8001 to 9000 most common queries

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

• Neonatal Diabetes Mellitus with Congenital Hypothyroidism
• Eiken Syndrome
• Disorder of Carbohydrate Metabolism
• Anonychia Congenita Totalis
• Familial Reactive Perforating Collagenosis
• Elastosis perforans serpiginosa
• Disorder of Pyrimidine Metabolism
• Disorder of Purine Metabolism
• Disorder of Glycerol Metabolism
• Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
• Hereditary Hypotrichosis Simplex
• Atrichia with Papular Lesions
• X-Linked Membranoproliferative Glomerulonephritis
• Sarcocystosis
• Mazabraud Syndrome
• Sorsby's Fundus Dystrophy
• Fazio-Londe Disease
• SUNCT Syndrome
• Pulmonary Nodular Lymphoid Hyperplasia
• McLeod Neuroacanthocytosis Syndrome
• Gestational Trophoblastic Neoplasm
• Idiopathic Bronchiectasis
• Recurrent Respiratory Papillomatosis
• Pudendal Neuralgia
• IgG4-Related Mediastinitis
• Linear IgA Dermatosis
• Craniorachischisis
• Recurrent Acute Pancreatitis
• Pulmonary Blastoma
• Hepatoportal Sclerosis
• Iridocorneal Endothelial Syndrome
• Oroya Fever
• Granulomatous Mastitis
• Childhood Absence Epilepsy
• Tarlov Cyst
• Chronic Thyroiditis
• Monomelic Amyotrophy
• Benign Recurrent Intrahepatic Cholestasis
• Isolated Partial Vaginal Agenesis
• Congenital Pseudoarthrosis of Clavicle
• Cutaneous Mastocytosis
• B-Cell Chronic Lymphocytic Leukemia
• Segmental Odontomaxillary Dysplasia
• 3-Methylglutaconic Aciduria Type 4
• Nephrotic Syndrome with Minimal Changes
• Anhidrotic Ectodermal Dysplasia - Immunodeficiency - Osteopetrosis - Lymphedema Syndrome
• Anonychia with Flexural Pigmentation
• Athabaskan Brainstem Dysgenesis Syndrome
• Warty Dyskeratoma
• Cholangiocarcinoma
• Meconium Aspiration Syndrome
• Posttransplant Lymphoproliferative Disease
• Bronchopulmonary Dysplasia
• Retinal Cavernous Hemangioma
• Rh Deficiency Syndrome
• Renal Nutcracker Syndrome
• Hypoalphalipoproteinemia
• Nocardiosis
• Rat-Bite Fever
• Ethylene Glycol Poisoning
• Hypersensitivity Pneumonitis due to Other Organic Dusts
• Kimura Disease
• Susac Syndrome
• Junctional Epidermolysis Bullosa
• Familial Cylindromatosis
• Dyschromatosis Universalis Hereditaria
• Hyperkeratosis Lenticularis Perstans
• Syringocystadenoma Papilliferum
• Tinea barbae and Tinea capitis
• Proliferating Trichilemmal Cyst
• Acquired Hypertrichosis Lanuginosa
• Hereditary Hypotrichosis Type Marie Unna
• Trichofolliculoma
• Acquired Kinky Hair Syndrome
• Familial Atrial Myxoma
• Familial Atrial Fibrillation Type 2
• Pulmonary Branch Stenosis
• Congenital Mitral Stenosis
• Central Precocious Puberty Type 1
• Adrenal Incidentaloma
• Reflex Epilepsy
• Fetal and Neonatal Alloimmune Thrombocytopenia
• Prekallikrein Deficiency, Congenital, Autosomal Recessive
• Hypoplasminogenemia
• Atresia of Urethra
• Acquired Ichthyosis
• Familial Keratoacanthoma
• Hereditary Leiomyomatosis and Renal Cell Cancer
• Brooke-Spiegler Syndrome
• Peeling Skin Syndrome
• Wells Syndrome
• Hypogonadotropic Hypogonadism Type 7
• Tungiasis
• DEND Syndrome
• Heterotaxia
• Echinococcus Granulosus Infection
• Echinococcus Granulosus Infection of Other Sites
• Echinococcus Granulosus Infection of Bone
• Echinococcus Granulosus Infection of Lung
• Echinococcus Granulosus Infection of Liver
• Hymenolepiasis
• Creeping Myiasis
• Loose Anagen Syndrome
• Crandall Syndrome
• Erosive Pustular Dermatosis of the Scalp
• Acute Erythremia
• Wagner Disease
• Pseudopelade of Brocq
• Angiostrongyliasis due to Parastrongylus Cantonensis
• Strongyloidiasis
• Demodicosis
• Diphyllobothriasis
• Tick-Borne Encephalitis
• Epidermodysplasia Verruciformis
• Amoebiasis due to Free-Living Amoebae
• Limb-Girdle Muscular Dystrophy Type 2F
• Accessory Pancreas
• Diphallia
• Congenital Stenosis of the Cervical Spinal Canal
• Acquired Coagulation Factor Deficiency
• Hereditary Diffuse Gastric Cancer
• Juvenile Temporal Arteritis
• Multiple System Atrophy
• Familial Hyperaldosteronism Type 2
• Epilepsy with Continuous Spike-and-Slow-Waves during Sleep
• Apparent Mineralocorticoid Excess
• Hereditary Pheochromocytoma-Paraganglioma
• Familial Ossifying Fibroma
• Anterior Urethral Valve
• Adenocarcinoma of Gallbladder and Extrahepatic Biliary Tract
• Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract
• Squamous Cell Carcinoma of Rectum
• Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome
• Clear Cell Renal Cell Carcinoma
• Sotos Syndrome Type 2
• Disorders of Visual Cortex
• Familial Chylomicronemia Syndrome
• Hypothalamic Adipsic Hypernatraemia Syndrome
• Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency
• Orthostatic Intolerance due to NET Deficiency
• Maturity-Onset Diabetes of the Young
• Maturity-Onset Diabetes of the Young Type 2
• MODY Type 1
• Central Serous Chorioretinopathy
• ABri Amyloidosis
• ADan Amyloidosis
• Pediatric Arterial Ischemic Stroke
• Placental Insufficiency
• Zinc-Responsive Necrolytic Acral Erythema
• GCGR-Related Hyperglucagonemia
• Human Infection by Orthopoxvirus
• Thrombomodulin-Related Bleeding Disorder
• Hereditary Cryohydrocytosis with Normal Stomatin
• Neonatal Scleroderma
• Avascular Necrosis of Genetic Origin
• Deep Dermatophytosis
• CEP19 Deficiency
• X-Linked Osteoporosis with Fractures
• Xanthomatosis, Susceptibility to
• Transient Neonatal Myasthenia Gravis
• Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
• Pulmonary Non-Tuberculous Mycobacterial Infection
• Hereditary Late-Onset Parkinson Disease
• Secondary Polyarteritis nodosa
• Female Infertility due to Fertilization Defect
• Scott Syndrome
• Familial Bicuspid Aortic Valve
• Female Infertility due to Anovulation
• Female Infertility due to an Implantation Defect of Genetic Origin
• Autosomal Recessive Spastic Paraplegia Type 64
• Autosomal Recessive Spastic Paraplegia Type 63
• Proximal Myopathy with Extrapyramidal Signs
• Autosomal Recessive Spastic Paraplegia Type 61
• Familial Exudative Vitreoretinopathy
• Exudative Vitreoretinopathy Type 3
• Exudative Vitreoretinopathy Type 2
• Occipital Horn Syndrome
• Familial Isolated Congenital Asplenia
• Idiopathic Spontaneous Coronary Artery Dissection
• IgG4-Related Kidney Disease
• IgG4-Related Aortitis
• Mannose-Binding Lectin Deficiency
• IgG4-Related Ophthalmic Disease
• Eosinophilic Angiocentric Fibrosis
• Polyclonal Hypergammaglobulinemia
• Familial Congenital Nasolacrimal Duct Obstruction
• Anti-p200 Pemphigoid
• Isolated Tracheo-Esophageal Fistula
• Holmes-Adie Syndrome
• X-linked myotubular myopathy-abnormal genitalia syndrome
• Pituitary Gland Carcinoma
• Syndactyly (Feet)
• Acheiria, unilateral
• Non-Infectious Anterior Uveitis
• PTEN Hamartoma Tumor Syndrome
• Nephrotic Syndrome Type 5
• Chronic Diarrhea due to Glucoamylase Deficiency
• ALK-Negative Anaplastic Large-Cell Lymphoma
• Amyotrophic Lateral Sclerosis Type 5
• Hairy Cell Leukemia Variant
• T-Cell-Rich Large B Cell Lymphoma
• Staphylococcal Toxemia
• Oligodontia-Cancer Predisposition Syndrome
• Autosomal Recessive Infantile Hypercalcemia
• Juvenile Sandhoff Disease
• Adult Sandhoff Disease
• Infantile Sandhoff Disease
• Gangliosidosis
• Juvenile Metachromatic Leukodystrophy
• GM2-Gangliosidosis Variant AB
• Adult Metachromatic Leukodystrophy
• Microcephalic Osteodysplastic Primordial Dwarfism Type II
• Chordoma
• Familial Apolipoprotein C-II Deficiency
• Combined Pancreatic Lipase - Colipase Deficiency
• Disorder of Lipid Metabolism
• Branched-Chain Ketoacid Dehydrogenase Deficiency
• Disorder of Beta and Omega Amino Acid Metabolism
• Carbon Monoxide-Induced Parkinsonism
• Diffuse Palmoplantar Keratoderma
• Ameloblastic Carcinoma
• Levy-Shanske Syndrome
• Optic Nerve Edema-Splenomegaly Syndrome
• Disorder of Catecholamine Synthesis
• Disorder of Manganese Transport
• Reversible Cerebral Vasoconstriction Syndrome
• Pleuropulmonary Blastoma
• IgG4 Syndrome
• Serpiginous Choroiditis
• Panuveitis
• Hypocalcemic Vitamin D-Dependent Rickets
• Autosomal Recessive Hypophosphatemic Rickets Type 2
• Infective Dermatitis Associated with HTLV-1
• Familial Vesicoureteral Reflux
• Marfan Syndrome Type 2
• Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection
• Acute Zonal Occult Outer Retinopathy
• Adult Idiopathic Neutropenia
• Kinsbourne Syndrome
• Wissler-Fanconi Syndrome
• 46,XX Testicular Disorder of Sex Development
• 46,XX Sex Reversal Type 2
• Pleomorphic Rhabdomyosarcoma
• Acute Generalized Exanthematous Pustulosis
• Insulin-Resistance Syndrome Type B
• Familial Mitral Valve Prolapse
• Neutropenia and Hyperlymphocytosis with Large Granular Lymphocytes
• Epstein-Barr Virus-Associated Lymphoproliferative Disorder
• Plasmablastic Lymphoma
• Myopericytoma
• Transient Hyperammonemia of the Newborn
• Congenital Absence of Both Lower Leg and Foot
• Apodia
• Congenital Absence of both Forearm and Hand
• Congenital Absence of Thigh and Lower Leg with Foot Present
• Congenital Pseudoarthrosis of the Tibia
• Congenital Elbow Dislocation
• Congenital Shoulder Dislocation
• Amelia of Upper Limb
• Upper Limb Hypertrophy
• Radial Hemimelia
• Amelia of Lower Limb
• Congenital Absence of Upper Arm and Forearm with Hand Present
• Fibular Hemimelia
• Non-Syndromic Tibial Hemimelia
• Congenital Longitudinal Deficiency of the Ulna
• Fixed Pigmented Erythema
• Lethal Occipital Encephalocele - Skeletal Dysplasia Syndrome
• Congenital Deformities of Limbs
• Autosomal Dominant Mental Retardation Type 26
• Oncogenic Osteomalacia
• Coloboma of Choroid and Retina
• Ocular Albinism with Congenital Sensorineural Deafness
• Familial Primary Localized Cutaneous Amyloidosis
• Oculocutaneous Albinism Type 1
• Bainbridge-Ropers Syndrome
• Oral Submucous Fibrosis
• New-Onset Refractory Status Epilepticus
• Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome
• Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia
• Familial Benign Flecked Retina
• Hydroa Vacciniforme-Like Lymphoma
• Acute Infantile Liver Failure-Multisystemic Involvement Syndrome
• Oculocutaneous Albinism Type 6
• Mixed Functioning Pituitary Adenoma
• SHOX-Related Short Stature
• Congenital Malformations of Other Endocrine Glands
• Acquired Porencephaly
• Mycobacterium xenopi Infection
• Venezuelan Hemorrhagic Fever
• Fanconi Anemia Complementation Group D1
• Familial Papillary or Follicular Thyroid Carcinoma
• Translocation Renal Cell Carcinoma
• Chromophobe Renal Cell Carcinoma
• Papillary Renal Cell Carcinoma 
• Hantavirus Pulmonary Syndrome
• Retinal Macular Dystrophy Type 2
• Constitutional Megaloblastic Anemia due to Folate Metabolism Disorder
• Immunodeficiency Type 27B
• X-linked Cleft Palate and Ankyloglossia
• Chikungunya
• Hendra Virus Infection
• Chronic Recurrent Multifocal Osteomyelitis
• Leydig Cell Hypoplasia due to LHB Deficiency
• Immunoglobulin-Mediated Membranoproliferative Gomerulonephritis
• Acute Nephritic Syndrome with Diffuse Membranoproliferative Glomerulonephritis
• Lipoprotein Glomerulopathy
• Hemoglobin Lepore-Beta-Thalassemia Syndrome
• Immunodeficiency due to Ficolin 3 Deficiency
• Immunodeficiency due to MASP-2 Deficiency
• Immunodeficiency Predominantly Affecting Antibody Production
• Nijmegen Breakage Syndrome-Like Disorder
• Cisplatin Toxicity
• Efavirenz Toxicity
• Primary Orthostatic Tremor
• Megacystis - Megaureter Syndrome
• Familial Hypercholanemia
• Familial Congenital Mirror Movements
• Generalized Dominant Dystrophic Epidermolysis bullosa
• Congenital Trigeminal Anesthesia
• Erythema Palmaris Hereditarium
• Acromelanosis
• Atypical Teratoid Rhabdoid Tumor
• Familial Hypocalciuric Hypercalcemia Type 3
• Familial Cerebral Saccular Aneurysm
• Chronic Diarrhea with Villous Atrophy
• Usher Syndrome Type 2
• Autosomal Recessive Distal Renal Tubular Acidosis
• Renal Tubular Acidosis Type 1
• Oromandibular Dystonia
• Alpha-Thalassemia - Myelodysplasia Syndrome
• Acute Pandysautonomia
• Idiopathic Orthostatic Hypotension
• Pure Autonomic Failure
• Idiopathic Camptocormia
• Benign Familial Infantile Epilepsy Type 4
• Baló Concentric Sclerosis
• Leiomyoma of Vulva and Esophagus
• Non-Brugada-Type Idiopathic Ventricular Fibrillation
• Overhydrated Hereditary Stomatocytosis
• Acquired Cutis Laxa
• Primary Anetoderma
• Anetoderma Type Jadassohn-Pellizzari
• Anetoderma Type Schweninger-Buzzi
• Acquired Pseudoxanthoma elasticum
• Elastoderma
• Food-Borne Botulism
• Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
• Familial Pancreatic Carcinoma
• Klippel-Feil Syndrome Type 3
• Autosomal Recessive Agammaglobulinemia
• Butyrylcholinesterase Deficiency
• Adult Fanconi Syndrome
• Primary Syringomyelia
• Anophthalmia - Microphthalmia Syndrome
• Congenital Cystic Eyeball
• Dent Disease
• Autosomal Dominant Larsen Syndrome
• Y-Linked Pseudoautosomal Hodgkin Lymphoma
• X-Linked Pseudoautosomal Hodgkin Lymphoma
• Malignant Peripheral Nerve Sheath Tumor
• Neuroepithelioma
• Solitary Fibrous Tumor
• Acute Lymphoblastic Leukemia with Lymphomatous Features
• Hereditary Breast Cancer
• Primary Cutaneous Anaplastic Large-Cell Lymphoma
• Hughes-Stovin Syndrome
• Toxic Oil Syndrome
• Testicular Germ Cell Tumor
• Fowler Syndrome
• Hemochromatosis Type 3
• Familial Cerebral Cavernous Malformation
• Dural Sinus Malformation
• Anemia due to Adenosine Triphosphatase Deficiency
• Hereditary Sclerosing Poikiloderma
• Cranial Neuralgia
• Familial Dyskinesia and Facial Myokymia
• Lymphangioleiomyomatosis
• Hereditary Breast and Ovarian Cancer Syndrome
• RAD51D-Associated Hereditary Breast and Ovarian Cancer Syndrome
• RAD51C-Associated Hereditary Breast and Ovarian Cancer Syndrome
• Hyperdibasic Aminoaciduria Type 1
• Lysinuric Protein Intolerance
• Joubert Syndrome Type 7
• Laron Syndrome with Immunodeficiency
• Bleeding Diathesis due to Thromboxane Receptor A2 Defect
• Dicarboxylic Aminoaciduria
• Hyperlysinemia Type 1
• Congenital Fibrinogen Deficiency
• Plague
• Primary Cutaneous Lymphoma
• Aortopulmonary Fistula
• Familial Pulmonary Arterial Hypertension
• Double Outlet Left Ventricle
• Aortic Arch Interruption
• Combined Oxidative Phosphorylation Defect Type 8
• Discrete Fibromuscular Subaortic Stenosis
• Sensorineural Deafness with Dilated Cardiomyopathy
• Anomaly of Coronary Vessels
• Congenital Pulmonary Valve Insufficiency
• Pulmonary Atresia with Ventricular Septal Defect
• Abnormal Origin of the Pulmonary Artery
• Aneurysm of Sinus of Valsalva
• X-linked Cardiac Valvular Dysplasia
• Neonatal Acute Respiratory Distress due to SP-B Deficiency
• Autoimmune Interstitial Lung Disease - Arthritis Syndrome
• Pulmonary Interstitial Glycogenosis
• Microsporidiosis
• Hantavirosis
• Congenital Microcoria
• Cysticercosis of Eye
• West African Trypanosomiasis
• Chronic Epstein-Barr Virus Infection Syndrome
• Pouchitis
• Sézary Syndrome
• Birdshot Chorioretinopathy
• MC3R Deficiency
• Glycogen Storage Disease due to GLUT2 Deficiency
• Acrofacial Dysostosis Type Palagonia
• Familial Glucocorticoid Deficiency
• Ring Chromosome 17
• Osteogenesis Imperfecta Type 5
• Double Uterus - Hemivagina - Renal Agenesis Syndrome
• Syndactyly - Polydactyly - Ear Lobe Syndrome
• Congenital Radioulnar Synostosis
• Familial Variable Immunodeficiency
• Common Variable Immunodeficiency with Autoantibodies to B- or T-Cells
• Common Variable Immunodeficiency with Predominant Immunoregulatory T-Cell Disorders
• Common Variable Immunodeficiency with Predominant Abnormalities of B-Cell Numbers and Functions
• Aorto-Left Ventricular Tunnel
• Congenital Pulmonary Valve Stenosis
• Uterine Sarcoma
• Subpulmonary Stenosis
• Absence of Innominate Vein
• Congenitally Uncorrected Transposition of the Great Arteries
• Congenital Pulmonary Veins Atresia or Stenosis
• Susceptibility to Malignant Cutaneous Melanoma 9
• Familial Atypical Multiple Mole Melanoma Syndrome
• Familial Melanoma
• Familial Melanoma of the Eyelid
• Familial Melanoma of the Lip
• Rhizomelic Chondrodysplasia Punctata
• 2-Aminoadipic 2-Oxoadipic Aciduria
• Congenital Disorder of Glycosylation
• Kaposiform Hemangioendothelioma
• Rare Arteriovenous Malformation
• Nephronophthisis 9
• Nephronophthisis 12
• Nephronophthisis 7
• Nephrotic Syndrome Type 10
• Focal Segmental Glomerulosclerosis Type 5
• Focal Segmental Glomerulosclerosis Type 3
• Focal Segmental Glomerulosclerosis Type 2
• Segmental Glomerulosclerosis
• Nephrotic Syndrome with Diffuse Mesangial Proliferative Glomerulonephritis
• Lymphatic Filariasis
• Tufted Angioma
• Spindle Cell Hemangioma
• Amoebiasis due to Entamoeba histolytica
• Spastic Quadriplegic Cerebral Palsy Type 2
• Mal de Débarquement
• Rhegmatogenous Retinal Detachment
• Extraskeletal Myxoid Chondrosarcoma
• Sacral Hemangiomas - Multiple Congenital Abnormalities Syndrome
• Idiopathic Copper-Associated Cirrhosis
• Developmental Verbal Dyspraxia
• Solitary Rectal Ulcer Syndrome
• Celiac Disease, Epilepsy and Cerebral Calcification Syndrome
• Constitutional Anemia due to Iron Metabolism Disorder
• Umbilical Cord Ulceration-Intestinal Atresia Syndrome
• Autosomal Recessive Osteopetrosis Type 6
• Siegler-Brewer-Carey Syndrome
• Sacrococcygeal Dysgenesis Association
• Hirschsprung Disease - Ganglioneuroblastoma Syndrome
• Craniosynostosis Type 2
• Brachydactylous Dwarfism Type Mseleni
• Progeroid Syndrome Type Petty
• Arthrogryposis-Hyperkeratosis Syndrome, Lethal Form
• Radio-Ulnar Synostosis - Retinal Pigment Abnormalities Syndrome
• Myopathy, Endocrine
• Bacterial Myositis
• X-Linked Syndromic Mental Retardation Type Hyde-Forster
• Feigenbaum-Bergeron-Richardson Syndrome
• Succinic Acidemia
• Bardet-Biedl Syndrome
• Lynch Syndrome
• Hereditary Multiple Exostoses Type 3
• Liver Congenital Amaurosis Type 11
• Leber Congenital Amaurosis Type 8
• Leber Congenital Amaurosis Type 7
• Leber Congenital Amaurosis Type 6
• Leber Congenital Amaurosis Type 10
• Leber Congenital Amaurosis Type 12
• Leber Congenital Amaurosis Type 5
• Leber Congenital Amaurosis Type 2
• Retinal Aplasia
• Granulomatous Myositis
• X-Linked Mental Retardation Type 44
• X-Linked Mental Retardation Type 1
• X-Linked Mental Retardation Type 88
• X-Linked Mental Retardation Type 92
• X-Linked Mental Retardation Type 41
• X-Linked Mental Retardation Type 89
• X-Linked Mental Retardation Type 19
• X-Linked Mental Retardation Type 97
• X-Linked Mental Retardation Type 95
• Xp11.22 Duplication Syndrome
• X-Linked Mental Retardation Type 82
• X-Linked Mental Retardation Type 84
• X-Linked Mental Retardation Type 45
• X-Linked Mental Retardation Type 77
• X-Linked Mental Retardation Type 81
• X-Linked Mental Retardation Type 2
• ARX-Related X-Linked Mental Retardation
• X-Linked Mental Retardation Type 63
• X-Linked Mental Retardation Type 42
• X-Linked Mental Retardation Type 73
• X-Linked Mental Retardation Type 53
• X-Linked Mental Retardation Type 58
• X-linked Mental Retardation Type 50
• Raynaud-Claes Syndrome
• X-Linked Mental Retardation Type 14
• X-linked Mental Retardation Type 20
• X-Linked Mental Retardation Type 23
• Familial Thoracic Aortic Aneurysm 1
• Aortic Dissection
• Xeroderma Pigmentosum-Cockayne Syndrome Complex
• Hereditary Spherocytosis Type 5
• Hereditary Spherocytosis Type 4
• Hereditary Spherocytosis Type 3
• Hypogonadotropic Hypogonadism Type 9
• Kallmann Syndrome Type 6
• Kallmann Syndrome Type 5
• Kallmann Syndrome Type 1
• Gonadoblastoma
• Benign Ovarian Neoplasm
• Adult Krabbe Disease
• Autoimmune Necrotizing Myopathy
• Infundibulopelvic Stenosis - Multicystic Kidney Syndrome
• Malignant Ovarian Neoplasm
• Hypospadias
• Perineal Hypospadias
• Penoscrotal Hypospadias
• Familial Hypospadias
• Panayiotopoulos Syndrome
• Congenital Alpha-2-Antiplasmin Deficiency
• Glycogen Storage Disease due to Hepatic Glycogen Synthase Deficiency
• Hypnic Headache
• Proximal Symphalangism
• Cardio-Spondylo-Carpo-Facial Syndrome
• Familial Multinodular Goiter
• Cochleosaccular Degeneration - Cataract Syndrome
• Conductive Deafness - Ptosis - Skeletal Anomalies Syndrome
• Progressive Deafness with Stapes Fixation
• Infantile Symmetrical Thalamic Degeneration
• Pars Planitis
• Intermediate Uveitis
• Chronic Endophthalmitis
• Hapnes-Boman-Skeie Syndrome
• Tel Hashomer Camptodactyly Syndrome
• Teebi-Shaltout Syndrome
• Apolipoprotein A-I Deficiency
• Macrocephaly - Mental Retardation - Hypotonia - Radioulnar Synostosis Syndrome
• Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
• Humero-Radial Synostosis
• Transitional Pelizaeus-Merzbacher Disease
• Spondyloenchondrodysplasia
• Eyebrow Duplication - Syndactyly Syndrome
• Spinocerebellar Degeneration - Corneal Dystrophy 
• Classic Pelizaeus-Merzbacher Disease
• Senior-Løken Syndrome Type 7
• Medullary Cystic Kidney Disease
• Idiopathic Anterior Uveitis
• Calciphylaxis
• Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
• Conductive Deafness - Malformed External Ear Syndrome
• Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
• Generalized Resistance to Thyroid Hormones
• Summitt Syndrome
• Deafness - Opticoacoustic Nerve Atrophy - Dementia Syndrome
• Yemenite Deaf Blind Hypopigmentation Syndrome
• Sebocystomatosis
• Stimmler Syndrome
• Hereditary Hyperekplexia
• Van den Bosch Syndrome
• Isolated Arhinencephaly
• Bilateral Polymicrogyria
• Verloove-Van Horick-Brubakk Syndrome
• Vásquez-Hurst-Sotos Syndrome
• Kozlowski Brown Hardwick Syndrome
• Worster-Drought Syndrome
• Multicentric Osteolysis - Nodulosis - Arthropathy
• Young Syndrome
• Mounier-Kühn Syndrome
• Neuhauser-Daly-Magnelli Syndrome
• Treft-Sanborn-Carey Syndrome
• Tricho-Oculo-Dermo-Vertebral Syndrome
• Autoimmune Lymphoproliferative Disease Type Dianzani
• Myostatin-Related Muscle Hypertrophy
• Trichoodontoonychial Dysplasia
• Familial Thiemann Disease
• Thoracolaryngopelvic Dysplasia
• Hoyeraal-Hreidarsson Syndrome
• Braddock-Carey Syndrome
• Thyro-Cerebro-Renal Syndrome
• Absent Tibia - Polydactyly - Arachnoid Cyst Syndrome
• Mosaic Trisomy 7
• Hemolytic Disease of the Newborn with Kell Alloimmunization
• Isolated Anterior Cervical Hypertrichosis
• Humerus Trochlea Aplasia
• Odonto-Onycho-Hypohidrotic Dysplasia-Midline Scalp Defects Syndrome
• Multiple Endocrine Neoplasia Type 4
• Salivary Gland Pleomorphic Adenoma
• Upington Disease
• Trichodysplasia - Xeroderma Syndrome
• Isolated Trigonocephaly
• Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
• Drug- or Toxin-Induced Pulmonary Arterial Hypertension
• Congenital Chylothorax
• Autoimmune Pulmonary Alveolar Proteinosis
• Polydactyly-Myopia Syndrome
• POEMS Syndrome
• Crossed Polysyndactyly
• Prata-Libéral-Gonçalves Syndrome
• Radiation Exposure-Related Interstitial Lung Disease
• Drug or Radiation Exposure-Related Interstitial Lung Disease
• Bilateral Renal Agenesis
• Chronic Intestinal Pseudoobstruction
• CAID Syndrome
• Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
• Autosomal Dominant Prognathism
• Intermittent Maple Syrup Urine Disease
• Stiff Skin Syndrome
• Classic Maple Syrup Urine Disease
• Intermediate Maple Syrup Urine Disease
• Complication of Hemodialysis
• Antinolo-Nieto-Borrego Syndrome
• Fitzsimmons-Walson-Mellor Syndrome
• Partington-Anderson Syndrome
• Spastic Paraplegia - Precocious Puberty
• Serpentine Fibula - Polycystic Kidneys Syndrome
• Iniencephaly
• Ray-Peterson-Scott Syndrome
• X-Linked Neural Tube Defects
• Camptodactyly - Arthropathy - Coxa Vara - Pericarditis Syndrome
• Congenital Pericardium Anomaly
• Disproportionate Short Stature - Ptosis - Valvular Heart Lesions
• Short Stature Type Brussels
• Cardiocranial Syndrome Type Pfeiffer
• Pfeiffer-Palm-Teller Syndrome
• Phakomatosis Pigmentokeratotica
• Cranial Meningocele
• Spina Bifida Aperta
• Cervical Spina Bifida without Hydrocephalus
• Spina Bifida with Hydrocephalus
• Thoracic Spina Bifida with Hydrocephalus
• Cervical Spina Bifida with Hydrocephalus
• Short Stature - Wormian Bones - Dextrocardia Syndrome
• Chitayat-Meunier-Hodgkinson Syndrome
• Isolated Amyelia
• Pili Torti - Onychodysplasia Syndrome
• Neurenteric Cyst
• Pili Torti - Developmental Delay - Neurological Abnormalities Syndrome
• Arnold-Chiari Malformation Type 1
• Pilotto Syndrome
• Pinsky - Di George - Harley Syndrome
• Phocomelia Type Schinzel
• Lipomyelomeningocele
• Cutaneous Photosensitivity - Lethal Colitis Syndrome
• Chronic Actinic Dermatitis
• Piebald Trait - Neurologic Defects Syndrome
• Gustavson Syndrome
• Rhizomelic Syndrome Type Urbach
• Congenital Partial Pulmonary Venous Return Anomaly
• Retinohepatoendocrinologic Syndrome
• Robinow-Sorauf Syndrome
• Rombo Syndrome
• Schinzel-Giedion Syndrome
• Say Barber Miller Syndrome
• Nephrogenic Diabetes Insipidus-Intracranial Calcification Syndrome
• Familial Pterygium of the Conjunctiva
• Uniparental Disomy of Chromosome 21
• Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome
• McPherson-Robertson-Cammarano Syndrome
• Ptosis - Vocal Cord Paralysis Syndrome
• Moderately-Differentiated Thymic Neuroendocrine Carcinoma
• Qazi-Markouizos Syndrome
• Absent Radius - Anogenital Anomalies Syndrome
• Congenital Smooth Muscle Hamartoma
• Radio-Renal Syndrome
• Rambaud-Gallian Syndrome
• Congenital Disorder of Glycosylation Type 2I
• Congenital Disorder of Glycosylation Type 1O
• Rasmussen Johnsen Thomsen Syndrome
• RAPADILINO Syndrome
• Congenital Disorder of Glycosylation Type 2G
• Radial Ray Hypoplasia - Choanal Atresia Syndrome
• Meckel Syndrome Type 7
• Congenital Bilateral Megacalycosis
• Familial Multiple Meningioma
• Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
• X Chromosome Anomaly
• Young-Simpson Syndrome
• Y Chromosome Anomaly
• Syndesmodysplasic Dwarfism
• Osteoglophonic Dwarfism
• Mesomelic Dysplasia Type Reinhardt-Pfeiffer
• Mesomelic Dysplasia Type Langer
• Geleophysic Dysplasia
• Trisomy 20p
• Nail-Patella-Like Renal Disease
• 3M Syndrome Type 2
• Bird-Headed Dwarfism Type Montreal
• Trisomy 17p
• Tubular Aggregate Myopathy
• Distal Monosomy 9p
• Myelocerebellar Disorder
• 15q11.2 Microdeletion Syndrome
• Moore-Federman Syndrome
• Mononen-Karnes-Senac Syndrome
• Microspherophakia - Metaphyseal Dysplasia Syndrome
• Partial Monosomy 9p
• Partial Monosomy 10p
• Partial Monosomy 8p
• Pontocerebellar Hypoplasia Type 2
• Pontocerebellar Hypoplasia Type 2C
• Autosomal Dominant Microcephaly
• Congenital Symmetric Circumferential Skin Creases
• Metachondromatosis
• FATCO Syndrome
• Gestational Trophoblastic Disease
• Complete Hydatidiform Mole
• Epithelioid Trophoblastic Tumor
• Partial Pancreatic Agenesis
• Parana Hard-Skin Syndrome
• Familial Recurrent Peripheral Facial Palsy
• Spastic Paraplegia - Glaucoma - Intellectual Disability
• Diomedi-Bernardi-Placidi Syndrome
• Spastic Paraparesis-Deafness Syndrome
• Infantile Malignant Osteopetrosis
• Autosomal Recessive Osteopetrosis Type 2
• Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
• Autosomal Dominant Osteopetrosis Type 1
• Autosomal Dominant Osteosclerosis Type Worth
• Inhalational Botulism
• Frontal Fibrosing Alopecia
• Lateral Meningocele Syndrome
• Pachydermoperiostosis, Autosomal Dominant
• Otoonychoperoneal Syndrome
• OSLAM Syndrome
• Melanoma-Astrocytoma Syndrome
• Progressive Osseous Heteroplasia
• Malignant Triton Tumor
• Carpotarsal Osteochondromatosis
• Osteomesopyknosis
• Lichen Planopilaris
• Actinic Lichen Planus
• Bullous Lichen Planus
• Rare Cutaneous Lichen Planus
• Onycho-Tricho-Dysplasia-Neutropenia Syndrome
• Tumor of Meninges
• Meningeal Melanocytoma
• Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
• Malignant Perineurioma
• Joubert Syndrome Type 10
• Autosomal Dominant Sideroblastic Anemia
• Eye Defects - Arachnodactyly - Cardiopathy Syndrome
• Odontomatosis - Aortae Esophagus Stenosis Syndrome
• Odonto-Onycho-Dermal Dysplasia
• Oculo-Cerebral Hypopigmentation Syndrome Type Preus
• Oculocerebral Hypopigmentation Syndrome Type Cross
• Blepharophimosis-Intellectual Disability Syndrome Type Ohdo
• Oculocerebral Dysplasia
• Ochoa Syndrome
• Oculotrichodysplasia
• Oculorenocerebellar Syndrome
• Oculo-Palato-Cerebral Syndrome
• Oligomeganephronia
• Dwarfism - Tall Vertebrae
• Neurofibromatosis Type 6
• Idiopathic Recurrent Pericarditis
• MASS Syndrome
• Abnormalities of Size and Form of Teeth
• Congenital Microvillous Atrophy
• Non-Infective Neonatal Diarrhea
• Neuronal Intranuclear Inclusion Disease
• Congenital Velopharyngeal Incompetence
• Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
• Benign Concentric Annular Macular Dystrophy
• Parietal Foramina with Cleidocranial Dysplasia
• Pigmented Paravenous Retinochoroidal Atrophy
• Pachyonychia Congenita Type 4
• Pachyonychia Congenita Type 3
• Congenital Onychauxis
• Absence or Deformity of Leg- Cataract Syndrome
• 46,XY Sex Reversal Type 9
• Rare Tumor of Neuroepithelial Tissue
• Familial Joint Laxity
• Sickle Cell - Beta-Thalassemia
• Sickle Cell-Hemoglobin E Disease Syndrome
• Pancreatic Hypoplasia - Diabetes - Congenital Heart Disease Syndrome
• Thumb Deformity - Alopecia - Pigmentation Anomaly Syndrome
• 1q21.1 Microdeletion Syndrome
• Congenital Unilateral Pulmonary Hypoplasia
• Megacystis - Microcolon - Intestinal Hypoperistalsis Syndrome
• Ichthyosis Follicularis - Alopecia - Photophobia Syndrome
• Ichthyosis - Oral and Digital Anomalies Syndrome
• Superficial Epidermolytic Ichthyosis
• Hypospadias - Intellectual Disability Syndrome Type Goldblatt
• Ichthyosis-Cheek-Eyebrow Syndrome
• Pineoblastoma
• Malignant Hyperthermia - Arthrogryposis - Torticollis
• Cervical Hypertrichosis - Peripheral Neuropathy Syndrome
• Pineocytoma
• Papillary Tumor of the Pineal Region
• Choroid Plexus Tumor
• Choroid Plexus Carcinoma
• Atypical Papilloma of Choroid Plexus
• Central Nervous System Primitive Neuroectodermal Tumor
• Ganglioneuroblastoma
• Palmoplantar Keratoderma-Spastic Paralysis Syndrome
• Ependymoblastoma
• Medulloepithelioma
• Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
• Desmoplastic Medulloblastoma
• Epidermolytic Palmoplantar Keratoderma Type Vörner
• Ganglioneuroma
• Hypogonadotropic Hypogonadism - Retinitis Pigmentosa 
• Anaplastic Ganglioglioma
• Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
• Ganglioglioma
• Papillary Glioneuronal Tumor
• Hypergonadotropic Hypogonadism - Partial Alopecia
• Dysembryoplastic Neuroepithelial Tumor
• Cerebellar Liponeurocytoma
• Pituicytoma
• Pilomyxoid Astrocytoma
• Pleomorphic Xanthoastrocytoma
• Fibrillary Astrocytoma
• Gemistocytic Astrocytoma
• Diffuse Astrocytoma
• Protoplasmic Astrocytoma
• Hirschsprung Disease - Deafness - Polydactyly Syndrome
• Anaplastic Astrocytoma
• Low-Grade Astrocytoma
• Hirschsprung Disease - Nail Hypoplasia - Dysmorphism
• Giant Cell Glioblastoma
• Hirschsprung Disease Type D-Brachydactyly Syndrome
• Gliomatosis Cerebri
• Gliosarcoma
• Astroblastoma
• Angiocentric Glioma
• Anaplastic Oligoastrocytoma
• Oligoastrocytoma
• Waaler-Aarskog Syndrome
• Ependymoma Grade 3
• Ependymoma Grade 1
• Subependymoma
• Marfanoid Syndrome Type De Silva
• Melhem-Fahl Syndrome
• Becker Nevus Syndrome
• Neurocutaneous Melanocytosis
• Collecting Duct Carcinoma
• Superficial Siderosis of the Central Nervous System
• Lower Limb Deficiency-Hypospadias Syndrome
• Generalized Pustular Psoriasis
• Macrosomia - Microphthalmia - Cleft Palate
• Congenital Disorder of Glycosylation Type 1N
• Split Hand - Split Foot Malformation 5
• Split Hand-Split Foot Malformation 4
• Split Hand-Split Foot Malformation 2
• Supernumerary Nipples
• Common Mesentery
• Ectodermal Dysplasia - Syndactyly Syndrome
• Congenitally Short Costocoracoid Ligament
• Leukonychia Totalis
• Juvenile Huntington Disease
• Peripheral Motor Neuropathy - Dysautonomia Syndrome
• Nasopalpebral Lipoma - Coloboma - Telecanthus Syndrome
• Hypergonadotropic Hypogonadism-Cataract Syndrome
• Lubani-Al Saleh-Teebi Syndrome
• Thickened Earlobes-Conductive Deafness Syndrome
• Citrin Deficiency
• Epidermolysis Bullosa Simplex with Hypodontia
• Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome
• Autosomal Dominant Secondary Polycythemia
• Kaler-Garrity-Stern Syndrome
• Jung-Wolff-Back-Stahl Syndrome
• Kabuki Syndrome
• Keratosis follicularis - Dwarfism - Cerebral Atrophy Syndrome
• Lipoblastoma
• Juvenile Cataract - Microcornea - Renal Glucosuria Syndrome
• MUTYH-Related Attenuated Familial Adenomatous Polyposis
• Kumar-Levick Syndrome
• Femoral Hypoplasia
• Femoral Agenesis - Femoral Hypoplasia
• Cleft Palate - Stapes Fixation - Oligodontia
• Celosomia
• Dystrophic Epidermolysis Bullosa
• Familial Median Cleft of the Upper and Lower Lips
• Jaffe-Campanacci Syndrome
• Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
• FLOTCH Syndrome
• Hereditary Gingival Fibromatosis
• Fibrochondrogenesis
• Gingival Fibromatosis-Progressive Deafness Syndrome
• Gingival Fibromatosis-Hypertrichosis Syndrome
• Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome
• Cole-Carpenter Syndrome
• Foix-Chavany-Marie Syndrome
• Glaucoma - Sleep Apnea
• Gemignani Syndrome
• Paroxysmal Hemicrania
• Trigeminal Autonomic Cephalalgia
• Gastrocutaneous Syndrome
• Sea-blue histiocytosis
• Grant Syndrome
• Hereditary Progressive Mucinous Histiocytosis
• Juvenile Xanthogranuloma
• Xanthoma Disseminatum
• Necrobiotic Xanthogranuloma
• Hypotrichosis - Lymphedema - Telangiectasia with Membranoproliferative Glomerulonephritis
• Benign Cephalic Histiocytosis
• Hip Dysplasia Type Beukes
• Macrophage Activation Syndrome
• 46,XX Sex Reversal Type 1
• Adactyly of Foot
• Brachydactyly of Fingers
• Familial Developmental Dysphasia
• Thoracomelic Dysplasia
• Dyssegmental Dysplasia-Glaucoma Syndrome
• Odontomicronychial Dysplasia
• Multiple Epiphyseal Dysplasia
• Schimke Immunoosseous Dysplasia
• De Hauwere Syndrome
• Ulna Metaphyseal Dysplasia Syndrome
• Hereditary Mucoepithelial Dysplasia
• Skeletal Dysplasia - Epilepsy - Short Stature Syndrome
• Dyssegmental Dysplasia Type Silverman-Handmaker
• Platyspondylic Lethal Skeletal Dysplasia Type San Diego
• X-Linked Cone Dystrophy with Tapetal-Like Sheen
• X-Linked Cone Rod Dystrophy 2
• Retinal Cone Dystrophy Type 1
• Cone Rod Dystrophy Type 9
• Cone Rod Dystrophy Type 12
• Retinal Cone Dystrophy Type 4
• Cone Rod Dystrophy Type 11
• Cone Rod Dystrophy Type 13
• Cone Rod Dystrophy Type 3
• Cone Rod Dystrophy Type 7
• Cone Dystrophy Type 3
• Cone Rod Dystrophy Type 6
• Cone Rod Dystrophy Type 5
• Cone Rod Dystrophy Type 1
• X-Linked Cone Rod Dystrophy Type 1
• X-Linked Atrophic Macular Degeneration
• X-Linked Cone Rod Dystrophy Type 3
• Bullous Dystrophy Type Macular
• Calvarial Doughnut Lesions - Bone Fragility Syndrome
• Bassoe Syndrome
• Hypohidrotic Ectodermal Dysplasia - Hypothyroidism - Ciliary Dyskinesia
• Ectodermal Dysplasia-Sensorineural Deafness Syndrome
• Ectodermal Dysplasia Type Tricho-Odonto-Onychial
• Ectodermal Dysplasia Type Berlin
• Intellectual Disability - Spasticity - Ectrodactyly Syndrome
• Edinburgh Malformation Syndrome
• Ectrodactyly-Cleft Palate Syndrome
• Ectrodactyly-Ectodermal Dysplasia without Clefting Syndrome
• Fetal Cytomegalovirus Syndrome
• Fetal Hydantoin Syndrome
• Minamata Disease
• Eng-Strom Syndrome
• Preaxial Hallucal Polydactyly
• Diabetic Embryopathy
• Primary Erythromelalgia
• Lowry-Wood Syndrome
• Exostoses - Anetodermia - Brachydactyly Type E Syndrome
• Dandy-Walker Malformation - Mental Retardation - Macrocephaly - Myopia - Brachytelephalangy
• Cranio-Osteo-Arthropathy
• Craniodiaphyseal Dysplasia
• Hypertelorism Type Teebi
• Channelopathy
• Coxoauricular Syndrome
• Thin Ribs - Tubular Bones - Dysmorphism Syndrome
• Crane-Heise Syndrome
• Congenital Malformation of the Knee Joint
• Hereditary Sensory and Autonomic Neuropathy
• Primary Intraosseous Vascular Malformation
• X-Linked Partial Corpus Callosum Dysgenesis
• Orofaciodigital Syndrome
• De Sanctis-Cacchione Syndrome
• Cutis Verticis Gyrata-Intellectual Disability Syndrome
• Dacryocystitis-Osteopoikilosis Syndrome
• RHYNS Syndrome
• Primary Central Nervous System Vasculitis
• Linear Atrophoderma of Moulin
• Lelis Syndrome
• Congenital Abducens Nerve Palsy
• Dermo-Odonto Dysplasia
• Intestinal Pseudo-Obstruction - Patent Ductus Arteriosus - Natal Teeth