Rare Diseases Conditions & Treatments
Navigating the world of rare diseases involves understanding a range of conditions and their treatment approaches. Explore our comprehensive guide, which covers various rare disease conditions, prevention strategies, and treatment options. From specialized care to cutting-edge therapies, equip yourself with insights into effective approaches for managing different rare health conditions.
- Aa Amyloidosis
- Aapoaiv Amyloidosis
- Aarskog Syndrome
- Aase-smith Syndrome
- Abeta Amyloidosis, Arctic Type
- Abeta Amyloidosis, Dutch Type
- Abeta Amyloidosis, Iowa Type
- Abeta Amyloidosis, Italian Type
- Abetaa21g Amyloidosis
- Abetal34v Amyloidosis
- Abetalipoproteinemia
- Ablepharon Macrostomia Syndrome
- Ablepharon-macrostomia Syndrome
- Abnormal Number Of Coronary Ostia
- Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
- Abri Amyloidosis
- Abruzzo-erickson Syndrome
- Absence Deformity Of Leg-cataract Syndrome
- Absence Of Fingerprints-congenital Milia Syndrome
- Absence Of Innominate Vein
- Absence Of The Pulmonary Artery
- Absence Of Uterine Body
- Absent Radius-anogenital Anomalies Syndrome
- Absent Thumb-short Stature-immunodeficiency Syndrome
- Absent Tibia-polydactyly-arachnoid Cyst Syndrome
- Acalvaria
- Acanthocheilonemiasis
- Acanthokeratolytic Verrucous Nevus
- Acanthosis Nigricans
- Acanthosis Nigricans-insulin Resistance-muscle Cramps-acral Enlargement Syndrome
- Acatalasemia
- Accessory Mitral Valve Tissue
- Accessory Pancreas
- Accessory Tricuspid Valve Tissue
- Aceruloplasminemia
- Acetazolamide-responsive Myotonia
- Achalasia
- Achalasia Imaging
- Achalasia-microcephaly Syndrome
- Achard Thiers Syndrome
- Acheiria
- Acheiropodia
- Achondrogenesis
- Achondrogenesis Type 1a
- Achondrogenesis Type 1b
- Achondrogenesis Type 2
- Achondroplasia
- Achondroplasia Imaging
- Acid Sphingomyelinase Deficiency
- Acidemia Isovaleric
- Acidemia, Methylmalonic
- Acitretin/etretinate Embryopathy
- Acoustic Neuroma
- Acquired Aneurysmal Subarachnoid Hemorrhage
- Acquired Angioedema Type 1
- Acquired Angioedema Type 2
- Acquired Angioedema With C1inh Deficiency
- Acquired Aplastic Anemia
- Acquired Central Diabetes Insipidus
- Acquired Cutis Laxa
- Acquired Cystic Disease-associated Renal Cell Carcinoma
- Acquired Factor V Deficiency
- Acquired Factor Vii Deficiency
- Acquired Factor X Deficiency
- Acquired Factor Xi Deficiency
- Acquired Factor Xiii Deficiency
- Acquired Generalized Lipodystrophy
- Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
- Acquired Hemophilia
- Acquired Hemophilia A
- Acquired Hemophilia B
- Acquired Hypertrichosis Lanuginosa
- Acquired Ichthyosis
- Acquired Idiopathic Sideroblastic Anemia
- Acquired Kinky Hair Syndrome
- Acquired Lipodystrophy
- Acquired Methemoglobinemia
- Acquired Monoclonal Ig Light Chain-associated Fanconi Syndrome
- Acquired Neuromyotonia
- Acquired Partial Lipodystrophy
- Acquired Porencephaly
- Acquired Prothrombin Deficiency
- Acquired Pseudoxanthoma Elasticum
- Acquired Purpura Fulminans
- Acquired Schizencephaly
- Acquired Von Willebrand Syndrome
- Acral Peeling Skin Syndrome
- Acral Persistent Papular Mucinosis
- Acral Self-healing Collodion Baby
- Acro-renal-mandibular Syndrome
- Acro-renal-ocular Syndrome
- Acrocallosal Syndrome
- Acrocallosal Syndrome, Schinzel Type
- Acrocapitofemoral Dysplasia
- Acrocardiofacial Syndrome
- Acrocephalopolydactyly
- Acrocraniofacial Dysostosis
- Acrodermatitis Continua Of Hallopeau
- Acrodermatitis Enteropathica
- Acrodermatitis Enteropathica (ae) In Ophthalmology
- Acrodysostosis
- Acrodysostosis With Multiple Hormone Resistance
- Acrodysplasia Scoliosis
- Acrofacial Dysostosis, Catania Type
- Acrofacial Dysostosis, Kennedy-teebi Type
- Acrofacial Dysostosis, Palagonia Type
- Acrofacial Dysostosis, Rodríguez Type
- Acrofacial Dysostosis, Weyers Type
- Acrofrontofacionasal Dysostosis
- Acrogeria
- Acrokeratoelastoidosis Of Costa
- Acrokeratosis Verruciformis Of Hopf
- Acromegaly
- Acromelanosis
- Acromelic Frontonasal Dysplasia
- Acromesomelic Dysplasia
- Acromesomelic Dysplasia, Grebe Type
- Acromesomelic Dysplasia, Hunter-thompson Type
- Acromesomelic Dysplasia, Maroteaux Type
- Acromicric Dysplasia
- Acroosteolysis-keloid-like Lesions-premature Aging Syndrome
- Acrootoocular Syndrome
- Acropectoral Syndrome
- Acropectorovertebral Dysplasia
- Acrorenal Syndrome
- Acth Deficiency
- Actinic Lichen Planus
- Actinic Prurigo
- Actinomycosis
- Action Myoclonus-renal Failure Syndrome
- Activated Pi3k-delta Syndrome
- Acute Ackee Fruit Intoxication
- Acute Annular Outer Retinopathy
- Acute Basophilic Leukemia
- Acute Bilirubin Encephalopathy
- Acute Cholecystitis
- Acute Disseminated Encephalomyelitis
- Acute Disseminated Encephalomyelitis With Anti-mog Antibodies
- Acute Disseminated Encephalomyelitis Without Anti-mog Antibodies
- Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
- Acute Endophthalmitis
- Acute Eosinophilic Pneumonia
- Acute Erythroid Leukemia
- Acute Fatty Liver Of Pregnancy
- Acute Febrile Neutrophilic Dermatosis (sweet Syndrome)
- Acute Flaccid Myelitis
- Acute Generalized Exanthematous Pustulosis
- Acute Graft Versus Host Disease
- Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-encoded Proteins
- Acute Infantile Liver Failure-cerebellar Ataxia-peripheral Sensory Motor Neuropathy Syndrome
- Acute Infantile Liver Failure-multisystemic Involvement Syndrome
- Acute Inflammatory Demyelinating Polyradiculoneuropathy
- Acute Intermittent Porphyria
- Acute Interstitial Pneumonia
- Acute Liver Failure
- Acute Lung Injury
- Acute Macular Neuroretinopathy
- Acute Mast Cell Leukemia
- Acute Megakaryoblastic Leukemia
- Acute Megakaryoblastic Leukemia In Down Syndrome
- Acute Megakaryoblastic Leukemia Without Down Syndrome
- Acute Monoblastic/monocytic Leukemia
- Acute Motor And Sensory Axonal Neuropathy
- Acute Motor Axonal Neuropathy
- Acute Myeloblastic Leukemia With Maturation
- Acute Myeloblastic Leukemia Without Maturation
- Acute Myeloid Leukaemia With Myelodysplasia-related Features
- Acute Myeloid Leukemia
- Acute Myeloid Leukemia And Myelodysplastic Syndromes Related To Alkylating Agent
- Acute Myeloid Leukemia And Myelodysplastic Syndromes Related To Radiation
- Acute Myeloid Leukemia And Myelodysplastic Syndromes Related To Topoisomerase Type 2 Inhibitor
- Acute Myeloid Leukemia With 11q23 Abnormalities
- Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) Or T(16;16)(p13;q22)
- Acute Myeloid Leukemia With Cebpa Somatic Mutations
- Acute Myeloid Leukemia With Inv(3)(q21q26.2) Or T(3;3)(q21;q26.2)
- Acute Myeloid Leukemia With Minimal Differentiation
- Acute Myeloid Leukemia With Npm1 Somatic Mutations
- Acute Myeloid Leukemia With T(6;9)(p23;q34)
- Acute Myeloid Leukemia With T(8;16)(p11;p13) Translocation
- Acute Myeloid Leukemia With T(8;21)(q22;q22) Translocation
- Acute Myeloid Leukemia With T(9;11)(p22;q23)
- Acute Myelomonocytic Leukemia
- Acute Necrotizing Encephalopathy Of Childhood
- Acute Neonatal Citrullinemia Type I
- Acute Opioid Poisoning
- Acute Pandysautonomia
- Acute Panmyelosis With Myelofibrosis
- Acute Peripheral Arterial Occlusion
- Acute Poisoning By Drugs With Membrane-stabilizing Effect
- Acute Promyelocytic Leukemia
- Acute Pure Sensory Neuropathy
- Acute Radiation Syndrome
- Acute Respiratory Distress Syndrome
- Acute Reversible Leukoencephalopathy With Increased Urinary Alpha-ketoglutarate
- Acute Sensorineural Hearing Loss By Acute Acoustic Trauma Or Sudden Deafness Or Surgery Induced Acou
- Acute Sensory Ataxic Neuropathy
- Acute Transverse Myelitis
- Acute Transverse Myelitis With Anti-mog Antibodies
- Acute Tricyclic Antidepressant Poisoning
- Acute Undifferentiated Leukemia
- Acute Zonal Occult Outer Retinopathy
- Acyl-coa Dehydrogenase 9 Deficiency
- Acys Amyloidosis
- Adamantinoma
- Adams Oliver Syndrome
- Adan Amyloidosis
- Adcy5-related Dyskinesia
- Addison Disease
- Addisons Disease
- Adducted Thumbs-arthrogryposis Syndrome, Christian Type
- Adenine Phosphoribosyltransferase Deficiency
- Adenocarcinoma Of The Gallbladder And Extrahepatic Biliary Tract
- Adenohypophysitis
- Adenoid Basal Carcinoma Of The Cervix Uteri
- Adenoid Cystic Carcinoma
- Adenoid Cystic Carcinoma Of The Cervix Uteri
- Adenoma Of Pancreas
- Adenosarcoma Of The Cervix Uteri
- Adenosarcoma Of The Corpus Uteri
- Adenosine Monophosphate Deaminase Deficiency
- Adenovirus Infection In Immunocompromised Patients
- Adenylosuccinate Lyase Deficiency
- Adenylosuccinate Synthetase-like 1-related Distal Myopathy
- Adie Syndrome
- Adiposis Dolorosa
- Adnp Syndrome
- Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
- Adrenomyeloneuropathy
- Adrenomyodystrophy
- Adult Acute Respiratory Distress Syndrome
- Adult Familial Nephronophthisis-spastic Quadriparesia Syndrome
- Adult Hepatocellular Carcinoma
- Adult Hypophosphatasia
- Adult Idiopathic Neutropenia
- Adult Intestinal Botulism
- Adult Krabbe Disease
- Adult Neuronal Ceroid Lipofuscinosis
- Adult Onset Stills Disease
- Adult Optic Neuritis
- Adult Polyglucosan Body Disease
- Adult Syndrome
- Adult T-cell Leukemia/lymphoma
- Adult-onset Autosomal Dominant Leukodystrophy
- Adult-onset Autosomal Recessive Cerebellar Ataxia
- Adult-onset Autosomal Recessive Sideroblastic Anemia
- Adult-onset Cervical Dystonia, Dyt23 Type
- Adult-onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
- Adult-onset Citrullinemia Type I
- Adult-onset Distal Myopathy Due To Vcp Mutation
- Adult-onset Dystonia-parkinsonism
- Adult-onset Foveomacular Vitelliform Dystrophy
- Adult-onset Immunodeficiency With Anti-interferon-gamma Autoantibodies
- Adult-onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
- Adult-onset Myasthenia Gravis
- Adult-onset Nemaline Myopathy
- Adult-onset Steinert Myotonic Dystrophy
- Aec Syndrome
- Afib Amyloidosis
- African Iron Overload
- African Tick Typhus
- African Trypanosomiasis
- Agammaglobulinemia
- Agammaglobulinemia-microcephaly-craniosynostosis-severe Dermatitis Syndrome
- Agel Amyloidosis
- Agenesis Of Corpus Callosum
- Agenesis Of The Superior Vena Cava
- Aggressive Nk-cell Leukemia
- Aggressive Systemic Mastocytosis
- Agranulocytosis, Acquired
- Ah Amyloidosis
- Ahdc1-related Intellectual Disability-obstructive Sleep Apnea-mild Dysmorphism Syndrome
- Ahumada-del Castillo Syndrome
- Aica-ribosiduria
- Aicardi Syndrome
- Aids Dysmorphic Syndrome
- Aids Wasting Syndrome
- Akt2-related Familial Partial Lipodystrophy
- Al Amyloidosis
- Ala Dehydratase Deficiency Porphyria
- Alacrimia-choreoathetosis-liver Dysfunction Syndrome
- Alad Porphyria
- Alagille Syndrome
- Alagille Syndrome Due To 20p12 Microdeletion
- Alagille Syndrome Due To A Jag1 Point Mutation
- Alagille Syndrome Due To A Notch2 Point Mutation
- Alar Cartilages Hypoplasia-coloboma-telecanthus Syndrome
- Alazami Syndrome
- Albers-schönberg Osteopetrosis
- Albinism-deafness Syndrome
- Aldh18a1-related De Barsy Syndrome
- Alect2 Amyloidosis
- Alexander Disease
- Alexander Disease Type I
- Alexander Disease Type Ii
- Alg1-cdg
- Alg11-cdg
- Alg12-cdg
- Alg13-cdg
- Alg2-cdg
- Alg3-cdg
- Alg6-cdg
- Alg8-cdg
- Alg9-cdg
- Alk-negative Anaplastic Large Cell Lymphoma
- Alk-positive Anaplastic Large Cell Lymphoma
- Alk-positive Large B-cell Lymphoma
- Alkaline Ceramidase 3 Deficiency
- Alkaptonuria
- Alkaptonuria (black Urine Disease)
- Allan Herndon Syndrome
- Allan-herndon-dudley Mental Retardation
- Allergic Bronchopulmonary Aspergillosis
- Alobar Holoprosencephaly
- Alopecia Antibody Deficiency
- Alopecia Areata
- Alopecia Totalis
- Alopecia Universalis
- Alopecia-contractures-dwarfism-intellectual Disability Syndrome
- Alopecia-epilepsy-pyorrhea-intellectual Disability Syndrome
- Alopecia-intellectual Disability Syndrome
- Alopecia-intellectual Disability-hypergonadotropic Hypogonadism Syndrome
- Alpers Disease
- Alpers-huttenlocher Syndrome
- Alpha Delta Granule Deficiency
- Alpha Thalassemia
- Alpha Thalassemia X-linked Intellectual Disability Syndrome
- Alpha-1 Antitrypsin Deficiency
- Alpha-1-antitrypsin Deficiency
- Alpha-b Crystallin-related Late-onset Myopathy
- Alpha-dystroglycan-related Limb-girdle Muscular Dystrophy R16
- Alpha-heavy Chain Disease
- Alpha-mannosidosis
- Alpha-mannosidosis, Adult Form
- Alpha-mannosidosis, Infantile Form
- Alpha-n-acetylgalactosaminidase Deficiency
- Alpha-n-acetylgalactosaminidase Deficiency Type 1
- Alpha-n-acetylgalactosaminidase Deficiency Type 2
- Alpha-n-acetylgalactosaminidase Deficiency Type 3
- Alpha-thalassemia
- Alpha-thalassemia-intellectual Disability Syndrome Linked To Chromosome 16
- Alpha-thalassemia-myelodysplastic Syndrome
- Alpha-thalassemia-x-linked Intellectual Disability Syndrome
- Alpi-related Inflammatory Bowel Disease
- Alport Syndrome
- Alport Syndrome-intellectual Disability-midface Hypoplasia-elliptocytosis Syndrome
- Alström Syndrome
- Alternating Hemiplegia Of Childhood
- Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
- Alveolar Echinococcosis
- Alveolar Soft Part Sarcoma
- Alveolar Soft Tissue Sarcoma
- Alveolitis, Extrinsic Allergic
- Alys Amyloidosis
- Amaurosis-hypertrichosis Syndrome
- Amelia Of Lower Limb
- Amelia Of Upper Limb
- Amelo-onycho-hypohidrotic Syndrome
- Ameloblastic Carcinoma
- Ameloblastoma
- Amelocerebrohypohidrotic Syndrome
- Amelogenesis Imperfecta
- Aminopterin/methotrexate Embryofetopathy
- Amish Lethal Microcephaly
- Amish Nemaline Myopathy
- Amniotic Band Syndrome
- Amniotic Fluid Embolism
- Amoebiasis Due To Entamoeba Histolytica
- Amoebiasis Due To Free-living Amoebae
- Amoebic Keratitis
- Amyloidosis
- Amyloidosis Cutis Dyschromia
- Amyotrophic Lateral Sclerosis
- Amyotrophic Lateral Sclerosis Type 4
- Anal Fistula
- Anaplastic Astrocytoma
- Anaplastic Ependymoma
- Anaplastic Ganglioglioma
- Anaplastic Large Cell Lymphoma
- Anaplastic Oligoastrocytoma
- Anaplastic Oligodendroglioma
- Anaplastic Thyroid Carcinoma
- Anaplastic/large Cell Medulloblastoma
- Anauxetic Dysplasia
- Andersen Disease (gsd Iv)
- Andersen-tawil Syndrome
- Ane Syndrome
- Anemia Of Chronic Disease
- Anemia, Hemolytic, Acquired Autoimmune
- Anemia, Hemolytic, Cold Antibody
- Anemia, Hereditary Nonspherocytic Hemolytic
- Anemia, Megaloblastic
- Anemia, Pernicious
- Anemias, Sideroblastic
- Anencephaly
- Aneurysm Of Sinus Of Valsalva
- Aneurysm-osteoarthritis Syndrome
- Aneurysmal Bone Cyst
- Angel-shaped Phalango-epiphyseal Dysplasia
- Angelman Syndrome
- Angelman Syndrome Due To A Point Mutation
- Angelman Syndrome Due To Imprinting Defect In 15q11-q13
- Angelman Syndrome Due To Maternal 15q11q13 Deletion
- Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
- Angiocentric Glioma
- Angioimmunoblastic T-cell Lymphoma
- Angiomatoid Fibrous Histiocytoma
- Angioosteohypotrophic Syndrome
- Angiosarcoma
- Angiosarcoma Of The Scalp
- Angiostrongyliasis
- Angora Hair Nevus
- Anhidrotic Ectodermal Dysplasia-immunodeficiency-osteopetrosis-lymphedema Syndrome
- Aniridia
- Aniridia Cerebellar Ataxia Mental Deficiency
- Aniridia-absent Patella Syndrome
- Aniridia-intellectual Disability Syndrome
- Aniridia-ptosis-intellectual Disability-familial Obesity Syndrome
- Aniridia-renal Agenesis-psychomotor Retardation Syndrome
- Anisakiasis
- Ank3-related Intellectual Disability-sleep Disturbance Syndrome
- Ankyloblepharon Filiforme Adnatum-cleft Palate Syndrome
- Ankyloblepharon Filiforme Adnatum-imperforate Anus Syndrome
- Ankyloblepharon-ectodermal Defects-cleft Lip/palate Syndrome
- Ankylosing Vertebral Hyperostosis With Tylosis
- Ankylostomiasis
- Annular Atrophic Lichen Planus
- Annular Epidermolytic Ichthyosis
- Annular Lichen Planus
- Anoctamin-5-related Limb-girdle Muscular Dystrophy R12
- Anodontia
- Anomalous Aortic Origin Of The Left Coronary Artery
- Anomalous Aortic Origin Of The Right Coronary Artery
- Anomalous Origin Of Coronary Artery From The Pulmonary Artery
- Anomaly Of The Mitral Subvalvular Apparatus
- Anonychia Congenita Totalis
- Anonychia With Flexural Pigmentation
- Anonychia-microcephaly Syndrome
- Anonychia-onychodystrophy Syndrome
- Anophthalmia Plus Syndrome
- Anophthalmia-megalocornea-cardiopathy-skeletal Anomalies Syndrome
- Anophthalmia/microphthalmia-esophageal Atresia Syndrome
- Antecubital Pterygium Syndrome
- Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
- Anterior Cutaneous Nerve Entrapment Syndrome
- Anterior Maxillary Protrusion-strabismus-intellectual Disability Syndrome
- Anthrax
- Anti-glomerular Basement Membrane Disease
- Anti-hla Hyperimmunization
- Anti-p200 Pemphigoid
- Antiphospholipid Syndrome
- Antisynthetase Syndrome
- Antithrombin Deficiency
- Antley-bixler Syndrome
- Antley-bixler Syndrome With Genital Anomaly And Disorder Of Steroidogenesis
- Antley-bixler Syndrome Without Genital Anomaly Or Disorder Of Steroidogenesis
- Aortic Arch Anomaly-facial Dysmorphism-intellectual Disability Syndrome
- Aortic Arch Interruption
- Aorto-left Ventricular Tunnel
- Aorto-right Ventricular Tunnel
- Aorto-ventricular Tunnel
- Ap-4-associated Hereditary Spastic Paraplegia (ap-4-hsp)
- Apc-related Attenuated Familial Adenomatous Polyposis
- Apert Syndrome
- Aphalangy-hemivertebrae-urogenital-intestinal Dysgenesis Syndrome
- Aphalangy-syndactyly-microcephaly Syndrome
- Aphonia-deafness-retinal Dystrophy-bifid Halluces-intellectual Disability Syndrome
- Aplasia Cutis Congenita
- Aplasia Cutis Congenita-intestinal Lymphangiectasia Syndrome
- Aplasia Cutis-myopia Syndrome
- Aplasia Of Lacrimal And Salivary Glands
- Aplastic Anemia
- Aplastic Anemia-intellectual Disability-dwarfism Syndrome
- Apnea Of Prematurity
- Apnea, Infantile
- Apodia
- Apolipoprotein A-i Deficiency
- Apparent Mineralocorticoid Excess
- Appendiceal Cancer And Tumors
- Apraxia
- Aprosencephaly
- Aprosencephaly Cerebellar Dysgenesis
- Aprosencephaly/atelencephaly Spectrum
- Aquagenic Palmoplantar Keratoderma
- Arachnodactyly-abnormal Ossification-intellectual Disability Syndrome
- Arachnodactyly-intellectual Disability-dysmorphism Syndrome
- Arachnoid Cyst
- Arachnoid Cysts
- Arachnoiditis
- Aredyld Syndrome
- Aregenerative Anemia
- Argentine Hemorrhagic Fever
- Arginase-1 Deficiency
- Argininemia
- Argininie: Glycine Amidinotransferase Deficiency
- Argininosuccinic Aciduria
- Argyria
- Arnold-chiari Malformation Type I
- Arnold-chiari Malformation Type Ii
- Aromatase Deficiency
- Aromatase Excess Syndrome
- Aromatic L-amino Acid Decarboxylase Deficiency
- Arrhinia-choanal Atresia-microphthalmia Syndrome
- Arterial Dissection-lentiginosis Syndrome
- Arterial Thoracic Outlet Syndrome
- Arterial Tortuosity Syndrome
- Arteriovenous Malformation
- Arteritis, Takayasu
- Arthritis, Infectious
- Arthritis, Psoriatic
- Arthrochalasia Ehlers-danlos Syndrome
- Arthrogryposis Multiplex Congenita
- Arthrogryposis Multiplex Congenita-whistling Face Syndrome
- Arthrogryposis-anterior Horn Cell Disease Syndrome
- Arthrogryposis-ectodermal Dysplasia Syndrome
- Arthrogryposis-hyperkeratosis Syndrome, Lethal Form
- Arthrogryposis-like Hand Anomaly-sensorineural Deafness Syndrome
- Arthrogryposis-oculomotor Limitation-electroretinal Anomalies Syndrome
- Arthrogryposis-renal Dysfunction-cholestasis Syndrome
- Arthrogryposis-severe Scoliosis Syndrome
- Asah1-related Disorders
- Asbestos Intoxication
- Ascher Syndrome
- Asherman Syndrome
- Ashermans Syndrome
- Ashersons Syndrome
- Aspartylglucosaminuria
- Aspartylglycosaminuria
- Aspergillosis
- Asphyxiating Thoracic Dystrophy
- Asphyxiating Thoracic Dystrophy (jeune Syndrome)
- Astley-kendall Dysplasia
- Astroblastoma
- Astrocytoma
- Ataxia Telangiectasia
- Ataxia With Vitamin E Deficiency
- Ataxia-deafness-intellectual Disability Syndrome
- Ataxia-hypogonadism-choroidal Dystrophy Syndrome
- Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome
- Ataxia-oculomotor Apraxia Type 1
- Ataxia-oculomotor Apraxia Type 4
- Ataxia-pancytopenia Syndrome
- Ataxia-photosensitivity-short Stature Syndrome
- Ataxia-tapetoretinal Degeneration Syndrome
- Ataxia-telangiectasia Variant
- Ataxia-telangiectasia-like Disorder
- Atelencephaly
- Atelosteogenesis Type I
- Atelosteogenesis Type Ii
- Atelosteogenesis Type Iii
- Athabaskan Brainstem Dysgenesis Syndrome
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy Syndrome
- Athyreosis
- Atkin-flaitz Syndrome
- Atopic Keratoconjunctivitis
- Atp13a2-related Juvenile Neuronal Ceroid Lipofuscinosis
- Atr-16 Syndrome
- Atransferrinemia
- Atresia Of Urethra
- Atrial Septal Aneurysm
- Atrial Septal Defect, Coronary Sinus Type
- Atrial Septal Defect, Ostium Primum Type
- Atrial Septal Defect, Ostium Secundum Type
- Atrial Septal Defect, Sinus Venosus Type
- Atrial Septal Defect-atrioventricular Conduction Defects Syndrome
- Atrial Septal Defects
- Atrial Standstill
- Atrichia With Papular Lesions
- Atrioventricular Defect-blepharophimosis-radial And Anal Defect Syndrome
- Atrioventricular Septal Defect
- Atrophic Lichen Planus
- Atrophoderma Vermiculata
- Attenuated Chédiak-higashi Syndrome
- Attrv122i Amyloidosis
- Attrv30m Amyloidosis
- Atypical Autism
- Atypical Chronic Myeloid Leukemia
- Atypical Coarctation Of Aorta
- Atypical Dentin Dysplasia Due To Smoc2 Deficiency
- Atypical Fanconi Syndrome-neonatal Hyperinsulinism Syndrome
- Atypical Gaucher Disease Due To Saposin C Deficiency
- Atypical Glycine Encephalopathy
- Atypical Hemolytic Uremic Syndrome
- Atypical Hemolytic Uremic Syndrome With Anti-factor H Antibodies
- Atypical Hypotonia-cystinuria Syndrome
- Atypical Juvenile Parkinsonism
- Atypical Lichen Myxedematosus
- Atypical Meigs Syndrome
- Atypical Norrie Disease Due To Xp11.3 Microdeletion
- Atypical Pantothenate Kinase-associated Neurodegeneration
- Atypical Papilloma Of Choroid Plexus
- Atypical Progressive Supranuclear Palsy Syndrome
- Atypical Teratoid Rhabdoid Tumor
- Atypical Timothy Syndrome
- Atypical Werner Syndrome
- Audiogenic Seizures
- Auditory Neuropathy-optic Atrophy Syndrome
- Auricular Abnormalities-cleft Lip With Or Without Cleft Palate-ocular Abnormalities Syndrome
- Auriculocondylar Syndrome
- Auriculoosteodysplasia
- Autism Spectrum Disorder Due To Auts2 Deficiency
- Autism Spectrum Disorder-epilepsy-arthrogryposis Syndrome
- Autism-epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency
- Autism-facial Port-wine Stain Syndrome
- Auto Immune Encephalitis
- Autoerythrocyte Sensitization Syndrome
- Autoimmune Blistering Diseases
- Autoimmune Encephalopathy With Parasomnia And Obstructive Sleep Apnea
- Autoimmune Enteropathy And Endocrinopathy-susceptibility To Chronic Infections Syndrome
- Autoimmune Hemolytic Anemia, Warm Type
- Autoimmune Hepatitis
- Autoimmune Hepatitis Type 1
- Autoimmune Hepatitis Type 2
- Autoimmune Hypoparathyroidism
- Autoimmune Interstitial Lung Disease-arthritis Syndrome
- Autoimmune Limbic Encephalitis
- Autoimmune Lymphoproliferative Syndrome
- Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
- Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections
- Autoimmune Pancreatitis Type 1
- Autoimmune Pancreatitis Type 2
- Autoimmune Polyendocrine Syndrome Type Ii
- Autoimmune Polyendocrinopathy Type 2
- Autoimmune Polyendocrinopathy Type 3
- Autoimmune Polyendocrinopathy Type 4
- Autoimmune Polyglandular Syndrome Type 1
- Autoimmune Pulmonary Alveolar Proteinosis
- Autoinflammation With Infantile Enterocolitis
- Autoinflammation-plcg2-associated Antibody Deficiency-immune Dysregulation
- Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis
- Autosomal Dominant Adult-onset Proximal Spinal Muscular Atrophy
- Autosomal Dominant Alport Syndrome
- Autosomal Dominant Aplasia And Myelodysplasia
- Autosomal Dominant Brachyolmia
- Autosomal Dominant Centronuclear Myopathy
- Autosomal Dominant Cerebellar Ataxia-deafness-narcolepsy Syndrome
- Autosomal Dominant Charcot-marie-tooth Disease Type 2 Due To Dgat2 Mutation
- Autosomal Dominant Charcot-marie-tooth Disease Type 2 Due To Kif5a Mutation
- Autosomal Dominant Charcot-marie-tooth Disease Type 2 Due To Tfg Mutation
- Autosomal Dominant Charcot-marie-tooth Disease Type 2 With Giant Axons
- Autosomal Dominant Charcot-marie-tooth Disease Type 2a1
- Autosomal Dominant Charcot-marie-tooth Disease Type 2a2
- Autosomal Dominant Charcot-marie-tooth Disease Type 2b
- Autosomal Dominant Charcot-marie-tooth Disease Type 2c
- Autosomal Dominant Charcot-marie-tooth Disease Type 2d
- Autosomal Dominant Charcot-marie-tooth Disease Type 2dd
- Autosomal Dominant Charcot-marie-tooth Disease Type 2e
- Autosomal Dominant Charcot-marie-tooth Disease Type 2f
- Autosomal Dominant Charcot-marie-tooth Disease Type 2g
- Autosomal Dominant Charcot-marie-tooth Disease Type 2i
- Autosomal Dominant Charcot-marie-tooth Disease Type 2j
- Autosomal Dominant Charcot-marie-tooth Disease Type 2k
- Autosomal Dominant Charcot-marie-tooth Disease Type 2l
- Autosomal Dominant Charcot-marie-tooth Disease Type 2m
- Autosomal Dominant Charcot-marie-tooth Disease Type 2n
- Autosomal Dominant Charcot-marie-tooth Disease Type 2o
- Autosomal Dominant Charcot-marie-tooth Disease Type 2q
- Autosomal Dominant Charcot-marie-tooth Disease Type 2u
- Autosomal Dominant Charcot-marie-tooth Disease Type 2v
- Autosomal Dominant Charcot-marie-tooth Disease Type 2w
- Autosomal Dominant Charcot-marie-tooth Disease Type 2y
- Autosomal Dominant Charcot-marie-tooth Disease Type 2z
- Autosomal Dominant Coarctation Of Aorta
- Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
- Autosomal Dominant Cutis Laxa
- Autosomal Dominant Deafness-onychodystrophy Syndrome
- Autosomal Dominant Distal Axonal Motor Neuropathy-myofibrillar Myopathy Syndrome
- Autosomal Dominant Distal Renal Tubular Acidosis
- Autosomal Dominant Dopa-responsive Dystonia
- Autosomal Dominant Emery-dreifuss Muscular Dystrophy
- Autosomal Dominant Epidermolytic Ichthyosis
- Autosomal Dominant Epilepsy With Auditory Features
- Autosomal Dominant Focal Dystonia, Dyt25 Type
- Autosomal Dominant Focal Non-epidermolytic Palmoplantar Keratoderma With Plantar Blistering
- Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
- Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
- Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
- Autosomal Dominant Hereditary Ataxia
- Autosomal Dominant Hyper Ige Syndrome
- Autosomal Dominant Hyper-ige Syndrome
- Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
- Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
- Autosomal Dominant Hypocalcemia
- Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
- Autosomal Dominant Hypophosphatemic Rickets
- Autosomal Dominant Intellectual Disability-craniofacial Anomalies-cardiac Defects Syndrome
- Autosomal Dominant Intermediate Charcot-marie-tooth Disease Type A
- Autosomal Dominant Intermediate Charcot-marie-tooth Disease Type B
- Autosomal Dominant Intermediate Charcot-marie-tooth Disease Type C
- Autosomal Dominant Intermediate Charcot-marie-tooth Disease Type D
- Autosomal Dominant Intermediate Charcot-marie-tooth Disease Type E
- Autosomal Dominant Intermediate Charcot-marie-tooth Disease Type F
- Autosomal Dominant Intermediate Charcot-marie-tooth Disease With Neuropathic Pain
- Autosomal Dominant Kenny-caffey Syndrome
- Autosomal Dominant Keratitis
- Autosomal Dominant Limb-girdle Muscular Dystrophy Type 1a
- Autosomal Dominant Limb-girdle Muscular Dystrophy Type 1h
- Autosomal Dominant Macrothrombocytopenia
- Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
- Autosomal Dominant Multiple Pterygium Syndrome
- Autosomal Dominant Myoglobinuria
- Autosomal Dominant Myopia-midfacial Retrusion-sensorineural Hearing Loss-rhizomelic Dysplasia Syndro
- Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy
- Autosomal Dominant Omodysplasia
- Autosomal Dominant Optic Atrophy And Cataract
- Autosomal Dominant Optic Atrophy And Peripheral Neuropathy
- Autosomal Dominant Optic Atrophy Plus Syndrome
- Autosomal Dominant Optic Atrophy, Classic Form
- Autosomal Dominant Osteopetrosis Type 1
- Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
- Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
- Autosomal Dominant Polycystic Kidney Disease
- Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis
- Autosomal Dominant Popliteal Pterygium Syndrome
- Autosomal Dominant Porencephaly Type I
- Autosomal Dominant Preaxial Polydactyly-upperback Hypertrichosis Syndrome
- Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria
- Autosomal Dominant Prognathism
- Autosomal Dominant Progressive Nephropathy With Hypertension
- Autosomal Dominant Proximal Renal Tubular Acidosis
- Autosomal Dominant Rhegmatogenous Retinal Detachment
- Autosomal Dominant Robinow Syndrome
- Autosomal Dominant Secondary Polycythemia
- Autosomal Dominant Severe Congenital Neutropenia
- Autosomal Dominant Slowed Nerve Conduction Velocity
- Autosomal Dominant Spastic Ataxia Type 1
- Autosomal Dominant Spastic Paraplegia Type 10
- Autosomal Dominant Spastic Paraplegia Type 12
- Autosomal Dominant Spastic Paraplegia Type 13
- Autosomal Dominant Spastic Paraplegia Type 17
- Autosomal Dominant Spastic Paraplegia Type 19
- Autosomal Dominant Spastic Paraplegia Type 29
- Autosomal Dominant Spastic Paraplegia Type 3
- Autosomal Dominant Spastic Paraplegia Type 31
- Autosomal Dominant Spastic Paraplegia Type 36
- Autosomal Dominant Spastic Paraplegia Type 37
- Autosomal Dominant Spastic Paraplegia Type 38
- Autosomal Dominant Spastic Paraplegia Type 4
- Autosomal Dominant Spastic Paraplegia Type 41
- Autosomal Dominant Spastic Paraplegia Type 42
- Autosomal Dominant Spastic Paraplegia Type 6
- Autosomal Dominant Spastic Paraplegia Type 73
- Autosomal Dominant Spastic Paraplegia Type 8
- Autosomal Dominant Spastic Paraplegia Type 9a
- Autosomal Dominant Spastic Paraplegia Type 9b
- Autosomal Dominant Spondylocostal Dysostosis
- Autosomal Dominant Striatal Neurodegeneration
- Autosomal Dominant Thrombocytopenia With Platelet Secretion Defect
- Autosomal Dominant Tubulo-interstitial Kidney Disease
- Autosomal Dominant Tubulointerstitial Kidney Disease
- Autosomal Dominant Vitreoretinochoroidopathy
- Autosomal Recessive Alport Syndrome
- Autosomal Recessive Amelia
- Autosomal Recessive Anterior Segment Dysgenesis
- Autosomal Recessive Ataxia Due To Pex10 Deficiency
- Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
- Autosomal Recessive Ataxia, Beauce Type
- Autosomal Recessive Axonal Charcot-marie-tooth Disease Due To Copper Metabolism Defect
- Autosomal Recessive Axonal Neuropathy With Neuromyotonia
- Autosomal Recessive Bestrophinopathy
- Autosomal Recessive Brachyolmia
- Autosomal Recessive Centronuclear Myopathy
- Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency
- Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
- Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity
- Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Rubcn Deficie
- Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Tud Deficienc
- Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due To Wwox Deficien
- Autosomal Recessive Cerebellar Ataxia-movement Disorder Syndrome
- Autosomal Recessive Cerebellar Ataxia-psychomotor Delay Syndrome
- Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome
- Autosomal Recessive Cerebral Atrophy
- Autosomal Recessive Charcot-marie-tooth Disease Type 2x
- Autosomal Recessive Charcot-marie-tooth Disease With Hoarseness
- Autosomal Recessive Chorioretinopathy-microcephaly Syndrome
- Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
- Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
- Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
- Autosomal Recessive Cutis Laxa Type 1
- Autosomal Recessive Cutis Laxa Type 2, Classic Type
- Autosomal Recessive Cutis Laxa Type 2a
- Autosomal Recessive Cutis Laxa Type 2b
- Autosomal Recessive Distal Osteolysis Syndrome
- Autosomal Recessive Distal Renal Tubular Acidosis
- Autosomal Recessive Dopa-responsive Dystonia
- Autosomal Recessive Emery-dreifuss Muscular Dystrophy
- Autosomal Recessive Epidermolytic Ichthyosis
- Autosomal Recessive Extra-oral Halitosis
- Autosomal Recessive Faciodigitogenital Syndrome
- Autosomal Recessive Frontotemporal Pachygyria
- Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
- Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
- Autosomal Recessive Hyper Ige Syndrome
- Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
- Autosomal Recessive Hyperinsulinism Due To Sur1 Deficiency
- Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
- Autosomal Recessive Hypophosphatemic Rickets
- Autosomal Recessive Hypophosphatemic Rickets Type 2
- Autosomal Recessive Infantile Hypercalcemia
- Autosomal Recessive Intermediate Charcot-marie-tooth Disease Type A
- Autosomal Recessive Intermediate Charcot-marie-tooth Disease Type B
- Autosomal Recessive Intermediate Charcot-marie-tooth Disease Type C
- Autosomal Recessive Intermediate Charcot-marie-tooth Disease Type D
- Autosomal Recessive Isolated Optic Atrophy
- Autosomal Recessive Kenny-caffey Syndrome
- Autosomal Recessive Lethal Neonatal Axonal Sensorimotor Polyneuropathy
- Autosomal Recessive Leukoencephalopathy-ischemic Stroke-retinitis Pigmentosa Syndrome
- Autosomal Recessive Lower Motor Neuron Disease With Childhood Onset
- Autosomal Recessive Malignant Osteopetrosis
- Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Rorgamma Rece
- Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Jak1 Deficienc
- Autosomal Recessive Multiple Pterygium Syndrome
- Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
- Autosomal Recessive Nail Dysplasia
- Autosomal Recessive Omodysplasia
- Autosomal Recessive Optic Atrophy, Opa7 Type
- Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
- Autosomal Recessive Polycystic Kidney Disease
- Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxi
- Autosomal Recessive Progressive External Ophthalmoplegia
- Autosomal Recessive Proximal Renal Tubular Acidosis
- Autosomal Recessive Robinow Syndrome
- Autosomal Recessive Secondary Polycythemia Not Associated With Vhl Gene
- Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency
- Autosomal Recessive Severe Congenital Neutropenia Due To Cxcr2 Deficiency
- Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency
- Autosomal Recessive Severe Congenital Neutropenia Due To Jagn1 Deficiency
- Autosomal Recessive Sideroblastic Anemia
- Autosomal Recessive Spastic Ataxia Of Charlevoix-saguenay
- Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
- Autosomal Recessive Spastic Ataxia-optic Atrophy-dysarthria Syndrome
- Autosomal Recessive Spastic Paraplegia Type 11
- Autosomal Recessive Spastic Paraplegia Type 14
- Autosomal Recessive Spastic Paraplegia Type 15
- Autosomal Recessive Spastic Paraplegia Type 18
- Autosomal Recessive Spastic Paraplegia Type 20
- Autosomal Recessive Spastic Paraplegia Type 21
- Autosomal Recessive Spastic Paraplegia Type 23
- Autosomal Recessive Spastic Paraplegia Type 24
- Autosomal Recessive Spastic Paraplegia Type 25
- Autosomal Recessive Spastic Paraplegia Type 26
- Autosomal Recessive Spastic Paraplegia Type 27
- Autosomal Recessive Spastic Paraplegia Type 28
- Autosomal Recessive Spastic Paraplegia Type 32
- Autosomal Recessive Spastic Paraplegia Type 35
- Autosomal Recessive Spastic Paraplegia Type 39
- Autosomal Recessive Spastic Paraplegia Type 43
- Autosomal Recessive Spastic Paraplegia Type 44
- Autosomal Recessive Spastic Paraplegia Type 45
- Autosomal Recessive Spastic Paraplegia Type 46
- Autosomal Recessive Spastic Paraplegia Type 48
- Autosomal Recessive Spastic Paraplegia Type 53
- Autosomal Recessive Spastic Paraplegia Type 54
- Autosomal Recessive Spastic Paraplegia Type 55
- Autosomal Recessive Spastic Paraplegia Type 56
- Autosomal Recessive Spastic Paraplegia Type 57
- Autosomal Recessive Spastic Paraplegia Type 59
- Autosomal Recessive Spastic Paraplegia Type 5a
- Autosomal Recessive Spastic Paraplegia Type 60
- Autosomal Recessive Spastic Paraplegia Type 61
- Autosomal Recessive Spastic Paraplegia Type 62
- Autosomal Recessive Spastic Paraplegia Type 63
- Autosomal Recessive Spastic Paraplegia Type 64
- Autosomal Recessive Spastic Paraplegia Type 66
- Autosomal Recessive Spastic Paraplegia Type 67
- Autosomal Recessive Spastic Paraplegia Type 69
- Autosomal Recessive Spastic Paraplegia Type 70
- Autosomal Recessive Spastic Paraplegia Type 71
- Autosomal Recessive Spastic Paraplegia Type 74
- Autosomal Recessive Spastic Paraplegia Type 75
- Autosomal Recessive Spastic Paraplegia Type 76
- Autosomal Recessive Spastic Paraplegia Type 77
- Autosomal Recessive Spastic Paraplegia Type 78
- Autosomal Recessive Spastic Paraplegia Type 9b
- Autosomal Recessive Spinocerebellar Ataxia-blindness-deafness Syndrome
- Autosomal Recessive Spondylometaphyseal Dysplasia, Mégarbané Type
- Autosomal Recessive Stickler Syndrome
- Autosomal Semi-dominant Severe Lipodystrophic Laminopathy
- Autosomal Spastic Paraplegia Type 30
- Autosomal Spastic Paraplegia Type 58
- Autosomal Spastic Paraplegia Type 72
- Autosomal Systemic Lupus Erythematosus
- Autosomal Thrombocytopenia With Normal Platelets
- Avian Influenza
- Axenfeld Anomaly
- Axenfeld-rieger Syndrome
- Axial Mesodermal Dysplasia Spectrum
- Axial Spondylometaphyseal Dysplasia
- Axin2-related Attenuated Familial Adenomatous Polyposis
- Axonal Polyneuropathy Associated With Igg/igm/iga Monoclonal Gammopathy
- Aymé-gripp Syndrome
- Azygos Continuation Of The Inferior Vena Cava
View All
- B-cell Immunodeficiency-limb Anomaly-urogenital Malformation Syndrome
- B-cell Prolymphocytic Leukemia
- B-lymphoblastic Leukemia/lymphoma With Hyperdiploidy
- B-lymphoblastic Leukemia/lymphoma With Hypodiploidy
- B-lymphoblastic Leukemia/lymphoma With Recurrent Genetic Abnormality
- B-lymphoblastic Leukemia/lymphoma With T(12;21)(p13.2;q22.1)
- B-lymphoblastic Leukemia/lymphoma With T(1;19)(q23;p13.3)
- B-lymphoblastic Leukemia/lymphoma With T(5;14)(q31.1;q32.3)
- B-lymphoblastic Leukemia/lymphoma With T(9;22)(q34.1;q11.2)
- B-lymphoblastic Leukemia/lymphoma With T(v;11q23.3)
- B3galt6-related Spondylodysplastic Ehlers-danlos Syndrome
- B4galt1-cdg
- B4galt7-related Spondylodysplastic Ehlers-danlos Syndrome
- Babesiosis
- Babinski-froelich Syndrome
- Bacterial Myositis
- Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
- Bacterial Toxic-shock Syndrome
- Bainbridge-ropers Syndrome
- Balantidiasis
- Balint Syndrome
- Baller-gerold Syndrome
- Baló Concentric Sclerosis
- Balo Disease
- Bamforth-lazarus Syndrome
- Bangstad Syndrome
- Banki Syndrome
- Bannayan-riley-ruvalcaba Syndrome
- Bantis Syndrome
- Bap1-related Tumor Predisposition Syndrome
- Baraitser-winter Cerebrofrontofacial Syndrome
- Barakat Syndrome
- Bardet-biedl Syndrome
- Baroreflex Failure
- Barth Syndrome
- Bartonellosis
- Bartsocas-papas Syndrome
- Bartter Syndrome
- Bartter Syndrome Type 1
- Bartter Syndrome Type 2
- Bartter Syndrome Type 3
- Bartter Syndrome Type 4
- Bartter Syndrome Type 5
- Basal Encephalocele
- Basel-vanagaite-smirin-yosef Syndrome
- Bathing Suit Ichthyosis
- Bazex Syndrome
- Bazex-dupré-christol Syndrome
- Bean Syndrome
- Becker Nevus Syndrome
- Beckwith-wiedemann Syndrome
- Beckwith-wiedemann Syndrome Due To 11p15 Microdeletion
- Beckwith-wiedemann Syndrome Due To 11p15 Microduplication
- Beckwith-wiedemann Syndrome Due To 11p15 Translocation/inversion
- Beckwith-wiedemann Syndrome Due To Cdkn1c Mutation
- Beckwith-wiedemann Syndrome Due To Imprinting Defect Of 11p15
- Beckwith-wiedemann Syndrome Due To Nsd1 Mutation
- Beckwith-wiedemann Syndrome Due To Paternal Uniparental Disomy Of Chromosome 11
- Beemer-ertbruggen Syndrome
- Behçets Syndrome
- Bejel
- Bells Palsy
- Bencze Syndrome
- Benign Cephalic Histiocytosis
- Benign Childhood Occipital Epilepsy, Gastaut Type
- Benign Childhood Occipital Epilepsy, Panayiotopoulos Type
- Benign Concentric Annular Macular Dystrophy
- Benign Epithelial Tumor Of Salivary Glands
- Benign Familial Mesial Temporal Lobe Epilepsy
- Benign Familial Neonatal Epilepsy
- Benign Familial Neonatal-infantile Seizures
- Benign Focal Seizures Of Adolescence
- Benign Hereditary Chorea
- Benign Idiopathic Neonatal Seizures
- Benign Infantile Focal Epilepsy With Midline Spikes And Waves During Sleep
- Benign Infantile Seizures Associated With Mild Gastroenteritis
- Benign Metanephric Tumor
- Benign Nocturnal Alternating Hemiplegia Of Childhood
- Benign Occipital Epilepsy
- Benign Paroxysmal Positional Vertigo
- Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
- Benign Paroxysmal Torticollis Of Infancy
- Benign Partial Epilepsy Of Infancy With Complex Partial Seizures
- Benign Partial Epilepsy With Secondarily Generalized Seizures In Infancy
- Benign Recurrent Intrahepatic Cholestasis
- Benign Recurrent Intrahepatic Cholestasis Type 1
- Benign Recurrent Intrahepatic Cholestasis Type 2
- Benign Samaritan Congenital Myopathy
- Benign Schwannoma
- Benign Tumor Of Fallopian Tubes
- Benta Disease
- Bernard-soulier Syndrome
- Berylliosis
- Best Disease
- Best Vitelliform Macular Dystrophy
- Beta Thalassemia
- Beta-ketothiolase Deficiency
- Beta-mannosidosis
- Beta-mercaptolactate Cysteine Disulfiduria
- Beta-propeller Protein-associated Neurodegeneration
- Beta-thalassemia
- Beta-thalassemia Intermedia
- Beta-thalassemia Major
- Beta-thalassemia-x-linked Thrombocytopenia Syndrome
- Beta-ureidopropionase Deficiency
- Bethlem Myopathy
- Bicd2-related Autosomal Dominant Childhood-onset Proximal Spinal Muscular Atrophy
- Bicervical Bicornuate Uterus And Blind Hemivagina
- Bicervical Bicornuate Uterus With Patent Cervix And Vagina
- Bickerstaff Brainstem Encephalitis
- Biemond Syndrome Type 2
- Bietti Crystalline Dystrophy
- Bifid Nose
- Bifid Uvula
- Bifunctional Enzyme Deficiency
- Bilateral Acute Depigmentation Of The Iris
- Bilateral Frontal Polymicrogyria
- Bilateral Frontoparietal Polymicrogyria
- Bilateral Generalized Polymicrogyria
- Bilateral Massive Adrenal Hemorrhage
- Bilateral Microtia-deafness-cleft Palate Syndrome
- Bilateral Multicystic Dysplastic Kidney
- Bilateral Parasagittal Parieto-occipital Polymicrogyria
- Bilateral Perisylvian Polymicrogyria
- Bile Acid Coa Ligase Deficiency And Defective Amidation
- Bile Acid Synthesis Disorders
- Biliary Atresia
- Biliary Atresia With Splenic Malformation Syndrome
- Binder Type Nasomaxillary Dysplasia
- Binswanger's Disease
- Biotin-thiamine-responsive Basal Ganglia Disease
- Biotinidase Deficiency
- Bipartite Talus
- Birdshot Chorioretinopathy
- Birt-hogg-dubé Syndrome
- Birt-hogg-dube Syndrome (bhds)
- Björnstad Syndrome
- Bladder Exstrophy
- Bladder Exstrophy-epispadias-cloacal Exstrophy Complex
- Blake Pouch Cyst
- Blastomycosis
- Blau Syndrome
- Bleeding Diathesis Due To A Collagen Receptor Defect
- Bleeding Diathesis Due To Glycoprotein Vi Deficiency
- Bleeding Diathesis Due To Integrin Alpha2-beta1 Deficiency
- Bleeding Diathesis Due To Thromboxane Synthesis Deficiency
- Bleeding Disorder Due To Caldag-gefi Deficiency
- Bleeding Disorder Due To P2y12 Defect
- Bleeding Disorder In Hemophilia A Carriers
- Bleeding Disorder In Hemophilia B Carriers
- Blepharo-cheilo-odontic Syndrome
- Blepharonasofacial Malformation Syndrome
- Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
- Blepharophimosis-intellectual Disability Syndrome, Mkb Type
- Blepharophimosis-intellectual Disability Syndrome, Ohdo Type
- Blepharophimosis-intellectual Disability Syndrome, Sbbys Type
- Blepharophimosis-intellectual Disability Syndrome, Verloes Type
- Blepharophimosis-intellectual Disability Syndrome/genitopatellar Overlap Syndrome
- Blepharophimosis-ptosis-epicanthus Inversus Syndrome
- Blepharophimosis-ptosis-epicanthus Inversus Syndrome Plus
- Blepharophimosis-ptosis-epicanthus Inversus Syndrome Type 1
- Blepharophimosis-ptosis-epicanthus Inversus Syndrome Type 2
- Blepharophimosis-ptosis-esotropia-syndactyly-short Stature Syndrome
- Blepharoptosis-myopia-ectopia Lentis Syndrome
- Blepharospasm, Benign Essential
- Blepharospasm-oromandibular Dystonia Syndrome
- Blindness-scoliosis-arachnodactyly Syndrome
- Blomstrand Lethal Chondrodysplasia
- Bloom Syndrome
- Bloom Syndrome (congenital Telangiectatic Erythema)
- Blount Disease
- Blue Cone Monochromatism
- Blue Diaper Syndrome
- Blue Rubber Bleb Nevus
- Blue Rubber Bleb Nevus Syndrome
- Bnar Syndrome
- Bockenheimer Syndrome
- Body Integrity Dysphoria
- Body Skin Hyperlaxity Due To Vitamin K-dependent Coagulation Factor Deficiency
- Bohring-opitz Syndrome
- Bolivian Hemorrhagic Fever
- Bone Dysplasia, Lethal Holmgren Type
- Bonnemann-meinecke-reich Syndrome
- Boomerang Dysplasia
- Bor Syndrome
- Borderline Epithelial Tumor Of Ovary
- Borjeson-forssman-lehmann Syndrome
- Bosley-salih-alorainy Syndrome
- Bosma Arhinia Microphthalmia Syndrome
- Bothnia Retinal Dystrophy
- Botulism
- Boutonneuse Fever
- Bowen Disease
- Bowen Hutterite Syndrome
- Bowen-conradi Syndrome
- Bowenoid Papulosis
- Brachydactylous Dwarfism, Mseleni Type
- Brachydactyly Type A1
- Brachydactyly Type A2
- Brachydactyly Type A4
- Brachydactyly Type A6
- Brachydactyly Type A7
- Brachydactyly Type B
- Brachydactyly Type B1
- Brachydactyly Type B2
- Brachydactyly Type C
- Brachydactyly Type E
- Brachydactyly-arterial Hypertension Syndrome
- Brachydactyly-elbow Wrist Dysplasia Syndrome
- Brachydactyly-long Thumb Syndrome
- Brachydactyly-mesomelia-intellectual Disability-heart Defects Syndrome
- Brachydactyly-nystagmus-cerebellar Ataxia Syndrome
- Brachydactyly-preaxial Hallux Varus Syndrome
- Brachydactyly-short Stature-retinitis Pigmentosa Syndrome
- Brachydactyly-syndactyly, Zhao Type
- Brachymorphism-onychodysplasia-dysphalangism Syndrome
- Brachyolmia, Maroteaux Type
- Brachyolmia-amelogenesis Imperfecta Syndrome
- Brachytelephalangic Chondrodysplasia Punctata
- Brachytelephalangy-dysmorphism-kallmann Syndrome
- Braddock Syndrome
- Bradyopsia
- Brain Calcification, Rajab Type
- Brain Demyelination Due To Methionine Adenosyltransferase Deficiency
- Brain Dopamine-serotonin Vesicular Transport Disease
- Brain Imaging In Venous Vascular Malformations
- Brain Malformation-congenital Heart Disease-postaxial Polydactyly Syndrome
- Brain Malformations-musculoskeletal Abnormalities-facial Dysmorphism-intellectual Disability Syndrom
- Brain Meningioma Imaging
- Brain-lung-thyroid Syndrome
- Branchio Oculo Facial Syndrome
- Branchio-oculo-facial Syndrome
- Branchiogenic Deafness Syndrome
- Branchiootic Syndrome
- Branchiootorenal Spectrum Disorders
- Branchioskeletogenital Syndrome
- Brazilian Hemorrhagic Fever
- Bresek Syndrome
- Brill-zinsser Disease
- Brittle Cornea Syndrome
- Brody Myopathy
- Bronchial Neuroendocrine Tumor
- Bronchiolitis Obliterans Organizing Pneumonia
- Bronchiolitis Obliterans With Obstructive Pulmonary Disease
- Bronchogenic Cyst
- Bronchopulmonary Dysplasia
- Brooke-spiegler Syndrome
- Brown Séquard Syndrome
- Brown Syndrome
- Brown-sequard Syndrome
- Brucellosis
- Bruck Syndrome
- Brugada Syndrome
- Budd Chiari Syndrome
- Budd-chiari Syndrome
- Budd-chiari Syndrome Imaging
- Buerger Disease
- Buergers Disease
- Bullous Diffuse Cutaneous Mastocytosis
- Bullous Impetigo
- Bullous Lichen Planus
- Bullous Pemphigoid
- Bullous Pyoderma Gangrenosum
- Burkitt Lymphoma
- Burn-mckeown Syndrome
- Burning Mouth Syndrome
- Buschke-ollendorff Syndrome
- Butterfly-shaped Pigment Dystrophy
- Butyrylcholinesterase Deficiency
- Bves-related Limb-girdle Muscular Dystrophy
- Börjeson-forssman-lehman Syndrome
- Böök Syndrome
View All
- C Syndrome
- C11orf73-related Autosomal Recessive Hypomyelinating Leukodystrophy
- C3 Glomerulonephritis
- C3 Glomerulopathy
- C3 Glomerulopathy: Dense Deposit Disease And C3 Glomerulonephritis
- Cach Syndrome
- Cad-cdg
- Cadasil
- Cadds
- Cadins Disease
- Caffey Disease
- Calcifying Aponeurotic Fibroma
- Calciphylaxis
- Calciphylaxis Cutis
- Calpain-3-related Limb-girdle Muscular Dystrophy D4
- Calpain-3-related Limb-girdle Muscular Dystrophy R1
- Calvarial Doughnut Lesions-bone Fragility Syndrome
- Camos Syndrome
- Campomelia, Cumming Type
- Campomelic Dysplasia
- Campomelic Syndrome
- Camptobrachydactyly
- Camptodactyly Of Fingers
- Camptodactyly Syndrome, Guadalajara Type 1
- Camptodactyly Syndrome, Guadalajara Type 2
- Camptodactyly Syndrome, Guadalajara Type 3
- Camptodactyly-arthropathy-coxa-vara-pericarditis Syndrome
- Camptodactyly-fibrous Tissue Hyperplasia-skeletal Anomalies Syndrome
- Camptodactyly-joint Contractures-facial Skeletal Defects Syndrome
- Camptodactyly-tall Stature-scoliosis-hearing Loss Syndrome
- Camptodactyly-taurinuria Syndrome
- Camurati-engelmann Disease
- Canavan's Disease
- Canavan's Leukodystrophy
- Canavan-van Bogaert-bertrand Disease
- Cancer-associated Retinopathy
- Candidiasis
- Canomad Syndrome
- Cantú Syndrome
- Cap Myopathy
- Cap Polyposis
- Capillary Malformation-arteriovenous Malformation
- Car T Cell Therapy-associated Cytokine Release Syndrome
- Carasil
- Carbamoyl Phosphate Synthetase I Deficiency
- Carbamoyl-phosphate Synthetase 1 Deficiency
- Carcinofibroma Of The Corpus Uteri
- Carcinoid Syndrome
- Carcinoma Of The Ampulla Of Vater
- Carcinosarcoma Of The Cervix Uteri
- Carcinosarcoma Of The Corpus Uteri
- Card9 Deficiency
- Cardiac Anomalies-heterotaxy Syndrome
- Cardiac Diverticulum
- Cardiac-valvular Ehlers-danlos Syndrome
- Cardiofaciocutaneous Syndrome
- Cardiogenic Shock
- Cardiomyopathy-cataract-hip Spine Disease Syndrome
- Cardiomyopathy-hypotonia-lactic Acidosis Syndrome
- Cardiospondylocarpofacial Syndrome
- Carey-fineman-ziter Syndrome
- Caribbean Parkinsonism
- Carney Complex
- Carney Complex-trismus-pseudocamptodactyly Syndrome
- Carney Triad
- Carney-stratakis Syndrome
- Carnitine Deficiency
- Carnitine Palmitoyl Transferase 1a Deficiency
- Carnitine Palmitoyltransferase 1a Deficiency
- Carnitine Palmitoyltransferase Ii Deficiency
- Carnitine-acylcarnitine Translocase Deficiency
- Carnosinase Deficiency
- Carnosinemia
- Caroli Disease
- Caroli Disease Imaging
- Caroli Syndrome
- Carpenter Syndrome
- Carpotarsal Osteochondromatosis
- Cartilage-hair Hypoplasia
- Castleman Disease
- Cat Eye Syndrome
- Cat-eye Syndrome
- Cat-scratch Disease
- Catamenial Pneumothorax
- Cataract-aberrant Oral Frenula-growth Delay Syndrome
- Cataract-ataxia-deafness Syndrome
- Cataract-congenital Heart Disease-neural Tube Defect Syndrome
- Cataract-deafness-hypogonadism Syndrome
- Cataract-glaucoma Syndrome
- Cataract-growth Hormone Deficiency-sensory Neuropathy-sensorineural Hearing Loss-skeletal Dysplasia
- Cataract-hypertrichosis-intellectual Disability Syndrome
- Cataract-intellectual Disability-anal Atresia-urinary Defects Syndrome
- Cataract-intellectual Disability-hypogonadism Syndrome
- Cataract-microcornea Syndrome
- Cataract-nephropathy-encephalopathy Syndrome
- Catastrophic Antiphospholipid Syndrome
- Catel Manzke Syndrome
- Cathepsin A-related Arteriopathy-strokes-leukoencephalopathy
- Caudal Appendage-deafness Syndrome
- Caudal Duplication
- Caudal Regression Syndrome
- Cavernous Malformation
- Cavitary Myiasis
- Ccdc115-cdg
- Ccnk-related Neurodevelopmental Disorder-severe Intellectual Disability-facial Dysmorphism Syndrome
- Cd4+/cd56+ Hematodermic Neoplasm
- Cdkl5 Deficiency Disorder
- Cdkl5-deficiency Disorder
- Cebpe-associated Autoinflammation-immunodeficiency-neutrophil Dysfunction Syndrome
- Cednik Syndrome
- Celiac Artery Compression Syndrome
- Celiac Disease-epilepsy-cerebral Calcification Syndrome
- Celsr1-related Late-onset Primary Lymphedema
- Cenani-lenz Syndrome
- Central Areolar Choroidal Dystrophy
- Central Cloudy Dystrophy Of François
- Central Core Disease
- Central Diabetes Insipidus
- Central Nervous System Calcification-deafness-tubular Acidosis-anemia Syndrome
- Central Neurocytoma
- Central Pain Syndrome
- Central Polydactyly
- Central Precocious Puberty
- Central Retinal Vein Occlusion
- Central Serous Chorioretinopathy
- Centrifugal Lipodystrophy
- Centronuclear Myopathy
- Cerebellar Agenesis
- Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
- Cerebellar Ataxia, Cayman Type
- Cerebellar Ataxia-areflexia-pes Cavus-optic Atrophy-sensorineural Hearing Loss Syndrome
- Cerebellar Ataxia-ectodermal Dysplasia Syndrome
- Cerebellar Ataxia-hypogonadism Syndrome
- Cerebellar Degeneration, Subacute
- Cerebellar Hypoplasia-intellectual Disability-congenital Microcephaly-dystonia-anemia-growth Retarda
- Cerebellar Hypoplasia-tapetoretinal Degeneration Syndrome
- Cerebellar Liponeurocytoma
- Cerebellar-facial-dental Syndrome
- Cerebral Arteriovenous Malformation
- Cerebral Autosomal Dominant Arteriopathy-subcortical Infarcts-leukoencephalopathy
- Cerebral Autosomal Recessive Arteriopathy-subcortical Infarcts-leukoencephalopathy
- Cerebral Creatine Deficiency Syndromes
- Cerebral Folate Deficiency
- Cerebral Palsy
- Cerebral Sinovenous Thrombosis
- Cerebral Visual Impairment
- Cerebro Oculo Facio Skeletal Syndrome
- Cerebrocostomandibular Syndrome
- Cerebrofacial Arteriovenous Metameric Syndrome Type 1
- Cerebrofacial Arteriovenous Metameric Syndrome Type 3
- Cerebrofacioarticular Syndrome
- Cerebrofaciothoracic Dysplasia
- Cerebrooculonasal Syndrome
- Cerebrotendinous Xanthomatosis
- Cerebrotendinous Xanthomatosis (ctx)
- Cernunnos-xlf Deficiency
- Cerulean Cataract
- Cervical Aortic Arch
- Cervical Dermoid Cyst
- Cervical Dystonia
- Cervical Hypertrichosis-peripheral Neuropathy Syndrome
- Cervical Spina Bifida Aperta
- Cervical Spina Bifida Cystica
- Cervical Teratoma
- Cervicofacial Fibrochondroma
- Cervicothoracic Spina Bifida Aperta
- Cervicothoracic Spina Bifida Cystica
- Chagas Disease (american Trypanosomiasis)
- Chanarin-dorfman Syndrome
- Chand Syndrome
- Chandler Syndrome
- Chandlers Syndrome
- Chapare Hemorrhagic Fever
- Char Syndrome
- Charcot-marie-tooth Disease
- Charcot-marie-tooth Disease Type 1a
- Charcot-marie-tooth Disease Type 1b
- Charcot-marie-tooth Disease Type 1c
- Charcot-marie-tooth Disease Type 1d
- Charcot-marie-tooth Disease Type 1e
- Charcot-marie-tooth Disease Type 1f
- Charcot-marie-tooth Disease Type 2b1
- Charcot-marie-tooth Disease Type 2b2
- Charcot-marie-tooth Disease Type 2b5
- Charcot-marie-tooth Disease Type 2h
- Charcot-marie-tooth Disease Type 2p
- Charcot-marie-tooth Disease Type 2r
- Charcot-marie-tooth Disease Type 2s
- Charcot-marie-tooth Disease Type 2t
- Charcot-marie-tooth Disease Type 4a
- Charcot-marie-tooth Disease Type 4b1
- Charcot-marie-tooth Disease Type 4b2
- Charcot-marie-tooth Disease Type 4b3
- Charcot-marie-tooth Disease Type 4c
- Charcot-marie-tooth Disease Type 4d
- Charcot-marie-tooth Disease Type 4e
- Charcot-marie-tooth Disease Type 4f
- Charcot-marie-tooth Disease Type 4g
- Charcot-marie-tooth Disease Type 4h
- Charcot-marie-tooth Disease Type 4j
- Charge Syndrome
- Charlie M Syndrome
- Chd3-related Developmental Delay-speech Delay-intellectual Disability-abnormalities Of Vision-facial
- Chediak Higashi Syndrome
- Chediak-higashi Syndrome
- Cheilitis Glandularis
- Cheirospondyloenchondromatosis
- Chester Porphyria
- Chiari Frommel Syndrome
- Chiari Malformations
- Chikungunya
- Chilaiditis Syndrome
- Chilblain Lupus
- Child Syndrome
- Childhood Disintegrative Disorder
- Childhood Encephalopathy Due To Thiamine Pyrophosphokinase Deficiency
- Childhood-onset Autosomal Recessive Myopathy With External Ophthalmoplegia
- Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
- Childhood-onset Basal Ganglia Degeneration Syndrome
- Childhood-onset Benign Chorea With Striatal Involvement
- Childhood-onset Hypophosphatasia
- Childhood-onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
- Childhood-onset Progressive Contractures-limb-girdle Weakness-muscle Dystrophy Syndrome
- Childhood-onset Spasticity With Hyperglycinemia
- Childhood-onset Steinert Myotonic Dystrophy
- Choanal Atresia, Bilateral
- Choanal Atresia, Unilateral
- Choanal Atresia-athelia-hypothyroidism-delayed Puberty-short Stature Syndrome
- Cholangiocarcinoma
- Cholangiocarcinoma Imaging
- Choledochal Cyst
- Cholera
- Cholestasis-lymphedema Syndrome
- Cholestasis-pigmentary Retinopathy-cleft Palate Syndrome
- Cholesterol-ester Transfer Protein Deficiency
- Cholesteryl Ester Storage Disease
- Chondrocalcinosis 2
- Chondrodysplasia Punctata, Tibial-metacarpal Type
- Chondrodysplasia Punctata, Toriello Type
- Chondrodysplasia With Joint Dislocations, Gpapp Type
- Chondrodysplasia-disorder Of Sex Development Syndrome
- Chondroectodermal Dysplasia With Night Blindness
- Chondromyxoid Fibroma
- Chondrosarcoma
- Chordoid Glioma
- Chordoma
- Choreoacanthocytosis
- Choriocarcinoma Of The Central Nervous System
- Choroid Plexus Carcinoma
- Choroidal Atrophy-alopecia Syndrome
- Choroideremia
- Choroiditis, Serpiginous
- Christianson Syndrome
- Chromomycosis
- Chromophobe Renal Cell Carcinoma
- Chromosome 10, Distal Trisomy 10q
- Chromosome 10, Monosomy 10p
- Chromosome 11, Partial Monosomy 11q
- Chromosome 11, Partial Trisomy 11q
- Chromosome 13, Partial Monosomy 13q
- Chromosome 14 Ring
- Chromosome 14, Trisomy Mosaic
- Chromosome 15 Ring
- Chromosome 15, Distal Trisomy 15q
- Chromosome 18 Ring
- Chromosome 18, Monosomy 18p
- Chromosome 18, Tetrasomy 18p
- Chromosome 18q- Syndrome
- Chromosome 21 Ring
- Chromosome 22 Ring
- Chromosome 22q11.2 Deletion Syndrome
- Chromosome 3, Monosomy 3p
- Chromosome 3, Trisomy 3q2
- Chromosome 4, Monosomy Distal 4q
- Chromosome 4, Partial Trisomy Distal 4q
- Chromosome 4, Trisomy 4p
- Chromosome 4q Deletion
- Chromosome 5, Trisomy 5p
- Chromosome 6 Ring
- Chromosome 6, Partial Trisomy 6q
- Chromosome 7, Partial Monosomy 7p
- Chromosome 8, Monosomy 8p
- Chromosome 9 Ring
- Chromosome 9, Partial Monosomy 9p
- Chromosome 9, Tetrasomy 9p
- Chronic Actinic Dermatitis
- Chronic Atrial And Intestinal Dysrhythmia Syndrome
- Chronic Beryllium Disease
- Chronic Bilirubin Encephalopathy
- Chronic Diarrhea Due To Glucoamylase Deficiency
- Chronic Diarrhea With Villous Atrophy
- Chronic Endophthalmitis
- Chronic Enteropathy Associated With Slco2a1 Gene
- Chronic Eosinophilic Leukemia
- Chronic Eosinophilic Pneumonia
- Chronic Epstein-barr Virus Infection Syndrome
- Chronic Graft Versus Host Disease
- Chronic Granulomatous Disease
- Chronic Hiccup
- Chronic Infantile Diarrhea Due To Guanylate Cyclase 2c Overactivity
- Chronic Inflammatory Demyelinating Polyneuropathy
- Chronic Inflammatory Demyelinating Polyradiculoneuropathy
- Chronic Intervillositis Of Unknown Etiology
- Chronic Intestinal Failure
- Chronic Intestinal Pseudo-obstruction
- Chronic Intestinal Pseudoobstruction
- Chronic Lymphocytic Leukemia
- Chronic Lymphoproliferative Disorder Of Natural Killer Cells
- Chronic Mast Cell Leukemia
- Chronic Myelogenous Leukemia
- Chronic Myeloid Leukemia
- Chronic Myelomonocytic Leukemia
- Chronic Myeloproliferative Disease, Unclassifiable
- Chronic Neurovisceral Acid Sphingomyelinase Deficiency
- Chronic Neutrophilic Leukemia
- Chronic Nonbacterial Osteomyelitis/chronic Recurrent Multifocal Osteomyelitis
- Chronic Pneumonitis Of Infancy
- Chronic Relapsing Inflammatory Optic Neuropathy
- Chronic Respiratory Distress With Surfactant Metabolism Deficiency
- Chronic Thromboembolic Pulmonary Hypertension
- Chronic Visceral Acid Sphingomyelinase Deficiency
- Chronicautoimmune
- Chst3-related Skeletal Dysplasia
- Chudley-mccullough Syndrome
- Churg Strauss Syndrome
- Chuvash Erythrocytosis
- Chylomicron Retention Disease
- Chylous Ascites
- Cicatricial Alopecia
- Cidec-related Familial Partial Lipodystrophy
- Ciguatera Fish Poisoning
- Cinca Syndrome
- Circumscribed Palmoplantar Hypokeratosis
- Cirrhosis-dystonia-polycythemia-hypermanganesemia Syndrome
- Cirrhotic Cardiomyopathy
- Citrullinemia Type 1
- Citrullinemia Type I
- Citrullinemia Type Ii
- Ck Syndrome
- Clapo Syndrome
- Clark-baraitser Syndrome
- Class I Glucose-6-phosphate Dehydrogenase Deficiency
- Classic Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency, Salt Wasting Form
- Classic Congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency, Simple Virilizing Form
- Classic Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
- Classic Eosinophilic Pustular Folliculitis
- Classic Glucose Transporter Type 1 Deficiency Syndrome
- Classic Hereditary Hemochromatosis
- Classic Hodgkin Lymphoma, Lymphocyte-depleted Type
- Classic Hodgkin Lymphoma, Lymphocyte-rich Type
- Classic Hodgkin Lymphoma, Mixed Cellularity Type
- Classic Hodgkin Lymphoma, Nodular Sclerosis Type
- Classic Infantile Cln1 Disease
- Classic Maple Syrup Urine Disease
- Classic Medulloblastoma
- Classic Multiminicore Myopathy
- Classic Mycosis Fungoides
- Classic Neuroendocrine Tumor Of Appendix
- Classic Pantothenate Kinase-associated Neurodegeneration
- Classic Phenylketonuria
- Classic Progressive Supranuclear Palsy Syndrome
- Classic Pyoderma Gangrenosum
- Classic Stiff Person Syndrome
- Classical Ehlers-danlos Syndrome
- Classical-like Ehlers-danlos Syndrome Type 1
- Classical-like Ehlers-danlos Syndrome Type 2
- Clcn4-related X-linked Intellectual Disability Syndrome
- Clcn6-related Childhood-onset Progressive Neurodegeneration-peripheral Neuropathy Syndrome
- Clear Cell Papillary Renal Cell Carcinoma
- Clear Cell Renal Carcinoma
- Clear Cell Sarcoma Of Kidney
- Cleft Hard Palate
- Cleft Lip And Palate-craniofacial Dysmorphism-congenital Heart Defect-hearing Loss Syndrome
- Cleft Lip-retinopathy Syndrome
- Cleft Lip/palate-deafness-sacral Lipoma Syndrome
- Cleft Lip/palate-ectodermal Dysplasia Syndrome
- Cleft Lip/palate-intestinal Malrotation-cardiopathy Syndrome
- Cleft Mitral Valve
- Cleft Palate-large Ears-small Head Syndrome
- Cleft Palate-lateral Synechia Syndrome
- Cleft Palate-short Stature-vertebral Anomalies Syndrome
- Cleft Palate-stapes Fixation-oligodontia Syndrome
- Cleft Velum
- Cleidocranial Dysplasia
- Cleidorhizomelic Syndrome
- Climatic Droplet Keratopathy
- Clippers
- Cln1 Disease
- Cln10 Disease
- Cln11 Disease
- Cln13 Disease
- Cln2 Disease
- Cln3 Disease
- Cln4a Disease
- Cln4b Disease
- Cln5 Disease
- Cln6 Disease
- Cln7 Disease
- Cln8 Disease
- Cln9 Disease
- Cloacal Exstrophy
- Closed Iniencephaly
- Clostridial Myonecrosis
- Cloverleaf Skull-asphyxiating Thoracic Dysplasia Syndrome
- Cloverleaf Skull-multiple Congenital Anomalies Syndrome
- Cloves Syndrome
- Cluster Headache
- Cns Whipple Disease
- Cntnap2-related Developmental And Epileptic Encephalopathy
- Coasy Protein-associated Neurodegeneration
- Coats Disease
- Coats Plus Syndrome
- Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
- Cocaine Embryofetopathy
- Cocaine Intoxication
- Coccidioidomycosis
- Cochlear Nerve Deficiency
- Cochleosaccular Degeneration-cataract Syndrome
- Cochleovestibular Malformation
- Cockayne Syndrome
- Cockayne Syndrome Type 1
- Cockayne Syndrome Type 2
- Cockayne Syndrome Type 3
- Codas Syndrome
- Coffin Lowry Syndrome
- Coffin Siris Syndrome
- Coffin-lowry Syndrome
- Cofs Syndrome
- Cog1-cdg
- Cog2-cdg
- Cog4-cdg
- Cog5-cdg
- Cog6-cgd
- Cog7-cdg
- Cog8-cdg
- Cogan Reese Syndrome
- Cogan Syndrome
- Cogan-reese Syndrome
- Cognitive Impairment-coarse Facies-heart Defects-obesity-pulmonary Involvement-short Stature-skeleta
- Cohen Syndrome
- Col4a1-related Familial Vascular Leukoencephalopathy
- Col4a1/a2-related Disorders
- Colchicine Poisoning
- Cold Agglutinin Disease
- Cold-induced Sweating Syndrome
- Collagen Type Iii Glomerulopathy
- Collagen Type Vi-related Disorders
- Collecting Duct Carcinoma
- Coloboma Of Choroid And Retina
- Coloboma Of Eye Lens
- Coloboma Of Eyelid
- Coloboma Of Inferior Eyelid
- Coloboma Of Iris
- Coloboma Of Macula
- Coloboma Of Macula-brachydactyly Type B Syndrome
- Coloboma Of Optic Disc
- Coloboma Of Superior Eyelid
- Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness Syndrome
- Colobomatous Macrophthalmia-microcornea Syndrome
- Colobomatous Microphthalmia-obesity-hypogenitalism-intellectual Disability Syndrome
- Colobomatous Microphthalmia-rhizomelic Dysplasia Syndrome
- Colobomatous Optic Disc-macular Atrophy-chorioretinopathy Syndrome
- Colonic Atresia
- Colorado Tick Fever
- Combined Deficiency Of Factor V And Factor Viii
- Combined Deficiency Of Factor Vii And Factor X
- Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
- Combined Hepatocellular Carcinoma And Cholangiocarcinoma
- Combined Hyperactive Dysfunction Syndrome Of The Cranial Nerves
- Combined Immunodeficiency Due To Carmil2 Deficiency
- Combined Immunodeficiency Due To Cd27 Deficiency
- Combined Immunodeficiency Due To Cd3gamma Deficiency
- Combined Immunodeficiency Due To Cd70 Deficiency
- Combined Immunodeficiency Due To Crac Channel Dysfunction
- Combined Immunodeficiency Due To Dock8 Deficiency
- Combined Immunodeficiency Due To Gins1 Deficiency
- Combined Immunodeficiency Due To Il21r Deficiency
- Combined Immunodeficiency Due To Itk Deficiency
- Combined Immunodeficiency Due To Lrba Deficiency
- Combined Immunodeficiency Due To Malt1 Deficiency
- Combined Immunodeficiency Due To Moesin Deficiency
- Combined Immunodeficiency Due To Orai1 Deficiency
- Combined Immunodeficiency Due To Ox40 Deficiency
- Combined Immunodeficiency Due To Partial Rag1 Deficiency
- Combined Immunodeficiency Due To Rela Haploinsufficiency
- Combined Immunodeficiency Due To Stim1 Deficiency
- Combined Immunodeficiency Due To Stk4 Deficiency
- Combined Immunodeficiency Due To Tfrc Deficiency
- Combined Immunodeficiency Due To Zap70 Deficiency
- Combined Immunodeficiency With Faciooculoskeletal Anomalies
- Combined Immunodeficiency With Granulomatosis
- Combined Immunodeficiency-enteropathy Spectrum
- Combined Malonic And Methylmalonic Acidemia
- Combined Oxidative Phosphorylation Defect Type 11
- Combined Oxidative Phosphorylation Defect Type 13
- Combined Oxidative Phosphorylation Defect Type 14
- Combined Oxidative Phosphorylation Defect Type 15
- Combined Oxidative Phosphorylation Defect Type 17
- Combined Oxidative Phosphorylation Defect Type 2
- Combined Oxidative Phosphorylation Defect Type 20
- Combined Oxidative Phosphorylation Defect Type 21
- Combined Oxidative Phosphorylation Defect Type 23
- Combined Oxidative Phosphorylation Defect Type 24
- Combined Oxidative Phosphorylation Defect Type 25
- Combined Oxidative Phosphorylation Defect Type 26
- Combined Oxidative Phosphorylation Defect Type 27
- Combined Oxidative Phosphorylation Defect Type 29
- Combined Oxidative Phosphorylation Defect Type 30
- Combined Oxidative Phosphorylation Defect Type 39
- Combined Oxidative Phosphorylation Defect Type 4
- Combined Oxidative Phosphorylation Defect Type 7
- Combined Oxidative Phosphorylation Defect Type 8
- Combined Oxidative Phosphorylation Defect Type 9
- Combined Pancreatic Lipase-colipase Deficiency
- Combined Pulmonary Fibrosis-emphysema Syndrome
- Commissural Lip Fistula
- Common Variable Immune Deficiency
- Communicating Congenital Bronchopulmonary-foregut Malformation
- Complement Component 3 Deficiency
- Complement Hyperactivation-angiopathic Thrombosis-protein-losing Enteropathy Syndrome
- Complete Androgen Insensitivity Syndrome
- Complete Atrioventricular Septal Defect
- Complete Atrioventricular Septal Defect With Ventricular Hypoplasia
- Complete Atrioventricular Septal Defect-tetralogy Of Fallot
- Complete Cryptophthalmia
- Complete Digeorge Syndrome
- Complete Hydatidiform Mole
- Complete Septate Uterus
- Complex Lethal Osteochondrodysplasia
- Complex Regional Pain Syndrome
- Complex Regional Pain Syndrome Type 1
- Complex Regional Pain Syndrome Type 2
- Complication In Hemodialysis
- Composite Hemangioendothelioma
- Composite Lymphoma
- Conductive Deafness-malformed External Ear Syndrome
- Conductive Deafness-ptosis-skeletal Anomalies Syndrome
- Cone Dystrophy
- Cone Dystrophy With Supernormal Rod Response
- Confetti-like Macular Atrophy
- Congenital Abducens Nerve Palsy
- Congenital Absence Of Both Forearm And Hand
- Congenital Absence Of Both Lower Leg And Foot
- Congenital Absence Of Thigh And Lower Leg With Foot Present
- Congenital Absence Of Upper Arm And Forearm With Hand Present
- Congenital Absence/hypoplasia Of Fingers Excluding Thumb, Unilateral
- Congenital Achiasma
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia Due To 11-beta-hydroxylase Deficiency
- Congenital Adrenal Hyperplasia Due To 17-alpha-hydroxylase Deficiency
- Congenital Adrenal Hyperplasia Due To 3-beta-hydroxysteroid Dehydrogenase Deficiency
- Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
- Congenital Afibrinogenemia
- Congenital Agenesis Of The Scrotum
- Congenital Alpha2-antiplasmin Deficiency
- Congenital Alveolar Capillary Dysplasia
- Congenital Amegakaryocytic Thrombocytopenia
- Congenital Amyoplasia
- Congenital Analbuminemia
- Congenital Anomaly Of Hepatic Vein
- Congenital Anomaly Of The Tricuspid Valve Chordae
- Congenital Aortic Valve Atresia
- Congenital Aortic Valve Dysplasia
- Congenital Aortic Valve Stenosis
- Congenital Aortopulmonary Window
- Congenital Aphakia-iris Hypoplasia-microphthalmia-microcornea Syndrome
- Congenital Atransferrinemia
- Congenital Autosomal Recessive Small-platelet Thrombocytopenia
- Congenital Axonal Neuropathy With Encephalopathy
- Congenital Bilateral Absence Of Vas Deferens
- Congenital Bilateral Megacalycosis
- Congenital Bilateral Perisylvian Syndrome
- Congenital Bile Acid Synthesis Defect Type 1
- Congenital Bile Acid Synthesis Defect Type 2
- Congenital Bile Acid Synthesis Defect Type 3
- Congenital Bile Acid Synthesis Defect Type 4
- Congenital Bowing Of Long Bones
- Congenital Brachyesophagus-intrathoracic Stomach-vertebral Anomalies Syndrome
- Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency
- Congenital Cataract Microcornea With Corneal Opacity
- Congenital Cataract-hearing Loss-severe Developmental Delay Syndrome
- Congenital Cataract-hypertrophic Cardiomyopathy-mitochondrial Myopathy Syndrome
- Congenital Cataract-progressive Muscular Hypotonia-hearing Loss-developmental Delay Syndrome
- Congenital Cataract-severe Neonatal Hepatopathy-global Developmental Delay Syndrome
- Congenital Cataracts-facial Dysmorphism-neuropathy Syndrome
- Congenital Central Hypoventilation Syndrome
- Congenital Cerebellar Ataxia Due To Rnu12 Mutation
- Congenital Cervical Spinal Stenosis
- Congenital Chloride Diarrhea
- Congenital Chronic Diarrhea With Protein-losing Enteropathy
- Congenital Chylothorax
- Congenital Communicating Hydrocephalus
- Congenital Complete Agenesis Of Pericardium
- Congenital Contractural Arachnodactyly
- Congenital Cornea Plana
- Congenital Coronary Artery Aneurysm
- Congenital Cystic Eye
- Congenital Deficiency In Alpha-fetoprotein
- Congenital Disorders Of Glycosylation
- Congenital Dyserythropoietic Anemia Type I
- Congenital Dyserythropoietic Anemia Type Ii
- Congenital Dyserythropoietic Anemia Type Iii
- Congenital Dyserythropoietic Anemia Type Iv
- Congenital Ectropion Uveae
- Congenital Elbow Dislocation, Bilateral
- Congenital Elbow Dislocation, Unilateral
- Congenital Enterocyte Heparan Sulfate Deficiency
- Congenital Enteropathy Due To Enteropeptidase Deficiency
- Congenital Enterovirus Infection
- Congenital Epstein-barr Virus Infection
- Congenital Epulis
- Congenital Erosive And Vesicular Dermatosis
- Congenital Erythropoietic Porphyria
- Congenital Esophageal Diverticulum
- Congenital Eyelid Retraction
- Congenital Factor Ii Deficiency
- Congenital Factor V Deficiency
- Congenital Factor Vii Deficiency
- Congenital Factor X Deficiency
- Congenital Factor Xi Deficiency
- Congenital Factor Xii Deficiency
- Congenital Factor Xiii Deficiency
- Congenital Fiber Type Disproportion
- Congenital Fibrinogen Deficiency
- Congenital Fibrosis Of The Extraocular Muscles
- Congenital Generalized Hypercontractile Muscle Stiffness Syndrome
- Congenital Generalized Hypertrichosis, Ambras Type
- Congenital Generalized Lipodystrophy
- Congenital Genu Flexum
- Congenital Genu Recurvatum
- Congenital Gerbode Defect
- Congenital Heart Block
- Congenital Heart Defect-round Face-developmental Delay Syndrome
- Congenital Hepatic Fibrosis
- Congenital Hereditary Endothelial Dystrophy Type I
- Congenital Hereditary Endothelial Dystrophy Type Ii
- Congenital Hereditary Facial Paralysis-variable Hearing Loss Syndrome
- Congenital Herpes Simplex Virus Infection
- Congenital High-molecular-weight Kininogen Deficiency
- Congenital Horner Syndrome
- Congenital Hydrocephalus
- Congenital Hyperinsulinism
- Congenital Hypoplasia Of Thumb
- Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
- Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-binding Inhibitory Antibodies
- Congenital Ichthyosis-intellectual Disability-spastic Quadriplegia Syndrome
- Congenital Ichthyosis-microcephalus-tetraplegia Syndrome
- Congenital Infiltrating Lipomatosis Of The Face
- Congenital Insensitivity To Pain-anosmia-neuropathic Arthropathy
- Congenital Insensitivity To Pain-hyperhidrosis-absence Of C-fiber Innervation
- Congenital Intrauterine Infection-like Syndrome
- Congenital Intrinsic Factor Deficiency
- Congenital Isolated Acth Deficiency
- Congenital Knee Dislocation
- Congenital Labioscrotal Agenesis-cerebellar Malformation-corneal Dystrophy-facial Dysmorphism Syndro
- Congenital Lactase Deficiency
- Congenital Lactic Acidosis
- Congenital Laryngeal Cyst
- Congenital Laryngeal Palsy
- Congenital Laryngeal Web
- Congenital Laryngomalacia
- Congenital Left Ventricular Aneurysm
- Congenital Lethal Erythroderma
- Congenital Lethal Myopathy, Compton-north Type
- Congenital Limbs-face Contractures-hypotonia-developmental Delay Syndrome
- Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
- Congenital Lobar Emphysema
- Congenital Macroglossia
- Congenital Megacalycosis
- Congenital Mesoblastic Nephroma
- Congenital Microcephaly-severe Encephalopathy-progressive Cerebral Atrophy Syndrome
- Congenital Microcoria
- Congenital Microgastria
- Congenital Mitral Stenosis
- Congenital Multicore Myopathy With External Ophthalmoplegia
- Congenital Muscular Dystrophy
- Congenital Muscular Dystrophy Due To Lmna Mutation
- Congenital Muscular Dystrophy Type 1b
- Congenital Muscular Dystrophy With Hyperlaxity
- Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency
- Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
- Congenital Muscular Dystrophy Without Intellectual Disability
- Congenital Muscular Dystrophy, Fukuyama Type
- Congenital Muscular Dystrophy, Ullrich Type
- Congenital Muscular Dystrophy-infantile Cataract-hypogonadism Syndrome
- Congenital Muscular Dystrophy-respiratory Failure-skin Abnormalities-joint Hyperlaxity Syndrome
- Congenital Myasthenic Syndromes
- Congenital Myasthenic Syndromes With Glycosylation Defect
- Congenital Myopathy
- Congenital Myopathy With Excess Of Thin Filaments
- Congenital Myopathy With Internal Nuclei And Atypical Cores
- Congenital Myopathy With Myasthenic-like Onset
- Congenital Myopathy With Reduced Type 2 Muscle Fibers
- Congenital Myopathy, Paradas Type
- Congenital Nephrotic Syndrome, Finnish Type
- Congenital Neuronal Ceroid Lipofuscinosis
- Congenital Neutropenia-myelofibrosis-nephromegaly Syndrome
- Congenital Non-communicating Hydrocephalus
- Congenital Oculomotor Nerve Palsy
- Congenital Or Early Infantile Cach Syndrome
- Congenital Osteogenesis Imperfecta-microcephaly-cataracts Syndrome
- Congenital Pancreatic Cyst
- Congenital Panfollicular Nevus
- Congenital Partial Agenesis Of Pericardium
- Congenital Partial Pulmonary Venous Return Anomaly
- Congenital Patella Dislocation
- Congenital Patent Ductus Arteriosus Aneurysm
- Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
- Congenital Plasminogen Deficiency
- Congenital Portosystemic Shunt
- Congenital Prekallikrein Deficiency
- Congenital Primary Aphakia
- Congenital Primary Lymphedema Of Gordon
- Congenital Primary Megaureter
- Congenital Primary Megaureter, Nonrefluxing And Unobstructed Form
- Congenital Primary Megaureter, Obstructed Form
- Congenital Primary Megaureter, Refluxing And Obstructed Form
- Congenital Primary Megaureter, Refluxing Form
- Congenital Progressive Bone Marrow Failure-b-cell Immunodeficiency-skeletal Dysplasia Syndrome
- Congenital Pseudoarthrosis Of The Clavicle
- Congenital Pseudoarthrosis Of The Femur
- Congenital Pseudoarthrosis Of The Fibula
- Congenital Pseudoarthrosis Of The Limbs
- Congenital Pseudoarthrosis Of The Radius
- Congenital Pseudoarthrosis Of The Tibia
- Congenital Pseudoarthrosis Of The Ulna
- Congenital Ptosis
- Congenital Pulmonary Airway Malformation Type 0
- Congenital Pulmonary Airway Malformation Type 1
- Congenital Pulmonary Airway Malformation Type 2
- Congenital Pulmonary Airway Malformation Type 3
- Congenital Pulmonary Airway Malformation Type 4
- Congenital Pulmonary Lymphangiectasia
- Congenital Pulmonary Sequestration
- Congenital Pulmonary Veins Atresia Or Stenosis
- Congenital Radioulnar Synostosis
- Congenital Renal Artery Stenosis
- Congenital Respiratory-biliary Fistula
- Congenital Reticular Ichthyosiform Erythroderma
- Congenital Retinal Arteriovenous Communication
- Congenital Short Bowel Syndrome
- Congenital Sialidosis Type 2
- Congenital Sideroblastic Anemia-b-cell Immunodeficiency-periodic Fever-developmental Delay Syndrome
- Congenital Smooth Muscle Hamartoma
- Congenital Sodium Diarrhea
- Congenital Stenosis Of The Inferior Vena Cava
- Congenital Stromal Corneal Dystrophy
- Congenital Subglottic Stenosis
- Congenital Sucrase-isomaltase Deficiency
- Congenital Supravalvular Mitral Ring
- Congenital Symblepharon
- Congenital Syphilis
- Congenital Systemic Arteriovenous Fistula
- Congenital Temporomandibular Joint Ankylosis
- Congenital Thrombotic Thrombocytopenic Purpura
- Congenital Total Pulmonary Venous Return Anomaly
- Congenital Tracheal Stenosis
- Congenital Tracheomalacia
- Congenital Tricuspid Stenosis
- Congenital Tricuspid Valve Dysplasia
- Congenital Trigeminal Anesthesia
- Congenital Trochlear Nerve Palsy
- Congenital Tufting Enteropathy
- Congenital Unguarded Mitral Orifice
- Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
- Congenital Varicella Syndrome
- Congenital Velopharyngeal Incompetence
- Congenital Vertebral-cardiac-renal Anomalies Syndrome
- Congenital Vertical Talus
- Congenital Vertical Talus, Bilateral
- Congenital Vertical Talus, Unilateral
- Congenital-onset Steinert Myotonic Dystrophy
- Congenitally Short Costocoracoid Ligament
- Congenitally Uncorrected Transposition Of The Great Arteries
- Congenitally Uncorrected Transposition Of The Great Arteries With Cardiac Malformation
- Congenitally Uncorrected Transposition Of The Great Arteries With Coarctation
- Conjunctival Malignant Melanoma
- Connective Tissue Disorder Due To Lysyl Hydroxylase-3 Deficiency
- Cono-spondylar Dysplasia
- Conradi Hünermann Syndrome
- Constitutional Megaloblastic Anemia With Severe Neurologic Disease
- Constitutional Mismatch Repair Deficiency Syndrome
- Constriction Rings Syndrome
- Continuous Spikes And Waves During Sleep
- Contractures-developmental Delay-pierre Robin Syndrome
- Contractures-ectodermal Dysplasia-cleft Lip/palate Syndrome
- Contractures-webbed Neck-micrognathia-hypoplastic Nipples Syndrome
- Cooks Syndrome
- Cooper-jabs Syndrome
- Copa Syndrome
- Cor Triatriatum
- Cor Triatriatum Dexter
- Cor Triatriatum Sinister
- Coralliform Cataract
- Corneal Dystrophies
- Corneal Dystrophy-perceptive Deafness Syndrome
- Corneal Endotheliitis
- Corneal Intraepithelial Dyskeratosis-palmoplantar Hyperkeratosis-laryngeal Dyskeratosis Syndrome
- Cornelia De Lange Syndrome
- Corneodermatoosseous Syndrome
- Coronary Arterial Fistula
- Coronary Ostial Stenosis Or Atresia
- Coronary Sinus Atresia
- Coronary Sinus Stenosis
- Corpus Callosum Agenesis-abnormal Genitalia Syndrome
- Corpus Callosum Agenesis-intellectual Disability-coloboma-micrognathia Syndrome
- Corpus Callosum Agenesis-macrocephaly-hypertelorism Syndrome
- Corpus Callosum Agenesis-neuronopathy Syndrome
- Cortical Blindness-intellectual Disability-polydactyly Syndrome
- Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
- Corticobasal Degeneration
- Corticobasal Syndrome
- Corticosteroid-binding Globulin Deficiency
- Corticosteroid-sensitive Aseptic Abscess Syndrome
- Costello Syndrome
- Coxoauricular Syndrome
- Coxopodopatellar Syndrome
- Cramp-fasciculation Syndrome
- Crandall Syndrome
- Crane-heise Syndrome
- Cranial Meningocele
- Cranio-cervical Dystonia With Laryngeal And Upper-limb Involvement
- Cranio-osteoarthropathy
- Craniodigital-intellectual Disability Syndrome
- Craniofacial Conodysplasia
- Craniofacial Dysplasia-short Stature-ectodermal Anomalies-intellectual Disability Syndrome
- Craniofacial Syndromes
- Craniofacial-deafness-hand Syndrome
- Craniofaciofrontodigital Syndrome
- Craniofrontonasal Dysplasia
- Craniofrontonasal Dysplasia-poland Anomaly Syndrome
- Craniolenticulosutural Dysplasia
- Craniometadiaphyseal Dysplasia, Wormian Bone Type
- Craniometaphyseal Dysplasia
- Craniomicromelic Syndrome
- Craniopharyngioma
- Craniorachischisis
- Craniorhiny
- Craniosynostosis, Boston Type
- Craniosynostosis, Herrmann-opitz Type
- Craniosynostosis, Philadelphia Type
- Craniosynostosis-anal Anomalies-porokeratosis Syndrome
- Craniosynostosis-dandy-walker Malformation-hydrocephalus Syndrome
- Craniosynostosis-dental Anomalies
- Craniosynostosis-hydrocephalus-arnold-chiari Malformation Type I-radioulnar Synostosis Syndrome
- Craniosynostosis-intracranial Calcifications Syndrome
- Craniosynostosis-microretrognathia-severe Intellectual Disability Syndrome
- Craniotelencephalic Dysplasia
- Creatine Transporter Deficiency
- Cree Leukoencephalopathy
- Creeping Myiasis
- Creutzfeldt Jakob Disease
- Cri Du Chat Syndrome
- Crigler Najjar Syndrome
- Crigler-najjar Syndrome
- Crigler-najjar Syndrome Type 1
- Crigler-najjar Syndrome Type 2
- Crimean-congo Hemorrhagic Fever
- Crisponi Syndrome
- Criss-cross Heart
- Cronkhite-canada Syndrome
- Crossed Polysyndactyly
- Crouzon Syndrome
- Crouzon Syndrome-acanthosis Nigricans Syndrome
- Cryoglobulinemic Vasculitis
- Cryptococcosis
- Cryptogenic Late-onset Epileptic Spasms
- Cryptogenic Multifocal Ulcerous Stenosing Enteritis
- Cryptogenic Organizing Pneumonia
- Cryptomicrotia-brachydactyly-excess Fingertip Arch Syndrome
- Cryptorchidism-arachnodactyly-intellectual Disability Syndrome
- Ctcf-related Neurodevelopmental Disorder
- Curly Hair-acral Keratoderma-caries Syndrome
- Currarino Syndrome
- Curry-jones Syndrome
- Cushing Disease
- Cushing Syndrome
- Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
- Cutaneous Collagenous Vasculopathy
- Cutaneous Kikuchi Disease
- Cutaneous Larva Migrans
- Cutaneous Mastocytoma
- Cutaneous Photosensitivity-lethal Colitis Syndrome
- Cutaneous Polyarteritis Nodosa
- Cutaneous Pseudolymphoma
- Cutaneous Small Vessel Vasculitis
- Cutaneous T-cell Lymphoma
- Cutaneous T-cell Lymphomas
- Cutaneous Vasculitis
- Cutis Gyrata-acanthosis Nigricans-craniosynostosis Syndrome
- Cutis Laxa
- Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies
- Cutis Laxa-marfanoid Syndrome
- Cutis Marmorata Telangiectatica Congenita
- Cyanide Poisoning
- Cyanide-induced Parkinsonism-dystonia
- Cyclic Neutropenia
- Cyclic Vomiting Syndrome
- Cyclosporosis
- Cylindrical Spirals Myopathy
- Cyprus Facial-neuromusculoskeletal Syndrome
- Cystadenoma Of Childhood
- Cystathioninuria
- Cystic Echinococcosis
- Cystic Fibrosis
- Cystic Fibrosis-gastritis-megaloblastic Anemia Syndrome
- Cystic Hamartoma Of Lung And Kidney
- Cystic Leukoencephalopathy Without Megalencephaly
- Cysticercosis
- Cystinosis
- Cystinuria
- Cystinuria Type A
- Cystinuria Type B
- Cystoid Macular Dystrophy
- Cytochrome C Oxidase Deficiency
- Cytomegalovirus Disease In Patients With Impaired Cell Mediated Immunity Deemed At Risk
- Cytomegalovirus Infection
- Cytophagic Histiocytic Panniculitis
- Cytosolic Phospholipase-a2 Alpha Deficiency Associated Bleeding Disorder
- Czeizel-losonci Syndrome
View All
- D,l-2-hydroxyglutaric Aciduria
- D-2-hydroxyglutaric Aciduria
- D-glyceric Aciduria
- Dacryocystitis-osteopoikilosis Syndrome
- Dahlberg-borer-newcomer Syndrome
- Dandy Walker Malformation
- Dandy-walker Cyst
- Dandy-walker Deformity
- Dandy-walker Malformation-postaxial Polydactyly Syndrome
- Dandy-walker Syndrome
- Danon Disease
- Darier Disease
- Ddost-cdg
- Ddx41-related Hematologic Malignancy Predisposition Syndrome
- De Barsy Syndrome
- De Novo Thrombotic Microangiopathy After Kidney Transplantation
- De Santis Cacchione Syndrome
- Deaf Blind Hypopigmentation Syndrome, Yemenite Type
- Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
- Deafness-craniofacial Syndrome
- Deafness-ear Malformation-facial Palsy Syndrome
- Deafness-enamel Hypoplasia-nail Defects Syndrome
- Deafness-encephaloneuropathy-obesity-valvulopathy Syndrome
- Deafness-epiphyseal Dysplasia-short Stature Syndrome
- Deafness-genital Anomalies-metacarpal And Metatarsal Synostosis Syndrome
- Deafness-hypogonadism Syndrome
- Deafness-infertility Syndrome
- Deafness-intellectual Disability Syndrome, Martin-probst Type
- Deafness-lymphedema-leukemia Syndrome
- Deafness-oligodontia Syndrome
- Deafness-small Bowel Diverticulosis-neuropathy Syndrome
- Deafness-vitiligo-achalasia Syndrome
- Dedifferentiated Liposarcoma
- Deep Dermatophytosis
- Deficiency In Anterior Pituitary Function-variable Immunodeficiency Syndrome
- Degos Disease
- Dehydrated Hereditary Stomatocytosis
- Dejerine Sottas Disease
- Dejerine-sottas Syndrome
- Delayed Encephalopathy Due To Carbon Monoxide Poisoning
- Delayed Membranous Cranial Ossification
- Delayed Speech-facial Asymmetry-strabismus-ear Lobe Creases Syndrome
- Delta-beta-thalassemia
- Dementia Pugilistica
- Demodicidosis
- Dendritic Cell Sarcoma Not Otherwise Specified
- Dengue Fever
- Dense Deposit Disease
- Dent Disease
- Dent Disease Type 1
- Dent Disease Type 2
- Dental Ankylosis
- Dentatorubral Pallidoluysian Atrophy
- Dentin Dysplasia
- Dentin Dysplasia Type I
- Dentin Dysplasia Type Ii
- Dentin Dysplasia-sclerotic Bones Syndrome
- Dentinogenesis Imperfecta
- Dentinogenesis Imperfecta Type 2
- Dentinogenesis Imperfecta Type 3
- Dentinogenesis Imperfecta Type Iii
- Dentinogenesis Imperfecta-short Stature-hearing Loss-intellectual Disability Syndrome
- Denys-drash Syndrome
- Deoxyhypusine Synthase Disorder
- Depersonalization Disorder
- Dercums Disease
- Dermatitis Herpetiformis
- Dermatofibrosarcoma Protuberans
- Dermatoleukodystrophy
- Dermatologic Manifestations Of Eosinophilia-myalgia Syndrome
- Dermatologic Manifestations Of Eosinophilic Fasciitis
- Dermatologic Manifestations Of Hermansky-pudlak Syndrome
- Dermatologic Manifestations Of Necrotizing Fasciitis
- Dermatologic Manifestations Of Niemann-pick Disease
- Dermatologic Manifestations Of Nocardiosis
- Dermatologic Manifestations Of Rubella
- Dermatologic Manifestations Of Rubinstein-taybi Syndrome
- Dermatologic Manifestations Of Sjogren-larsson Syndrome
- Dermatologic Manifestations Of Stevens-johnson Syndrome And Toxic Epidermal Necrolysis
- Dermatologic Manifestations Of Waardenburg Syndrome
- Dermatomyositis
- Dermatoosteolysis, Kirghizian Type
- Dermatopathia Pigmentosa Reticularis
- Dermatosparaxis Ehlers-danlos Syndrome
- Dermochondrocorneal Dystrophy
- Dermoid Or Epidermoid Cyst Of The Central Nervous System
- Dermoodontodysplasia
- Dermotrichic Syndrome
- Desbuquois Syndrome
- Desmin-related Myopathy With Mallory Body-like Inclusions
- Desminopathy
- Desmoid Tumor
- Desmoplastic Infantile Astrocytoma/ganglioglioma
- Desmoplastic Small Round Cell Tumor
- Desmoplastic/nodular Medulloblastoma
- Desmosterolosis
- Desquamative Interstitial Pneumonia
- Developmental And Speech Delay Due To Sox5 Deficiency
- Developmental Delay Due To Methylmalonate Semialdehyde Dehydrogenase Deficiency
- Developmental Delay With Autism Spectrum Disorder And Gait Instability
- Developmental Delay-facial Dysmorphism Syndrome Due To Med13l Deficiency
- Developmental Delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia Syndrome
- Developmental Malformations-deafness-dystonia Syndrome
- Dextrocardia
- Dextrocardia With Situs Inversus
- Diabetes Insipidus
- Diabetic Embryopathy
- Diamond Blackfan Anemia
- Dianzani Autoimmune Lymphoproliferative Disease
- Diaph1-related Sensorineural Hearing Loss-thrombocytopenia Syndrome
- Diaphanospondylodysostosis
- Diaphragmatic Defect-limb Deficiency-skull Defect Syndrome
- Diaphragmatic Hernia-short Bowel-asplenia Syndrome
- Diaphyseal Medullary Stenosis-bone Malignancy Syndrome
- Diastrophic Dysplasia
- Diazoxide-resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency
- Diazoxide-resistant Focal Hyperinsulinism Due To Sur1 Deficiency
- Dicarboxylic Aminoaciduria
- Didelphys Uterus
- Didymosis Aplasticosebacea
- Diencephalic Syndrome
- Diencephalic-mesencephalic Junction Dysplasia
- Diethylstilbestrol Syndrome
- Differentiated Thyroid Carcinoma
- Diffuse Alveolar Hemorrhage
- Diffuse Astrocytoma
- Diffuse Cerebral And Cerebellar Atrophy-intractable Seizures-progressive Microcephaly Syndrome
- Diffuse Cutaneous Mastocytosis
- Diffuse Cutaneous Systemic Sclerosis
- Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia
- Diffuse Intrinsic Pontine Glioma
- Diffuse Large B-cell Lymphoma Of The Central Nervous System
- Diffuse Large B-cell Lymphoma With Chronic Inflammation
- Diffuse Leptomeningeal Melanocytosis
- Diffuse Lymphatic Malformation
- Diffuse Neonatal Hemangiomatosis
- Diffuse Palmoplantar Keratoderma With Painful Fissures
- Diffuse Palmoplantar Keratoderma-acrocyanosis Syndrome
- Diffuse Panbronchiolitis
- Diffuse Pulmonary Lymphangiomatosis
- Digestive Duplication
- Digestive Duplication Cyst Of The Tongue
- Digital Extensor Muscle Aplasia-polyneuropathy
- Digitalis Poisoning
- Dihydropteridine Reductase Deficiency
- Dihydropyrimidine Dehydrogenase Deficiency
- Dihydropyrimidinuria
- Dilatation Of The Pulmonary Artery, Idiopathic
- Dilated Cardiomyopathy With Ataxia
- Dilated Cardiomyopathy-hypergonadotropic Hypogonadism Syndrome
- Dimethylglycine Dehydrogenase Deficiency
- Diphallia
- Diphtheria
- Diphyllobothriasis
- Diprosopus
- Dirofilariasis
- Discoid Lupus Erythematosus
- Discrete Fibromuscular Subaortic Stenosis
- Discrete Fixed Membranous Subaortic Stenosis
- Discrete Papular Lichen Myxedematosus
- Dislocation Of The Hip-dysmorphism Syndrome
- Disorder Of Sex Development-intellectual Disability Syndrome
- Dissecting Cellulitis Of The Scalp
- Disseminated Peritoneal Leiomyomatosis
- Distal 16p11.2 Microdeletion Syndrome
- Distal 17p13.1 Microdeletion Syndrome
- Distal 17p13.3 Microdeletion Syndrome
- Distal 22q11.2 Microdeletion Syndrome
- Distal 22q11.2 Microduplication Syndrome
- Distal 7q11.23 Microdeletion Syndrome
- Distal 7q11.23 Microduplication Syndrome
- Distal Anoctaminopathy
- Distal Arthrogryposis Type 10
- Distal Arthrogryposis Type 5d
- Distal Hereditary Motor Neuropathy Type 1
- Distal Hereditary Motor Neuropathy Type 2
- Distal Hereditary Motor Neuropathy Type 5
- Distal Hereditary Motor Neuropathy Type 7
- Distal Hereditary Motor Neuropathy, Jerash Type
- Distal Limb Deficiencies-micrognathia Syndrome
- Distal Monosomy 10p
- Distal Monosomy 10q
- Distal Monosomy 12p
- Distal Monosomy 12q
- Distal Monosomy 13q
- Distal Monosomy 14q
- Distal Monosomy 15q
- Distal Monosomy 17q
- Distal Monosomy 19p13.3
- Distal Monosomy 1q
- Distal Monosomy 3p
- Distal Monosomy 4q
- Distal Monosomy 6p
- Distal Monosomy 7p
- Distal Monosomy 7q36
- Distal Monosomy 9p
- Distal Myopathy
- Distal Myopathy With Anterior Tibial Onset
- Distal Myopathy With Posterior Leg And Anterior Hand Involvement
- Distal Myopathy, Tateyama Type
- Distal Myopathy, Welander Type
- Distal Myotilinopathy
- Distal Nebulin Myopathy
- Distal Renal Tubular Acidosis With Anemia
- Distal Spinal Muscular Atrophy Type 3
- Distal Symphalangism
- Distal Tetrasomy 15q
- Distal Trisomy 10q
- Distal Trisomy 11q
- Distal Trisomy 13q
- Distal Trisomy 14q
- Distal Trisomy 15q
- Distal Trisomy 16q
- Distal Trisomy 17q
- Distal Trisomy 18q
- Distal Trisomy 19q
- Distal Trisomy 1p36
- Distal Trisomy 20q
- Distal Trisomy 22q
- Distal Trisomy 2p
- Distal Trisomy 2q
- Distal Trisomy 3p
- Distal Trisomy 4q
- Distal Trisomy 5q
- Distal Trisomy 6p
- Distal Trisomy 6q
- Distal Trisomy 7p
- Distal Trisomy 8q
- Distal Trisomy 9q
- Distal Xq28 Microduplication Syndrome
- Distomatosis
- Ditra
- Dna2-related Mitochondrial Dna Deletion Syndrome
- Dnajb2-related Charcot-marie-tooth Disease Type 2
- Dnajb6-related Limb-girdle Muscular Dystrophy D1
- Dnm1l-related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
- Dobrow Syndrome
- Dock2 Deficiency
- Dominant Beta-thalassemia
- Dominant Hypophosphatemia With Nephrolithiasis Or Osteoporosis
- Dominant Multiple Epiphyseal Dysplasia
- Donath-landsteiner Hemolytic Anemia
- Donson-related Microcephaly-short Stature-limb Abnormalities Spectrum
- Door Syndrome
- Dopa-responsive Dystonia Due To Sepiapterin Reductase Deficiency
- Dopamine Beta-hydroxylase Deficiency
- Double Outlet Left Ventricle
- Double Outlet Right Ventricle
- Double Outlet Right Ventricle With Atrioventricular Septal Defect, Pulmonary Stenosis, Heterotaxy
- Double Outlet Right Ventricle With Non-committed Subpulmonary Ventricular Septal Defect
- Double Outlet Right Ventricle With Subaortic Or Doubly Committed Ventricular Septal Defect
- Double Outlet Right Ventricle With Subaortic Or Doubly Committed Ventricular Septal Defect With Pulm
- Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect
- Double Uterus-hemivagina-renal Agenesis Syndrome
- Double-orifice Mitral Valve
- Dowling-degos Disease
- Dpagt1-cdg
- Dpm1-cdg
- Dpm3-cdg
- Dracunculiasis
- Dracunculosis
- Dravet Syndrome
- Drug Or Radiation Exposure-related Interstitial Lung Disease
- Drug Reaction With Eosinophilia And Systemic Symptoms
- Drug-induced Autoimmune Hemolytic Anemia
- Drug-induced Localized Lipodystrophy
- Drug-induced Lupus Erythematosus
- Drug-induced Pemphigus
- Drug-induced Vasculitis
- Drug-related Renal Tubular Dysgenesis
- Duane Anomaly-myopathy-scoliosis Syndrome
- Duane Retraction Syndrome With Congenital Deafness
- Duane Syndrome
- Dubin Johnson Syndrome
- Dubin-johnson Syndrome
- Dubowitz Syndrome
- Duchenne Muscular Dystrophy
- Duodenal Atresia Or Stenosis
- Dup15q Syndrome
- Duplication Of The Pituitary Gland
- Duplication Of Urethra
- Dupuytrens Contracture
- Dural Sinus Malformation
- Dyggve Melchior Clausen Syndrome
- Dyggve-melchior-clausen Disease
- Dync1h1-related Autosomal Dominant Childhood-onset Proximal Spinal Muscular Atrophy
- Dyrk1a-related Intellectual Disability Syndrome
- Dyrk1a-related Intellectual Disability Syndrome Due To 21q22.13q22.2 Microdeletion
- Dysautonomia, Familial
- Dysbetalipoproteinemia
- Dyschondrosteosis-nephritis Syndrome
- Dyschromatosis Symmetrica Hereditaria
- Dyschromatosis Universalis Hereditaria
- Dysembryoplastic Neuroepithelial Tumor
- Dysequilibrium Syndrome
- Dysferlin-related Limb-girdle Muscular Dystrophy R2
- Dyskeratosis Congenita
- Dysmorphism-cleft Palate-loose Skin Syndrome
- Dysmorphism-conductive Hearing Loss-heart Defect Syndrome
- Dysmorphism-pectus Carinatum-joint Laxity Syndrome
- Dysmorphism-short Stature-deafness-disorder Of Sex Development Syndrome
- Dysosteosclerosis
- Dysostosis, Stanescu Type
- Dysphagia Lusoria
- Dysplasia Epiphysealis Hemimelica
- Dysplasia Epiphysealis Hemimelica (trevor Disease)
- Dysplasia Of Head Of Femur, Meyer Type
- Dysplastic Cortical Hyperostosis
- Dysraphism-cleft Lip/palate-limb Reduction Defects Syndrome
- Dyssegmental Dysplasia, Rolland-desbuquois Type
- Dyssegmental Dysplasia, Silverman-handmaker Type
- Dysspondyloenchondromatosis
- Dystonia
- Dystonia 16
- Dystonia 28
- Dystonia-aphonia Syndrome
- Dystonia-parkinsonism-hypermanganesemia Syndrome
- Dystrophic Epidermolysis Bullosa Pruriginosa
View All
- Eales Disease
- Ear, Patella, Short Stature Syndrome
- Early Myoclonic Encephalopathy
- Early-onset Anterior Polar Cataract
- Early-onset Autoimmunity-autoinflammation-immunodeficiency Syndrome
- Early-onset Calcifying Leukoencephalopathy-skeletal Dysplasia
- Early-onset Cerebellar Ataxia With Retained Tendon Reflexes
- Early-onset Epilepsy-intellectual Disability-brain Anomalies Syndrome
- Early-onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2a Mutation
- Early-onset Epileptic Encephalopathy-cortical Blindness-intellectual Disability-facial Dysmorphism S
- Early-onset Familial Hypoaldosteronism
- Early-onset Generalized Limb-onset Dystonia
- Early-onset Lafora Body Disease
- Early-onset Lamellar Cataract
- Early-onset Myopathy With Fatal Cardiomyopathy
- Early-onset Myopathy-areflexia-respiratory Distress-dysphagia Syndrome
- Early-onset Obesity-hyperphagia-severe Developmental Delay Syndrome
- Early-onset Parkinsonism-intellectual Disability Syndrome
- Early-onset Posterior Polar Cataract
- Early-onset Posterior Subcapsular Cataract
- Early-onset Progressive Diffuse Brain Atrophy-microcephaly-muscle Weakness-optic Atrophy Syndrome
- Early-onset Progressive Encephalopathy With Migrant Continuous Myoclonus
- Early-onset Progressive Encephalopathy-hearing Loss-pons Hypoplasia-brain Atrophy Syndrome
- Early-onset Progressive Encephalopathy-spastic Ataxia-distal Spinal Muscular Atrophy Syndrome
- Early-onset Progressive Neurodegeneration-blindness-ataxia-spasticity Syndrome
- Early-onset Schizophrenia
- Early-onset Seizures-distal Limb Anomalies-facial Dysmorphism-global Developmental Delay Syndrome
- Early-onset Spastic Ataxia-myoclonic Epilepsy-neuropathy Syndrome
- Early-onset Sutural Cataract
- Early-onset X-linked Optic Atrophy
- East Texas Bleeding Disorder
- Eastern Equine Encephalitis
- Eating Reflex Epilepsy
- Ebola Hemorrhagic Fever
- Ectasia Of The Left Atrial Appendage
- Ectasia Of The Right Atrial Appendage
- Ectodermal Dysplasia
- Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
- Ectodermal Dysplasia, Trichoodontoonychial Type
- Ectodermal Dysplasia-blindness Syndrome
- Ectodermal Dysplasia-cutaneous Syndactyly Syndrome
- Ectodermal Dysplasia-intellectual Disability-central Nervous System Malformation Syndrome
- Ectodermal Dysplasia-sensorineural Deafness Syndrome
- Ectodermal Dysplasia-skin Fragility Syndrome
- Ectodermal Dysplasia-syndactyly Syndrome
- Ectodermal Dysplasias
- Ectopia Cordis
- Ectopia Lentis-chorioretinal Dystrophy-myopia Syndrome
- Ectopic Aldosterone-producing Tumor
- Ectrodactyly Ectodermal Dysplasia Cleft Lip/palate
- Ectrodactyly-polydactyly Syndrome
- Edict Syndrome
- Edinburgh Malformation Syndrome
- Eec Syndrome
- Eem Syndrome
- Egf-related Primary Hypomagnesemia With Intellectual Disability
- Ehlers Danlos Syndromes
- Ehlers-danlos/osteogenesis Imperfecta Syndrome
- Ehrlichiosis
- Eiken Syndrome
- Eisenmenger Syndrome
- Elastoderma
- Elastofibroma Dorsi
- Elastoma
- Elastosis Perforans Serpiginosa
- Elephantiasis
- Ellis Van Creveld Syndrome
- Ellis-van Creveld Syndrome
- Emanuel Syndrome
- Embryonal Carcinoma
- Embryonal Carcinoma Of The Central Nervous System
- Emergency Treatment Of Rabies
- Emergent Management Of Myasthenia Gravis
- Emery Dreifuss Muscular Dystrophy
- Emery-dreifuss Muscular Dystrophy
- Emery-nelson Syndrome
- Emilin-1-related Connective Tissue Disease
- Emphysema, Congenital Lobar
- Empty Sella Syndrome
- En1-related Dorsoventral Syndrome
- Enamel-renal Syndrome
- Encephalitis Lethargica
- Encephalitis, Herpes Simplex
- Encephalitis, Japanese
- Encephalocele
- Encephalocraniocutaneous Lipomatosis
- Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
- Encephalopathy Due To Prosaposin Deficiency
- Encephalopathy Due To Sulfite Oxidase Deficiency
- Encephalopathy-hypertrophic Cardiomyopathy-renal Tubular Disease Syndrome
- Encircling Double Aortic Arch
- Endocardial Fibroelastosis
- Endocarditis, Infective
- Endocrine-cerebro-osteodysplasia Syndrome
- Endometrial Stromal Sarcoma
- Endometrioid Carcinoma Of Ovary
- Endomyocardial Fibrosis
- Endophthalmitis
- Endosteal Hyperostosis, Worth Type
- Endosteal Sclerosis-cerebellar Hypoplasia Syndrome
- Eng-strom Syndrome
- Enlarged Parietal Foramina
- Enteric Anendocrinosis
- Enterobiasis
- Enteropathy-associated T-cell Lymphoma
- Enthesitis-related Juvenile Idiopathic Arthritis
- Eosinophilia-myalgia Syndrome
- Eosinophilic Angiocentric Fibrosis
- Eosinophilic Colitis
- Eosinophilic Esophagitis
- Eosinophilic Fasciitis
- Eosinophilic Gastroenteritis
- Ependymoblastoma
- Ependymoma
- Ephb4-related Lymphatic-related Hydrops Fetalis
- Epiblepharon
- Epibulbar Lipodermoid-preauricular Appendage-polythelia Syndrome
- Epidemic Typhus
- Epidermal Nevus Syndrome
- Epidermal Nevus Syndromes
- Epidermolysis Bullosa
- Epidermolysis Bullosa Acquisita
- Epidermolysis Bullosa Simplex Due To Bp230 Deficiency
- Epidermolysis Bullosa Simplex Due To Exophilin 5 Deficiency
- Epidermolysis Bullosa Simplex With Anodontia/hypodontia
- Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
- Epidermolysis Bullosa Simplex With Mottled Pigmentation
- Epidermolysis Bullosa Simplex With Muscular Dystrophy
- Epidermolysis Bullosa Simplex With Pyloric Atresia
- Epidermolytic Ichthyosis
- Epidermolytic Ichthyosis (epidermolytic Hyperkeratosis Or Bullous Congenital Ichthyosiform Erythrode
- Epidermolytic Nevus
- Epidermolytic Palmoplantar Keratoderma
- Epignathus
- Epilepsy With Myoclonic Absences
- Epilepsy-microcephaly-skeletal Dysplasia Syndrome
- Epilepsy-telangiectasia Syndrome
- Epileptic Encephalopathy With Global Cerebral Demyelination
- Epiphyseal Dysplasia-hearing Loss-dysmorphism Syndrome
- Epiphyseal Stippling-osteoclastic Hyperplasia Syndrome
- Epiphysiolysis Of The Hip
- Episodic Ataxia
- Episodic Ataxia Type 1
- Episodic Ataxia Type 3
- Episodic Ataxia Type 4
- Episodic Ataxia Type 5
- Episodic Ataxia Type 6
- Episodic Ataxia Type 7
- Episodic Ataxia With Slurred Speech
- Epithelial Basement Membrane Dystrophy
- Epithelial Recurrent Erosion Dystrophy
- Epithelioid Hemangioendothelioma
- Epithelioid Sarcoma
- Epithelioid Trophoblastic Tumor
- Epitheliopathy, Acute Posterior Multifocal Placoid Pigment
- Epstein-barr Virus-associated Gastric Carcinoma
- Epstein-barr Virus-positive Diffuse Large B-cell Lymphoma Of The Elderly
- Erdheim Chester Disease
- Erdheim-chester Disease
- Ermine Phenotype
- Erosive Pustular Dermatosis Of The Scalp
- Erysipelas
- Erythema Elevatum Diutinum
- Erythema Multiforme
- Erythema Multiforme Major
- Erythema Palmare Hereditarium
- Erythermalgia
- Erythrocyte Galactose Epimerase Deficiency
- Erythroderma Desquamativum
- Erythrokeratoderma ''en Cocardes''
- Erythrokeratodermia Variabilis
- Erythrokeratodermia Variabilis Et Progressiva
- Erythrokeratodermia With Ataxia
- Erythrokeratodermia-cardiomyopathy Syndrome
- Erythromelalgia
- Erythropoietic Protoporphyria And X-linked Protoporphyria
- Erythropoietic Uroporphyria Associated With Myeloid Malignancy
- Esophageal Atresia And/or Tracheoesophageal Fistula
- Esophageal Cancer
- Esophageal Duplication Cyst
- Essential Fructosuria
- Essential Iris Atrophy
- Essential Thrombocythemia
- Essential Tremor
- Esthesioneuroblastoma
- Estrogen Resistance Syndrome
- Ethylene Glycol Poisoning
- Ethylmalonic Encephalopathy
- Eulenburg Disease
- Euryblepharon
- Euthyroid Dysprealbuminemic Hyperthyroxinemia
- Euthyroid Graves Orbitopathy
- Evans Syndrome
- Even-plus Syndrome
- Ewing Sarcoma
- Ewing Sarcoma Imaging
- Exercise-induced Hyperinsulinism
- Exercise-induced Malignant Hyperthermia
- Exfoliative Ichthyosis
- Exostoses-anetodermia-brachydactyly Type E Syndrome
- Exstrophy-epispadias Complex
- Extensive Peripapillary Myelinated Nerve Fibers
- Extensor Tendons Of Finger Anomalies
- External Auditory Canal Aplasia/hypoplasia
- External Auditory Canal Atresia-vertical Talus-hypertelorism Syndrome
- Extracranial Carotid Artery Aneurysm
- Extracutaneous Mastocytoma
- Extragonadal Germ Cell Tumors
- Extragonadal Germinoma
- Extragonadal Teratoma
- Extralobar Congenital Pulmonary Sequestration
- Extramammary Paget Disease
- Extramedullary Soft Tissue Plasmacytoma
- Extraneural Perineurioma
- Extranodal Nasal Nk/t Cell Lymphoma
- Extrapelvic Endometriosis
- Extraskeletal Myxoid Chondrosarcoma
- Extrasystoles-short Stature-hyperpigmentation-microcephaly Syndrome
- Extraventricular Neurocytoma
- Eye Defects-arachnodactyly-cardiopathy Syndrome
- Eyebrow Duplication-syndactyly Syndrome
View All
- F12-associated Cold Autoinflammatory Syndrome
- Fabry Disease
- Facial Dermoid Cyst
- Facial Diplegia With Paresthesias
- Facial Dysmorphism-anorexia-cachexia-eye And Skin Anomalies Syndrome
- Facial Dysmorphism-developmental Delay-behavioral Abnormalities Syndrome Due To 10p11.21p12.31 Micro
- Facial Dysmorphism-developmental Delay-behavioral Abnormalities Syndrome Due To Wac Point Mutation
- Facial Dysmorphism-hypertrichosis-epilepsy-intellectual Disability/developmental Delay-gingival Over
- Facial Dysmorphism-immunodeficiency-livedo-short Stature Syndrome
- Facial Dysmorphism-lens Dislocation-anterior Segment Abnormalities-spontaneous Filtering Blebs Syndr
- Facial Dysmorphism-macrocephaly-myopia-dandy-walker Malformation Syndrome
- Facial Dysmorphism-ocular Anomalies-osteopenia-intellectual Disability-dental Anomalies Syndrome
- Facial Dysmorphism-shawl Scrotum-joint Laxity Syndrome
- Facial Onset Sensory And Motor Neuronopathy
- Faciocardiorenal Syndrome
- Facioscapulohumeral Dystrophy
- Facioscapulohumeral Muscular Dystrophy
- Factor V Amsterdam Bleeding Disorder
- Factor V Atlanta Bleeding Disorder
- Factor V Short Isoforms-related Bleeding Disorder
- Factor Vii Deficiency
- Factor X Deficiency
- Factor Xi Deficiency
- Factor Xii Deficiency
- Factor Xiii Deficiency
- Fadd-related Immunodeficiency
- Fallot Complex-intellectual Disability-growth Delay Syndrome
- Familial Abdominal Aortic Aneurysm
- Familial Acute Necrotizing Encephalopathy
- Familial Adenomatous Polyposis
- Familial Adenomatous Polyposis Due To 5q22.2 Microdeletion
- Familial Adrenal Hypoplasia With Absent Pituitary Luteinizing Hormone
- Familial Advanced Sleep-phase Syndrome
- Familial Afibrinogenemia
- Familial Alzheimer-like Prion Disease
- Familial Anetoderma
- Familial Angiolipomatosis
- Familial Aortic Dissection
- Familial Apolipoprotein A5 Deficiency
- Familial Apolipoprotein C-ii Deficiency
- Familial Articular Hypermobility Syndrome
- Familial Atrial Myxoma
- Familial Atrial Tachyarrhythmia-infra-hisian Cardiac Conduction Disease
- Familial Atypical Multiple Mole Melanoma Syndrome
- Familial Avascular Necrosis Of Femoral Head
- Familial Benign Chronic Pemphigus
- Familial Benign Copper Deficiency
- Familial Benign Flecked Retina
- Familial Benign Pemphigus (hailey-hailey Disease)
- Familial Bicuspid Aortic Valve
- Familial Calcium Pyrophosphate Deposition
- Familial Caudal Dysgenesis
- Familial Cavitary Optic Disc Anomaly
- Familial Cerebral Cavernous Malformation
- Familial Cervical Artery Dissection
- Familial Chilblain Lupus
- Familial Chylomicronemia Syndrome
- Familial Clubfoot Due To 17q23.1q23.2 Microduplication
- Familial Clubfoot Due To 5q31 Microdeletion
- Familial Clubfoot Due To Pitx1 Point Mutation
- Familial Clubfoot With Or Without Associated Lower Limb Anomalies
- Familial Cold Autoinflammatory Syndrome
- Familial Cold Urticaria
- Familial Colorectal Cancer Type X
- Familial Congenital Mirror Movements
- Familial Congenital Nasolacrimal Duct Obstruction
- Familial Congenital Palsy Of Trochlear Nerve
- Familial Cortical Myoclonus
- Familial Cutaneous Collagenoma
- Familial Cutaneous Telangiectasia And Oropharyngeal Cancer Predisposition Syndrome
- Familial Cylindromatosis
- Familial Developmental Dysphasia
- Familial Digital Arthropathy-brachydactyly
- Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
- Familial Drusen
- Familial Dysautonomia
- Familial Dysautonomia, Type Ii
- Familial Dysfibrinogenemia
- Familial Dyskinesia And Facial Myokymia
- Familial Encephalopathy With Neuroserpin Inclusion Bodies
- Familial Eosinophilic Cellulitis
- Familial Episodic Pain Syndrome
- Familial Episodic Pain Syndrome With Predominantly Lower Limb Involvement
- Familial Episodic Pain Syndrome With Predominantly Upper Body Involvement
- Familial Expansile Osteolysis
- Familial Focal Epilepsy With Variable Foci
- Familial Gastric Type 1 Neuroendocrine Tumor
- Familial Generalized Lentiginosis
- Familial Gestational Hyperthyroidism
- Familial Gpihbp1 Deficiency
- Familial Hyperaldosteronism Type I
- Familial Hyperaldosteronism Type Ii
- Familial Hyperaldosteronism Type Iii
- Familial Hypercholanemia
- Familial Hypercholesterolemia
- Familial Hyperinflammatory Lymphoproliferative Immunodeficiency
- Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome
- Familial Hyperprolactinemia
- Familial Hyperthyroidism Due To Mutations In Tsh Receptor
- Familial Hypoaldosteronism
- Familial Hypocalciuric Hypercalcemia
- Familial Hypocalciuric Hypercalcemia Type 1
- Familial Hypocalciuric Hypercalcemia Type 2
- Familial Hypocalciuric Hypercalcemia Type 3
- Familial Hypodysfibrinogenemia
- Familial Hypofibrinogenemia
- Familial Hypophosphatemia
- Familial Idiopathic Dilatation Of The Right Atrium
- Familial Infantile Myoclonic Epilepsy
- Familial Intestinal Malrotation
- Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form
- Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form
- Familial Isolated Clinodactyly Of Fingers
- Familial Isolated Congenital Asplenia
- Familial Isolated Hypoparathyroidism
- Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
- Familial Isolated Hypoparathyroidism Due To Impaired Pth Secretion
- Familial Isolated Pituitary Adenoma
- Familial Isolated Trichomegaly
- Familial Juvenile Hypertrophy Of The Breast
- Familial Keratoacanthoma
- Familial Lcat Deficiency
- Familial Lipase Maturation Factor 1 Deficiency
- Familial Lipoprotein Lipase Deficiency
- Familial Male-limited Precocious Puberty
- Familial Median Cleft Of The Upper And Lower Lips
- Familial Mediterranean Fever
- Familial Medullary Thyroid Carcinoma
- Familial Mesial Temporal Lobe Epilepsy With Febrile Seizures
- Familial Mitral Valve Prolapse
- Familial Monosomy 7 Syndrome
- Familial Multinodular Goiter
- Familial Multiple Discoid Fibromas
- Familial Multiple Lipomatosis
- Familial Multiple Meningioma
- Familial Multiple Nevi Flammei
- Familial Multiple Trichoepithelioma
- Familial Nasal Acilia
- Familial Normophosphatemic Tumoral Calcinosis
- Familial Omphalocele Syndrome With Facial Dysmorphism
- Familial Or Sporadic Hemiplegic Migraine
- Familial Ossifying Fibroma
- Familial Osteochondritis Dissecans
- Familial Osteodysplasia, Anderson Type
- Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
- Familial Paroxysmal Ataxia
- Familial Partial Lipodystrophy
- Familial Partial Lipodystrophy, Dunnigan Type
- Familial Partial Lipodystrophy, Köbberling Type
- Familial Patent Arterial Duct
- Familial Platelet Disorder With Associated Myeloid Malignancy
- Familial Porencephaly
- Familial Porphyria Cutanea Tarda
- Familial Primary Localized Cutaneous Amyloidosis
- Familial Progressive Hyper- And Hypopigmentation
- Familial Progressive Hyperpigmentation
- Familial Progressive Retinal Dystrophy-iris Coloboma-congenital Cataract Syndrome
- Familial Pseudohyperkalemia
- Familial Pterygium Of The Conjunctiva
- Familial Reactive Perforating Collagenosis
- Familial Recurrent Peripheral Facial Palsy
- Familial Renal Glucosuria
- Familial Retinal Arterial Macroaneurysm
- Familial Rhabdoid Tumor
- Familial Scaphocephaly Syndrome, Mcgillivray Type
- Familial Scheuermann Disease
- Familial Schizencephaly
- Familial Short Qt Syndrome
- Familial Sick Sinus Syndrome
- Familial Spontaneous Pneumothorax
- Familial Steroid-resistant Nephrotic Syndrome With Adrenal Insufficiency
- Familial Steroid-resistant Nephrotic Syndrome With Sensorineural Deafness
- Familial Supernumerary Nipples
- Familial Syringomyelia
- Familial Temporal Lobe Epilepsy
- Familial Thrombocytosis
- Familial Thrombomodulin Anomalies
- Familial Thyroglossal Duct Cyst
- Familial Tumoral Calcinosis
- Familial Visceral Myopathy
- Fanconi Anemia
- Fanconi-bickel Syndrome
- Farber Disease
- Farmer's Lung Disease
- Fascioliasis
- Fastkd2-related Infantile Mitochondrial Encephalomyopathy
- Fatal Congenital Hypertrophic Cardiomyopathy Due To Glycogen Storage Disease
- Fatal Familial Insomnia
- Fatal Infantile Cytochrome C Oxidase Deficiency
- Fatal Infantile Hypertonic Myofibrillar Myopathy
- Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
- Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3
- Fatal Post-viral Neurodegenerative Disorder
- Fatco Syndrome
- Fatty Acid Hydroxylase-associated Neurodegeneration
- Fatty Acyl-coa Reductase 1 Deficiency
- Fbln1-related Developmental Delay-central Nervous System Anomaly-syndactyly Syndrome
- Feingold Syndrome Type 2
- Felty Syndrome
- Female Infertility Due To Zona Pellucida Defect
- Female Restricted Epilepsy With Intellectual Disability
- Femoral Agenesis/hypoplasia
- Femoral Facial Syndrome
- Femoral-facial Syndrome
- Femur-fibula-ulna Complex
- Ferro-cerebro-cutaneous Syndrome
- Ferroportin Disease
- Fetal Akinesia-cerebral And Retinal Hemorrhage Syndrome
- Fetal Alcohol Syndrome
- Fetal And Neonatal Alloimmune Thrombocytopenia
- Fetal Carbamazepine Syndrome
- Fetal Cytomegalovirus Syndrome
- Fetal Encasement Syndrome
- Fetal Gaucher Disease
- Fetal Hydantoin Syndrome
- Fetal Iodine Syndrome
- Fetal Lung Interstitial Tumor
- Fetal Methylmercury Syndrome
- Fetal Minoxidil Syndrome
- Fetal Parvovirus Syndrome
- Fetal Retinoid Syndrome
- Fetal Trimethadione Syndrome
- Fetal Valproate Syndrome
- Fever-associated Acute Infantile Liver Failure Syndrome
- Fg Syndrome Type 1
- Fgfr2-related Bent Bone Dysplasia
- Fibrillary Astrocytoma
- Fibroblastic Rheumatism
- Fibrochondrogenesis
- Fibrodysplasia Ossificans Progressiva
- Fibrohistiocytic Inflammatory Pseudotumor Of The Liver
- Fibrolamellar Carcinoma
- Fibrolamellar Hepatocellular Carcinoma Imaging
- Fibromuscular Dysplasia
- Fibromuscular Dysplasia Imaging And Diagnosis
- Fibronectin Glomerulopathy
- Fibrosarcoma
- Fibrosing Mediastinitis
- Fibrosis-neurodegeneration-cerebral Angiomatosis Syndrome
- Fibrous Dysplasia
- Fibrous Dysplasia Imaging
- Fibrous Dysplasia Of Bone
- Fibrous Dysplasia Pathology
- Fibular Aplasia-complex Brachydactyly Syndrome
- Fibular Aplasia-ectrodactyly Syndrome
- Fibular Dimelia-diplopodia Syndrome
- Fibular Hemimelia
- Fibulo-ulnar Hypoplasia-renal Anomalies Syndrome
- Filariasis
- Filippi Syndrome
- Finger Hyperphalangy-toe Anomalies-severe Pectus Excavatum Syndrome
- Fingerprint Body Myopathy
- Finnish Upper Limb-onset Distal Myopathy
- First Branchial Cleft Anomaly
- Fish-eye Disease
- Fitz Hugh Curtis Syndrome
- Fixed Drug Eruption
- Fixed Subaortic Stenosis
- Fkrp-related Limb-girdle Muscular Dystrophy R9
- Flat Face-microstomia-ear Anomaly Syndrome
- Fleck Corneal Dystrophy
- Flna-related X-linked Myxomatous Valvular Dysplasia
- Floating Harbor Syndrome
- Floating-harbor Syndrome
- Florid Cemento-osseous Dysplasia
- Flotch Syndrome
- Flynn-aird Syndrome
- Focal Acral Hyperkeratosis
- Focal Dermal Hypoplasia
- Focal Dermal Hypoplasia Syndrome
- Focal Epilepsy-intellectual Disability-cerebro-cerebellar Malformation
- Focal Facial Dermal Dysplasia
- Focal Facial Dermal Dysplasia Type I
- Focal Facial Dermal Dysplasia Type Ii
- Focal Facial Dermal Dysplasia Type Iii
- Focal Facial Dermal Dysplasia Type Iv
- Focal Myositis
- Focal Palmoplantar And Gingival Keratoderma
- Focal Palmoplantar Keratoderma With Joint Keratoses
- Focal Segmental Glomerulosclerosis
- Focal Stiff Limb Syndrome
- Foix-alajouanine Syndrome
- Foix-chavany-marie Syndrome
- Folinic Acid-responsive Seizures
- Follicular Cholangitis And Pancreatitis
- Follicular Dendritic Cell Sarcoma
- Follicular Lymphoma
- Follicular Thyroid Carcinoma
- Folliculotropic Mycosis Fungoides
- Food Protein-induced Enterocolitis Syndrome
- Foodborne Botulism
- Formaldehyde Poisoning
- Formiminoglutamic Aciduria
- Fountain Syndrome
- Fournier Gangrene
- Fourth Branchial Cleft Anomaly
- Foveal Hypoplasia-optic Nerve Decussation Defect-anterior Segment Dysgenesis Syndrome
- Foveal Hypoplasia-presenile Cataract Syndrome
- Fowler Urethral Sphincter Dysfunction Syndrome
- Fowler Vasculopaty
- Fox Fordyce Disease
- Foxg1 Syndrome
- Foxg1 Syndrome Due To 14q12 Microdeletion
- Foxg1 Syndrome Due To Intragenic Alteration
- Fragile X Syndrome
- Fragile X-associated Tremor/ataxia Syndrome
- Frank-ter Haar Syndrome
- Fraser Syndrome
- Frasier Syndrome
- Fraxe Intellectual Disability
- Fraxf Syndrome
- Free Sialic Acid Storage Disease
- Free Sialic Acid Storage Disease, Infantile Form
- Freeman Sheldon Syndrome
- Freeman-sheldon Syndrome
- Frey Syndrome
- Fried Syndrome
- Fried's Tooth And Nail Syndrome
- Friedreichs Ataxia
- Froelich Syndrome
- Frontal Encephalocele
- Frontal Fibrosing Alopecia
- Frontofacionasal Dysplasia
- Frontometaphyseal Dysplasia
- Frontonasal Arteriovenous Malformation
- Frontonasal Dysplasia
- Frontonasal Dysplasia-alopecia-genital Anomalies Syndrome
- Frontonasal Dysplasia-bifid Nose-upper Limb Anomalies Syndrome
- Frontonasal Dysplasia-severe Microphthalmia-severe Facial Clefting Syndrome
- Frontorhiny
- Frontotemporal Degeneration
- Fructose Intolerance, Hereditary
- Fructose-1,6-bisphosphatase Deficiency
- Fryns Syndrome
- Fryns-smeets-thiry Syndrome
- Fth1-related Iron Overload
- Fuchs Heterochromic Iridocyclitis
- Fucosidosis
- Fuhrmann Syndrome
- Fukuhara Syndrome
- Fukutin-related Limb-girdle Muscular Dystrophy R13
- Fukuyama Type Congenital Muscular Dystrophy
- Fulminant Viral Hepatitis
- Fumaric Aciduria
- Functional Neurological Disorder
- Functioning Gonadotropic Adenoma
- Fundus Albipunctatus
- Fundus Pulverulentus
- Fungal Keratitis
- Fungal Myositis
- Furuncular Myiasis
- Furuncular Myiasis Due To Cordylobia Anthropophaga
- Furuncular Myiasis Due To Cordylobia Rodhaini
- Furuncular Myiasis Due To Dermatobia Hominis
- Fusariosis
- Fused Mandibular Incisors
View All
- Gabriele-de Vries Syndrome
- Gaisböck Syndrome
- Galactokinase Deficiency
- Galactose Epimerase Deficiency
- Galactose Mutarotase Deficiency
- Galactose-1-phosphate Uridyltransferase Deficiency (galactosemia)
- Galactosemia
- Galactosialidosis
- Gallbladder Neuroendocrine Tumor
- Galloway Mowat Syndrome
- Galloway Syndrome
- Galloway-mowat Syndrome
- Gamma-aminobutyric Acid Transaminase Deficiency
- Gamma-glutamyl Transpeptidase Deficiency
- Gamma-heavy Chain Disease
- Gangliocytoma
- Ganglioglioma
- Ganglioneuroblastoma
- Ganglioneuroma
- Gangliosidosis Gm1 Type 1
- Gapo Syndrome
- Gardner Syndrome
- Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
- Gastric Linitis Plastica
- Gastritis, Chronic, Erosive
- Gastritis, Giant Hypertrophic
- Gastrocutaneous Syndrome
- Gastrointestinal Stromal Tumor
- Gastrointestinal Stromal Tumors
- Gastrointestinal Stromal Tumors (leiomyoma/leiomyosarcoma) Imaging
- Gastroparesis
- Gastroschisis
- Gaucher Disease
- Gaucher Disease Type 1
- Gaucher Disease Type 2
- Gaucher Disease Type 3
- Gaucher Disease-ophthalmoplegia-cardiovascular Calcification Syndrome
- Gcgr-related Hyperglucagonemia
- Gelatinous Drop-like Corneal Dystrophy
- Geleophysic Dysplasia
- Gemignani Syndrome
- Gemistocytic Astrocytoma
- General Myoclonus
- Generalized Arterial Calcification Of Infancy
- Generalized Basaloid Follicular Hamartoma Syndrome
- Generalized Epilepsy-paroxysmal Dyskinesia Syndrome
- Generalized Eruptive Histiocytosis
- Generalized Eruptive Keratoacanthoma
- Generalized Essential Telangiectasia
- Generalized Galactose Epimerase Deficiency
- Generalized Juvenile Polyposis/juvenile Polyposis Coli
- Generalized Peeling Skin Syndrome
- Generalized Pseudohypoaldosteronism Type 1
- Generalized Pustular Psoriasis
- Genetic Hyperferritinemia Without Iron Overload
- Genetic Non-syndromic Obesity
- Genetic Transient Congenital Hypothyroidism
- Genetics Of Achondroplasia
- Genetics Of Glycogen-storage Disease Type Ii (pompe Disease)
- Genetics Of Propionic Acidemia (propionyl Coa Carboxylase Deficiency)
- Genetics Of Rubinstein-taybi Syndrome
- Genetics Of Sjogren-larsson Syndrome
- Genetics Of Tarui Disease (glycogen-storage Disease Type Vii Or Phosphofructokinase Deficiency)
- Genetics Of Von Gierke Disease (glycogen-storage Disease Type 1)
- Genetics Of Waardenburg Syndrome
- Genitopalatocardiac Syndrome
- Genitopatellar Syndrome
- Genochondromatosis Type 1
- Genochondromatosis Type 2
- Geographic Tongue
- German Syndrome
- Germinoma Of The Central Nervous System
- Geroderma Osteodysplastica
- Gerstmann Syndrome
- Gerstmann-straussler-scheinker Syndrome
- Gerstmann-sträussler-scheinker Disease
- Gestational Choriocarcinoma
- Gestational Trophoblastic Disease
- Ghosal Hematodiaphyseal Dysplasia
- Gianotti Crosti Syndrome
- Giant Adenofibroma Of The Breast
- Giant Axonal Disease
- Giant Cell Arteritis
- Giant Cell Glioblastoma
- Giant Cell Myocarditis
- Giant Cell Tumor Of Bone
- Giant Congenital Melanocytic Nevus
- Gigantism And Acromegaly
- Gilbert Syndrome
- Gingival Fibromatosis-facial Dysmorphism Syndrome
- Gingival Fibromatosis-hypertrichosis Syndrome
- Gingival Fibromatosis-progressive Deafness Syndrome
- Gitelman Syndrome
- Gitelman-like Kidney Tubulopathy Due To Mitochondrial Dna Mutation
- Gjc2-related Late-onset Primary Lymphedema
- Glanzmann Thrombasthenia
- Glassy Cell Carcinoma Of The Cervix Uteri
- Glaucoma Secondary To Spherophakia/ectopia Lentis And Megalocornea
- Glaucoma-ectopia Lentis-microspherophakia-stiff Joints-short Stature Syndrome
- Glaucoma-sleep Apnea Syndrome
- Glioblastoma
- Glioependymal/ependymal Cyst
- Glioma
- Gliomatosis Cerebri
- Gliosarcoma
- Global Developmental Delay-alopecia-macrocephaly-facial Dysmorphism-structural Brain Anomalies Syndr
- Global Developmental Delay-lung Cysts-overgrowth-wilms Tumor Syndrome
- Global Developmental Delay-neuro-ophthalmological Abnormalities-seizures-intellectual Disability Syn
- Global Developmental Delay-osteopenia-ectodermal Defect Syndrome
- Global Developmental Delay-visual Anomalies-progressive Cerebellar Atrophy-truncal Hypotonia Syndrom
- Glomus Tumor
- Glomuvenous Malformation
- Glossopalatine Ankylosis
- Glossopharyngeal Neuralgia
- Glucagonoma
- Glucose Transporter Type 1 Deficiency Syndrome
- Glucose-6-phosphate Dehydrogenase Deficiency
- Glucose-galactose Malabsorption
- Glutamate-cysteine Ligase Deficiency
- Glutaric Acidemia Type 3
- Glutaric Aciduria Type I
- Glutaric Aciduria Type Ii
- Glutaryl-coa Dehydrogenase Deficiency
- Glutathione Synthetase Deficiency
- Glutathione Synthetase Deficiency With 5-oxoprolinuria
- Glutathione Synthetase Deficiency Without 5-oxoprolinuria
- Glycerol Kinase Deficiency, Adult Form
- Glycerol Kinase Deficiency, Juvenile Form
- Glycine Encephalopathy
- Glycogen Storage Disease Due To Aldolase A Deficiency
- Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
- Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
- Glycogen Storage Disease Due To Lactate Dehydrogenase H-subunit Deficiency
- Glycogen Storage Disease Due To Lactate Dehydrogenase M-subunit Deficiency
- Glycogen Storage Disease Due To Lamp-2 Deficiency
- Glycogen Storage Disease Due To Muscle And Heart Glycogen Synthase Deficiency
- Glycogen Storage Disease Due To Muscle Beta-enolase Deficiency
- Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
- Glycogen Storage Disease Due To Phosphoglycerate Mutase Deficiency
- Glycogen Storage Disease Type I
- Glycogen Storage Disease Type Iii
- Glycogen Storage Disease Type Ix
- Glycogen Storage Disease Type V
- Glycogen Storage Disease Type Vii
- Glycogen Storage Diseases Types I-vii
- Gm1 Gangliosidosis
- Gm1 Gangliosidosis Type 1
- Gm1 Gangliosidosis Type 2
- Gm1 Gangliosidosis Type 3
- Gm2 Gangliosidosis, Ab Variant
- Gm3 Synthase Deficiency
- Gmppb-related Limb-girdle Muscular Dystrophy R19
- Gms Syndrome
- Gnao1-related Developmental Delay-seizures-movement Disorder Spectrum
- Gnathodiaphyseal Dysplasia
- Gnb5-related Intellectual Disability-cardiac Arrhythmia Syndrome
- Gne Myopathy
- Goblet Cell Carcinoid
- Goblet Cell Carcinoma
- Goldberg-shprintzen Megacolon Syndrome
- Goldmann-favre Syndrome
- Gollop-wolfgang Complex
- Gómez-lópez-hernández Syndrome
- Gonadoblastoma
- Gonococcal Conjunctivitis
- Good Syndrome
- Goodman Syndrome
- Goodpasture Syndrome
- Gordon Syndrome
- Gorham-stout Disease
- Gorlin Syndrome
- Gorlin-chaudhry-moss Syndrome
- Gottron Syndrome
- Gracile Syndrome
- Graft Versus Host Disease
- Graham Little-piccardi-lassueur Syndrome
- Grange Syndrome
- Grant Syndrome
- Granular Corneal Dystrophy Type I
- Granular Corneal Dystrophy Type Ii
- Granuloma Annulare
- Granuloma Faciale
- Granulomatosis With Polyangiitis
- Granulomatosis With Polyangiitis (gpa, Formerly Wegener Granulomatosis)
- Granulomatous Mastitis
- Granulomatous Slack Skin
- Graves Disease
- Gray Platelet Syndrome
- Grayson-wilbrandt Corneal Dystrophy
- Greenberg Dysplasia
- Greig Cephalopolysyndactyly Syndrome
- Grfoma
- Grin2b-related Developmental Delay, Intellectual Disability And Autism Spectrum Disorder
- Griscelli Syndrome
- Griscelli Syndrome Type 1
- Griscelli Syndrome Type 2
- Griscelli Syndrome Type 3
- Grovers Disease
- Growing Teratoma Syndrome
- Growth And Developmental Delay-hypotonia-vision Impairment-lactic Acidosis Syndrome
- Growth Delay Due To Insulin-like Growth Factor I Resistance
- Growth Delay Due To Insulin-like Growth Factor Type 1 Deficiency
- Growth Delay-hydrocephaly-lung Hypoplasia Syndrome
- Growth Delay-intellectual Disability-hepatopathy Syndrome
- Growth Hormone Deficiency
- Growth Hormone Insensitivity
- Growth Hormone Resistance
- Growth Retardation-mild Developmental Delay-chronic Hepatitis Syndrome
- Grubben-de Cock-borghgraef Syndrome
- Gtp Cyclohydrolase I Deficiency
- Guanidinoacetate Methyltransferase Deficiency
- Guillain-barre Syndrome
- Guttmacher Syndrome
- Gynandroblastoma
- Gyrate Atrophy Of Choroid And Retina
View All
- H Syndrome
- Haberland Syndrome (encephalocraniocutaneous Lipomatosis)
- Haddad Syndrome
- Hailey-hailey Disease
- Haim-munk Syndrome
- Hairy Cell Leukemia
- Hairy Cell Leukemia Variant
- Hajdu Cheney Syndrome
- Hajdu-cheney Syndrome
- Hall-riggs Syndrome
- Hallermann Streiff Syndrome
- Hallermann-streiff Syndrome
- Hallermann-streiff-like Syndrome
- Hallux Varus-preaxial Polysyndactyly Syndrome
- Hamel Cerebro-palato-cardiac Syndrome
- Hanac Syndrome
- Hand-foot-genital Syndrome
- Hanhart Syndrome
- Hansen's Disease
- Hantavirus Cardiopulmonary Syndrome (hcps)
- Hantavirus Pulmonary Syndrome
- Harada Syndrome
- Harlequin Ichthyosis
- Harlequin Syndrome
- Harrod Syndrome
- Hartnup Disease
- Hartsfield Syndrome
- Hashimoto Encephalopathy
- Hawkinsinuria
- Hb Bart's Hydrops Fetalis
- Hearing Loss-familial Salivary Gland Insensitivity To Aldosterone Syndrome
- Heart Defect-tongue Hamartoma-polysyndactyly Syndrome
- Heart Defects-limb Shortening Syndrome
- Heart-hand Syndrome Type 2
- Heart-hand Syndrome Type 3
- Heart-hand Syndrome, Slovenian Type
- Heavy Chain Deposition Disease
- Heavy Chain Disease
- Heavy Metal Poisoning
- Hec Syndrome
- Heiner Syndrome
- Helicoid Peripapillary Chorioretinal Degeneration
- Hellp Syndrome
- Hemangioblastoma
- Heme Oxygenase-1 Deficiency
- Hemicrania Continua
- Hemidystonia-hemiatrophy Syndrome
- Hemifacial Hyperplasia
- Hemifacial Myohyperplasia
- Hemifacial Spasm
- Hemihyperplasia-multiple Lipomatosis Syndrome
- Hemimegalencephaly
- Hemiparkinsonism-hemiatrophy Syndrome
- Hemiplegic Migraine
- Hemochromatosis Type 2
- Hemochromatosis Type 3
- Hemochromatosis Type 4
- Hemoglobin C Disease
- Hemoglobin C-beta-thalassemia Syndrome
- Hemoglobin D Disease
- Hemoglobin E Disease
- Hemoglobin E-beta-thalassemia Syndrome
- Hemoglobin H Disease
- Hemoglobin Lepore-beta-thalassemia Syndrome
- Hemoglobin M Disease
- Hemoglobinopathy Toms River
- Hemolytic Anemia Due To Adenylate Kinase Deficiency
- Hemolytic Anemia Due To Diphosphoglycerate Mutase Deficiency
- Hemolytic Anemia Due To Erythrocyte Adenosine Deaminase Overproduction
- Hemolytic Anemia Due To Glucophosphate Isomerase Deficiency
- Hemolytic Anemia Due To Glutathione Reductase Deficiency
- Hemolytic Anemia Due To Pyrimidine 5' Nucleotidase Deficiency
- Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
- Hemolytic Disease Of The Newborn With Kell Alloimmunization
- Hemolytic Uremic Syndrome With Dgke Deficiency
- Hemophagocytic Lymphohistiocytosis
- Hemophagocytic Syndrome Associated With An Infection
- Hemophilia A
- Hemophilia A (factor Viii Deficiency)
- Hemophilia B
- Hemophilia B (factor Ix Deficiency)
- Hemophilia B Leyden
- Hemorrhagic Disease Due To Alpha-1-antitrypsin Pittsburgh Mutation
- Hendra Virus Infection
- Hennekam Syndrome
- Hennekam-beemer Syndrome
- Henoch-schönlein Purpura
- Heparin-induced Thrombocytopenia
- Hepatic Cystic Hamartoma
- Hepatic Encephalopathy
- Hepatic Fibrosis-renal Cysts-intellectual Disability Syndrome
- Hepatic Veno-occlusive Disease
- Hepatic Veno-occlusive Disease-immunodeficiency Syndrome
- Hepatitis B Reinfection Following Liver Transplantation
- Hepatitis Delta
- Hepatocellular Adenoma
- Hepatocellular Carcinoma
- Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1
- Hepatoerythropoietic Porphyria
- Hepatoportal Sclerosis
- Hepatopulmonary Syndrome
- Hepatorenal Syndrome
- Hepatosplenic T-cell Lymphoma
- Hereditary Acrokeratotic Poikiloderma
- Hereditary Amyloidosis With Primary Renal Involvement
- Hereditary Angioedema
- Hereditary Angioedema Type 1
- Hereditary Angioedema Type 2
- Hereditary Angioedema With C1inh Deficiency
- Hereditary Angioedema With Normal C1inh
- Hereditary Angioedema With Normal C1inh Not Related To F12 Or Plg Variant
- Hereditary Arterial And Articular Multiple Calcification Syndrome
- Hereditary Benign Intraepithelial Dyskeratosis
- Hereditary Breast And Ovarian Cancer Syndrome
- Hereditary Breast Cancer
- Hereditary Bullous Dystrophy, Macular Type
- Hereditary Chronic Pancreatitis
- Hereditary Clear Cell Renal Cell Carcinoma
- Hereditary Combined Deficiency Of Vitamin K-dependent Clotting Factors
- Hereditary Continuous Muscle Fiber Activity
- Hereditary Coproporphyria
- Hereditary Cryohydrocytosis With Normal Stomatin
- Hereditary Cryohydrocytosis With Reduced Stomatin
- Hereditary Diffuse Gastric Cancer
- Hereditary Elliptocytosis
- Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome
- Hereditary Folate Malabsorption
- Hereditary Geniospasm
- Hereditary Hemorrhagic Telangiectasia
- Hereditary Hypercarotenemia And Vitamin A Deficiency
- Hereditary Hyperekplexia
- Hereditary Hyperferritinemia-cataract Syndrome
- Hereditary Hyperphosphatasia
- Hereditary Hypophosphatemic Rickets With Hypercalciuria
- Hereditary Hypotrichosis With Recurrent Skin Vesicles
- Hereditary Inclusion Body Myopathy Type 4
- Hereditary Inclusion Body Myopathy-joint Contractures-ophthalmoplegia Syndrome
- Hereditary Isolated Aplastic Anemia
- Hereditary Leiomyomatosis And Renal Cell Carcinoma
- Hereditary Lymphedema
- Hereditary Methemoglobinemia
- Hereditary Mixed Polyposis Syndrome
- Hereditary Motor And Sensory Neuropathy Type 5
- Hereditary Motor And Sensory Neuropathy Type 6
- Hereditary Motor And Sensory Neuropathy With Acrodystrophy
- Hereditary Motor And Sensory Neuropathy, Okinawa Type
- Hereditary Motor Sensory Neuropathy (hmsn I)
- Hereditary Mucoepithelial Dysplasia
- Hereditary Multiple Osteochondromas
- Hereditary Myopathy With Early Respiratory Failure
- Hereditary Myopathy With Lactic Acidosis Due To Iscu Deficiency
- Hereditary Neuralgic Amyotrophy
- Hereditary Neurocutaneous Malformation
- Hereditary Neuroendocrine Tumor Of Small Intestine
- Hereditary Neuropathy With Liability To Pressure Palsies
- Hereditary Neutrophilia
- Hereditary Nonpolyposis Colorectal Cancer
- Hereditary North American Indian Childhood Cirrhosis
- Hereditary Orotic Aciduria
- Hereditary Painful Callosities
- Hereditary Palmoplantar Keratoderma, Gamborg-nielsen Type
- Hereditary Papillary Renal Cell Carcinoma
- Hereditary Pediatric Behçet-like Disease
- Hereditary Persistence Of Alpha-fetoprotein
- Hereditary Persistence Of Fetal Hemoglobin-intellectual Disability Syndrome
- Hereditary Progressive Mucinous Histiocytosis
- Hereditary Pulmonary Alveolar Proteinosis
- Hereditary Renal Hypouricemia
- Hereditary Retinoblastoma
- Hereditary Sclerosing Poikiloderma, Weary Type
- Hereditary Sensorimotor Neuropathy With Hyperelastic Skin
- Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
- Hereditary Sensory And Autonomic Neuropathy Iv (hsn Iv, Hsan Iv)
- Hereditary Sensory And Autonomic Neuropathy Type 1
- Hereditary Sensory And Autonomic Neuropathy Type 1b
- Hereditary Sensory And Autonomic Neuropathy Type 1e
- Hereditary Sensory And Autonomic Neuropathy Type 2
- Hereditary Sensory And Autonomic Neuropathy Type 4
- Hereditary Sensory And Autonomic Neuropathy Type 5
- Hereditary Sensory And Autonomic Neuropathy Type 6
- Hereditary Sensory And Autonomic Neuropathy Type 8
- Hereditary Sensory And Autonomic Neuropathy Type Ii
- Hereditary Sensory And Autonomic Neuropathy Type Iv
- Hereditary Sensory And Autonomic Neuropathy With Deafness And Global Delay
- Hereditary Sensory And Autonomic Neuropathy, Type Ii (hsan Ii)
- Hereditary Sensory Neuropathy Type I
- Hereditary Sensory Neuropathy Type Iii (hsn-iii, Hsan-iii)
- Hereditary Sensory Neuropathy-deafness-dementia Syndrome
- Hereditary Site-specific Ovarian Cancer Syndrome
- Hereditary Spastic Paraplegia
- Hereditary Spherocytosis
- Hereditary Thermosensitive Neuropathy
- Hereditary Thrombocytopenia With Early-onset Myelofibrosis
- Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
- Hereditary Thrombophilia Due To Congenital Histidine-rich (poly-l) Glycoprotein Deficiency
- Hereditary Xanthinuria
- Heritable Pulmonary Arterial Hypertension
- Hermansky Pudlak Syndrome
- Hermansky-pudlak Syndrome
- Hermansky-pudlak Syndrome Due To Ap-3 Deficiency
- Hermansky-pudlak Syndrome Due To Bloc-1 Deficiency
- Hermansky-pudlak Syndrome Due To Bloc-2 Deficiency
- Hermansky-pudlak Syndrome Due To Bloc-3 Deficiency
- Hernández-aguirre Negrete Syndrome
- Herpes Simplex Encephalitis
- Herpes Simplex Virus Stromal Keratitis
- Herpes, Neonatal
- Herpetiform Pemphigus
- Hers Disease
- Hhv-8-associated Multicentric Castleman Disease
- Hiccups, Chronic
- Hidradenitis Suppurativa
- Hidrotic Ectodermal Dysplasia
- Hidrotic Ectodermal Dysplasia, Christianson-fourie Type
- Hidrotic Ectodermal Dysplasia, Halal Type
- High Altitude Pulmonary Edema
- High Bone Mass Osteogenesis Imperfecta
- High Grade B-cell Lymphoma With Myc And/ Or Bcl2 And/or Bcl6 Rearrangement
- High Myopia-sensorineural Deafness Syndrome
- High-grade Dysplasia In Patients With Barrett Esophagus
- High-grade Neuroendocrine Carcinoma Of The Cervix Uteri
- High-grade Neuroendocrine Carcinoma Of The Corpus Uteri
- Hinman Syndrome
- Hip Dysplasia, Beukes Type
- Hirschsprung Disease
- Hirschsprung Disease-deafness-polydactyly Syndrome
- Hirschsprung Disease-ganglioneuroblastoma Syndrome
- Hirschsprung Disease-nail Hypoplasia-dysmorphism Syndrome
- Hirschsprung Disease-type D Brachydactyly Syndrome
- His Bundle Tachycardia
- Histidinemia
- Histidinuria-renal Tubular Defect Syndrome
- Histiocytic Sarcoma
- Histiocytoid Cardiomyopathy
- Histoplasmosis
- Hiv-associated Cancer
- Hnrnpdl-related Limb-girdle Muscular Dystrophy D3
- Hodgkins Disease
- Holmes-adie Syndrome
- Holocarboxylase Synthetase Deficiency
- Holoprosencephaly
- Holoprosencephaly-caudal Dysgenesis Syndrome
- Holoprosencephaly-craniosynostosis Syndrome
- Holoprosencephaly-postaxial Polydactyly Syndrome
- Holoprosencephaly-radial Heart Renal Anomalies Syndrome
- Holt Oram Syndrome
- Holt-oram Syndrome
- Holzgreve Syndrome
- Homocystinuria Due To Cystathionine Beta-synthase Deficiency
- Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
- Homocystinuria Without Methylmalonic Aciduria
- Homozygous Familial Hypercholesterolemia
- Horizontal Gaze Palsy With Progressive Scoliosis
- Horners Syndrome
- Hot Water Reflex Epilepsy
- House Allergic Alveolitis
- Hsd10 Disease
- Hsd10 Disease, Atypical Type
- Hsd10 Disease, Neonatal Type
- Htlv Type I And Type Ii
- Htra1-related Autosomal Dominant Cerebral Small Vessel Disease
- Hughes-stovin Syndrome
- Human Granulocytic Ehrlichiosis (hge)
- Human Hoxa1 Syndromes
- Human Infection By Orthopoxvirus
- Human Monocytic Ehrlichiosis (hme)
- Humeral Agenesis/hypoplasia
- Humero-radial Synostosis
- Humero-radio-ulnar Synostosis
- Humero-ulnar Synostosis
- Humero-ulnar Synostosis, Bilateral
- Humero-ulnar Synostosis, Unilateral
- Humerus Trochlea Aplasia
- Hunter Syndrome (mucopolysaccharidosis Type Ii)
- Hunter-mcalpine Syndrome
- Huntington Disease
- Huntington Disease Dementia
- Huntington Disease-like 1
- Huntington Disease-like 2
- Huntington Disease-like 3
- Huntington Disease-like Syndrome Due To C9orf72 Expansions
- Huntingtons Disease
- Huriez Syndrome
- Hurler Syndrome, Hurler-scheie Syndrome, And Scheie Syndrome (mucopolysaccharidosis Type I)
- Hurler-scheie Syndrome
- Hurthle Cell Carcinoma
- Hutchinson-gilford Progeria
- Hutchinson-gilford Progeria Syndrome
- Hyaline Body Myopathy
- Hyaline Fibromatosis Syndrome
- Hyaluronidase Deficiency
- Hydatidiform Mole
- Hydranencephaly
- Hydroa Vacciniforme
- Hydroa Vacciniforme-like Lymphoma
- Hydrocephalus
- Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
- Hydrocephalus-blue Sclerae-nephropathy Syndrome
- Hydrocephalus-costovertebral Dysplasia-sprengel Anomaly Syndrome
- Hydrocephalus-obesity-hypogonadism Syndrome
- Hydrocephaly-cerebellar Agenesis Syndrome
- Hydrocephaly-low Insertion Umbilicus Syndrome
- Hydrocephaly-tall Stature-joint Laxity Syndrome
- Hydrolethalus
- Hydrops Fetalis
- Hydrops-lactic Acidosis-sideroblastic Anemia-multisystemic Failure Syndrome
- Hydroxykynureninuria
- Hymenolepiasis
- Hyper Igm Syndromes
- Hyper-beta-alaninemia
- Hyper-igm Syndrome Type 2
- Hyper-igm Syndrome Type 3
- Hyper-igm Syndrome Type 4
- Hyper-igm Syndrome Type 5
- Hyper-igm Syndrome With Susceptibility To Opportunistic Infections
- Hyper-igm Syndrome Without Susceptibility To Opportunistic Infections
- Hyperammonemia Due To N-acetylglutamate Synthase Deficiency
- Hyperammonemic Encephalopathy Due To Carbonic Anhydrase Va Deficiency
- Hyperandrogenism Due To Cortisone Reductase Deficiency
- Hyperbiliverdinemia
- Hypercholesterolemia Due To Cholesterol 7alpha-hydroxylase Deficiency
- Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency
- Hyperekplexia
- Hyperekplexia-epilepsy Syndrome
- Hyperemesis Gravidarum
- Hyperferritinemia Cataract Syndrome
- Hypergonadotropic Hypogonadism-cataract Syndrome
- Hyperhidrosis, Primary
- Hyperimmunoglobulinemia D With Periodic Fever
- Hyperinsulinism Due To Glucokinase Deficiency
- Hyperinsulinism Due To Hnf1a Deficiency
- Hyperinsulinism Due To Hnf4a Deficiency
- Hyperinsulinism Due To Insr Deficiency
- Hyperinsulinism Due To Short Chain 3-hydroxylacyl-coa Dehydrogenase Deficiency
- Hyperinsulinism Due To Ucp2 Deficiency
- Hyperinsulinism-hyperammonemia Syndrome
- Hyperkalemic Periodic Paralysis
- Hyperkeratosis Lenticularis Perstans
- Hyperkeratosis-hyperpigmentation Syndrome
- Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
- Hyperlipoproteinemia Type Iii
- Hyperlysinemia
- Hypermethioninemia Due To Glycine N-methyltransferase Deficiency
- Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency
- Hypermobile Ehlers-danlos Syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome
- Hyperostosis Corticalis Generalisata
- Hyperostosis Cranialis Interna
- Hyperostosis Frontalis Interna
- Hyperparathyroidism-jaw Tumor Syndrome
- Hyperphalangy
- Hyperphenylalaninemia Due To Dnajc12 Deficiency
- Hyperphenylalaninemia Due To Tetrahydrobiopterin Deficiency
- Hyperprolinemia Type 1
- Hyperprolinemia Type 2
- Hyperprolinemia Type I
- Hyperprolinemia Type Ii
- Hypertelorism-hypospadias-polysyndactyly Syndrome
- Hypertelorism-microtia-facial Clefting Syndrome
- Hypertelorism-preauricular Sinus-punctual Pits-deafness Syndrome
- Hypertension Due To Gain-of-function Mutations In The Mineralocorticoid Receptor
- Hypertrichosis Cubiti
- Hypertrichosis Lanuginosa Congenita
- Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
- Hypertrophic Or Verrucous Lupus Erythematosus
- Hypertryptophanemia
- Hyperuricemia-pulmonary Hypertension-renal Failure-alkalosis Syndrome
- Hyperzincemia And Hypercalprotectinemia
- Hypnic Headache
- Hypo- And Hypermelanotic Cutaneous Macules-retarded Growth-intellectual Disability Syndrome
- Hypocalcemic Vitamin D-dependent Rickets
- Hypocalcemic Vitamin D-resistant Rickets
- Hypocalcified Amelogenesis Imperfecta
- Hypochondrogenesis
- Hypochondroplasia
- Hypocomplementemic Urticarial Vasculitis
- Hypodontia-dysplasia Of Nails Syndrome
- Hypoglossia-hypodactyly Syndrome
- Hypogonadism-mitral Valve Prolapse-intellectual Disability Syndrome
- Hypogonadotropic Hypogonadism-frontoparietal Alopecia Syndrome
- Hypogonadotropic Hypogonadism-retinitis Pigmentosa Syndrome
- Hypogonadotropic Hypogonadism-severe Microcephaly-sensorineural Hearing Loss-dysmorphism Syndrome
- Hypohidrosis-electrolyte Imbalance-lacrimal Gland Dysfunction-ichthyosis-xerostomia Syndrome
- Hypohidrosis-enamel Hypoplasia-palmoplantar Keratoderma-intellectual Disability Syndrome
- Hypohidrotic Ectodermal Dysplasia
- Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
- Hypohidrotic Ectodermal Dysplasia-hypothyroidism-ciliary Dyskinesia Syndrome
- Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
- Hypokalemia
- Hypokalemic Periodic Paralysis
- Hypomandibular Faciocranial Dysostosis
- Hypomaturation-hypoplastic Amelogenesis Imperfecta With Taurodontism
- Hypomelanosis Of Ito
- Hypomyelinating Leukodystrophy-ataxia-hypodontia-hypomyelination Syndrome
- Hypomyelination Neuropathy-arthrogryposis Syndrome
- Hypomyelination Of Early Myelinating Structures
- Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum
- Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity
- Hypomyelination-cerebellar Atrophy-hypoplasia Of The Corpus Callosum Syndrome
- Hypomyelination-congenital Cataract Syndrome
- Hypomyelination-hypogonadotropic Hypogonadism-hypodontia Syndrome
- Hypoparathyroidism
- Hypoparathyroidism-sensorineural Deafness-renal Disease Syndrome
- Hypophosphatasia
- Hypophosphatemic Rickets
- Hypopigmentation-punctate Palmoplantar Keratoderma Syndrome
- Hypoplasia Of The Mitral Valve Annulus
- Hypoplasminogenemia
- Hypoplastic Left Heart Syndrome
- Hypoplastic Pancreas-intestinal Atresia-hypoplastic Gallbladder Syndrome
- Hyposmia-nasal And Ocular Hypoplasia-hypogonadotropic Hypogonadism Syndrome
- Hypospadias-intellectual Disability, Goldblatt Type Syndrome
- Hypothalamic Adipsic Hypernatraemia Syndrome
- Hypothalamic Hamartoma
- Hypothalamic Hamartomas With Gelastic Seizures
- Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
- Hypothyroidism Due To Tsh Receptor Mutations
- Hypotonia With Lactic Acidemia And Hyperammonemia
- Hypotonia-cystinuria Syndrome
- Hypotonia-failure To Thrive-microcephaly Syndrome
- Hypotonia-speech Impairment-severe Cognitive Delay Syndrome
- Hypotrichosis Simplex Of The Scalp
- Hypotrichosis With Juvenile Macular Degeneration
- Hypotrichosis-deafness Syndrome
- Hypotrichosis-intellectual Disability, Lopes Type
- Hypotrichosis-lymphedema-telangiectasia-renal Defect Syndrome
View All
- I Cell Disease
- Iatrogenic Botulism
- Iatrogenic Creutzfeldt-jakob Disease
- Icf Syndrome
- Ichthyosis
- Ichthyosis Hystrix Of Curth-macklin
- Ichthyosis Hystrix, Curth Macklin Type
- Ichthyosis Vulgaris
- Ichthyosis, Child Syndrome
- Ichthyosis, Erythrokeratodermia Variabilis
- Ichthyosis, Erythrokeratolysis Hiemalis
- Ichthyosis, Lamellar
- Ichthyosis, Netherton Syndrome
- Ichthyosis, X Linked
- Ichthyosis-alopecia-eclabion-ectropion-intellectual Disability Syndrome
- Ichthyosis-hepatosplenomegaly-cerebellar Degeneration Syndrome
- Ichthyosis-hypotrichosis Syndrome
- Ichthyosis-intellectual Disability-dwarfism-renal Impairment Syndrome
- Ichthyosis-oral And Digital Anomalies Syndrome
- Ichthyosis-prematurity Syndrome
- Ichthyosis-short Stature-brachydactyly-microspherophakia Syndrome
- Idiopathic Acute Eosinophilic Pneumonia
- Idiopathic Acute Transverse Myelitis
- Idiopathic Anterior Uveitis
- Idiopathic Aplastic Anemia
- Idiopathic Avascular Necrosis
- Idiopathic Bilateral Vestibulopathy
- Idiopathic Bronchiectasis
- Idiopathic Camptocormia
- Idiopathic Cd4 Lymphocytopenia
- Idiopathic Central Precocious Puberty
- Idiopathic Chronic Eosinophilic Pneumonia
- Idiopathic Congenital Hypothyroidism
- Idiopathic Copper-associated Cirrhosis
- Idiopathic Dropped Head Syndrome
- Idiopathic Ductopenia
- Idiopathic Eosinophilic Myositis
- Idiopathic Gastroparesis
- Idiopathic Giant Cell Myocarditis
- Idiopathic Hemiconvulsion-hemiplegia Syndrome
- Idiopathic Hypercalciuria
- Idiopathic Hypereosinophilic Syndrome
- Idiopathic Hypersomnia
- Idiopathic Intracranial Hypertension
- Idiopathic Isolated Micropenis
- Idiopathic Juvenile Osteoporosis
- Idiopathic Linear Interstitial Keratitis
- Idiopathic Localized Lipodystrophy
- Idiopathic Macular Telangiectasia Type 1
- Idiopathic Macular Telangiectasia Type 3
- Idiopathic Malabsorption Due To Bile Acid Synthesis Defects
- Idiopathic Multicentric Castleman Disease
- Idiopathic Multidrug-resistant Nephrotic Syndrome
- Idiopathic Neonatal Atrial Flutter
- Idiopathic Non-lupus Full-house Nephropathy
- Idiopathic Optic Perineuritis
- Idiopathic Panuveitis
- Idiopathic Peliosis Hepatis
- Idiopathic Phalangeal Acro-osteolysis
- Idiopathic Pleuroparenchymal Fibroelastosis
- Idiopathic Posterior Uveitis
- Idiopathic Pulmonary Arterial Hypertension
- Idiopathic Pulmonary Artery Dilatation
- Idiopathic Pulmonary Fibrosis
- Idiopathic Pulmonary Hemosiderosis
- Idiopathic Recurrent Pericarditis
- Idiopathic Recurrent Stupor
- Idiopathic Spontaneous Coronary Artery Dissection
- Idiopathic Steroid-resistant Nephrotic Syndrome
- Idiopathic Steroid-resistant Nephrotic Syndrome With Sensitivity To Second-line Immunosuppressive Th
- Idiopathic Steroid-sensitive Nephrotic Syndrome
- Idiopathic Steroid-sensitive Nephrotic Syndrome With Secondary Steroid Resistance
- Idiopathic Subglottic Stenosis
- Idiopathic Syringomyelia
- Idiopathic Trachyonychia
- Idiopathic Uveal Effusion Syndrome
- Idiopathic Ventricular Fibrillation, Non Brugada Type
- Iga Nephropathy
- Iga Pemphigus
- Igg4-related Aortitis
- Igg4-related Dacryoadenitis And Sialadenitis
- Igg4-related Kidney Disease
- Igg4-related Mediastinitis
- Igg4-related Mesenteritis
- Igg4-related Ophthalmic Disease
- Igg4-related Pachymeningitis
- Igg4-related Retroperitoneal Fibrosis
- Igg4-related Sclerosing Cholangitis
- Igg4-related Submandibular Gland Disease
- Igg4-related Thyroid Disease
- Il21-related Infantile Inflammatory Bowel Disease
- Ileal Neuroendocrine Tumor
- Ileal Pouch Anal Anastomosis Related Faecal Incontinence
- Image Syndrome
- Imaging In Dandy-walker Malformation
- Imaging In Fibromuscular Dysplasia Of The Carotid Artery
- Imerslund-gräsbeck Syndrome
- Iminoglycinuria
- Immune Deficiency Due To Impaired Neutrophil Phagocytosis And Migration
- Immune Dysregulation-inflammatory Bowel Disease-arthritis-recurrent Infections Syndrome
- Immune Dysregulation-inflammatory Bowel Disease-arthritis-recurrent Infections-lymphopenia Syndrome
- Immune Dysregulation-polyendocrinopathy-enteropathy-x-linked Syndrome
- Immune Hydrops Fetalis
- Immune Thrombocytopenia
- Immune-mediated Necrotizing Myopathy
- Immune-mediated Thrombotic Thrombocytopenic Purpura
- Immunodeficiency By Defective Expression Of Mhc Class I
- Immunodeficiency By Defective Expression Of Mhc Class Ii
- Immunodeficiency Due To Cd25 Deficiency
- Immunodeficiency Due To Ficolin3 Deficiency
- Immunodeficiency Due To Interleukin-1 Receptor-associated Kinase-4 Deficiency
- Immunodeficiency Due To Masp-2 Deficiency
- Immunodeficiency Due To Selective Anti-polysaccharide Antibody Deficiency
- Immunodeficiency With Factor H Anomaly
- Immunodeficiency With Factor I Anomaly
- Immunoglobulin A Vasculitis
- Immunoglobulin Heavy Chain Deficiency
- Immunoglobulin-mediated Membranoproliferative Glomerulonephritis
- Immunotactoid Glomerulopathy
- Imperforate Anus
- Imperforate Oropharynx-costovertebral Anomalies Syndrome
- Incessant Infant Ventricular Tachycardia
- Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
- Inclusion Body Myositis
- Inclusion-cell (i-cell) Disease (mucolipidosis Type Ii)
- Incomplete Septal Cirrhosis
- Incontinentia Pigmenti
- Indeterminate Cell Histiocytosis
- Indolent Systemic Mastocytosis
- Indomethacin Embryofetopathy
- Infant Acute Respiratory Distress Syndrome
- Infant Botulism
- Infantile Apnea
- Infantile Cerebellar-retinal Degeneration
- Infantile Cerebral And Cerebellar Atrophy With Postnatal Progressive Microcephaly
- Infantile Choroidocerebral Calcification Syndrome
- Infantile Convulsions And Choreoathetosis
- Infantile Digital Fibromatosis
- Infantile Dystonia-parkinsonism
- Infantile Epileptic-dyskinetic Encephalopathy
- Infantile Glycine Encephalopathy
- Infantile Hypertrophic Cardiomyopathy Due To Mrpl44 Deficiency
- Infantile Hypophosphatasia
- Infantile Hypotonia-oculomotor Anomalies-hyperkinetic Movements-developmental Delay Syndrome
- Infantile Inflammatory Bowel Disease With Neurological Involvement
- Infantile Krabbe Disease
- Infantile Mercury Poisoning
- Infantile Multisystem Neurologic-endocrine-pancreatic Disease
- Infantile Myofibromatosis
- Infantile Nephronophthisis
- Infantile Nephropathic Cystinosis
- Infantile Neuroaxonal Dystrophy
- Infantile Neuronal Ceroid Lipofuscinosis
- Infantile Neurovisceral Acid Sphingomyelinase Deficiency
- Infantile Onset Panniculitis With Uveitis And Systemic Granulomatosis
- Infantile Osteopetrosis With Neuroaxonal Dysplasia
- Infantile Spasm (west Syndrome)
- Infantile Spasms-broad Thumbs Syndrome
- Infantile Spasms-psychomotor Retardation-progressive Brain Atrophy-basal Ganglia Disease Syndrome
- Infantile Systemic Hyalinosis
- Infantile-onset Ascending Hereditary Spastic Paralysis
- Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
- Infantile-onset Axonal Motor And Sensory Neuropathy-optic Atrophy-neurodegenerative Syndrome
- Infantile-onset Generalized Dyskinesia With Orofacial Involvement
- Infantile-onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression
- Infantile-onset Periodic Fever-panniculitis-dermatosis Syndrome
- Infantile-onset Pulmonary Alveolar Proteinosis-hypogammaglobulinemia
- Infantile-onset Spinocerebellar Ataxia
- Infantile-onset X-linked Spinal Muscular Atrophy
- Infection-related Hemolytic Uremic Syndrome
- Infectious Anterior Uveitis
- Infectious Epithelial Keratitis
- Infectious Panuveitis
- Infectious Posterior Uveitis
- Infective Dermatitis Associated With Htlv-1
- Infective Endocarditis
- Inferior Vena Cava Interruption Without Azygos Continuation
- Inflammatory Bowel Disease-recurrent Sinopulmonary Infections Syndrome
- Inflammatory Linear Verrucous Epidermal Nevus
- Inflammatory Myofibroblastic Tumor
- Inflammatory Myopathy With Abundant Macrophages
- Inflammatory Pseudotumor Of The Liver
- Infundibulo-neurohypophysitis
- Inhalational Anthrax
- Inhalational Botulism
- Inherited Acute Myeloid Leukemia
- Inherited Cancer-predisposing Syndrome Due To Biallelic Brca2 Mutations
- Inherited Congenital Spastic Tetraplegia
- Inherited Creutzfeldt-jakob Disease
- Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11a1 Deficiency
- Iniencephaly
- Insulin Autoimmune Syndrome
- Insulin-resistance Syndrome Type A
- Insulin-resistance Syndrome Type B
- Insulinoma
- Intellectual Disability Syndrome Due To A Dyrk1a Point Mutation
- Intellectual Disability, Birk-barel Type
- Intellectual Disability, Buenos-aires Type
- Intellectual Disability, Wolff Type
- Intellectual Disability-alacrima-achalasia Syndrome
- Intellectual Disability-autism-speech Apraxia-craniofacial Dysmorphism Syndrome
- Intellectual Disability-balding-patella Luxation-acromicria Syndrome
- Intellectual Disability-brachydactyly-pierre Robin Syndrome
- Intellectual Disability-cardiac Anomalies-short Stature-joint Laxity Syndrome
- Intellectual Disability-cataracts-calcified Pinnae-myopathy Syndrome
- Intellectual Disability-cataracts-kyphosis Syndrome
- Intellectual Disability-coarse Face-macrocephaly-cerebellar Hypotrophy Syndrome
- Intellectual Disability-craniofacial Dysmorphism-cryptorchidism Syndrome
- Intellectual Disability-developmental Delay-contractures Syndrome
- Intellectual Disability-dysmorphism-hypogonadism-diabetes Mellitus Syndrome
- Intellectual Disability-epilepsy-extrapyramidal Syndrome
- Intellectual Disability-expressive Aphasia-facial Dysmorphism Syndrome
- Intellectual Disability-facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
- Intellectual Disability-facial Dysmorphism-hand Anomalies Syndrome
- Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome
- Intellectual Disability-hypoplastic Corpus Callosum-preauricular Tag Syndrome
- Intellectual Disability-hypotonia-brachycephaly-pyloric Stenosis-cryptorchidism Syndrome
- Intellectual Disability-macrocephaly-hypotonia-behavioral Abnormalities Syndrome
- Intellectual Disability-muscle Weakness-short Stature-facial Dysmorphism Syndrome
- Intellectual Disability-myopathy-short Stature-endocrine Defect Syndrome
- Intellectual Disability-obesity-brain Malformations-facial Dysmorphism Syndrome
- Intellectual Disability-obesity-prognathism-eye And Skin Anomalies Syndrome
- Intellectual Disability-polydactyly-uncombable Hair Syndrome
- Intellectual Disability-seizures-abnormal Gait-facial Dysmorphism Syndrome
- Intellectual Disability-seizures-hypophosphatasia-ophthalmic-skeletal Anomalies Syndrome
- Intellectual Disability-seizures-macrocephaly-obesity Syndrome
- Intellectual Disability-severe Speech Delay-mild Dysmorphism Syndrome
- Intellectual Disability-short Stature-hypertelorism Syndrome
- Intellectual Disability-spasticity-ectrodactyly Syndrome
- Intellectual Disability-strabismus Syndrome
- Interdigitating Dendritic Cell Sarcoma
- Intermediate Atrioventricular Septal Defect
- Intermediate Epidermolysis Bullosa Simplex With Cardiomyopathy
- Intermediate Generalized Junctional Epidermolysis Bullosa
- Intermediate Maple Syrup Urine Disease
- Intermediate Nemaline Myopathy
- Intermediate Osteopetrosis
- Intermediate Severe Salla Disease
- Intermediate Uveitis
- Intermittent Hydrarthrosis
- Intermittent Maple Syrup Urine Disease
- Internal Carotid Absence
- Interstitial Cystitis
- Interstitial Granulomatous Dermatitis With Arthritis
- Interstitial Lung Disease Due To Abca3 Deficiency
- Interstitial Lung Disease Due To Sp-c Deficiency
- Interstitial Lung Disease-nephrotic Syndrome-epidermolysis Bullosa Syndrome
- Interventricular Septum Aneurysm
- Intestinal Botulism
- Intestinal Leiomyosarcoma
- Intestinal Obstruction In The Newborn Due To Guanylate Cyclase 2c Deficiency
- Intractable Diarrhea-choanal Atresia-eye Anomalies Syndrome
- Intraductal Tubulopapillary Neoplasm Of Pancreas
- Intrahepatic Cholestasis Of Pregnancy
- Intralobar Congenital Pulmonary Sequestration
- Intraneural Perineurioma
- Intraocular Medulloepithelioma
- Intrauterine Growth Restriction-congenital Multiple Café-au-lait Macules-increased Sister Chromatid
- Intrauterine Growth Restriction-short Stature-early Adult-onset Diabetes Syndrome
- Intravascular Large B-cell Lymphoma
- Invasive Infections Due To Vancomycin-resistant Enterococci
- Invasive Mole
- Invasive Non-typhoidal Salmonellosis
- Inverse Klippel-trénaunay Syndrome
- Inverse Marcus-gunn Phenomenon
- Inverted Duplicated Chromosome 15 Syndrome
- Irf2bpl-related Regressive Neurodevelopmental Disorder-dystonia-seizures Syndrome
- Irf6-related Disorders
- Irida Syndrome
- Iridocorneal Endothelial Syndrome
- Irvan Syndrome
- Isaacs Syndrome
- Ischiovertebral Syndrome
- Isobutyryl-coa Dehydrogenase Deficiency
- Isochromosomy Yp
- Isochromosomy Yq
- Isolated Agenesis Of Gallbladder
- Isolated Amyelia
- Isolated Anencephaly
- Isolated Anencephaly/exencephaly
- Isolated Aniridia
- Isolated Ankyloblepharon Filiforme Adnatum
- Isolated Anterior Cervical Hypertrichosis
- Isolated Arhinencephaly
- Isolated Arrhinia
- Isolated Asymptomatic Elevation Of Creatine Phosphokinase
- Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type
- Isolated Bilateral Hemispheric Cerebellar Hypoplasia
- Isolated Blepharochalasis
- Isolated Bone Marrow Mastocytosis
- Isolated Cerebellar Agenesis
- Isolated Cerebellar Vermis Agenesis
- Isolated Cerebellar Vermis Hypoplasia
- Isolated Childhood Apraxia Of Speech
- Isolated Congenital Adermatoglyphia
- Isolated Congenital Aglossia
- Isolated Congenital Alacrima
- Isolated Congenital Anonychia
- Isolated Congenital Anosmia
- Isolated Congenital Auditory Ossicle Malformation
- Isolated Congenital Breast Hypoplasia/aplasia
- Isolated Congenital Digital Clubbing
- Isolated Congenital Ectropion
- Isolated Congenital Entropion
- Isolated Congenital Hepatic Fibrosis
- Isolated Congenital Hypoglossia
- Isolated Congenital Hypoglossia/aglossia
- Isolated Congenital Megalocornea
- Isolated Congenital Microcephaly
- Isolated Congenital Nasal Pyriform Aperture Stenosis
- Isolated Congenital Onychodysplasia
- Isolated Congenital Radial Head Dislocation
- Isolated Congenital Sclerocornea
- Isolated Congenital Syngnathia
- Isolated Congenitally Uncorrected Transposition Of The Great Arteries
- Isolated Corpus Callosum Agenesis
- Isolated Cryptophthalmia
- Isolated Dandy-walker Malformation
- Isolated Dandy-walker Malformation With Hydrocephalus
- Isolated Dandy-walker Malformation Without Hydrocephalus
- Isolated Delta-storage Pool Disease
- Isolated Distichiasis
- Isolated Ectopia Lentis
- Isolated Encephalocele
- Isolated Epispadias
- Isolated Exencephaly
- Isolated Female Hypospadias
- Isolated Focal Cortical Dysplasia
- Isolated Focal Cortical Dysplasia Type I
- Isolated Focal Cortical Dysplasia Type Ia
- Isolated Focal Cortical Dysplasia Type Ib
- Isolated Focal Cortical Dysplasia Type Ic
- Isolated Focal Cortical Dysplasia Type Ii
- Isolated Focal Cortical Dysplasia Type Iia
- Isolated Focal Cortical Dysplasia Type Iib
- Isolated Focal Non-epidermolytic Palmoplantar Keratoderma
- Isolated Follicle Stimulating Hormone Deficiency
- Isolated Foveal Hypoplasia
- Isolated Generalized Anhidrosis With Normal Sweat Glands
- Isolated Glycerol Kinase Deficiency
- Isolated Growth Hormone Deficiency Type Ia
- Isolated Growth Hormone Deficiency Type Ib
- Isolated Growth Hormone Deficiency Type Ii
- Isolated Growth Hormone Deficiency Type Iii
- Isolated Hemihyperplasia
- Isolated Hereditary Congenital Facial Paralysis
- Isolated Hyperchlorhidrosis
- Isolated Iridoschisis
- Isolated Lissencephaly Type 1 Without Known Genetic Defects
- Isolated Megalencephaly
- Isolated Megalopapilla
- Isolated Melanotic Schwannoma
- Isolated Mesenteric Vein Thrombosis
- Isolated Microspherophakia
- Isolated Neonatal Sclerosing Cholangitis
- Isolated Optic Nerve Hypoplasia/aplasia
- Isolated Optic Neuritis
- Isolated Optic Neuritis With Anti-mog Antibodies
- Isolated Optic Neuritis Without Anti-mog Antibodies
- Isolated Osteopoikilosis
- Isolated Partial Cerebellar Vermis Agenesis
- Isolated Partial Vaginal Agenesis
- Isolated Polycystic Liver Disease
- Isolated Pulmonary Capillaritis
- Isolated Right Ventricular Hypoplasia
- Isolated Sedoheptulokinase Deficiency
- Isolated Splenic Vein Thrombosis
- Isolated Splenogonadal Fusion
- Isolated Sternocostoclavicular Hyperostosis
- Isolated Succinate-coq Reductase Deficiency
- Isolated Sulfite Oxidase Deficiency
- Isolated Thyroid-stimulating Hormone Deficiency
- Isolated Thyrotropin-releasing Hormone Deficiency
- Isolated Total Cerebellar Vermis Agenesis
- Isolated Tracheoesophageal Fistula
- Isolated Unilateral Hemispheric Cerebellar Hypoplasia
- Isosporiasis
- Isotretinoin Syndrome
- Isotretinoin-like Syndrome
- Isovaleric Acid Coa Dehydrogenase Deficiency
- Isovaleric Acidemia
- Ispd-related Limb-girdle Muscular Dystrophy R20
- Itermittent Ataxia With Pyruvate Dehydrogenase Deficiency
- Itm2b Amyloidosis
- Itpa-related Lethal Infantile Neurological Disorder With Cataract And Cardiac Involvement
- Ivemark Syndrome
- Ivic Syndrome
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- Jackson-weiss Syndrome
- Jacobsen Syndrome
- Jalili Syndrome
- Jansen Type Metaphyseal Chondrodysplasia
- Japanese Encephalitis
- Jawad Syndrome
- Jeavons Syndrome
- Jejunal Atresia
- Jervell And Lange-nielsen Syndrome
- Jessner Lymphocytic Infiltration Of The Skin
- Johanson-blizzard Syndrome
- Johnson Neuroectodermal Syndrome
- Joseph Disease
- Joubert Syndrome
- Joubert Syndrome With Hepatic Defect
- Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
- Joubert Syndrome With Renal Defect
- Joubert-bolthauser Syndrome
- Juberg-hayward Syndrome
- Juberg-marsidi Syndrome
- Jumping Frenchmen Of Maine
- Junctional Epidermolysis Bullosa Inversa
- Junctional Epidermolysis Bullosa With Pyloric Atresia
- Jung Syndrome
- Juvenile Absence Epilepsy
- Juvenile Amyotrophic Lateral Sclerosis
- Juvenile Cataract-microcornea-renal Glucosuria Syndrome
- Juvenile Cln3 Disease
- Juvenile Dermatomyositis
- Juvenile Hemochromatosis
- Juvenile Huntington Disease
- Juvenile Hyaline Fibromatosis
- Juvenile Myasthenia Gravis
- Juvenile Myelomonocytic Leukemia
- Juvenile Nasopharyngeal Angiofibroma
- Juvenile Nephronophthisis
- Juvenile Nephropathic Cystinosis
- Juvenile Or Adult Cach Syndrome
- Juvenile Overlap Myositis
- Juvenile Paget Disease
- Juvenile Pilocytic Astrocytoma
- Juvenile Polymyositis
- Juvenile Polyposis Of Infancy
- Juvenile Polyposis Syndrome
- Juvenile Primary Lateral Sclerosis
- Juvenile Sialidosis Type 2
- Juvenile Temporal Arteritis
- Juvenile Xanthogranuloma
- Juvenile-onset Diabetes Mellitus-central And Peripheral Neurodegeneration Syndrome
- Juvenile-onset Steinert Myotonic Dystrophy
- Juxtaposition Of The Atrial Appendages
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- Kabuki Syndrome
- Kagami-ogata Syndrome
- Kagami-ogata Syndrome Due To Maternal 14q32.2 Hypermethylation
- Kagami-ogata Syndrome Due To Maternal 14q32.2 Microdeletion
- Kagami-ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
- Kallmann Syndrome
- Kallmann Syndrome And Idiopathic Hypogonadotropic Hypogonadism
- Kallmann Syndrome-heart Disease Syndrome
- Kandori Fleck Retina
- Kaposiform Hemangioendothelioma
- Kaposiform Lymphangiomatosis
- Kapur-toriello Syndrome
- Karsch-neugebauer Syndrome
- Karyomegalic Interstitial Nephritis
- Kasabach-merritt Phenomenon
- Kasabach-merritt Syndrome
- Kat6a Syndrome
- Kawasaki Disease
- Kbg Syndrome
- Kcnb1 Encephalopathy
- Kcnk9 Imprinting Syndrome
- Kcnq2 Encephalopathy
- Kcnq2-related Epileptic Encephalopathy
- Kdm5c-related Syndromic X-linked Intellectual Disability
- Kearns Sayre Syndrome
- Kearns-sayre Disease
- Keipert Syndrome
- Kennedy Disease
- Kenny-caffey Syndrome
- Keppen-lubinsky Syndrome
- Keratitis Ichthyosis Deafness Syndrome
- Keratoconus
- Keratocystic Odontogenic Tumor
- Keratoderma Hereditarium Mutilans
- Keratoderma Hereditarium Mutilans With Ichthyosis
- Keratolytic Winter Erythema
- Keratomalacia
- Keratosis Follicularis
- Keratosis Follicularis (darier Disease)
- Keratosis Follicularis Spinulosa Decalvans
- Keratosis Follicularis-dwarfism-cerebral Atrophy Syndrome
- Keratosis Linearis-ichthyosis Congenita-sclerosing Keratoderma Syndrome
- Keratosis Palmaris Et Plantaris-clinodactyly Syndrome
- Keratosis, Seborrheic
- Kerion Celsi
- Kernicterus
- Ketamine-induced Biliary Dilatation
- Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency
- Keutel Syndrome
- Kiaa1109-related Early Lethal Congenital Brain Malformations-arthrogryposis Syndrome
- Kidney Tubulopathy-dilated Cardiomyopathy Syndrome
- Kienbock Disease
- Kienböck Disease
- Kif1a-related Disorder
- Kikuchi Disease
- Kikuchi-fujimoto Disease
- Kikuchis Disease
- Kimura Disease
- Kindler Epidermolysis Bullosa
- King-denborough Syndrome
- Klatskin Tumor
- Kleefstra Syndrome
- Kleefstra Syndrome Due To 9q34 Microdeletion
- Kleefstra Syndrome Due To A Point Mutation
- Kleine-levin Syndrome
- Klhl7-related Bohring-opitz-like Syndrome
- Klhl7-related Bohring-opitz-like/cold-induced Sweating-like Overlap Syndrome
- Klhl7-related Cold-induced Sweating-like Syndrome
- Klhl9-related Early-onset Distal Myopathy
- Klinefelter Syndrome
- Klippel-feil Anomaly-myopathy-facial Dysmorphism Syndrome
- Klippel-feil Syndrome
- Klippel-trenaunay Syndrome
- Klüver-bucy Syndrome
- Kniest Dysplasia
- Knobloch Syndrome
- Kohler Disease
- Kommerell Diverticulum
- Koolen-de Vries Syndrome
- Koolen-de Vries Syndrome Due To A Point Mutation
- Kosaki Overgrowth Syndrome
- Kostmann Syndrome
- Kousseff Syndrome
- Krabbe Disease
- Krt1-related Diffuse Nonepidermolytic Keratoderma
- Kufor Rakeb Syndrome
- Kufor-rakeb Syndrome
- Kugelberg Welander Spinal Muscular Atrophy
- Kugelberg Welander Syndrome
- Kuru
- Kuskokwim Syndrome
- Kyasanur Forest Disease
- Kyphomelic Dysplasia
- Kyphoscoliosis-lateral Tongue Atrophy-hereditary Spastic Paraplegia Syndrome
- Kyphoscoliotic Ehlers-danlos Syndrome
- Kyphoscoliotic Ehlers-danlos Syndrome Due To Fkbp22 Deficiency
- Kyphoscoliotic Ehlers-danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
- Kyphosis-lateral Tongue Atrophy-myofibrillar Myopathy Syndrome
View All
- L-2-hydroxyglutaric Aciduria
- L-arginine:glycine Amidinotransferase Deficiency
- L-ferritin Deficiency
- L1 Syndrome
- La Crosse Encephalitis
- Laband Syndrome
- Lacrimoauriculodentodigital Syndrome
- Ladd Syndrome
- Lafora Disease
- Laing Early-onset Distal Myopathy
- Lama5-related Multisystemic Syndrome
- Lamb-shaffer Syndrome
- Lambert Syndrome
- Lambert-eaton Myasthenic Syndrome
- Lambert-eaton Myasthenic Syndrome (lems)
- Lambert-eaton Syndrome
- Lamellar Ichthyosis
- Laminin Subunit Alpha 2-related Congenital Muscular Dystrophy
- Laminin Subunit Alpha 2-related Limb-girdle Muscular Dystrophy R23
- Land Islands Eye Disease
- Landau Kleffner Syndrome
- Landau-kleffner Syndrome
- Langer Mesomelic Dysplasia
- Langerhans Cell Histiocytosis
- Langerhans Cell Sarcoma
- Langerhans-cell Histiocytosis (lch)
- Large Congenital Melanocytic Nevus
- Laron Syndrome
- Laron Syndrome With Immunodeficiency
- Larsen Syndrome
- Larsen-like Osseous Dysplasia-short Stature Syndrome
- Larsen-like Syndrome, B3gat3 Type
- Laryngeal Abductor Paralysis
- Laryngeal Abductor Paralysis-intellectual Disability Syndrome
- Laryngeal Dystonia
- Laryngeal Neuroendocrine Tumor
- Laryngo-onycho-cutaneous Syndrome
- Laryngocele
- Laryngotracheal Angioma
- Laryngotracheoesophageal Cleft
- Laryngotracheoesophageal Cleft Type 0
- Laryngotracheoesophageal Cleft Type 1
- Laryngotracheoesophageal Cleft Type 2
- Laryngotracheoesophageal Cleft Type 3
- Laryngotracheoesophageal Cleft Type 4
- Larynx Atresia
- Lassa Fever
- Late Infantile Cach Syndrome
- Late-infantile/juvenile Krabbe Disease
- Late-onset Distal Myopathy, Markesbery-griggs Type
- Late-onset Familial Hypoaldosteronism
- Late-onset Focal Dermal Elastosis
- Late-onset Isolated Acth Deficiency
- Late-onset Junctional Epidermolysis Bullosa
- Late-onset Localized Junctional Epidermolysis Bullosa-intellectual Disability Syndrome
- Late-onset Nephronophthisis
- Late-onset Retinal Degeneration
- Late-onset Steinert Myotonic Dystrophy
- Lateral Meningocele Syndrome
- Lathosterolosis
- Lattice Corneal Dystrophy Type I
- Laubry-pezzi Syndrome
- Laurence-moon Syndrome
- Laurin-sandrow Syndrome
- Lcat Deficiency
- Lead Poisoning
- Leber Congenital Amaurosis
- Leber Hereditary Optic Neuropathy
- Leber Plus Disease
- Ledderhose Disease
- Left Sided Atrial Isomerism
- Legg Calvé Perthes Disease
- Legg-calvé-perthes Disease
- Legionnaires Disease
- Legius Syndrome
- Leigh Syndrome
- Leigh Syndrome With Cardiomyopathy
- Leigh Syndrome With Nephrotic Syndrome
- Leiomyosarcoma
- Leiomyosarcoma Of Small Intestine
- Leiomyosarcoma Of The Cervix Uteri
- Leiomyosarcoma Of The Corpus Uteri
- Leiomyosarcoma, Inferior Vena Cava
- Leishmaniasis
- Lelis Syndrome
- Lemierre Syndrome
- Lennox-gastaut Syndrome
- Lenz Microphthalmia Syndrome
- Lenz-majewski Hyperostotic Dwarfism
- Leopard Syndrome
- Leprechaunism
- Leprosy
- Leptomyelolipoma
- Leptospirosis
- Leri Pleonosteosis
- Leri-weill Dyschondrosteosis
- Lesch Nyhan Syndrome
- Lesch-nyhan Disease
- Lethal Acantholytic Erosive Disorder
- Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency
- Lethal Ataxia With Deafness And Optic Atrophy
- Lethal Brain And Heart Developmental Defects
- Lethal Congenital Contracture Syndrome Type 1
- Lethal Congenital Contracture Syndrome Type 2
- Lethal Congenital Contracture Syndrome Type 3
- Lethal Faciocardiomelic Dysplasia
- Lethal Fetal Brain Malformation-duodenal Atresia-bilateral Renal Hypoplasia Syndrome
- Lethal Fetal Cerebrorenogenitourinary Agenesis/hypoplasia Syndrome
- Lethal Hemolytic Anemia-genital Anomalies Syndrome
- Lethal Hydranencephaly-diaphragmatic Hernia Syndrome
- Lethal Infantile Mitochondrial Myopathy
- Lethal Intrauterine Growth Restriction-cortical Malformation-congenital Contractures Syndrome
- Lethal Kniest-like Dysplasia
- Lethal Larsen-like Syndrome
- Lethal Left Ventricular Non-compaction-seizures-hypotonia-cataract-developmental Delay Syndrome
- Lethal Multiple Pterygium Syndrome
- Lethal Neonatal Spasticity-epileptic Encephalopathy Syndrome
- Lethal Occipital Encephalocele-skeletal Dysplasia Syndrome
- Lethal Omphalocele-cleft Palate Syndrome
- Lethal Osteosclerotic Bone Dysplasia
- Lethal Polymalformative Syndrome, Boissel Type
- Lethal Pontocerebellar Hypoplasia-hypotonia-respiratory Insufficiency Syndrome
- Lethal Pontocerebellar Hypoplasia-hypotonia-respiratory Insufficiency Syndrome Due To A Point Mutati
- Lethal Recessive Chondrodysplasia
- Letrozole Toxicity
- Leukocyte Adhesion Deficiency
- Leukocyte Adhesion Deficiency Syndromes
- Leukocyte Adhesion Deficiency Type I
- Leukocyte Adhesion Deficiency Type Ii
- Leukocyte Adhesion Deficiency Type Iii
- Leukodystrophy
- Leukodystrophy, Krabbes
- Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts
- Leukoencephalopathy With Brain Stem And Spinal Cord Involvement And Lactate Elevation
- Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-high Lactate Syndrome
- Leukoencephalopathy With Calcifications And Cysts
- Leukoencephalopathy With Mild Cerebellar Ataxia And White Matter Edema
- Leukoencephalopathy-dystonia-motor Neuropathy Syndrome
- Leukoencephalopathy-palmoplantar Keratoderma Syndrome
- Leukoencephalopathy-spondyloepimetaphyseal Dysplasia Syndrome
- Leukoencephalopathy-thalamus And Brainstem Anomalies-high Lactate Syndrome
- Leukomelanoderma-infantilism-intellectual Disability-hypodontia-hypotrichosis Syndrome
- Leukonychia Totalis
- Leukonychia Totalis-acanthosis-nigricans-like Lesions-abnormal Hair Syndrome
- Levocardia
- Levy-yeboa Syndrome
- Lewis-sumner Syndrome
- Lhermitte-duclos Disease
- Li-fraumeni Syndrome
- Lichen Amyloidosis
- Lichen Planopilaris
- Lichen Planus
- Lichen Planus Pemphigoides
- Lichen Planus Pigmentosus
- Lichen Sclerosus
- Lichtenstein Syndrome
- Liddle Syndrome
- Lig4 Syndrome
- Light And Heavy Chain Deposition Disease
- Light Chain Deposition Disease
- Limb Body Wall Complex
- Limb-girdle Muscular Dystrophies
- Limb-girdle Muscular Dystrophy
- Limb-girdle Muscular Dystrophy Due To Pomk Deficiency
- Limb-mammary Syndrome
- Limbal Stem Cell Deficiency
- Limited Cutaneous Systemic Sclerosis
- Limited Systemic Sclerosis
- Lims2-related Limb-girdle Muscular Dystrophy
- Linear And Whorled Nevoid Hypermelanosis
- Linear Atrophoderma Of Moulin
- Linear Focal Elastosis
- Linear Hypopigmentation And Craniofacial Asymmetry With Acral, Ocular And Brain Anomalies
- Linear Iga Dermatosis
- Linear Lichen Planus
- Linear Nevus Sebaceus Syndrome
- Linear Verrucous Nevus Syndrome
- Lipe-related Familial Partial Lipodystrophy
- Lipoblastoma
- Lipodystrophy Due To Peptidic Growth Factors Deficiency
- Lipodystrophy-intellectual Disability-deafness Syndrome
- Lipoic Acid Synthetase Deficiency
- Lipoid Proteinosis
- Lipomyelomeningocele
- Lipoprotein Glomerulopathy
- Liposarcoma
- Lipoyl Transferase 1 Deficiency
- Lipoyl Transferase 2 Deficiency
- Lisch Epithelial Corneal Dystrophy
- Lissencephaly
- Lissencephaly Due To Lis1 Mutation
- Lissencephaly Due To Tuba1a Mutation
- Lissencephaly Syndrome, Norman-roberts Type
- Lissencephaly Type 1 Due To Doublecortin Gene Mutation
- Lissencephaly Type 3-familial Fetal Akinesia Sequence Syndrome
- Lissencephaly Type 3-metacarpal Bone Dysplasia Syndrome
- Lissencephaly Type I
- Lissencephaly With Cerebellar Hypoplasia Type A
- Lissencephaly With Cerebellar Hypoplasia Type B
- Lissencephaly With Cerebellar Hypoplasia Type C
- Lissencephaly With Cerebellar Hypoplasia Type D
- Lissencephaly With Cerebellar Hypoplasia Type E
- Lissencephaly With Cerebellar Hypoplasia Type F
- Listeria Infection
- Listeriosis
- Livedoid Vasculopathy
- Liver Adenomatosis
- Lmna-related Cardiocutaneous Progeria Syndrome
- Lobar Holoprosencephaly
- Localized Dystrophic Epidermolysis Bullosa
- Localized Dystrophic Epidermolysis Bullosa, Acral Form
- Localized Dystrophic Epidermolysis Bullosa, Nails Only
- Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
- Localized Epidermolysis Bullosa Simplex
- Localized Junctional Epidermolysis Bullosa
- Localized Lichen Myxedematosus With Mixed Features Of Different Subtypes
- Localized Lichen Myxedematosus With Monoclonal Gammopathy Or Systemic Symptoms
- Localized Pagetoid Reticulosis
- Localized Scleroderma
- Locked In Syndrome
- Locked-in Syndrome
- Loeffler Endocarditis
- Loeys-dietz Syndrome
- Logopenic Progressive Aphasia
- Loiasis
- Long Qt Syndrome
- Longitudinal Vaginal Septum
- Loose Anagen Syndrome
- Low Gamma-gt Familial Intrahepatic Cholestasis
- Low Phospholipid-associated Cholelithiasis
- Low-flow Priapism
- Low-grade Neuroendocrine Tumor Of The Corpus Uteri
- Lowe Syndrome
- Lowe Syndrome (oculocerebrorenal Syndrome)
- Lowe-kohn-cohen Syndrome
- Lower Limb Hypertrophy
- Lower Limb Malformation-hypospadias Syndrome
- Lower Lip Fistula
- Lower Motor Neuron Syndrome With Late-adult Onset
- Lown-ganong-levine Syndrome
- Lowry-maclean Syndrome
- Lowry-wood Syndrome
- Lrp5-related Primary Osteoporosis
- Lujan-fryns Syndrome
- Lujo Hemorrhagic Fever
- Lumbosacral Spina Bifida Aperta
- Lumbosacral Spina Bifida Cystica
- Lung Agenesis-heart Defect-thumb Anomalies Syndrome
- Lung Fibrosis-immunodeficiency-46,xx Gonadal Dysgenesis Syndrome
- Lupus Erythematosus Panniculitis
- Lupus Erythematosus Tumidus
- Luscan-lumish Syndrome
- Lyme Disease
- Lymphangioleiomyomatosis
- Lymphangioleiomyomatosis Imaging And Diagnosis
- Lymphatic Filariasis
- Lymphatic Malformations
- Lymphedema-atrial Septal Defects-facial Changes Syndrome
- Lymphedema-cerebral Arteriovenous Anomaly Syndrome
- Lymphedema-distichiasis Syndrome
- Lymphedema-posterior Choanal Atresia Syndrome
- Lymphocytic Hypereosinophilic Syndrome
- Lymphocytic Infiltrate Of Jessner
- Lymphoepithelial-like Carcinoma
- Lymphoid Interstitial Pneumonia
- Lymphomatoid Granulomatosis
- Lymphomatoid Papulosis
- Lymphoplasmacytic Inflammatory Pseudotumor Of The Liver
- Lymphoplasmacytic Lymphoma Without Igm Production
- Lysinuric Protein Intolerance
- Lysosomal Acid Lipase Deficiency
- Lysosomal Acid Phosphatase Deficiency
- Lysosomal Free Sialic Acid Storage Disorders
- Lysosomal Storage Disease
- Lysosomal Storage Disorders
View All
- Machado-joseph Disease
- Machado-joseph Disease Type 1
- Machado-joseph Disease Type 2
- Machado-joseph Disease Type 3
- Macrocephaly-developmental Delay Syndrome
- Macrocephaly-intellectual Disability-autism Syndrome
- Macrocephaly-intellectual Disability-left Ventricular Non Compaction Syndrome
- Macrocephaly-intellectual Disability-neurodevelopmental Disorder-small Thorax Syndrome
- Macrocephaly-short Stature-paraplegia Syndrome
- Macrocephaly-spastic Paraplegia-dysmorphism Syndrome
- Macrocystic Lymphatic Malformation
- Macrodactyly Of Fingers
- Macrodactyly Of Fingers, Bilateral
- Macrodactyly Of Fingers, Unilateral
- Macrodactyly Of Toes
- Macrodactyly Of Toes, Bilateral
- Macrodactyly Of Toes, Unilateral
- Macroglossia
- Macrophage Activation Syndrome
- Macrophagic Myofasciitis
- Macrosomia-microphthalmia-cleft Palate Syndrome
- Macrostomia-preauricular Tags-external Ophthalmoplegia Syndrome
- Macrothrombocytopenia With Mitral Valve Insufficiency
- Macrothrombocytopenia-lymphedema-developmental Delay-facial Dysmorphism-camptodactyly Syndrome
- Macular Amyloidosis
- Macular Coloboma-cleft Palate-hallux Valgus Syndrome
- Macular Corneal Dystrophy
- Maculopapular Cutaneous Mastocytosis
- Madelungs Disease
- Madras Motor Neuron Disease
- Maffucci Syndrome
- Magel2-related Prader-willi-like Syndrome
- Magic Syndrome
- Majeed Syndrome
- Mal De Debarquement
- Mal De Meleda
- Malakoplakia
- Malan Overgrowth Syndrome
- Malaria
- Male Hypergonadotropic Hypogonadism-intellectual Disability-skeletal Anomalies Syndrome
- Male Infertility Due To Acephalic Spermatozoa
- Male Infertility Due To Globozoospermia
- Male Infertility Due To Large-headed Multiflagellar Polyploid Spermatozoa
- Maligant Granulosa Cell Tumor Of The Ovary
- Malignancy Diagnosed During Pregnancy
- Malignant Atrophic Papulosis
- Malignant Carcinoid Syndrome
- Malignant Dysgerminomatous Germ Cell Tumor Of The Ovary
- Malignant Germ Cell Tumor Of The Cervix Uteri
- Malignant Germ Cell Tumor Of The Corpus Uteri
- Malignant Germ Cell Tumor Of The Vagina
- Malignant Hyperthermia
- Malignant Melanoma Of The Mucosa
- Malignant Mesothelioma Imaging
- Malignant Mixed Müllerian Tumor Of The Ovary
- Malignant Non-dysgerminomatous Germ Cell Tumor Of Ovary
- Malignant Peripheral Nerve Sheath Tumor
- Malignant Peripheral Nerve Sheath Tumor With Perineurial Differentiation
- Malignant Peritoneal Mesothelioma
- Malignant Pleural Mesothelioma Staging
- Malignant Pleural Mesothelioma Treatment Protocols
- Malignant Sertoli-leydig Cell Tumor Of The Ovary
- Malignant Triton Tumor
- Malignant Tumor Of Fallopian Tubes
- Mallory Weiss Syndrome
- Malonic Aciduria
- Malposition Of A Coronary Ostium
- Malt Lymphoma
- Mammary-digital-nail Syndrome
- Mandibular Arteriovenous Malformation
- Mandibular Hypoplasia-deafness-progeroid Features-lipodystrophy Syndrome
- Mandibuloacral Dysplasia
- Mandibuloacral Dysplasia With Type A Lipodystrophy
- Mandibuloacral Dysplasia With Type B Lipodystrophy
- Mandibulofacial Dysostosis (treacher Collins Syndrome)
- Mandibulofacial Dysostosis With Alopecia
- Mandibulofacial Dysostosis-macroblepharon-macrostomia Syndrome
- Mandibulofacial Dysostosis-microcephaly Syndrome
- Manganese Poisoning
- Mansonelliasis
- Mantle Cell Lymphoma
- Maple Syrup Urine Disease
- Maple Syrup Urine Disease (msud)
- Marburg Acute Multiple Sclerosis
- Marburg Hemorrhagic Fever
- Marchiafava-bignami Disease
- Marcus Gunn Jaw-winking Syndrome
- Marcus Gunn Phenomenon
- Marcus-gunn Syndrome
- Marden Walker Syndrome
- Marden-walker Syndrome
- Marfan Syndrome
- Marfan Syndrome Type 1
- Marfan Syndrome Type 2
- Marfanoid Habitus-autosomal Recessive Intellectual Disability Syndrome
- Marfanoid Habitus-inguinal Hernia-advanced Bone Age Syndrome
- Marfanoid Syndrome, De Silva Type
- Marie Unna Hereditary Hypotrichosis
- Marin-amat Syndrome
- Marinesco Sjogren Syndrome
- Marinesco-sjögren Syndrome
- Maroteaux Lamy Syndrome
- Marshall Smith Syndrome
- Marshall Syndrome
- Marshall-smith Syndrome
- Martinique Crinkled Retinal Pigment Epitheliopathy
- Masa Syndrome
- Mast Cell Leukemia
- Mast Cell Sarcoma
- Mastocytosis
- Maternal Hyperthermia-induced Birth Defects
- Maternal Phenylketonuria
- Maternal Riboflavin Deficiency
- Maternal Uniparental Disomy Of Chromosome 1
- Maternal Uniparental Disomy Of Chromosome 13
- Maternal Uniparental Disomy Of Chromosome 16
- Maternal Uniparental Disomy Of Chromosome 2
- Maternal Uniparental Disomy Of Chromosome 20
- Maternal Uniparental Disomy Of Chromosome 21
- Maternal Uniparental Disomy Of Chromosome 22
- Maternal Uniparental Disomy Of Chromosome 4
- Maternal Uniparental Disomy Of Chromosome 6
- Maternal Uniparental Disomy Of Chromosome 9
- Maternal Uniparental Disomy Of Chromosome X
- Maternally Inherited Leigh Syndrome And Narp Syndrome
- Maternally-inherited Diabetes And Deafness
- Matthew-wood Syndrome
- Maxillary Arteriovenous Malformation
- Maxillofacial Dysostosis
- May Hegglin Anomaly
- May-hegglin Anomaly
- Mayer-rokitansky-küster-hauser Syndrome
- Mayer-rokitansky-küster-hauser Syndrome Type 1
- Mayer-rokitansky-küster-hauser Syndrome Type 2
- Mazabraud Syndrome
- Mccune Albright Syndrome
- Mccune-albright Syndrome
- Mcdonough Syndrome
- Mckusick Type Metaphyseal Chondrodysplasia
- Mckusick-kaufman Syndrome
- Mcleod Neuroacanthocytosis Syndrome
- Mct8-specific Thyroid Hormone Cell Transporter Deficiency
- Mdr3 Deficiency
- Meacham Syndrome
- Measles
- Meckel Syndrome
- Meckel-gruber Syndrome
- Meconium Aspiration Syndrome
- Mecp2 Duplication Syndrome
- Medial Condensing Osteitis Of The Clavicle
- Median Arcuate Ligament Syndrome
- Median Cleft Lip/mandibule
- Median Cleft Of The Upper Lip And Maxilla
- Median Nodule Of The Upper Lip
- Medich Giant Platelet Syndrome
- Medium Chain Acyl Coa Dehydrogenase Deficiency
- Mednik Syndrome
- Medullary Sponge Kidney
- Medullary Thyroid Carcinoma
- Medulloblastoma
- Medulloblastoma Imaging
- Medulloblastoma Pathology
- Medulloblastoma With Extensive Nodularity
- Medulloepithelioma Of The Central Nervous System
- Meesmann Corneal Dystrophy
- Mega-cisterna Magna
- Megaconial Congenital Muscular Dystrophy
- Megacystis-megaureter Syndrome
- Megacystis-microcolon-intestinal Hypoperistalsis Syndrome
- Megakaryoblastic Acute Myeloid Leukemia With T(1;22)(p13;q13)
- Megalencephalic Leukoencephalopathy With Subcortical Cysts
- Megalencephaly
- Megalencephaly-capillary Malformation
- Megalencephaly-capillary Malformation-polymicrogyria Syndrome
- Megalencephaly-polymicrogyria-postaxial Polydactyly-hydrocephalus Syndrome
- Megalencephaly-severe Kyphoscoliosis-overgrowth Syndrome
- Megalocornea Intellectual Disability Syndrome
- Megalocornea-intellectual Disability Syndrome
- Megdel Syndrome
- Mehmo Syndrome
- Meige Disease
- Meige Syndrome
- Meigs Syndrome
- Melanoma And Neural System Tumor Syndrome
- Melanoma Of Soft Tissue
- Melanoma, Malignant
- Melas
- Melas Syndrome
- Meleda Disease
- Melhem-fahl Syndrome
- Melioidosis
- Melkersson Rosenthal Syndrome
- Melkersson-rosenthal Syndrome
- Melnick Needles Syndrome
- Melnick-needles Syndrome
- Melorheostosis
- Melorheostosis With Osteopoikilosis
- Mend Syndrome
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar2 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12b Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Isg15 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency
- Menetrier Disease
- Ménières Disease
- Meningeal Melanocytoma
- Meningioma
- Meningiomas Pathology
- Meningitis
- Meningitis, Bacterial
- Meningitis, Tuberculous
- Meningococcal Meningitis
- Meningococcemia
- Menke-hennekam Syndrome
- Menkes Disease
- Menstrual Cycle-dependent Periodic Fever
- Mepan Syndrome
- Mercury Poisoning
- Merkel Cell Carcinoma
- Merrf
- Merrf Syndrome
- Mesenchymal Chondrosarcoma
- Mesenteric Panniculitis
- Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
- Mesocardia
- Mesomelia-synostoses Syndrome
- Mesomelic Dwarfism, Reinhardt-pfeiffer Type
- Mesomelic Dwarfism-cleft Palate-camptodactyly Syndrome
- Mesomelic Dysplasia, Kantaputra Type
- Mesomelic Dysplasia, Nievergelt Type
- Mesomelic Dysplasia, Savarirayan Type
- Mesothelioma
- Metabolic Myopathy Due To Lactate Transporter Defect
- Metachondromatosis
- Metachromatic Leukodystrophy
- Metachromatic Leukodystrophy, Adult Form
- Metachromatic Leukodystrophy, Juvenile Form
- Metachromatic Leukodystrophy, Late Infantile Form
- Metaphyseal Acroscyphodysplasia
- Metaphyseal Anadysplasia
- Metaphyseal Chondrodysplasia, Jansen Type
- Metaphyseal Chondrodysplasia, Kaitila Type
- Metaphyseal Chondrodysplasia, Schmid Type
- Metaphyseal Chondrodysplasia, Spahr Type
- Metaphyseal Chondromatosis With D-2-hydroxyglutaric Aciduria
- Metaphyseal Dysostosis-intellectual Disability-conductive Deafness Syndrome
- Metaphyseal Dysplasia, Braun-tinschert Type
- Metaphyseal Dysplasia-maxillary Hypoplasia-brachydacty Syndrome
- Metatropic Dysplasia
- Metatropic Dysplasia I
- Methanol Poisoning
- Methimazole Embryofetopathy
- Methotrexate Toxicity
- Methotrexate-associated Lymphoproliferative Disorders
- Methylcobalamin Deficiency Type Cbldv1
- Methylcobalamin Deficiency Type Cble
- Methylcobalamin Deficiency Type Cblg
- Methylmalonic Acidemia
- Methylmalonic Acidemia Due To Methylmalonyl-coa Epimerase Deficiency
- Methylmalonic Acidemia With Homocystinuria
- Methylmalonic Acidemia With Homocystinuria Type Cblf
- Methylmalonic Acidemia With Homocystinuria, Type Cblc
- Methylmalonic Acidemia With Homocystinuria, Type Cbld
- Methylmalonic Acidemia With Homocystinuria, Type Cblj
- Methylmalonic Acidemia With Homocystinuria, Type Cblx
- Methylmalonic Aciduria Due To Transcobalamin Receptor Defect
- Metopic Ridging-ptosis-facial Dysmorphism Syndrome
- Mevalonate Kinase Deficiency
- Mevalonic Aciduria
- Mff-related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
- Mgat2-cdg
- Micro Syndrome
- Microbrachycephaly-ptosis-cleft Lip Syndrome
- Microcephalic Cortical Malformations-short Stature Due To Rttn Deficiency
- Microcephalic Osteodysplastic Dysplasia, Saul-wilson Type
- Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
- Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
- Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
- Microcephalic Primordial Dwarfism, Dauber Type
- Microcephalic Primordial Dwarfism, Montreal Type
- Microcephalic Primordial Dwarfism, Toriello Type
- Microcephalic Primordial Dwarfism-insulin Resistance Syndrome
- Microcephaly-albinism-digital Anomalies Syndrome
- Microcephaly-brachydactyly-kyphoscoliosis Syndrome
- Microcephaly-brain Defect-spasticity-hypernatremia Syndrome
- Microcephaly-capillary Malformation Syndrome
- Microcephaly-cardiac Defect-lung Malsegmentation Syndrome
- Microcephaly-cardiomyopathy Syndrome
- Microcephaly-cerebellar Hypoplasia-cardiac Conduction Defect Syndrome
- Microcephaly-cervical Spine Fusion Anomalies Syndrome
- Microcephaly-cleft Palate-abnormal Retinal Pigmentation Syndrome
- Microcephaly-complex Motor And Sensory Axonal Neuropathy Syndrome
- Microcephaly-congenital Cataract-psoriasiform Dermatitis Syndrome
- Microcephaly-corpus Callosum And Cerebellar Vermis Hypoplasia-facial Dysmorphism-intellectual Disabi
- Microcephaly-corpus Callosum Hypoplasia-intellectual Disability-facial Dysmorphism Syndrome
- Microcephaly-deafness-intellectual Disability Syndrome
- Microcephaly-facial Dysmorphism-ocular Anomalies-multiple Congenital Anomalies Syndrome
- Microcephaly-facio-cardio-skeletal Syndrome, Hadziselimovic Type
- Microcephaly-glomerulonephritis-marfanoid Habitus Syndrome
- Microcephaly-intellectual Disability-sensorineural Hearing Loss-epilepsy-abnormal Muscle Tone Syndro
- Microcephaly-lymphedema-chorioretinopathy Syndrome
- Microcephaly-microcornea Syndrome, Seemanova Type
- Microcephaly-micromelia Syndrome
- Microcephaly-polymicrogyria-corpus Callosum Agenesis Syndrome
- Microcephaly-seizures-intellectual Disability-heart Disease Syndrome
- Microcephaly-short Stature-intellectual Disability-facial Dysmorphism Syndrome
- Microcephaly-short Stature-limb Abnormalities Syndrome
- Microcephaly-thin Corpus Callosum-intellectual Disability Syndrome
- Microcornea-glaucoma-absent Frontal Sinuses Syndrome
- Microcornea-myopic Chorioretinal Atrophy-telecanthus Syndrome
- Microcornea-posterior Megalolenticonus-persistent Fetal Vasculature-coloboma Syndrome
- Microcystic Lymphatic Malformation
- Microcystic Stromal Tumor
- Microcytic Anemia With Liver Iron Overload
- Microduplication Xp11.22p11.23 Syndrome
- Microform Holoprosencephaly
- Microgastria-limb Reduction Defect Syndrome
- Micrognathia-recurrent Infections-behavioral Abnormalities-mild Intellectual Disability Syndrome
- Microlissencephaly
- Microlissencephaly-micromelia Syndrome
- Microphthalmia With Brain And Digit Anomalies
- Microphthalmia With Limb Anomalies
- Microphthalmia With Linear Skin Defects Syndrome
- Microphthalmia, Lenz Type
- Microphthalmia-ankyloblepharon-intellectual Disability Syndrome
- Microphthalmia-brain Atrophy Syndrome
- Microphthalmia-microtia-fetal Akinesia Syndrome
- Microphthalmia-retinitis Pigmentosa-foveoschisis-optic Disc Drusen Syndrome
- Microspherophakia-metaphyseal Dysplasia Syndrome
- Microsporidiosis
- Microtia-eye Coloboma-imperforation Of The Nasolacrimal Duct Syndrome
- Microtriplication 11q24.1
- Microvillus Inclusion Disease
- Micturation-induced Seizures
- Mid-dermal Elastolysis
- Middle Ear Neuroendocrine Tumor
- Middle East Respiratory Syndrome
- Midline Cervical Cleft
- Midline Interhemispheric Variant Of Holoprosencephaly
- Mietens Syndrome
- Mikati-najjar-sahli Syndrome
- Mikulicz Syndrome
- Mild Canavan Disease
- Mild Hemophilia A
- Mild Hemophilia B
- Mild Hyperphenylalaninemia
- Mild Phenylketonuria
- Mild Phosphoribosylpyrophosphate Synthetase Superactivity
- Mild Spondyloepiphyseal Dysplasia Due To Col2a1 Mutation With Early-onset Osteoarthritis
- Miller Fisher Syndrome
- Miller Syndrome
- Miller-dieker Syndrome
- Mills Syndrome
- Minimal Pigment Oculocutaneous Albinism Type 1
- Mir140-related Spondyloepiphyseal Dysplasia
- Mirage Syndrome
- Mirizzi Syndrome
- Mirror Polydactyly-vertebral Segmentation-limbs Defects Syndrome
- Mirror-image Polydactyly
- Mit Family Translocation Renal Cell Carcinoma
- Mitf-related Melanoma And Renal Cell Carcinoma Predisposition Syndrome
- Mitochondrial Cytopathy Kearn-sayre Type
- Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
- Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
- Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies
- Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency
- Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
- Mitochondrial Dna Depletion Syndrome, Myopathic Form
- Mitochondrial Dna-associated Leigh Syndrome
- Mitochondrial Dna-related Cardiomyopathy And Hearing Loss
- Mitochondrial Dna-related Dystonia
- Mitochondrial Dna-related Progressive External Ophthalmoplegia
- Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency
- Mitochondrial Membrane Protein-associated Neurodegeneration
- Mitochondrial Myopathy And Sideroblastic Anemia
- Mitochondrial Myopathy-cerebellar Ataxia-pigmentary Retinopathy Syndrome
- Mitochondrial Myopathy-lactic Acidosis-deafness Syndrome
- Mitochondrial Neurogastrointestinal Encephalomyopathy
- Mitochondrial Neurogastrointestinal Encephalopathy
- Mitochondrial Pyruvate Carrier Deficiency
- Mitochondrial Trifunctional Protein Deficiency
- Mitral Atresia
- Mitral Valve Agenesis
- Mitral Valve Prolapse Syndrome
- Mixed Connective Tissue Disease
- Mixed Connective Tissue Disease (mctd)
- Mixed Cryoglobulinemia
- Mixed Cryoglobulinemia Type Ii
- Mixed Cryoglobulinemia Type Iii
- Mixed Cystic Lymphatic Malformation
- Mixed Germ Cell Tumor
- Mixed Germ Cell Tumor Of Central Nervous System
- Mixed Neuroendocrine And Non-neuroendocrine Neoplasm Of Pancreas
- Mixed Phenotype Acute Leukemia
- Mixed Phenotype Acute Leukemia With T(9;22)(q34.1;q11.2)
- Mixed Phenotype Acute Leukemia With T(v;11q23.3)
- Mixed Sclerosing Bone Dystrophy With Extra-skeletal Manifestations
- Mixed-type Autoimmune Hemolytic Anemia
- Miyoshi Myopathy
- Mme-related Autosomal Dominant Charcot Marie Tooth Disease Type 2
- Mmep Syndrome
- Mobius Syndrome
- Moderate And Severe Traumatic Brain Injury
- Moderate Hemophilia A
- Moderate Hemophilia B
- Moderate Multiminicore Disease With Hand Involvement
- Moderately-differentiated Thymic Neuroendocrine Carcinoma
- Moebius Sequence
- Moebius Syndrome
- Moebius Syndrome-axonal Neuropathy-hypogonadotropic Hypogonadism Syndrome
- Mogs-cdg
- Mohr-tranebjaerg Syndrome
- Momo Syndrome
- Monilethrix
- Monoamine Oxidase A Deficiency
- Monoclonal Mast Cell Activation Syndrome
- Monomelic Amyotrophy
- Mononen-karnes-senac Syndrome
- Monosomy 13q14
- Monosomy 13q34
- Monosomy 18p
- Monosomy 18q
- Monosomy 21
- Monosomy 22
- Monosomy 22q13.3
- Monosomy 5p
- Monosomy 9p
- Monosomy 9q22.3
- Monosomy X
- Monostotic Fibrous Dysplasia
- Mooren Ulcer
- Morgagni-stewart-morel Syndrome
- Morm Syndrome
- Morning Glory Disc Anomaly
- Morquio Syndrome (mucopolysaccharidosis Type Iv)
- Morvan Syndrome
- Mosaic Genome-wide Paternal Uniparental Disomy
- Mosaic Monosomy X
- Mosaic Trisomy 1
- Mosaic Trisomy 10
- Mosaic Trisomy 12
- Mosaic Trisomy 14
- Mosaic Trisomy 15
- Mosaic Trisomy 16
- Mosaic Trisomy 17
- Mosaic Trisomy 2
- Mosaic Trisomy 20
- Mosaic Trisomy 22
- Mosaic Trisomy 3
- Mosaic Trisomy 4
- Mosaic Trisomy 5
- Mosaic Trisomy 7
- Mosaic Trisomy 8
- Mosaic Trisomy 9
- Mosaic Variegated Aneuploidy Syndrome
- Mounier-kühn Syndrome
- Mowat-wilson Syndrome
- Mowat-wilson Syndrome Due To A Zeb2 Point Mutation
- Moyamoya Angiopathy-short Stature-facial Dysmorphism-hypergonadotropic Hypogonadism Syndrome
- Moyamoya Disease
- Moyamoya Disease With Early-onset Achalasia
- Moynahan Syndrome
- Mpdu1-cdg
- Mpi-cdg
- Mrcs Syndrome
- Msh3-related Attenuated Familial Adenomatous Polyposis
- Mt-atp6-related Mitochondrial Spastic Paraplegia
- Mthfs-related Developmental Delay-microcephaly-short Stature-epilepsy Syndrome
- Mu-heavy Chain Disease
- Muc1-related Autosomal Dominant Tubulointerstitial Kidney Disease
- Mucha Habermann Disease
- Mucinous Adenocarcinoma Of The Appendix
- Mucinous Cystadenoma Of Childhood
- Mucinous Tubular And Spindle Cell Renal Carcinoma
- Muckle-wells Syndrome
- Mucocutaneous Venous Malformations
- Mucolipidosis Iv
- Mucolipidosis Type Ii
- Mucolipidosis Type Iii
- Mucolipidosis Type Iii Alpha/beta
- Mucolipidosis Type Iii Gamma
- Mucolipidosis Type Iv
- Mucopolysaccharidoses
- Mucopolysaccharidoses Types I-vii
- Mucopolysaccharidosis
- Mucopolysaccharidosis Iv
- Mucopolysaccharidosis Type 2, Attenuated Form
- Mucopolysaccharidosis Type 2, Severe Form
- Mucopolysaccharidosis Type 4b
- Mucopolysaccharidosis Type 6, Rapidly Progressing
- Mucopolysaccharidosis Type 6, Slowly Progressing
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type Ii
- Mucopolysaccharidosis Type Iii
- Mucopolysaccharidosis Type Vii
- Mucopolysaccharidosis-like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
- Mucormycosis
- Mucous Membrane Pemphigoid
- Mueller-weiss Syndrome
- Muenke Syndrome
- Muir-torre Syndrome
- Mulibrey Nanism
- Multicentric Carpo-tarsal Osteolysis With Or Without Nephropathy
- Multicentric Osteolysis-nodulosis-arthropathy Spectrum
- Multicentric Reticulohistiocytosis
- Multicystic Dysplastic Kidney
- Multifocal Atrial Tachycardia
- Multifocal Lymphangioendotheliomatosis-thrombocytopenia Syndrome