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

Addison’s 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 Still’s 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

Asherman’s Syndrome

Asherson’s 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

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

Banti’s 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

Behçet’s Syndrome

Bejel

Bell’s 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

Buerger’s 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

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

Chandler’s 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

Chilaiditi’s 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

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

Dercum’s 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

Dupuytren’s 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

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

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

Friedreich’s 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

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

Grover’s 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

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

Hodgkin’s 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

Horner’s 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

Huntington’s 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

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