501 to 1000 most common queries

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

• Knuckle Pads
• Malignant Neoplasm of the Urinary Bladder Stage 4B
• Parotid Disease
• Autoimmune Atherosclerosis
• Carotid Artery Disease
• DEAF1-Related Disorders
• Barrett Esophagus with High-Grade Dysplasia
• Bleomycine-Resistant Testicular Cancer
• Susceptibility to Mercaptopurine Toxicity
• Non-Spherocytic Hemolytic Anemia with Abnormality of Red-Cell Membrane
• Idiopathic Generalized Epilepsy Type 4
• Adult Lymphoma
• Carcinoma Showing Thymus-Like Elements
• Facial Diplegia with Paresthesias
• Idiopathic Generalized Epilepsy Type 5
• Autoimmune Disease of the Eyes - Ears - Nose - Throat
• Willems-de Vries-van der Weerd Syndrome
• Susceptibility to Endometriosis 1
• Age-Related Hearing Impairment Type 1
• Autoimmune Disease of the Endocrine System
• Cancer - Alopecia - Pigment Dyscrasia - Onychodystrophy - Keratoderma
• Congenital Muscular Dystrophy-Dystroglycanopathy
• X-Linked Congenital Nystagmus Type 6
• Supernumerary Der(22)t(8;22) Syndrome
• Optic Atrophy - Opthalmoplegia - Ptosis - Deafness - Myopia
• Sensory Neuropathy with Spastic Paraplegia
• Adenosquamous Carcinoma
• Epithelial-Subepithelial Corneal Dystrophy
• Susceptibility to Essential Hypertension 6
• Blastic Plasmacytoid Dendritic Cell Neoplasm
• Epimetaphyseal Dysplasia - Cataract
• Childhood Cerebral Neoplasm
• Keratoconus Type 3
• Cranial or Spinal Nerve Neoplasm
• Acquired Metabolic Disease
• Chronic Demyelinizing Neuropathy with IgM Monoclonal
• Immunodeficiency with Defective T-Cell Response to IL1
• Ehlers-Danlos Syndrome Arthrochalasia Type 2
• Variation in Skin/Hair/Eye Pigmentation Type 2
• Luminal Breast Carcinoma
• Aggressive Periodontitis Type 2
• Susceptibility to Autoimmune Thyroid Disease 4
• Nasal Cavity Disorder
• Susceptibility to Autoimmune Thyroid Disease 1
• Autosomal Recessive Non-Syndromic Sensorineural Deafness Type DFNB
• Fibular Hypoplasia - Scapulo-Pelvic Dysplasia - Absent 5th Fingers
• Maxillary Double Lip
• Lower Extremity-Predominant Spinal Muscular Atrophy Type 2
• Brachydactyly - Tibial Hypoplasia
• Short Stature - Microcephaly - Seizures - Deafness
• Depressed Scar
• Agenesis of the Corpus Callosum - Facial Anomalies - Cerebellar Ataxia
• Hereditary Essential Tremor Type 2
• Hereditary Angioedema with C1Inh Deficiency
• Fibro-Adipose Vascular Anomaly
• Proteus-Like Syndrome - Mental Retardation - Eye Defect
• Autosomal Recessive Split Hand-Split Foot Malformation
• lissencephaly - Polymicrogyria
• White Fibrous Papulosis of the Neck
• Radio-Digito-Facial Dysplasia
• Natural Earring Holes
• Chromosomal Duplication
• Childhood Malignant Parathyroid Neoplasm
• Mitochondrial Complex 1 Deficiency Nuclear Type26
• Brachydactyly - Small Stature - Facial Anomalies
• Glaucoma with Elevated Episcleral Venous Pressure
• New Daily Persistent Headache
• Iris Pigment Epithelium Anomalies
• Neurodevelopmental Disorder with Impaired Speech - Hyperkinetic Movements
• Metastatic Insulinoma
• Autosomal Dominant Distal Axonal Motor Neuropathy - Myofibrillar Myopathy
• X-Linked Monogenic Disease
• Familial Myoclonus Type 2
• Commissural Lip Pits
• Low IgD Levels
• Nerve Root Tumor
• Pseudomonilethrix
• Pyriform Sinus Tumor
• Contact Blepharoconjunctivitis
• Uterine Ligament Cancer
• Incisors, Long Upper Central
• Childhood Malignant Pheochromocytoma
• Ovarian Endometrioid Stromal Sarcoma
• Cervical Endometrial Stromal Sarcoma
• Metastatic Squamous Neck Cancer with Occult Primary
• Posterior Urethral Cancer
• Sodium Channelopathy-Related Small Fiber Neuropathy
• Susceptibility to IgA Nephropathy 2
• Malignant Pleural Solitary Fibrous Tumor
• Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm
• X-Linked Deafness
• Bronchiectasis in Ciliary Dyskinesia
• Renal Agenesis - Meningomyelocele - Absence of Müllerian Structures
• Childhood Malignant Nasopharyngeal Neoplasm
• TRIO-Related Intellectual Disability
• Malignant Mixed Epithelial Stromal Tumor
• SCN1A-Related Seizure Disorders
• Pseudomonas Stutzeri Infection
• Ectoparasitic Infestation
• Hypergonadotropic Ovarian Failure
• Inability to Smell Butyl Mercaptan
• Pancytopenia - Vascular Occlusive Disease
• ATP1A3-Related Neurologic Disorders
• Diarrhea-Positive Hemolytic Uremic Syndrome
• Distal Arthrogryposis - Mental Retardation - Characteristic Facies
• Lymphatic Malformation Type 3
• Familial Erythrocytosis Type 7
• Congenital Heart Disease - Ptosis - Hypodontia - Craniostosis
• Bone Squamous Cell Carcinoma
• Atonic-Astatic Syndrome of Foerster
• Galloway-Mowat Syndrome Type 8
• Hepatitis B Reinfection after Liver Transplantation
• Reductional Transverse Limb Defects
• Age-Related Macular Degeneration Type 9
• Short Stature - Obesity
• Apple Allergy
• Expansile Bone Lesions
• Childhood-Onset Neurodegeneration with Cerebellar Atrophy
• Myokymia with Neonatal Epilepsy
• Post-Streptococcal Neurologic Disorders
• TRPV4-Related Disorders
• GDAP1-Related Hereditary Motor and Sensory Neuropathy
• COL4A1-Related Brain Small-Vessel Disease
• Morel's Ear
• Congenital Hiatus Hernia
• Autosomal Recessive Woolly Hair Type 3
• Breast Squamous Cell Carcinoma
• Infantile-Onset Axonal Motor and Sensory Neuropathy - Optic Atrophy - Neurodegeneration
• Dementia-Parkinsonism with Non-Alzheimer Amyloid Plaques
• Facial Dysmorphism - Cleft Palate - Hearing Loss - Camptodactyly
• Pleoconial Myopathy with Salt Craving
• Tiger Prawn Allergy
• Complication of Organ Transplantation
• Fetal Nicotine Spectrum Disorder
• Christian-Johnson-Angenieta Syndrome
• Acute Syringitis
• Mitochondrial DNA-Related Leigh Syndrome and NARP
• Cerebral Cavernous Malformations
• Insulin-Dependent Diabetes Mellitus Type 11
• Sideroblastic Anemia Type 4
• Chronic Angina
• Chronic Bilirubin Encephalopathy
• Cortés-Lacassie Syndrome
• Intellectual Developmental Disorder with Dysmorphic Facies - Seizures - Distal Limb Anomalies
• Combined Hyperlipidemia Type 2
• Dysautonomia-Like Disorder
• Carcinoma in Situ
• Primary Malignant Bone Neoplasm
• Transverse Limb Deficiency - Hemangioma
• GNAS Inactivation Disorder
• Neurodevelopmental Disorder with Microcephaly - Epilepsy - Hypomyelination
• Mitochondrial Complex 1 Deficiency Nuclear Type 9
• Erb-Duchenne Palsy - Klumpke Palsy
• Neurodevelopmental Disorder with Involuntary Movements
• Sternal Cyst - Vascular Anomalies
• Isolated Thoracic Dysostosis
• Familial Skewed X Inactivation Type 2
• Neurodevelopmental Disorder with Central Motor Dysfunction - Peripheral Motor Dysfunction
• Fronto-Nasal Malformation - Cloacal Exstrophy
• Postorgasmic Illness Syndrome
• GALOP Syndrome
• Omphalocele - Diaphragmatic Hernia - Radial Ray Defects
• Carboxypeptidase N Deficiency
• Disseminated Intravascular Coagulation in the Newborn
• Non-Syndromic Disorder of Testicular Development
• DOCK2 Deficiency
• Suprofen Allergy
• Joint Contractures - Webbed Neck - Micrognathia - Hypoplastic Nipples
• WAS-Related Disorders
• Fetal Parainfluenza Virus Type 3 Syndrome
• Hydrocephalus - Skeletal Anomalies
• Progressive Transformation of Germinal Centers
• Anotia - Facial Palsy - Cardiac Defect
• X-Linked Lymphoproliferative Disease due to SH2D1A Deficiency
• GM2-Gangliosidosis Types B - B1 - Ab
• Susceptibility to Wilms Tumor
• Susceptibility to Autoimmune Thyroid Disease 2
• Familial Skewed X Inactivation Type 1
• Susceptibility to Bacteremia 1
• Extensive Peripapillary Myelinated Nerve Fibers
• Renal Caliceal Diverticuli - Deafness
• ALS2-Related Disorders
• Congenital Retinal Arteriovenous Communication
• Polycystic Lipomembranous Osteodysplasia-Sclerosing Leukoencephalopathy Syndrome Type 2
• Chlorpropamide-Alcohol Flushing
• Baker-Gordon Syndrome
• Numeric Sex Chromosome Variations
• Plasma Protein Disorder
• Combined Oxidative Phosphorylation Defect Type 37
• Facial Abnormalities - Kyphoscoliosis - Mental Retardation
• Propylthiouracil Embryofetopathy
• Autosomal Recessive Primary Microcephaly Type 25
• Van Allen-Myhre Syndrome
• Dominant Cleft Palate
• Duodenojejunal Atresia - Volvulus - Absent Dorsal Mesentery Artery - Absent Superior Mesenteric Artery
• Mosaic Genome-Wide Paternal Uniparental Disomy
• Brachydactyly due to the Absence of Distal Phalanges
• Insensitivity to Pain - Hyperplastic Myelinopathy
• Neonatal Severe Encephalopathy - Lactic Acidosis - Brain Abnormalities
• Dermotrichic Syndrome
• Hemophilia A with Vascular Abnormality
• Late-Onset Focal Dermal Elastosis
• Congenital Absence of the Vas Deferens in Cystic Fibrosis
• Neurodevelopmental Disorder with Microcephaly - Hypotonia - Variable Brain Anomalies
• Congenital Abnormality of the Nervous System
• Agenesis of the Scrotum
• Melanoma in Congenital Melanocytic Nevus
• Asternia - Cardiac Defects - Diaphragmatic Defects - Abdominal Defects
• Midface Dysplasia
• Corneal Dystrophy - Ichthyosis - Microcephaly - Mental Retardation
• Aniridia - Ptosis - Intellectual Disability - Familial Obesity
• Inborn Error of Steroid Metabolism
• Unexplained Long-Lasting Fever
• Short Stature - Facial Dysmorphism - Skeletal Anomalies - Cardiac Anomalies
• Hypertrophic Neuropathy - Cataract
• SLC39A14 Deficiency
• Tune Deafness
• PNPLA6-Related Spastic Paraplegia - Distal Muscle Wasting
• Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
• Delta Heavy Chain Disease
• Median-Ulnar Nerve Communications
• High-Grade Neuroendocrine Carcinoma of the Cervix Uteri
• Hypertrophic Branchial Myopathy
• Allergy to Brown Shrimps
• Distal Renal Tubular Acidosis - Nephrocalcinosis - Short Stature - Mental Retardation - Distinctive Facies
• Autoimmune Gastrointestinal Dysmotility
• Age-Related Macular Degeneration Type 7
• Specific Language Impairment Type 3
• Cone-Rod Dystrophy - Hearing Loss Type 2
• Major Depressive Disorder Type 2
• Congenital Muscular Dystrophy with Cerebellar Atrophy
• Spastic Paraplegia - Optic Atrophy - Microcephaly - XY Sex Reversal
• Y-Linked Monogenic Disease
• Scalp Angiosarcoma
• Hyaluronidase 2 Deficiency
• Thymus Lipoma
• Pilo-Dento-Ungular Dysplasia - Microcephaly
• Essential Iris Atrophy
• Gonadal Dysgenesis - Dysmorphic Facies - Retinal Dystrophy - Myopathy
• Malignant Extragonadal Non-Seminomatous Germ-Cell Tumor
• X-Linked Syndromic Mental Retardation Type 34
• Silent-Allele Beta-Thalassemia
• Hypomyelinating Leukodystrophy Type 14
• Olivopontocerebellar Atrophy - Deafness
• Car Factor Deficiency
• Ureteral Tuberculosis
• Multiple Types of Congenital Heart Defects Type 5
• Inborn Error of Metal Metabolism
• Far Eastern Spotted Fever
• Cardiac Hydatid Cysts with Intracavitary Expansion
• Maleic Anhydride Allergic Asthma
• Globulin Anomaly Involving Beta-2A-Globulin
• Recurrent Isolated Invasive Pneumococcal Disease Type 2
• SMARCA4-Deficient Thoracic Sarcoma
• FREM1-Related Autosomal Recessive Disorders
• Mills Syndrome
• ANO5-Related Muscle Diseases
• Early Infantile Epileptic Encephalopathy Type 73
• Dislocated Elbows - Bowed Tibias - Scoliosis - Deafness - Cataract - Microcephaly - Mental Retardation
• Secundum Atrial Septal Defect with Various Cardiac and Non-Cardiac Defects
• Alopecia - Mental Retardation - Seizures
• Flat Intraepithelial Lesion of the Bladder
• SYNE1 Deficiency
• Pigmentation Defects - Palmoplantar Keratoderma - Skin Carcinoma
• Spastic Angina with Healthy Coronary Artery
• Mucous Membrane Malignant Melanoma
• Neurodevelopmental Disorder with Regression - Abnormal Movements - Loss of Speech - Seizures
• Acute Alcohol Sensitivity
• Engelhard-Yatziv Syndrome
• Autosomal Recessive Epidermolytic Ichthyosis
• Neonatal Brainstem Dysfunction
• Undefined Platelet Disorder
• Diphenylthiourea Allergic Contact Dermatitis
• Autoimmune Disease of the Skin and Connective Tissue
• Fryns-Smeets-Thiry Syndrome
• Port-Wine Nevi - Mega Cisterna Magna - Hydrocephalus
• Infantile Hypertrophic Pyloric Stenosis Type 5
• Recurrent Isolated Invasive Pneumococcal Disease Type 1
• Dysmorphism - Cleft Palate - Loose Skin
• Recurrent Diffuse Large B-Cell Lymphoma
• Dens in Dente - Palatal Invaginations
• Autoimmune Disease of the Cardiovascular System
• Trisomy 11p
• Toluene Diisocyanate Asthma
• CLCN-Related Osteopetrosis
• Adult Hereditary Glaucoma Type 1A
• Congenital Anomaly of Coronary Arteries
• Double Discordia
• Adult Extraosseous Chondrosarcoma
• Distal Arthrogryposis Type 2B3
• X-Linked Immunodeficiency with GLP115 Deficiency
• PENS Syndrome
• Congenital Diarrhea Type 9
• Congenital Heart Defects - Dysmorphic Facial Features - Intellectual Developmental Disorder
• Neurometabolic Disorder due to Serine Deficiency
• Neurodevelopmental Disorder with Impaired Intellectual Development - Hypotonia - Ataxia
• Ataxia - Deafness - Cardiomyopathy
• Myelinated Optic Nerve Fibers
• Flat Ductal Epithelial Atypia of the Breast
• NEDMAS Syndrome
• Familial Chilblain Lupus Erythematosus
• Early Infantile Epileptic Encephalopathy Type 50
• Trabecular Myopathy
• Stable-Condition Keratoconus
• Snail Allergy
• Variation in Skin/Hair/Eye Pigmentation Type 8
• Osteochondrodysplatic Dwarfism - Deafness - Retinitis Pigmentosa
• Axonal Neuropathy
• Turnpenny-Fry Syndrome
• Malignant Skeletal Muscle Neoplasm
• Metopic Ridging - Ptosis - Facial Dysmorphism
• Postcardiotomy Right Ventricular Failure
• Brainstem Medulloblastoma
• Adnexal Spiradenoma
• Associative Agnosia
• Pulmonary Artery Disease
• Pituitary Dermoid and Epidermoid Cysts
• SALL4-Related Disorders
• Chronic Syringitis
• Tremor of Intention - Ataxia - Lipofuscinosis
• Recombinase Activating Gene 1 Deficiency
• Farmer Syndrome
• Hyperekplexia Type 4
• Retinal Dystrophies Primarily Involving Bruch's Membrane
• Angiokeratoma of Mibelli
• Familial Persistent Stuttering Type 3
• Infantile Multisystem Neurologic Disease with Osseous Fragility
• Hereditary Motor and Sensory Neuropathy Type 1 - Aplasia Cutis Congenita
• Simple Partial Epilepsy
• Cranial Nerve Neoplasm
• Split Lower Lip
• SETBP1-Related Disorder
• Lethal Dwarfism - Advanced Bone Age
• Spondylocostal Dysostosis - Hypospadias - Intellectual Disability
• Lymphopenic Hypergammaglobulinemia - Antibody Deficiency - Autoimmune Hemolytic Anemia - Glomerulonephritis
• Sucrosuria - Hiatus Hernia - Mental Retardation
• Tibial Aplasia - Ectrodactyly - Hydrocephalus
• Multiple Mitochondrial Dysfunctions Syndrome Type 6
• Respiratory Allergy
• Gaucher Disease - Ichthyosis - Restrictive Dermopathy
• Mosaic Variegated Aneuploidy Syndrome Type 3
• Variation in Hair Thickness Type 1
• Vascular Neoplasm
• Acromegaloid Features - Overgrowth - Cleft Palate - Hernia
• Reproductive System Disease
• Witteveen-Kolk Syndrome
• Non-Insulin-Dependent Diabetes Mellitus Type 2
• Platelet-Signal-Processing Defect
• Bowman's Membrane Folds or Rupture
• Congenital Ectodermal Dysplasia with Hearing Loss
• Splenic Tuberculosis
• FRAXF Syndrome
• Creatine Deficiency Syndromes
• Westerhof-Beemer-Cormane Syndrome
• Proteasome-Related Autoinflammatory Syndrome Type 2
• Nelson-Syndrome Dermal Ridges
• Striated-Muscle Rhabdoid Tumor
• Neonatal-Period Electroclinical Syndrome
• Bulbospinal Poliomyelitis
• Chronic Lymphocytic Leukemia - Small Lymphocytic Lymphoma
• Vagneur-Triolle-Ripert Syndrome
• 14q32 Duplication Syndrome
• APC-Related Polyposis Disorders
• Rheumatic Encephalitis
• Pediatric Multiple Sclerosis
• Osteosarcoma in Paget Disease of the Bone
• Autosomal Hereditary Disease
• Renal Aminoaciduria
• Short-Limbed Dwarfism - Edema - Iris Coloboma
• Keratoconus Type 6
• Severe Hepatic Fibrosis due to Schistosoma Mansoni Infection
• Insulin-Dependent Diabetes Mellitus Type 7
• Gonadal Disease
• Neurological Sequelae of Lupus Erythematosus
• Spinal Muscular Atrophy with Mental Retardation
• X-Linked Keloid Scarring - Reduced Joint Mobility - Increased Optic Cup-to-Disc Ratio
• Acral Dysostosis - Dyserythropoiesis
• Genetic Non-Syndromic Obesity
• ANGPT1-Related Hereditary Angioedema with Normal C1Inh
• Idiopathic Generalized Epilepsy Type 2
• Early Myoclonic Encephalopathy
• Malformation of the Arms
• Perinatal Hepatic Jaundice
• Congenital Portosystemic Shunt
• Orbital Lymphangioma
• Pericardial Defect - Diaphragmatic Defect
• Immune Dysregulation - Inflammatory Bowel Disease - Arthritis - Recurrent Infections - Lymphopenia
• Idiopathic Generalized Epilepsy Type 8
• FMR1-Related Disorders
• Combined Oxidative Phosphorylation Deficiency Type 39
• Familial Lissencephaly - Cleft Palate - Cerebellar Hypoplasia
• Androgenetic Alopecia Type 2
• Paget Disease of the Penis
• Severe Infection by Streptococcus Group A
• Syndactyly - Camptodactyly - Scoliosis
• Thrombocytopenia - Cerebellar Hypoplasia - Short Stature
• Sterility due to Immotile Flagella
• Cardiomelic Syndrome Type Stratton-Koehler
• Duodenal Atresia - Tetralogy of Fallot
• Mitochondrial Myopathy with Cataract
• Trisomy 19p
• Malignant Femoral Neoplasm
• Retinitis Pigmentosa Type 85
• Humero-Metacarpal Chondrodysplasia Punctata
• Syndactyly - Ectodermal Dysplasia - Cleft Lip-Palate-Hand-Foot
• Adult-Onset Muscular Dystrophy with Leukoencephalopathy
• Null-Cell Acute Lymphoblastic Leukemia
• Neonatal Antiphospholipid Syndrome
• 16p12.2 Microdeletion Syndrome
• Childhood Leukemia
• Platelet Factor 3 Deficiency
• ELANE-Related Neutropenia
• Macrocystic Neurilemmoma
• Cleft Palate - Colobomata - Radial Synostosis - Deafness
• Triglyceride Storage Disease Type 2
• GRIN2B-Related Neurodevelopmental Disorder
• Retinal Dystrophy with Extraocular Anomalies
• Familial Hypertrophic Cardiomyopathy Type 14
• Variation in Skin/Hair/Eye Pigmentation Type 6
• Spondyloepimetaphyseal Dysplasia with Joint Laxity
• Selective Immunoglobulin Deficiency Disease
• Congenital Heart Disease - Radioulnar Synostosis - Mental Retardation
• Vitamin Metabolic Disorder
• Primary Release Disorder of Platelets
• X-Linked Congenital Stationary Night Blindness
• Autosomal Dominant Congenital Stationary Night Blindness
• Oguchi Disease Type 1
• Congenital Non-Progressive Cone-Rod Synaptic Disorder
• Congenital Stationary Night Blindness Type 1I
• Congenital Stationary Night Blindness Type 1H
• Congenital Stationary Night Blindness Type 1G
• Cutaneous Skeletal Hypophosphatemia Syndrome
• Acute Hydrops Keratoconus
• Polyomavirus Allograft Nephropathy
• Meckel Syndrome Type 13
• Bardet-Biedl Syndrome Type 21
• Bardet-Biedl Syndrome Type 20
• X-Linked Mental Retardation with Isolated Growth Hormone Deficiency
• Joubert Syndrome Type 1
• Senior-Løken Syndrome Type 1
• Leber Congenital Amaurosis Type 19
• Leber Congenital Amaurosis Type 18
• Cone Rod Dystrophy
• Achromatopsia Type 7
• Achromatopsia Type 6
• Achromatopsia Type 5
• Myopia Type 26
• Myopia Type 25
• Myopia Type 20
• Myopia Type 19
• Idiopathic Basal Ganglia Calcification Type 1
• Klippel-Feil Syndrome Type 4 with Nemaline Myopathy and Facial Dysmorphism
• Mayer-Rokitansky-Küster-Hauser Syndrome Type 1
• Platelet-Type Bleeding Disorder 22
• Platelet-Type Bleeding Disorder 21
• Platelet-Type Bleeding Disorder 20
• Autism Spectrum Disorder
• Familial Temporal Lobe Epilepsy Type 8
• Familial Temporal Lobe Epilepsy Type 7
• Familial Temporal Lobe Epilepsy Type 1
• Muscular Dystrophy-Dystroglycanopathy Type A1
• Muscular Dystrophy-Dystroglycanopathy Type A9
• Muscular Dystrophy-Dystroglycanopathy Type C8
• Vegetative Pyoderma Gangrenosum
• Familial Hypertrophic Cardiomyopathy Type 25
• Overgrowth Syndrome with 2q37 Translocation
• Mitochondrial Complex 1 Deficiency Nuclear Type 16
• Insulin-Dependent Diabetes Mellitus 3
• Mitochondrial Complex 1 Deficiency Nuclear Type 30
• Idiopathic Generalized Epilepsy 14
• Symphalangism of Toes
• Short Stature - Mental Retardation - Callosal Agenesis - Heminasal Hypoplasia - Microphthalmia - Atypical Clefting
• Congenital Generalized Hypercontractile Muscle Stiffness Syndrome
• PLP1-Related Disorder
• Multiple Mitochondrial Dysfunctions Syndrome Type 4
• Ego-Dystonic Sexual Orientation
• Childhood Precursor T-Lymphoblastic Lymphoma/Leukemia
• Keratinizing Desquamative Epithelial Squamous Dysplasia of the Urinary Tract
• Spermatogenic Failure 38
• RAB18 Deficiency
• PRRT2-Associated Paroxysmal Movement Disorder
• Y-Linked Deafness 2
• Variation in Skin/Hair/Eye Pigmentation 10
• ADAMTSL4-Related Eye Disorder
• Cerebellopontine Angle Neurinoma
• KMT2B-Related Dystonia
• Age-Related Macular Degeneration 11
• Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct
• Peach Allergy
• GNAO1 Encephalopathy
• Scalp Dermatosis
• Cardiomyopathy - Spherocytosis
• Progressive Encephalopathy with Amyotrophy and Optic Atrophy
• Limb-Girdle Muscular Dystrophy Type 2X
• Autosomal Recessive Muscular Dystrophy with Cardiomyopathy and Triangular Tongue
• Limb-Girdle Muscular Dystrophy Type 2Z
• Autosomal Recessive Myopathy with Rigid Spine and Distal Joint Contractures
• Limb-Girdle Muscular Dystrophy Type 1I
• Nemaline Myopathy Type 11
• Nemaline Myopathy Type 3