast Tumor
• Muir-Torre Syndrome
• Congenital Laryngeal Web
• Malignant Tumor of Fallopian Tubes
• Benign Tumor of Fallopian Tubes
• Congenital Laryngomalacia
• Mixed Germ Cell Tumor
• Congenital Pulmonary Lymphangiectasia
• Congenital Macroglossia
• Malignant Vaginal Neoplasm
• Acral Peeling Skin Syndrome
• Polyembryoma
• Embryonal Carcinoma
• Polymastia
• Foveal Hypoplasia Type 1
• Isolated Congenital Breast Hypoplasia or Aplasia
• Disorder of Fructose Metabolism
• Pseudo-Zellweger Syndrome
• Disorder of Sex Development - Intellectual Disability Syndrome
• Familial Spontaneous Pneumothorax
• Proteus Syndrome
• Autosomal Recessive Osteopetrosis Type 3
• Paget Disease of the Skull
• Micromelic Bone Dysplasia with Cloverleaf Skull
• Congenital Exomphalos
• Bilateral Multicystic Dysplastic Kidney
• Adult-Onset Cervical Dystonia Type DYT23
• Congenital Enterovirus Infection
• Laryngo-Tracheo-Esophageal Cleft
• Congenital Fiber-Type Disproportion Myopathy
• Galactosialidosis
• Congenital Communicating Hydrocephalus
• Congenital Diaphragmatic Hernia Type 3
• Anterior Diaphragmatic Hernia
• Congenital Diaphragmatic Hernia Type 2
• African Iron Overload
• Neonatal Severe Primary Hyperparathyroidism
• Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
• 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
• Adenosine Monophosphate Deaminase Deficiency
• Biotinidase Deficiency
• D-Glyceric Aciduria
• Lichen Myxoedematosus
• Disorders of Pyruvate Metabolism and Gluconeogenesis
• Molybdenum Cofactor Deficiency Type C
• Brosnan Syndrome
• 46,XX Ovotesticular Disorder of Sex Development
• Neuronal Ceroid Lipofuscinosis Type 5
• Neurogenic Arthrogryposis Multiplex Congenita
• Gillespie Syndrome
• Congenital Non-Progressive Ataxia
• Erdheim-Chester Disease
• 46,XY Gonadal Dysgenesis - Motor and Sensory Neuropathy Syndrome
• Blackfan-Diamond Anemia Type 10
• Diamond-Blackfan Anemia Type 9
• Diamond-Blackfan Anemia Type 4
• Diamond-Blackfan Anemia 2
• Arthrogryposis Syndrome
• Arthrogryposis due to Muscular Dystrophy
• Seborrhea-Like Dermatitis with Psoriasiform Elements
• Congenital Enteropathy due to Enteropeptidase Deficiency
• Aromatase Deficiency
• Hereditary Cryohydrocytosis with Reduced Stomatin
• Familial Candidiasis Type 6
• Immunodeficiency Type 51
• Monocyte Chemotactic Disorder
• Lymphokine Deficiency
• Familial Candidiasis Type 1
• Candidiasis of Skin and Nails
• Hereditary North American Indian Childhood Cirrhosis
• Pervasive Developmental Disorder
• Asperger Syndrome
• Overactive Disorder Associated with Mental Retardation and Stereotyped Movements
• Atypical Autism
• Familial Scaphocephaly Syndrome Type McGillivray
• Autosomal Dominant Coarctation of Aorta
• Acro-Pectoral Syndrome
• Ring Chromosome 18
• Congenital Deficiency in Alpha-fetoprotein
• Hereditary Persistence of Alpha-Fetoprotein
• Tetrasomy X
• 2-Methylbutyryl-CoA Dehydrogenase Deficiency
• Autosomal Dominant Aarskog-Scott Syndrome
• Adenine Phosphoribosyl Transferase Deficiency
• Mevalonate Kinase Deficiency
• Combined Oxidative Phosphorylation Defect Type 14
• 2-Hydroxyglutaric Aciduria
• Waters-West Syndrome
• Mucocutaneous Venous Malformations
• Isolated Familial Somatotropinoma
• Gigantism - Acromegaly
• Alkaptonuria
• Neonatal Adrenoleukodystrophy
• Infantile Refsum Disease
• 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
• Familial Scaphocephaly Syndrome
• Tetrasomy 18p
• Immuno-Osseous Dysplasia
• X-Linked Centronuclear Myopathy
• Classic Galactosemia
• Recurrent Infection due to Specific Granule Deficiency
• Neuronal Ceroid Lipofuscinosis
• Neurodegeneration with Brain Iron Accumulation
• T-B+ Severe Combined Immunodeficiency due to CD3zeta
• Immunodeficiency due to a C5 to C9 Complement Component Deficiency
• Erythroderma Desquamativum
• Female with more than three X Chromosomes
• Refsum Disease Type 2
• Large Congenital Melanocytic Nevus
• Isolated Complex I Deficiency
• Osteogenesis Imperfecta Congenita - Microcephaly - Cataracts Syndrome
• Myeloid Neoplasm Associated with PDGFRB Rearrangement
• Myeloid Neoplasm Associated with FGFR1 Rearrangement
• Refractory Anemia with Excess Blasts in Transformation
• Composite Lymphoma
• Childhood Disintegrative Disorder
• Coffin-Siris Syndrome 9
• Coffin-Siris Syndrome 4
• Coffin-Siris Syndrome 3
• Coffin-Siris Syndrome 2
• Hemolytic Anemia due to a Disorder of Glycolytic Enzymes
• Malignant Peritoneal Mesothelioma
• Absent Thumb - Short Stature - Immunodeficiency Syndrome
• Activated PI3K-Delta Syndrome
• Immunoglobulin Heavy Chain Deficiency
• Partial Trisomy 13 in Patau Syndrome
• Distal Trisomy 15q
• Mosaic Trisomy 18
• Trisomy 18p
• Trisomy 10p
• Cernunnos-XLF Deficiency
• Minor Partial Trisomy
• Albinism-Deafness Syndrome
• Low Anorectal Malformation
• Idiopathic Achalasia
• Holoprosencephaly Type 11
• Holoprosencephaly Type 7
• Holoprosencephaly Type 8
• Holoprosencephaly Type 6
• Cyclopia
• Holoprosencephaly Type 4
• Holoprosencephaly Type 3
• Alobar Holoprosencephaly
• High Anorectal Malformation
• Progressive Myoclonic Epilepsy Type 1
• Bruck Syndrome
• Adult-Onset Nemaline Myopathy
• Oculocutaneous Albinism
• Ermine Phenotype
• Ocular Albinism with Late-Onset Sensorineural Deafness
• Autosomal Recessive Congenital Ichthyosis Type 3
• Autosomal Recessive Congenital Ichthyosis Type 4A
• Lamellar Ichthyosis
• Central Precocious Puberty
• Congenital Malformation Syndromes Involving Early Overgrowth
• Chromosome Y Deletion
• Chromosome Y Structural Anomaly
• Meckel Syndrome Type 9
• Meckel Syndrome Type 8
• Meckel Syndrome Type 6
• Meckel Syndrome Type 4
• Meckel Syndrome Type 3
• Meckel Syndrome Type 2
• Cystic Kidney Disease
• Familial Hemophagocytic Lymphohistiocytosis
• Severe Hemophilia A
• Hereditary Deficiency of Clotting Factors
• Mild Hemophilia A
• Autosomal Hemophilia A
• X-Linked Lymphoproliferative Disease 2
• Hypolipoproteinemia
• Congenital Malformation of the Corpus callosum
• Congenital Malformation Syndromes Affecting Facial Appearance
• Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome
• Atelosteogenesis Type 2
• Waardenburg Syndrome Type 2
• Waardenburg Syndrome Type 2C
• Waardenburg Syndrome 2B
• Alpha-1 Antichymotrypsin Deficiency
• Hereditary Motor and Sensory Neuropathy
• Noonan Syndrome 3
• Hypohidrotic Ectodermal Dysplasia
• Neurofibromatosis Type 2
• Alveolar Soft-Tissue Sarcoma
• Color Blindness
• Chronic Granulomatous Disease
• Rolandic Epilepsy - Speech Dyspraxia Syndrome
• Febrile Infection-Related Epilepsy Syndrome
• 17q11 Microdeletion Syndrome
• Familial Temporal Lobe Epilepsy Type 6
• Aqueduct of Sylvius Anomaly
• Non-Immune Hydrops Fetalis
• Phosphorus Metabolic Disorder
• Spondyloepiphyseal Dysplasia Tarda Type Kohn
• Disorder of Sulfur-Bearing Amino Acid Metabolism
• Spondyloepiphyseal Dysplasia Type Byers
• Disorder of Ornithine Metabolism
• SMAX1-Related Spinobulbar Muscular Atrophy
• Combined Immunodeficiency due to CD3-Gamma Deficiency
• Spondyloepiphyseal Dysplasia Type Nishimura
• Isolated Growth Hormone Deficiency Type 4
• X-Linked Intellectual Disability with Panhypopituitarism
• Kowarski Syndrome
• Isolated Growth Hormone Deficiency Type 2
• Congenital Malformation Syndromes Predominantly Involving Limbs
• Craniorhiny
• Hereditary Retinal Dystrophy
• X-Linked Mixed Deafness with Perilymphatic Gusher
• Congenital Anomaly of the Retina
• Bonnemann-Meinecke-Reich Syndrome
• Disorder of Copper Metabolism
• Isolated Agammaglobulinemia
• Autosomal Agammaglobulinemia
• Congenital Malformation Syndromes Predominantly Associated with Short Stature
• Acute Rheumatic Endocarditis
• Hyperinsulinism due to Glucokinase Deficiency
• Familial Hyperthyroidism due to Mutations in TSH Receptor
• Cavitary Myiasis
• Amyotrophic Lateral Sclerosis Type 22
• Amyotrophic Lateral Sclerosis Type 20
• Amyotrophic Lateral Sclerosis Type 18
• Amyotrophic Lateral Sclerosis Type 14
• Amyotrophic Lateral Sclerosis Type 12
• Amyotrophic Lateral Sclerosis Type 11
• Amyotrophic Lateral Sclerosis Type 9
• Amyotrophic Lateral Sclerosis Type 8
• Amyotrophic Lateral Sclerosis Type 7
• Amyotrophic Lateral Sclerosis Type 6
• Amyotrophic Lateral Sclerosis Type 3
• Amyotrophic Lateral Sclerosis with Polyglucosan Bodies
• Hypernychthemeral Syndrome
• Juvenile Absence Epilepsy
• Generalized Epilepsy with Febrile Seizures Plus
• 10q22.3-q23.3 Microdeletion Syndrome
• Biotin-Responsive Basal Ganglia Disease
• X-Linked Mental Retardation - Spastic Paraplegia Syndrome
• Isolated Congenital Auditory Ossicle Malformation
• X-Linked Syndromic Mental Retardation Type Raymond
• Atopic Keratoconjunctivitis
• Palmoplantar Pustulosis
• Myotonic Syndrome
• Nemaline Myopathy Type 8
• Batten-Turner Congenital Myopathy
• Classic Paraneoplastic Limbic Encephalitis
• Alpha-B Crystallinopathy
• Congenital Fibrosis of Extraocular Muscles
• Facioscapulohumeral Dystrophy
• Emery-Dreifuss Muscular Dystrophy
• Metabolic Disease with Epilepsy
• Beta Thalassemia
• Early-Onset Cerebellar Ataxia
• 46,XX Ovarian Dysgenesis-Short Stature Syndrome
• Mosaic Monosomy X
• Recessive X-Linked Ichthyosis without Steroid Sulfatase Deficiency
• GM2-Gangliosidosis
• Photosensitive Epilepsy
• Dirofilariasis
• Congenital Non-Neoplastic Nevus
• Gangliosidosis GM1
• Mucolipidosis Type 2
• Mucolipidosis Type 3
• Dentinogenesis Imperfecta Type 3
• Hereditary Disturbances in Tooth Structure
• Local Lupus Erythematosus
• Cutaneous Lupus Erythematosus
• Bazex Syndrome
• Mitochondrial Myopathy
• Auriculoosteodysplasia
• Von Willebrand Disease Type 2N
• Von Willebrand Disease Type 2B
• Von Willebrand Disease Type 2M
• Von Willebrand Disease Type 2A
• Disorders of Amino-Acid Transport
• Beta-Mannosidosis
• Metaphyseal Chondrodysplasia - Retinitis pigmentosa Syndrome
• Defects in Glycoprotein Degradation
• Multiple Epiphyseal Dysplasia Type Al-Gazali
• Glomerulosclerosis
• Acute Renal Injury
• Streptococcal Pharyngitis
• Keratoconjunctivitis Sicca
• Pulmonary Vascular Disorders
• Focal Seizure
• Candida
• Sclerosing Cholangitis
• Anterior Uveitis
• Chronic Periodontitis
• Radiculitis
• Cognitive Disorder
• Parotitis
• Leukoplakia
• Enteritis
• Neonatal Neutropenia
• Cholecystolithiasis
• Taenia Solium
• Joint Subluxation
• Acute Interstitial Nephritis
• Dyslipidemia
• Dysautonomia
• Generalized Seizure
• Bowing of The Long Bones
• Microdontia
• Immunologic Deficiency Syndromes
• Diverticulosis
• Systemic Lupus Erythematosus with Organ/System Involvement
• Chronic Cholangitis
• Pure Red Cell Aplasia
• Meningococcal Infection
• Gastroenteritis
• Candidiasis
• Pulmonary Lymphangioleiomyomatosis
• Liver Fibrosis
• Skin Atrophy
• Calcinosis Cutis
• Pruritic Rash
• Decreased Libido
• Varicella-Zoster Virus Infection
• Hernia
• Dysostosis
• Synovitis
• Tonic-Clonic Seizure
• Enthesopathy
• Obsessive Thoughts
• Coronary Heart Disease
• Dolichocephaly
• Angiomatosis
• Postoperative Hemorrhage
• Leg Edema
• Bilateral Leg Weakness
• Osteoporosis
• Claustrophobia
• Aphasia
• Anorexia
• Ptosis
• Cushing Syndrome
• Rectal Bleeding
• Nail Abnormality
• Paresis
• Muscular Fasciculation
• Gangrene
• Hypergammaglobulinemia
• Kidney Failure
• Fever of Unknown Origin
• Angiokeratoma
• Difficulty Concentrating
• Hypersomnia
• Abdominal Bloating
• Soft Tissue Swelling
• Brachydactyly
• Macrocephaly
• Arhinencephaly
• Color Vision Deficit (Green or Red Green)
• Favorable Response to Clonazepam
• Male-Pattern Baldness
• Interstitial Pneumonia
• Connective Tissue Dysplasia
• Eschar Formation
• Ischemic Stroke
• Intracranial Aneurysms
• Puberty Delayed
• Small Cell Carcinoma of the Ovary of Hypercalcemic Type
• Paroxysmal or Persistent Atrial Fibrillation
• Laryngomalacia
• Porencephaly
• Multiple Intestinal Atresia
• Iridocorneal Dysgenesis
• Alveolar Capillary Dysplasia
• Dysdiadochokinesis
• Atlanto-Occipital Instability
• Fibrous Dysplasia
• Partial Agenesis of the Corpus Callosum
• Osteochondritis Dissecans of Shoulders, Elbows, and Knees
• Unilateral Hearing Loss
• Fetal Akinesia Sequence
• Breech Presentation
• Dilation of Vein of Galen
• Bilateral Conductive Hearing Loss
• Idiopathic Generalized Epilepsy in Childhood
• Recurrent Shingles
• Small Vessel Cerebrovascular Disease
• Severe Dilated Cardiomyopathy
• Migraine with or without Aura
• Generalized Follicular Keratosis
• Coagulopathy (INR = 2.2-3.5)
• Cleft Lip - Cleft Palate
• Brain Atrophy
• Primary or Secondary Amenorrhea
• 'Intestinal Pseudotuberculosis'
• Shallow Breathing - Tidal Volume Decreased
• Acrocephalosyndactyly
• Central Hypoventilation
• Hemophagocytic Lymphohistiocytosis
• Trigonocephaly
• Sensory Ataxia
• Bicuspid Aortic Valve
• Diffuse Mesangial Sclerosis
• Linear Porokeratosis
• Urethral Prolapse
• Androgenic Alopecia
• Malformed Thoracic Vertebrae
• Right-Sided Diaphragmatic Hernia
• Hypodontia
• Craniofacial Dysplasia
• Primary Hypothyroidism
• Abnormality of the Auricle
• Myosin Storage Myopathy
• Peripheral Artery Occlusive Disease
• Coronary Artery Disease
• Aldolase A Deficiency
• Hypophosphatemic Rickets
• Myoclonic Seizures
• Childhood-Onset Systemic Lupus Erythematosus
• Lymphocytic Vasculitis
• Epileptic Encephalopathy
• Metopic Suture Synostosis
• Narrow Head
• Avascular Necrosis of the Hip
• Persistent Atrial Fibrillation
• Severe Brain Damage
• Cerebellar Hypoplasia and Atrophy
• Meniscal Lesions
• Spondylolysis
• Uvula Abnormal
• Steroid-Resistant Nephrotic Syndrome
• Bulbar Palsy
• Autoimmune Enteropathy
• Arachnoid Cysts
• Narrowness of Intervertebral Disc Space
• Anorectal Anomalies
• Absent Auditory Canals
• Hyperglycinemia
• Hypoplasia or Aplasia of Thymus
• Progressive Loss of Visual Acuity
• Abnormality of the Ear
• Atrioventricular Septal Defect
• Small-Fiber Neuropathy
• Subcortical Nodular Grey Matter Heterotopia
• Superior Semicircular Canal Dehiscence
• Delayed Motor Nerve Conduction Velocity
• Lack of Speech or Poor Speech
• Optic Nerve Hypoplasia
• Mega-Cisterna Magna
• Hip Subluxation
• Generalized Amyoplasia
• Calf Muscle Discomfort
• Macrodactyly
• Neural Tube Defect
• Autosomal Recessive Cytochrome B-Positive CGD Type 2
• Autoimmune Neutropenia
• Hyperphalangism
• Congenital Myasthenic Syndrome
• Adenocarcinoma of the Lung
• Neuronal Migration Defect
• Chronic Vaginal Candidiasis
• Calcinosis Cutis Metastatica
• Complex Cardiac Malformation
• Abnormal Gastrointestinal Motility
• Mild Dysmorphic Features
• Pancreatic Exocrine Deficiency
• Duodenal and-or Jejunal Atresia
• Parotid Gland Adenoma and Adenocarcinoma
• Episodic Jaundice
• Malformations of the Auditory Ossicles
• Michel Aplasia
• Protrusio Acetabuli
• Generalized Brain Atrophy
• Cerebellar Stroke
• Childhood Absence Seizures
• Endolymphatic Sac Tumor
• Anterior Open Bite
• Peripheral Polyneuropathy
• Phalangeal Dislocation
• Selective Tooth Agenesis
• Benign Tumors of the Eye, Heart, and Lungs
• Rare Skin Cancers
• Patella Aplasia - Hypoplasia
• Unilateral Hypoplasia or Absence of Pectoralis Major Muscle
• Planovalgus
• Atopic Disorders (Eczema, Food Allergy, Asthma)
• Dysphonia due to Muscle Weakness
• Ethylmalonic Aciduria
• Vestibular Aqueduct Dilated
• 2,8-Dihydroxyadenine Urinary Stones
• Hereditary Antithrombin Deficiency Type 1
• Brachydactyly Type E1
• Upward Displacement of Ocular Globes
• Severe Acne
• Abnormality of the Middle Ear
• Monosomy for 22q11
• Chronic or End-Stage Renal Failure
• Recurrent Candida Infections
• Growth Failure
• V-Pattern Esotropia
• Prolonged Neonatal Jaundice
• Death at Birth or Shortly after Birth
• Plasmalogen Deficiency
• Diminished Force of Urine Stream
• Papillomas in Perioral, Nasal and Anal Regions
• Dental Fusion
• Meconium Ileus in Neonates (10-15%)
• Amelogenesis Imperfecta Hypocalcified Type
• Late-Onset Spinocerebellar Degeneration
• Renal Lymphangiectasia
• Lateral or Midline Cleft Lip
• Severe Intrauterine Growth Retardation
• Mental Retardation of Variable Severity
• Hypersensitive to Stimuli
• Pes Planus Valgus
• Small Pelvic Inlet
• NADH Cytochrome B5 Reductase Deficiency
• Activity of Mitochondrial Complex II Decreased
• Organic Aciduria
• Focal Dystonia
• Cutis Verticis Gyrata
• Fusion of Tarsal Bones
• Uterine Rupture during Pregnancy
• Hip Joint Replacement Often Necessary
• Trichodiscomas - Tumor of the Hair Disc
• Unusual Fears
• Carnitine Palmitoyltransferase I Deficiency
• Microvesicular Hepatic Steatosis
• Vitamin B12 Deficiency due to Intestinal Malabsorption
• Abnormal Foreskin
• Renovascular Hypertension
• Epiglottis Absent or Abnormal
• Occasional Back Pain
• Intraoral Frenula
• Liver Copper High
• Xanthine Urolithiasis
• Generalized Clonic or Tonic-Clonic Seizures
• Mucocutaneous Herpes Simplex Infection
• Duane Anomaly
• Squamous Cell Carcinoma - Skin or Mucosa
• Skin Peeling or Scaling
• Neonatal or Infant Death
• Recurrent Respiratory Infection
• Migraine with Aura
• Contiguous Gene Syndrome due to Deletion of HBA1 and HBA2
• Upturned Nostrils
• Pneumocystis Carinii Infection
• Atrophic Patchy Alopecia
• Gut Dysmotility
• Self-Absorbed
• Weakness of Orbicularis Oculi Muscles
• Gastrointestinal Dysmotility
• Distal Sensory Loss (all Modalities)
• Red-Blind Color Blindness
• Aplasia or Hypoplasia of Halluces
• Lacrimal Duct Defect
• Mandibular Cyst
• Premature Menopause
• Hyperhidrosis - Hands and Feet
• Inclusion Body Myopathy
• Congenital Bowing of the Long Bones
• Carnitine Deficiency
• Familial Isolated Trichomegaly
• Unilateral Vocal Cord Paralysis
• Hypoxemia
• Avoidant Personality Traits
• Abnormal Movement
• Advanced Bone Age
• Abnormal Eye Movement
• Short Palpebral Fissure
• Gingival Overgrowth