Genetic and Rare Diseases (GARD) Information Center

About Genetic and Rare Diseases (GARD) Information Center

Related Rare Diseases:

• Perivascular Epithelioid Cell Neoplasm
• PIK3CA-Related Overgrowth Spectrum
• Liddle Syndrome
• Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
• MOG Antibody Disease
• Tracheobronchomalacia
• Congenital Tracheomalacia
• MAPK8IP3-Related Neurodevelopmental Disorder
• Immunotactoid Glomerulopathy 
• Fibrillary Glomerulonephritis 
• Prurigo Nodularis
• Twin Anemia Polycythemia Sequence
• Recurrent Pericarditis
• Shashi-Pena Syndrome
• STXBP1 Disorders
• MEF2C Deficiency
• Pseudoachondroplasia
• MN1 C-Terminal Truncation Syndrome
• GNE Myopathy
• Aromatic L-Amino Acid Decarboxylase Deficiency
• Superficial Siderosis
• Palmoplantar Pustulosis
• Systemic Scleroderma
• Snyder-Robinson Syndrome
• Miller Fisher Syndrome
• Thyroid Eye Disease
• Kearns Sayre Syndrome
• Acute Promyelocytic Leukemia
• Primary Central Nervous System Lymphoma
• Meningioma
• Generalized Arterial Calcification of Infancy
• Autosomal Recessive Hypophosphatemic Rickets Type 2
• SYNGAP1-related NSID
• Necrotizing Enterocolitis
• Renal Medullary Carcinoma
• Complete DiGeorge Syndrome
• Cerebral Folate Deficiency
• Craniopharyngioma
• Glioma
• Spastic Paraplegia 47
• AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP)
• Spastic Paraplegia 52
• Spastic Paraplegia 51
• Spastic Paraplegia 50
• KCNB1 Encephalopathy
• Gestational Trophoblastic Disease
• ADCY5-Related Dyskinesia
• Bohring-Opitz Syndrome
• Deoxyhypusine Synthase Disorder
• Hemiplegic Migraine
• Primary Mitochondrial Myopathies
• Potter Syndrome
• Protein S Deficiency
• Neurotrophic Keratitis
• Primary Distal Renal Tubular Acidosis
• Arginine: Glycine Amidinotransferase Deficiency
• Guanidinoacetate Methyltransferase Deficiency
• Creatine Transporter Deficiency
• Median Arcuate Ligament Syndrome
• SLC6A1 Epileptic Encephalopathy
• Riboflavin Transporter Deficiency
• Kufor Rakeb Syndrome
• Focal Segmental Glomerulosclerosis
• Superior Mesenteric Artery Syndrome
• Dup15q Syndrome
• Cerebral Creatine Deficiency Syndromes
• Pure Autonomic Failure
• Factor X Deficiency
• TANGO2 Deficiency Disorder
• Hereditary Orotic Aciduria
• Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
• Autoinflammation with Infantile Enterocolitis
• Hemophagocytic Lymphohistiocytosis
• Klippel-Trenaunay Syndrome
• Hashimoto Encephalopathy
• Laurence-Moon Syndrome
• Goblet Cell Adenocarcinoma
• Appendiceal Cancer and Tumors
• Fibrolamellar Carcinoma
• Liposarcoma
• Pneumocystis Pneumonia
• Clostridial Myonecrosis
• Pitt-Hopkins Syndrome
• Hepatopulmonary Syndrome
• Tenosynovial Giant Cell Tumor
• Spondylothoracic Dysplasia
• SLC13A5 Citrate Transporter Disorder
• Li-Fraumeni Syndrome
• Sitosterolemia
• Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
• Bosma Arhinia Microphthalmia Syndrome
• Shprintzen Goldberg Syndrome
• CARD9 Deficiency
• Succinic Semialdehyde Dehydrogenase Deficiency
• Hereditary Sensory and Autonomic Neuropathy Type 1E
• Protein C Deficiency
• Warburg Micro Syndrome
• Autoimmune Hepatitis
• KCNK9 Imprinting Syndrome
• Acid Sphingomyelinase Deficiency
• Superior Semicircular Canal Dehiscence
• Febrile Infection-Related Epilepsy Syndrome (FIRES)
• Hallermann-Streiff Syndrome
• Idiopathic Subglottic Stenosis
• Sepiapterin Reductase Deficiency
• Gitelman Syndrome
• Recessive Multiple Epiphyseal Dysplasia
• ATR-16 Syndrome
• NORSE (New Onset Refractory Status Epilepticus) and FIRES (Febrile Infection-Related Epilepsy Syndrome)
• Arterial Tortuosity Syndrome
• Hereditary Neuralgic Amyotrophy
• Hereditary Leiomyomatosis and Renal Cell Carcinoma
• Bile Acid Synthesis Disorders
• Dent Disease
• WHIM Syndrome
• Hepatoerythropoietic Porphyria
• Centronuclear Myopathy
• X-Linked Protoporphyria
• Diffuse Pulmonary Lymphangiomatosis
• Mandibuloacral Dysplasia
• MECP2 Duplication Syndrome
• Nevus Sebaceus Syndrome
• CLOVES Syndrome
• Familial Partial Lipodystrophy
• Congenital Generalized Lipodystrophy
• Factor XI Deficiency
• WNT4 Deficiency
• Factor VII Deficiency
• Acquired Hemophilia
• Acute Eosinophilic Pneumonia
• Ogilvie syndrome
• Chronic Eosinophilic Pneumonia
• Congenital Disorders of Glycosylation
• Familial Isolated Hypoparathyroidism
• Glucose Transporter Type 1 Deficiency Syndrome
• Sudden Unexplained Death in Childhood
• Neonatal Hemochromatosis
• Hyperferritinemia Cataract Syndrome
• Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
• Hailey-Hailey Disease
• Necrotizing Fasciitis
• Gastroparesis
• Anemia of Chronic Disease
• Autosomal Dominant Polycystic Kidney Disease
• Leukocyte Adhesion Deficiency Syndromes
• Dravet Syndrome
• Thoracic Outlet Syndrome
• Cholesteryl Ester Storage Disease
• Wolman Disease
• Segawa Syndrome
• Pontocerebellar Hypoplasia
• Adult-Onset Still’s Disease
• Lymphedema-Distichiasis Syndrome
• Autoimmune Blistering Diseases
• Mesenchymal Chondrosarcoma
• Barakat Syndrome
• Schnitzler Syndrome
• Swyer syndrome
• HTLV Type I and Type II
• Congenital Pulmonary Lymphangiectasia
• Leiomyosarcoma
• X-Linked Myopathy with Excessive Autophagy
• Spinocerebellar Ataxia with Axonal Neuropathy
• Schimke Immuno-Osseous Dysplasia
• Sacrococcygeal Teratoma
• Congenital Muscular Dystrophy
• Birt-Hogg-Dubé Syndrome
• Juvenile Pilocytic Astrocytoma
• Ameloblastic Carcinoma
• Familial Cold Autoinflammatory Syndrome
• Muckle-Wells Syndrome
• Neonatal-Onset Multisystem Inflammatory Disease
• Autosomal Dominant Hyper IgE Syndrome
• Uterine Leiomyosarcoma
• Paraneoplastic Neurologic Syndromes
• PTEN Hamartoma Tumor Syndrome
• Central Diabetes Insipidus
• Cervical Teratoma
• Triosephosphate Isomerase Deficiency
• Oculopharyngeal Muscular Dystrophy
• Asherson’s Syndrome
• Distal Myopathy
• Danon Disease
• Collagen Type VI-Related Disorders
• Fibrosing Mediastinitis
• Progressive Multifocal Leukoencephalopathy
• Levy-Yeboa Syndrome
• Thyroid Cancer
• Melorheostosis
• Tarlov Cysts
• Mevalonate Kinase Deficiency
• Hereditary Hyperphosphatasia
• Alpha Thalassemia X-linked Intellectual Disability Syndrome
• Megalencephaly-Capillary Malformation
• Hemimegalencephaly
• Cerebrotendinous Xanthomatosis
• Human HOXA1 Syndromes
• Organizing Pneumonia
• Refractory Celiac Disease
• Eosinophilic Esophagitis
• Fibromuscular Dysplasia
• Brugada Syndrome
• Maternally Inherited Leigh Syndrome and NARP Syndrome
• Tularemia
• Abetalipoproteinemia
• Ramsay Hunt Syndrome
• Pleuropulmonary Blastoma
• Pachyonychia Congenita
• C3 Glomerulopathy: Dense Deposit Disease and C3 Glomerulonephritis
• Mowat-Wilson Syndrome
• Timothy Syndrome
• Phelan-McDermid Syndrome
• Hereditary Sensory and Autonomic Neuropathy Type IV
• Gastrointestinal Stromal Tumors
• Mesothelioma
• Mal de Debarquement
• Myelodysplastic Syndromes
• Sinonasal Undifferentiated Carcinoma
• Fournier Gangrene
• Stuve-Wiedemann Syndrome
• Spinal Muscular Atrophy
• Atypical Hemolytic Uremic Syndrome
• Primary Orthostatic Tremor
• Lysosomal Storage Disorders
• Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
• Fetal Retinoid Syndrome
• Adenylosuccinate Lyase Deficiency
• Pediatric Cardiomyopathy
• Susac Syndrome
• Pyridoxine-Dependent Epilepsy
• VACTERL with Hydrocephalus
• Cutaneous T-Cell Lymphomas
• West Nile Encephalitis
• Rosai-Dorfman Disease
• Alveolar Soft Part Sarcoma
• Rabson-Mendenhall Syndrome
• Smallpox
• Anthrax
• Barth Syndrome
• Neonatal Lupus
• Mantle Cell Lymphoma
• Turcot Syndrome
• Congenital Fibrosis of the Extraocular Muscles
• Hyperemesis Gravidarum
• Adenoid Cystic Carcinoma
• Desmoid Tumor
• Systemic Capillary Leak Syndrome
• Wiedemann Rautenstrauch Syndrome
• Hyper IgM Syndromes
• Megalocornea Intellectual Disability Syndrome
• Congenital Varicella Syndrome
• Catel Manzke Syndrome
• L1 Syndrome
• Schinzel Syndrome
• Fucosidosis
• Yunis Varon Syndrome
• Ablepharon-Macrostomia Syndrome
• Setleis Syndrome
• Classic Infantile CLN1 Disease
• Johanson-Blizzard Syndrome
• Cytochrome C Oxidase Deficiency
• Acromesomelic Dysplasia
• Urofacial Syndrome
• Cat Eye Syndrome
• Crigler Najjar Syndrome
• Recurrent Respiratory Papillomatosis
• Haim-Munk Syndrome
• Costello Syndrome
• Meleda Disease
• Acromicric Dysplasia
• Mulvihill-Smith Syndrome
• Trichorhinophalangeal Syndrome Type III
• Myhre Syndrome
• Trichorhinophalangeal Syndrome Type II
• Juberg-Marsidi Syndrome
• Scott Craniodigital Syndrome
• PMM2-CDG
• Leri Pleonosteosis
• IRF6-Related Disorders
• Kleine-Levin Syndrome
• Congenital Bilateral Perisylvian Syndrome
• Human Monocytic Ehrlichiosis (HME)
• Sennetsu Fever
• Meier-Gorlin Syndrome
• Laband Syndrome
• Papillon Lefèvre Syndrome
• Oculocerebral Syndrome with Hypopigmentation
• Fountain Syndrome
• Mayer-Rokitansky-Küster-Hauser Syndrome
• Schwartz Jampel Syndrome
• Lenz Microphthalmia Syndrome
• Human Granulocytic Ehrlichiosis (HGE)
• Nance-Horan Syndrome
• Short Chain Acyl CoA Dehydrogenase Deficiency
• Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
• Trisomy 9p (Multiple Variants)
• Weismann Netter Stuhl Syndrome
• Craniofrontonasal Dysplasia
• Orocraniodigital Syndrome
• Monilethrix
• Progressive Osseous Heteroplasia
• Aniridia Cerebellar Ataxia Mental Deficiency
• Björnstad Syndrome
• Galloway-Mowat Syndrome
• Gorlin-Chaudhry-Moss Syndrome
• Mulibrey Nanism
• De Sanctis Cacchione Syndrome
• Kenny-Caffey Syndrome
• Mosaic Trisomy 9
• KBG Syndrome
• Schindler disease
• Twin-Twin Transfusion Syndrome
• Trisomy X
• Hanhart Syndrome
• Sneddon Syndrome
• Adult Polyglucosan Body Disease
• Pycnodysostosis
• Pallister-Hall Syndrome
• Summitt Syndrome
• WAGR Syndrome/11p Deletion Syndrome
• Sakati Syndrome
• Goodman Syndrome
• Wandering Spleen
• Corticobasal Degeneration
• Fetal Valproate Syndrome
• Chromosome 21 Ring
• Hantavirus Pulmonary Syndrome
• Bannayan-Riley-Ruvalcaba Syndrome
• Familial Eosinophilic Cellulitis
• Duodenal Atresia or Stenosis
• Wildervanck Syndrome
• Cutis Marmorata Telangiectatica Congenita
• Mosaic Trisomy 22
• Trimethylaminuria
• Filippi Syndrome
• Ring Chromosome 4
• Kasabach-Merritt Phenomenon
• Degos Disease
• Arachnoid Cysts
• Bardet-Biedl Syndrome
• Kennedy Disease
• Antiphospholipid Syndrome
• Primary Visual Agnosia
• X-Linked Myotubular Myopathy
• Simpson-Golabi-Behmel Syndrome
• Neu Laxova Syndrome
• De Barsy Syndrome
• Rosenberg Chutorian Syndrome
• Hypomelanosis of Ito
• Smith Magenis Syndrome
• Neuroacanthocytosis
• Femoral Facial Syndrome
• Hereditary Multiple Osteochondromas
• Schinzel Giedion Syndrome
• Chromosome 15 Ring
• Walker Warburg Syndrome
• Campomelic Syndrome
• Vogt-Koyanagi-Harada Disease
• Chromosome 18q- Syndrome
• Gerstmann Syndrome
• Diencephalic Syndrome
• MELAS Syndrome
• Cleidocranial Dysplasia
• Fryns Syndrome
• Senior-Løken Syndrome
• West Syndrome
• Chromosome 18 Ring
• Chromosome 14 Ring
• Denys-Drash Syndrome
• Lynch Syndrome
• Chromosome 9 Ring
• Binder Type Nasomaxillary Dysplasia
• Brown Séquard Syndrome
• Chandler’s Syndrome
• Fetal Hydantoin Syndrome
• Bowen Hutterite Syndrome
• Hermansky Pudlak Syndrome
• Fitz Hugh Curtis Syndrome
• Erdheim Chester Disease
• Sprengel Deformity
• Fox Fordyce Disease
• Pentalogy of Cantrell
• SHORT Syndrome
• Winchester Syndrome
• Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
• Floating Harbor Syndrome
• Jackson-Weiss Syndrome
• Primary Craniosynostosis
• Trismus-Pseudocamptodactyly Syndrome
• Esophageal Atresia and/or Tracheoesophageal Fistula
• Chromosome 22 Ring
• Chromosome 6 Ring
• Pachydermoperiostosis
• Focal Dermal Hypoplasia
• Bowenoid Papulosis
• Frontofacionasal Dysplasia
• Gastroschisis
• Fukuyama Type Congenital Muscular Dystrophy
• Kabuki Syndrome
• Cerebellar Agenesis
• Aspartylglycosaminuria
• C Syndrome
• Meningococcemia
• Carnitine Palmitoyltransferase 1A Deficiency
• Phosphoglycerate Kinase Deficiency
• Congenital Contractural Arachnodactyly
• Oculo-Dento-Digital Dysplasia
• Mixed Cryoglobulinemia
• Baller-Gerold Syndrome
• Ameloblastoma
• Paramyotonia Congenita
• Maxillofacial Dysostosis
• Mitochondrial Neurogastrointestinal Encephalopathy
• Limb-Girdle Muscular Dystrophies
• Chronic Inflammatory Demyelinating Polyneuropathy
• Ellis Van Creveld Syndrome
• Aplasia Cutis Congenita
• Pallister W Syndrome
• Caudal Regression Syndrome
• Grover’s Disease
• Dyskeratosis Congenita
• Marden Walker Syndrome
• Jansen Type Metaphyseal Chondrodysplasia
• Weill Marchesani Syndrome
• Nager Syndrome
• Miller Syndrome
• Cyclic Vomiting Syndrome
• Leri-Weill Dyschondrosteosis
• Lennox-Gastaut Syndrome
• Jejunal Atresia
• LADD syndrome
• Keratitis Ichthyosis Deafness Syndrome
• Vitamin D Deficiency Rickets
• Hajdu Cheney Syndrome
• Branchiootorenal Spectrum Disorders
• AEC Syndrome
• Marshall Syndrome
• Otopalatodigital Syndrome Type I and II
• Cardiofaciocutaneous Syndrome
• Achondrogenesis
• PEPCK Deficiency
• Pyruvate Carboxylase Deficiency
• Klüver-Bucy Syndrome
• Alström Syndrome
• Metatropic Dysplasia I
• Hyperostosis Frontalis Interna
• Marinesco-Sjögren Syndrome
• Growth Hormone Deficiency
• Horner’s Syndrome
• Congenital Plasminogen Deficiency
• Epidermal Nevus Syndromes
• Kikuchi’s Disease
• Congenital Hepatic Fibrosis
• Eales Disease
• Chronic Lymphocytic Leukemia
• Severe Chronic Neutropenia
• Autosomal Recessive Hyper IgE Syndrome
• Autoimmune Polyendocrine Syndrome Type II
• Axenfeld-Rieger Syndrome
• Chromosome 22q11.2 Deletion Syndrome
• Jervell and Lange-Nielsen Syndrome
• Asherman’s Syndrome
• Wolfram Syndrome
• Retroperitoneal Fibrosis
• Kallmann Syndrome
• Cone Dystrophy
• Rabies
• Bronchopulmonary Dysplasia
• Partial Androgen Insensitivity Syndrome
• Pseudomyxoma Peritonei
• Congenital Syphilis
• Graft versus Host Disease
• Fibrous Dysplasia
• Börjeson-Forssman-Lehman Syndrome
• Coats Disease
• Psittacosis
• Autoimmune Polyglandular Syndrome Type 1
• Yellow Nail syndrome
• Marcus Gunn Phenomenon
• Gorham-Stout Disease
• Neurasthenia
• Pseudocholinesterase Deficiency
• Polymorphous Low-Grade Adenocarcinoma
• FG Syndrome Type 1
• Diffuse Idiopathic Skeletal Hyperostosis
• Adie Syndrome
• Wieacker Syndrome
• Townes-Brocks Syndrome
• Growth Hormone Insensitivity
• Marshall Smith Syndrome
• Meningitis
• DOORS Syndrome
• Weaver Syndrome
• Hyperekplexia
• Renal Cell Carcinoma
• Eosinophilic Fasciitis
• XYY Syndrome
• Familial Hypercholesterolemia
• Proctitis
• Frontonasal Dysplasia
• Common Variable Immune Deficiency
• Meningococcal Meningitis
• Hypohidrotic Ectodermal Dysplasia
• Giant Axonal Neuropathy
• Kohler Disease
• Hereditary Sensory Neuropathy Type I
• Hereditary Sensory and Autonomic Neuropathy Type II
• X-linked Retinoschisis
• Central Pain Syndrome
• Subacute Cerebellar Degeneration
• Chromosome 4q Deletion
• NF2-Related Schwannomatosis
• Holoprosencephaly
• Penta X Syndrome
• POEMS Syndrome
• Paget’s Disease of the Breast
• Progressive Myoclonus Epilepsy
• Phocomelia Syndrome
• Madelung’s Disease
• Sirenomelia
• Paroxysmal Cold Hemoglobinuria
• Astrocytoma
• Glucose-6-Phosphate Dehydrogenase Deficiency
• Ovotesticular Disorder of Sex Development
• Warm Autoimmune Hemolytic Anemia
• Orthostatic Hypotension
• Trichotillomania
• Apraxia
• Ewing Sarcoma
• Keratomalacia
• Acquired Neuromyotonia
• Erysipelas
• Osteonecrosis
• Kniest Dysplasia
• Infantile Myofibromatosis
• Mucha Habermann Disease
• Cohen Syndrome
• Hyperkalemia
• Glucose-Galactose Malabsorption
• Hypokalemia
• Enterobiasis
• Nocardiosis
• STEC Hemolytic Uremic Syndrome
• Papillitis
• Osteomyelitis
• Mumps
• Ivemark Syndrome
• Fraser Syndrome
• Aspergillosis
• Perniosis
• Craniometaphyseal Dysplasia
• Mallory Weiss Syndrome
• Eosinophilic Gastroenteritis
• Trichorhinophalangeal Syndrome Type I
• Dubin Johnson Syndrome
• Typhoid
• X linked Lymphoproliferative Syndrome
• Hirschsprung Disease
• Parsonage Turner Syndrome
• Simple Pulmonary Eosinophilia
• Infective Endocarditis
• Cold Agglutinin Disease
• Banti’s Syndrome
• Yellow Fever
• Cluster Headache
• Noonan Syndrome with Multiple Lentigines
• Lymphomatoid Granulomatosis
• Pancreatic Neuroendocrine Neoplasms (pNENs)
• Evans Syndrome
• Branchio Oculo Facial Syndrome
• Congenital Fiber Type Disproportion
• Buerger’s Disease
• Amniotic Band Syndrome
• Triploidy
• Microvillus Inclusion Disease
• Pulmonary Arterial Hypertension
• Vasculitis
• Spondylocostal Dysplasia
• Hypoparathyroidism
• Acute Cholecystitis
• Cutaneous Vasculitis
• Greig Cephalopolysyndactyly Syndrome
• Robinow Syndrome
• Chronic Myelogenous Leukemia
• Rothmund-Thomson Syndrome
• Split Hand/Split Foot Malformation
• ESCO2 Spectrum Disorder
• Functional Neurological Disorder
• Elephantiasis
• Mucopolysaccharidoses
• Sydenham Chorea
• Renal Glycosuria
• Chronic Granulomatous Disease
• Nevoid Basal Cell Carcinoma Syndrome
• Opsoclonus-Myoclonus Syndrome
• Formaldehyde Poisoning
• Carcinoid Syndrome
• Porphyrias
• Autosomal Dominant Hereditary Ataxia
• Frontotemporal Degeneration
• Paroxysmal Nocturnal Hemoglobinuria
• Heavy Metal Poisoning
• Dupuytren’s Contracture
• Polyarteritis Nodosa
• Polycystic Liver Disease
• Hepatorenal Syndrome
• Cyclic Neutropenia
• Hodgkin’s Disease
• Meckel Syndrome
• Gianotti Crosti Syndrome
• Klippel-Feil Syndrome
• Ataxia with Vitamin E Deficiency
• Thrombocytopenia Absent Radius Syndrome
• Thrombotic Thrombocytopenic Purpura
• Mucous Membrane Pemphigoid
• Pierre Robin Sequence
• Melnick Needles Syndrome
• Sporadic Inclusion Body Myositis
• Treacher Collins Syndrome
• Lymphatic Malformations
• Primary Lateral Sclerosis
• Wolff Parkinson White Syndrome
• Vascular Malformations of the Brain
• Idiopathic Intracranial Hypertension
• Churg Strauss Syndrome
• Tietze Syndrome
• McKusick Type Metaphyseal Chondrodysplasia
• Empty Sella Syndrome
• Depersonalization Disorder
• Imperforate Anus
• Valinemia
• Congenital Sucrase-Isomaltase Deficiency
• Pseudohypoparathyroidism
• Histidinemia
• Wolf-Hirschhorn Syndrome
• Q fever
• Cavernous Malformation
• Moyamoya Disease
• Aarskog Syndrome
• Binswanger Disease
• Acrodysostosis
• Carpenter Syndrome
• Acute Respiratory Distress Syndrome
• Alpers Disease
• Camurati-Engelmann Disease
• Caroli Disease
• Blue Rubber Bleb Nevus syndrome
• Kienböck Disease
• Menkes Disease
• Primary Biliary Cholangitis
• Listeriosis
• Rocky Mountain Spotted Fever
• Melkersson-Rosenthal Syndrome
• Primary Familial Brain Calcification
• Anencephaly
• Alport Syndrome
• Hypochondroplasia
• Emery Dreifuss Muscular Dystrophy
• Bartter Syndrome
• Wyburn-Mason Syndrome
• IgA Nephropathy
• Fragile X Syndrome
• Medium Chain Acyl CoA Dehydrogenase Deficiency
• Adams-Oliver Syndrome
• Budd Chiari Syndrome
• X-linked Opitz G/BBB Syndrome
• Hyperprolinemia Type I
• Hyperprolinemia Type II
• Proteus Syndrome
• Keratoconus
• Essential Thrombocythemia
• Asphyxiating Thoracic Dystrophy
• Peeling Skin Syndrome
• Dysplasia Epiphysealis Hemimelica
• Pyoderma Gangrenosum
• Norrie Disease
• Nail Patella Syndrome
• Multiple Myeloma
• Mitral Valve Prolapse Syndrome
• Legg Calvé Perthes Disease
• Vernal Keratonconjunctivitis
• Relapsing Polychondritis
• Graves’ Disease
• Ichthyosis
• Keratolytic Winter Erythema
• Erythrokeratodermia with Ataxia
• Erythrokeratoderma
• Sjögren-Larsson Syndrome
• Trichothiodystrophy
• Multiple Sulfatase Deficiency
• Dentinogenesis Imperfecta Type III
• CHARGE Syndrome
• Chanarin-Dorfman Syndrome
• Harlequin Ichthyosis
• Lamellar Ichthyosis
• Ichthyosis Vulgaris
• Keratosis Follicularis Spinulosa Decalvans
• Tooth and Nail Syndrome
• Kugelberg Welander Syndrome
• ASAH1-Related Disorders
• Leber Hereditary Optic Neuropathy
• Pheochromocytoma/Paraganglioma
• Castleman Disease
• Oral-Facial-Digital Syndrome
• Congenital Heart Block
• Usher Syndrome
• Precocious Puberty
• Primary Ciliary Dyskinesia
• Choroideremia
• Aniridia
• Holt Oram Syndrome
• Dentin Dysplasia Type I
• Nonketotic Hyperglycinemia
• AIDS Dysmorphic Syndrome
• Hypophosphatasia
• Retinoschisis
• Dracunculosis
• Dengue Fever
• Waldenström Macroglobulinemia
• Pallister Killian Mosaic Syndrome
• Acrodermatitis Enteropathica
• Tooth Agenesis
• Cerebro Oculo Facio Skeletal Syndrome
• Cerebrocostomandibular Syndrome
• Gordon Syndrome
• Dentin Dysplasia Type II
• Isovaleric Acidemia
• Biotinidase Deficiency
• Pfeiffer Syndrome
• Amelogenesis Imperfecta
• Propionic Acidemia
• Factor XII Deficiency
• Larsen Syndrome
• Optic Nerve Hypoplasia
• Olivopontocerebellar Atrophy
• Posterior Uveitis
• Tardive Dyskinesia
• Seckel Syndrome
• Dercum’s Disease
• Parry Romberg Syndrome
• Peyronie’s disease
• Simian B Virus Infection
• VACTERL Association
• Keratosis Follicularis
• Nelson Syndrome
• ACTH Deficiency
• Diastrophic Dysplasia
• Berylliosis
• Hemophilia B
• Neuromyelitis Optica Spectrum Disorder
• Prune Belly Syndrome
• Epidermolytic Ichthyosis
• Post Polio Syndrome
• Pityriasis Rubra Pilaris
• Familial Lipoprotein Lipase Deficiency
• Primary Hyperoxaluria
• Rheumatic Fever
• Pars Planitis
• Dextrocardia with Situs Inversus
• Pyruvate Kinase Deficiency
• Homocystinuria due to Cystathionine Beta-Synthase Deficiency
• Transverse Myelitis
• Acquired Lipodystrophy
• Mesenteric Panniculitis
• Mycosis Fungoides
• Ocular Albinism
• Granuloma Annulare
• Corneal Dystrophies
• Lissencephaly
• Chronic Intestinal Pseudo-Obstruction
• Moebius Syndrome
• Diamond Blackfan Anemia
• Lymphocytic Infiltrate of Jessner
• Tyrosinemia Type 1
• Arachnoiditis
• Alopecia Areata
• Freeman Sheldon Syndrome
• Mastocytosis
• Poland Syndrome
• Tetrahydrobiopterin Deficiency
• Malaria
• Maffucci Syndrome
• Idiopathic Pulmonary Fibrosis
• Waardenburg Syndrome
• Eisenmenger Syndrome
• Coffin Lowry Syndrome
• Sweet Syndrome
• Stickler Syndrome
• Alpha-Mannosidosis
• Crouzon Syndrome
• Primary Sclerosing Cholangitis
• Familial Hypophosphatemia
• Myalgic Encephalomyelitis
• Rasmussen Encephalitis
• Staphylococcal Scalded Skin Syndrome
• Pyruvate Dehydrogenase Complex Deficiency
• Noonan Syndrome
• Angelman Syndrome
• Lymphangioleiomyomatosis
• Incontinentia Pigmenti
• Langerhans Cell Histiocytosis
• Long QT Syndrome
• Ataxia Telangiectasia
• Henoch-Schönlein Purpura
• Pompe Disease
• Cicatricial Alopecia
• Glycogen Storage Disease Type VI
• Glycogen Storage Disease Type IX
• Tolosa Hunt Syndrome
• Hereditary Spastic Paraplegia
• Glycogen Storage Disease Type 7
• Glycogen Storage Disease Type III
• Glycogen Storage Disease Type V
• Andersen Disease (GSD IV)
• Glycogen Storage Disease Type I
• Leigh Syndrome
• Leptospirosis
• Weil Syndrome
• Leprechaunism
• Tricho Dento Osseous Syndrome
• Tangier Disease
• Cryptococcosis
• Glutaric Aciduria Type I
• Syringobulbia
• Syringomyelia
• Jumping Frenchmen of Maine
• Leukodystrophy
• Glutaric Aciduria Type II
• Russell-Silver Syndrome
• Von Willebrand Disease
• PLA2G6-Associated Neurodegeneration
• Myotonia Congenita
• Shwachman Diamond Syndrome
• Hydranencephaly
• Fascioliasis
• Fibrodysplasia Ossificans Progressiva
• Conradi Hünermann Syndrome
• Dejerine-Sottas Syndrome
• Tuberculosis
• Zollinger-Ellison Syndrome
• Dominant Multiple Epiphyseal Dysplasia
• Hidradenitis Suppurativa
• Myotonic Dystrophy
• Sialadenitis
• Agenesis of Corpus Callosum
• Osteopetrosis
• Candidiasis
• TORCH Syndrome
• Adult Neuronal Ceroid Lipofuscinosis
• Refsum Disease
• Hartnup Disease
• Oculo-Auriculo-Vertebral Spectrum
• Wilms’ Tumor
• Felty Syndrome
• Fetal Alcohol Syndrome
• Tongue Cancer
• Xeroderma Pigmentosum
• Mixed Connective Tissue Disease
• Ollier Disease
• Measles
• Nephrogenic Diabetes Insipidus
• Macroglossia
• Geographic Tongue Disease
• Saethre Chotzen Syndrome
• Stiff Person Syndrome
• Laryngeal Dystonia
• Variegate Porphyria
• Hereditary Coproporphyria
• Erythropoietic Protoporphyria and X-Linked Protoporphyria
• Porphyria Cutanea Tarda
• ALAD Porphyria
• Congenital Erythropoietic Porphyria
• Acute Intermittent Porphyria
• Gilbert Syndrome
• Best Vitelliform Macular Dystrophy
• Macular Degeneration
• N-Acetylglutamate Synthetase Deficiency
• Arginase-1 Deficiency
• Argininosuccinic Aciduria
• Citrullinemia Type 1
• Ornithine Transcarbamylase Deficiency
• Leber Congenital Amaurosis
• Carbamoyl Phosphate Synthetase 1 Deficiency
• Sturge Weber Syndrome
• Mucolipidosis IV
• I Cell Disease
• Pseudo Hurler Polydystrophy
• Sialidosis
• Mucopolysaccharidosis IV
• Williams Syndrome
• Idiopathic Nodular Panniculitis
• Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis
• Spondyloepiphyseal Dysplasia Tarda
• Smith-Lemli-Opitz Syndrome
• Mucopolysaccharidosis Type VII
• Mucopolysaccharidosis Type III
• Retinoblastoma
• Restless Legs Syndrome
• Progressive Supranuclear Palsy
• Hereditary Hemorrhagic Telangiectasia
• Mucopolysaccharidosis Type I
• Maroteaux Lamy Syndrome
• Mucopolysaccharidosis Type II
• Glioblastoma
• Erythema Multiforme
• Goodpasture Syndrome
• Polymyositis and Necrotizing Myopathy
• Rubella
• Dandy Walker Malformation
• Trigeminal Neuralgia
• Sotos Syndrome
• Granulomatosis with Polyangiitis
• Hairy Cell Leukemia
• Toxoplasmosis
• Cogan Reese Syndrome
• Fibromyalgia
• Radiation Sickness
• Dermatomyositis
• Charcot-Marie-Tooth Disease
• Landau Kleffner Syndrome
• Juvenile CLN3 Disease
• Immune Thrombocytopenia
• Chondrocalcinosis 2
• Polymyalgia Rheumatica
• Lesch Nyhan Syndrome
• Apert Syndrome
• Pseudoxanthoma Elasticum
• Lichen Sclerosus
• Erythromelalgia
• Primary Myelofibrosis
• Vitiligo
• Multiple System Atrophy
• Ehlers Danlos Syndromes
• Hereditary Lymphedema
• Autosomal Recessive Polycystic Kidney Disease
• Polycythemia Vera
• Meige Syndrome
• Kernicterus
• Endomyocardial Fibrosis
• Retinopathy of Prematurity
• Lichen Planus
• Sheehan Syndrome
• Autosomal Dominant Tubulo-Interstitial Kidney Disease
• Duane syndrome
• Medullary Sponge Kidney
• Celiac Disease
• Arteriovenous Malformation
• Endocardial Fibroelastosis
• Trisomy 13 Syndrome
• Trisomy 18
• Sarcoidosis
• Cervical Dystonia
• Metachromatic Leukodystrophy
• Arthrogryposis Multiplex Congenita
• Dermatitis Herpetiformis
• Brucellosis
• Antley-Bixler Syndrome
• Sutton Disease II
• Ciguatera Fish Poisoning
• Giant Cell Arteritis
• Neonatal Cholestasis
• Dubowitz Syndrome
• Biliary Atresia
• Congenital Central Hypoventilation Syndrome
• Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex
• Sudden Infant Death Syndrome
• Legionnaires’ Disease
• Pertussis
• Cytomegalovirus Infection
• Kawasaki Disease
• Subacute Sclerosing Panencephalitis
• Complex Regional Pain Syndrome
• McCune Albright Syndrome
• Rett Syndrome
• Von Hippel-Lindau Disease
• Pantothenate Kinase-Associated Neurodegeneration
• Hypoplastic Left Heart Syndrome
• Coffin Siris Syndrome
• Cockayne Syndrome
• Cutis Laxa
• Brown Syndrome
• Barrett Esophagus
• Cysticercosis
• Tetralogy of Fallot
• Ventricular Septal Defects
• Wernicke-Korsakoff Syndrome
• Bernard-Soulier Syndrome
• Blastomycosis
• Bloom Syndrome
• Blue Diaper Syndrome
• Hyperlipoproteinemia Type III
• Carnosinemia
• Chediak Higashi Syndrome
• May Hegglin Anomaly
• Paracoccidioidomycosis
• Pelizaeus-Merzbacher Disease
• Canavan Disease
• Glanzmann Thrombasthenia
• Ahumada-Del Castillo Syndrome
• Cronkhite-Canada Syndrome
• Prolactinoma
• Three M Syndrome
• Peutz Jeghers Syndrome
• Central Core Disease
• Chiari Frommel Syndrome
• Chikungunya
• Cholera
• Ankylosing Spondylitis
• Familial Adenomatous Polyposis
• Colorado Tick Fever
• Essential Tremor
• Congenital Myopathy
• Atrial Septal Defects
• Atrioventricular Septal Defect
• Cor Triatriatum
• Werner Syndrome
• Toxic Shock Syndrome
• Pinta
• Yaws
• Maple Syrup Urine Disease
• Hutchinson-Gilford Progeria Syndrome
• Essential Iris Atrophy
• Gottron Syndrome
• Fiebre mediterránea familiar
• Cushing Syndrome
• Bejel
• Bartonellosis
• Balo Disease
• Balantidiasis
• Babesiosis
• Achalasia
• Filariasis
• Acanthosis Nigricans
• Acanthocheilonemiasis
• Turner Syndrome
• Machado-Joseph Disease
• Lowe syndrome
• Reye Syndrome
• Achard Thiers Syndrome
• Reactive Arthritis
• Froelich Syndrome
• Frey Syndrome
• Antithrombin Deficiency
• Hereditary Angioedema
• Congenital Adrenal Hyperplasia
• Botulism
• Sandhoff Disease
• Niemann Pick Disease Type C
• Primary Intestinal Lymphangiectasia
• Whipple Disease
• Tropical Sprue
• Ulcerative Colitis
• Fanconi Anemia
• Acquired Aplastic Anemia
• Hereditary Nonspherocytic Hemolytic Anemia
• Hereditary Spherocytosis
• Achondroplasia
• Severe Combined Immunodeficiency
• WAS Related Disorders
• Agammaglobulinemia
• Beta Thalassemia
• Scleroderma
• Leprosy
• Factor XIII Deficiency
• Phenylketonuria
• Ectodermal Dysplasias
• Cerebral Palsy
• General Myoclonus
• Cystinuria
• Systemic Primary Carnitine Deficiency
• Amyotrophic Lateral Sclerosis
• Alexander Disease
• Narcolepsy
• Bullous Pemphigoid
• Alpha-1 Antitrypsin Deficiency
• Beckwith-Wiedemann Syndrome
• Acromegaly
• Myasthenia Gravis
• Aicardi Syndrome
• Bell’s Palsy
• Addison’s Disease
• Acoustic Neuroma
• Pemphigus and Pemphigoid
• X-Linked Adrenoleukodystrophy
• Oculocutaneous Albinism
• Status Epilepticus
• Hemophilia A
• Lupus
• Duchenne Muscular Dystrophy
• Werdnig-Hoffmann Disease
• Tuberous Sclerosis
• Creutzfeldt Jakob Disease
• Dystonia
• Cornelia de Lange Syndrome
• Alzheimer’s Disease
• Spina Bifida
• Marfan Syndrome
• Wilson Disease
• Sickle Cell Disease
• Cystic Fibrosis
• Alkaptonuria
• Amyloidosis
• Retinitis Pigmentosa
• Joubert Syndrome
• Cri du Chat Syndrome
• Huntington’s Disease
• Benign Essential Blepharospasm
• Osteogenesis Imperfecta
• Multiple Sclerosis
• Prader-Willi Syndrome
• Classic Hereditary Hemochromatosis
• Gaucher Disease
• Paget’s Disease
• Hydrocephalus
• Tay Sachs Disease
• Malignant Hyperthermia
• Friedreich’s Ataxia
• Sjögren Syndrome
• Neurofibromatosis 1
• Tourette Syndrome
• Epidermolysis Bullosa
• 47, XXY (Klinefelter Syndrome)
• UGDH-Related Disorder
• Visual Snow Syndrome
• Urothelial carcinoma of the renal pelvis and ureter
• NGLY1 Deficiency
• Bachmann-Bupp Syndrome
• LEPR Deficiency
• PCSK1 Deficiency
• POMC Deficiency
• Congenital Leptin Deficiency
• EEF1A2-Related Neurodevelopmental Disorder
• Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation
• Juvenile Ossifying Fibroma
• Osteochondritis Dissecans
• Renal Oncocytoma
• CTNNB1 Syndrome
• Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)
• Food Protein-Induced Enterocolitis Syndrome
• Loeys-Dietz Syndrome
• Epithelioid Hemangioendothelioma
• Obesidad por deficiencia del gen receptor de leptina
• Síndrome de Angelman
• Behçet’s Syndrome
• Síndrome CTNNB1
• ASXL3-Related Disorder
• Síndrome de fosfoinositida 3-quinasa delta activada
• Síndrome de Bardet-Biedl
• Síndrome de Bachmann-Bupp
• Lafora Disease
• Chromosome 9, Partial Monosomy 9p
• Obesidad por deficiencia de pro-opiomelanocortin (POMC)
• Nanismo de Mulibrey
• Síndrome de Melnick-Needles
• Queratosis folicular
• Síndrome de deficiencia del transportador de glucosa tipo 1
• Síndrome fetal por valproato Fetal
• Síndrome de las uñas amarillas
• Síndrome de Marfan
• Hemoglobinuria paroxística nocturna
• Anemia de Fanconi
• Malformación de Dandy Walker
• Fibrosis quística
• Distrofia muscular de Duchenne
• Atrofia muscular espinal
• Hemofilia A
• Síndromes de Ehlers-Danlos
• Síndrome del ojo de gato
• Trastornos congénitos de la glicosilación (2021)
• Fibroma osificante juvenil
• Osteocondritis Disecante
• Neurofibromatosis 1
• Neoplasia de células epitelioides perivasculares
• Síndrome de Hermansky Pudlak
• Síndrome de Sheehan
• Síndrome de Phelan-McDermid
• Síndrome de Pallister-Hall
• Vasculopatía retiniana con leucoencefalopatía cerebral y manifestaciones sistémicas
• Síndrome de Ramsay Hunt
• Fiebre Q
• Trastorno del neurodesarrollo relacionado con EEF1A2
• Encefalopatía epiléptica y del desarrollo asociada al gen SYNGAP1
• Obesidad por deficiencia de prohormona convertasa-I
• Congenital Lactic Acidosis
• Chromosome 11, Partial Monosomy 11q
• Achondroplasia
• Sindrome de Sotos
• Síndrome urofacial
• Síndrome de Behçet
• Acondrogénesis
• Síndrome de Werner
• Eritromelalgia
• Síndrome de la persona rígida
• Abetalipoproteinemia
• Síndrome de alfa talasemia-discapacidad intelectual ligada al cromosoma X
• Enfermedad de Pompe
• Síndrome de Miller Fisher
• Trisomía 9 en mosaico
• Prurigo nodular
• Síndrome de Russell-Silver
• Síndrome de Alport
• Síndrome de Kabuki
• Carcinoma quístico adenoide
• Síndrome de Turner
• Síndrome de Prader-Willi
• Síndrome de la piel escaldada por estafilococos
• Paniculitis Mesentérica
• Deficiencia del factor X
• Trombocitopenia inmune
• Neutropenia Crónica Severa
• Esclerosis tuberosa
• Síndrome de deleción del cromosoma 22q11.2
• Tricotiodistrofia
• Migraña hemipléjica
• Síndrome de Susac
• Trombastenia de Glanzmann
• Papilomatosis Respiratoria Recurrente
• Encefalitis de Rasmussen
• Síndrome de obesidad infantil de rápida progresión-disfunción hipotalámica-hipoventilación-disregulación autonómica
• Schwannomatosis relacionada con NF2
• Pseudohipoparatiroidismo
• Lysosomal Free Sialic Acid Storage Disorders
• Enfermedad de Lafora
• Síndrome de Klippel-Feil
• Deficiencia de Arginasa-1
• Aciduria argininosuccínica
• Botulismo
• Síndrome de Jacobsen (monosomía parcial 11q)
• Displasia cleidocraneal
• Síndrome de Cohen
• Síndrome de dolor regional complejo
• Aracnodactilia congénita contractural
• Síndrome de Crouzon
• Enfermedad de Danon
• Enfermedad de Degos
• Leucodistrofia
• Hemofilia B
• Listeriosis
• Displasia alveolar capilar con desalineación de las venas pulmonares
• Deficiencia de L-arginina:glicina amidinotransferasa
• Ataxia con deficiencia de vitamina E
• Autosomal Recessive Hypophosphatemic Rickets Type 2
• Síndrome de Barakat
• Kleefstra Syndrome
• Mucopolisacaridosis IV
• Froelich Syndrome
• Trastorno del espectro ESCO2
• Síndrome de retinoide fetal
• Gastrosquisis
• Calcificación arterial generalizada de la infancia
• Hipercolesterolemia familiar
• Liposarcoma
• Meningioma
• Enfermedad de Moyamoya
• Síndrome de Birt-Hogg-Dubé
• Síndrome de Senior-Løken
• Síndrome de la regresión caudal
• Agenesia cerebelar
• Enfermedad por almacenamiento de ésteres de colesterol
• Tumor desmoide
• Síndrome diencefálico
• Trisomía 22 en mosaico
• Tumor de Wilms
• Síndrome de dehiscencia del canal semicircular
• Síndrome de Rothmund-Thomson
• Pénfigo y penfigoide
• Enfermedad de Erdheim-Chester
• Enfermedad de Binswanger
• Deficiencia de tetrahidrobiopterina
• Leucemia promielocítica aguda
• Aspergilosis
• Displasia epifisaria hemimélica
• Distrofia muscular congénita tipo Fukuyama
• Trastorno neurológico funcional
• Neumonía organizada
• Diabetes insípida nefrogénica
• Síndrome FG tipo 1
• Síndrome de Stuve-Wiedemann