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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