Genetic Rare Diseases

A552▾

• AA Amyloidosis
• AApoAI Amyloidosis
• Aase-Smith Syndrome
• ABeta Amyloidosis, Arctic Type
• ABeta Amyloidosis, Dutch Type
• ABeta Amyloidosis, Iowa Type
• ABeta Amyloidosis, Italian Type
• ABetaA21G Amyloidosis
• ABetaL34V Amyloidosis
• Abetalipoproteinaemia
• Ablepharon Macrostomia Syndrome
• Abortive Cerebellar Ataxia
• ABri Amyloidosis
• Abruzzo-Erickson Syndrome
• Absence Deformity Of Leg-Cataract Syndrome
• Absent Radius-Anogenital Anomalies Syndrome
• Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome
• Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
• Acatalasia
• Acetazolamide-Responsive Myotonia
• Achalasia Microcephaly Syndrome
• Acheiropodia
• Achondrogenesis
• Achondrogenesis Type II
• Achondrogenesis, Type IA
• Achondrogenesis, Type IB
• Achondroplasia
• Achromatopsia
• Acid Phosphatase Deficiency
• Ackerman Syndrome
• Acquired Angioedema
• Acquired Creutzfeldt-Jakob Disease
• Acquired Hemoglobin H Disease
• Acquired Partial Lipodystrophy
• Acquired Polycythemia Vera
• Acquired Schizencephaly
• Acral Dystrophic Epidermolysis Bullosa
• Acral Peeling Skin Syndrome
• Acral Self-Healing Collodion Baby
• Acro-Renal-Mandibular Syndrome
• Acrocallosal Syndrome
• Acrocapitofemoral Dysplasia
• Acrocardiofacial Syndrome
• Acrocephalopolydactyly
• Acrocephalosyndactyly Type I
• Acrocephalosyndactyly Type V
• Acrocraniofacial Dysostosis
• Acrodermatitis Continua Suppurativa Of Hallopeau
• Acrodysostosis
• Acroerythrokeratoderma
• Acrofacial Dysostosis Rodriguez Type
• Acrofacial Dysostosis, Catania Type
• Acrofacial Dysostosis, Palagonia Type
• Acrofrontofacionasal Dysostosis
• Acrofrontofacionasal Dysostosis Type 2
• Acrokerato-Elastoidosis
• Acrokeratosis Verruciformis Of Hopf
• Acromegaloid Facial Appearance Syndrome
• Acromegaly
• Acromelic Frontonasal Dysostosis
• Acromesomelic Dysplasia 1, Maroteaux Type
• Acromesomelic Dysplasia 2B
• Acromesomelic Dysplasia 2C, Hunter-Thompson Type
• Acromicric Dysplasia
• Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome
• Acrootoocular Syndrome
• Acropectoral Syndrome
• Acropectorovertebral Dysplasia
• Acrorenal Field Defect, Ectodermal Dysplasia, And Lipoatrophic Diabetes
• Acrorenal Syndrome
• ACTB-Associated Syndromic Thrombocytopenia
• Actin Accumulation Myopathy
• Actinic Prurigo
• Action Myoclonus-Renal Failure Syndrome
• Activated PI3K-Delta Syndrome
• Acute Basophilic Leukemia
• Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
• Acute Fatty Liver Of Pregnancy
• Acute Febrile Mucocutaneous Lymph Node Syndrome
• Acute Febrile Neutrophilic Dermatosis
• Acute Infantile Liver Failure Due To Synthesis Defect Of MtDNA-Encoded Proteins
• Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
• Acute Inflammatory Demyelinating Polyradiculoneuropathy
• Acute Intermittent Porphyria
• Acute Interstitial Pneumonia
• Acute Leukemia Of Ambiguous Lineage
• Acute Lymphoid Leukemia
• Acute Mast Cell Leukemia
• Acute Megakaryoblastic Leukemia Without Down Syndrome
• Acute Myeloblastic Leukemia With Maturation
• Acute Myeloblastic Leukemia Without Maturation
• Acute Myeloid Leukemia
• Acute Myeloid Leukemia By FAB Classification
• 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 inv3(p21;q26.2) Or t(3;3)(p21;q26.2)
• Acute Myeloid Leukemia With Minimal Differentiation
• Acute Myeloid Leukemia With Multilineage Dysplasia
• 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 Myeloid Leukemia, M6 Type
• Acute Necrotizing Encephalopathy Of Childhood
• Acute Neonatal Citrullinemia Type I
• Acute Promyelocytic Leukemia
• Acute Undifferentiated Leukemia
• Acyl-CoA Dehydrogenase 9 Deficiency
• Acyl-CoA Oxidase Deficiency
• Adactylia, Unilateral
• Adamantinoma
• Adams-Oliver Syndrome
• ADan Amyloidosis
• Adducted Thumbs-Arthrogryposis Syndrome, Christian Type
• Adenine Phosphoribosyltransferase Deficiency
• Adenoid Ameloblastoma
• Adenosine Kinase Deficiency
• Adenosine Monophosphate Deaminase Deficiency
• Adenylosuccinate Lyase Deficiency
• Adermatoglyphia
• ADNP-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
• Adrenal Cortex Carcinoma
• Adrenoleukodystrophy
• Adrenomyeloneuropathy
• Adrenomyodystrophy
• Adult Hepatocellular Carcinoma
• Adult Hypophosphatasia
• Adult Krabbe Disease
• Adult Polyglucosan Body Disease
• ADULT Syndrome
• Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy
• Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
• Adult-Onset Citrullinemia Type I
• Adult-Onset Distal Myopathy Due To VCP Mutation
• Adult-Onset Foveomacular Vitelliform Dystrophy
• Adult-Onset Progressive Leukoencephalopathy-Early-Onset Deafness
• Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant
• Adult-Onset Steinert Myotonic Dystrophy
• Advanced Sleep Phase Syndrome
• AFib Amyloidosis
• African Nutritional Hemochromatosis
• Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
• Aganglionic Megacolon
• Agenesis Of The Corpus Callosum With Peripheral Neuropathy
• Aggressive Systemic Mastocytosis
• Aglossia-Adactyly Syndrome
• Agnathia-Otocephaly Complex
• AHDC1-Related Intellectual Disability - Obstructive Sleep Apnea - Mild Dysmorphism Syndrome
• AICA-Ribosiduria
• Aicardi Goutieres Syndrome
• Aicardi Syndrome
• AKT2-Related Familial Partial Lipodystrophy
• AL Amyloidosis
• Al Kaissi Syndrome
• Al-Gazali Syndrome
• Alacrima, Achalasia, And Intellectual Disability Syndrome
• Alagille Syndrome Due To 20p12 Microdeletion
• Alagille Syndrome Due To A JAG1 Point Mutation
• Alagille Syndrome Due To A NOTCH2 Point Mutation
• Aland Island Eye Disease
• Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
• Alazami-Yuan Syndrome
• Albinism-Hearing Loss Syndrome
• ALDH18A1-Related De Barsy Syndrome
• Alexander Disease
• Alexander Disease Type I
• Alexander Disease Type II
• ALG1-Congenital Disorder Of Glycosylation
• ALG11-Congenital Disorder Of Glycosylation
• ALG12-Congenital Disorder Of Glycosylation
• ALG2-Congenital Disorder Of Glycosylation
• ALG3-Congenital Disorder Of Glycosylation
• ALG6-Congenital Disorder Of Glycosylation 1C
• ALG8 Congenital Disorder Of Glycosylation
• ALG9 Congenital Disorder Of Glycosylation
• ALK-Positive Anaplastic Large Cell Lymphoma
• ALK-Positive Large B-Cell Lymphoma
• Alkaline Ceramidase 3 Deficiency
• Alkaptonuria
• Alkuraya-Kucinskas Syndrome
• Allan-Herndon-Dudley Syndrome
• Allergic Bronchopulmonary Aspergillosis
• Alobar Holoprosencephaly
• Alopecia - Contractures - Dwarfism - Intellectual Disability Syndrome
• Alopecia - Intellectual Disability Syndrome
• Alopecia Universalis Congenita
• Alopecia, Congenital
• Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
• Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
• Alpha Thalassemia
• Alpha Thalassemia-Intellectual Disability Syndrome Type 1
• Alpha Thalassemia-X-Linked Intellectual Disability Syndrome
• Alpha, Alpha-Trehalase Deficiency
• Alpha-1-Antitrypsin Deficiency
• Alpha-2-Plasmin Inhibitor Deficiency
• 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
• ALPI-Related Inflammatory Bowel Disease
• Alport Syndrome
• Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
• Alstrom Syndrome
• Alternating Hemiplegia Of Childhood
• Alveolar Capillary Dysplasia With Pulmonary Venous Misalignment
• Alveolar Rhabdomyosarcoma
• Alveolar Soft Part Sarcoma
• ALys Amyloidosis
• Amaurosis-Hypertrichosis Syndrome
• Ambras Type Hypertrichosis Universalis Congenita
• AMED Syndrome, Digenic
• Amelocerebrohypohidrotic Syndrome
• Amelogenesis Imperfecta
• Amelogenesis Imperfecta Type 1
• Amelogenesis Imperfecta Type 1G
• Amelogenesis Imperfecta Type 2
• Amelogenesis Imperfecta, Hypocalcification Type
• Ameloonychohypohidrotic Syndrome
• Aminoacylase 1 Deficiency
• Amish Lethal Microcephaly
• Amniotic Band Syndrome
• Amyloidosis Cutis Dyschromia
• Amyotrophic Lateral Sclerosis
• Amyotrophic Lateral Sclerosis Type 4
• Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex
• Anaplastic Oligoastrocytoma
• Anaplastic Oligodendroglioma
• Anastomosing Haemangioma
• Anauxetic Dysplasia
• Andersen Tawil Syndrome
• ANE Syndrome
• Anemia, Congenital Dyserythropoietic, Type IVb
• Anemia, Nonspherocytic Hemolytic, Due To G6PD Deficiency
• Anencephaly 1
• Aneurysm-Osteoarthritis Syndrome
• 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
• Angioma Serpiginosum
• Angiomatoid Fibrous Histiocytoma
• Aniridia-Absent Patella Syndrome
• Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
• Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate Syndrome
• Annular Epidermolytic Ichthyosis
• Annular Pancreas
• Anodontia
• Anonychia
• Anonychia With Flexural Pigmentation
• Anonychia-Microcephaly Syndrome
• Anonychia-Onychodystrophy Syndrome
• Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
• Anophthalmia Plus Syndrome
• Anophthalmia/microphthalmia-Esophageal Atresia Syndrome
• Anotia
• Antecubital Pterygium Syndrome
• Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
• Anterior Segment Dysgenesis
• Anti-Glomerular Basement Membrane Disease
• Antley-Bixler Syndrome
• Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
• Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
• Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
• Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
• Aphalangy-Syndactyly-Microcephaly Syndrome
• Aplasia Cutis Congenita
• Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
• Aplasia Cutis-Enamel Dysplasia Syndrome
• Aplasia Cutis-Myopia Syndrome
• Apolipoprotein A-II Amyloidosis
• Apparent Mineralocorticoid Excess
• Aprosencephaly Cerebellar Dysgenesis
• Aquagenic Palmoplantar Keratoderma
• Arachnoid Cyst
• Arachnoiditis
• Arginase Deficiency
• Arginine:glycine Amidinotransferase Deficiency
• Argininosuccinate Lyase Deficiency
• Armfield Syndrome
• Aromatase Deficiency
• Aromatase Excess Syndrome
• Arrhythmogenic Cardiomyopathy With Wooly Hair And Keratoderma
• Arterial Calcification Of Infancy
• Arterial Dissection-Lentiginosis Syndrome
• Arterial Tortuosity Syndrome
• Arteriohepatic Dysplasia
• Arthrogryposis Multiplex Congenita 2, Neurogenic Type
• Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
• Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome
• Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
• Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
• Arthrogryposis-Ectodermal Dysplasia-Other Anomalies Syndrome
• Arthrogryposis-Hyperkeratosis Syndrome, Lethal Form
• Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
• Arthrogryposis-Like Syndrome
• Arthrogryposis-Severe Scoliosis Syndrome
• Arts Syndrome
• Ascher Syndrome
• Aspartylglucosaminuria
• Aspergillosis
• Astroblastoma
• Astrocytoma
• Astrocytoma, Anaplastic
• Asxl3-Related Disorder
• Asymptomatic Hyperckemia-Myalgia-Rhabdomyolysis Syndrome
• Ataxia - Deafness - Intellectual Disability Syndrome
• Ataxia - Intellectual Disability - Oculomotor Apraxia - Cerebellar Cysts Syndrome
• Ataxia - Oculomotor Apraxia Type 4
• Ataxia - Telangiectasia Variant
• Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
• Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
• Ataxia-Pancytopenia Syndrome
• Ataxia-Tapetoretinal Degeneration Syndrome
• Ataxia-Telangiectasia Syndrome
• Ataxia-Telangiectasia-Like Disorder
• Ataxia-Telangiectasia-Like Disorder 2
• Ateleiotic Dwarfism
• Atelosteogenesis Type I
• Atelosteogenesis Type II
• Atelosteogenesis Type III
• Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
• Atkin-Flaitz Syndrome
• ATPase Cation Transporting 13A2 Related Juvenile Neuronal Ceroid Lipofuscinosis
• Atransferrinemia
• Atresia Of Small Intestine
• Atrial Septal Defect, Ostium Primum Type
• Atrial Septal Defect, Ostium Secundum Type
• Atrichia With Papular Lesions
• Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
• Atrophia Bulborum Hereditaria
• Atrophoderma Vermiculatum
• Attenuated Chédiak-Higashi Syndrome
• Attenuated Familial Adenomatous Polyposis
• ATTRV122I Amyloidosis
• ATTRV30M Amyloidosis
• Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative
• Atypical Dentin Dysplasia Due To SMOC2 Deficiency
• Atypical Fanconi Syndrome-Neonatal Hyperinsulinism Syndrome
• Atypical Glycine Encephalopathy
• Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality
• Atypical Hemolytic-Uremic Syndrome
• Atypical Hemolytic-Uremic Syndrome With Anti-Factor H Antibodies
• Atypical Hemolytic-Uremic Syndrome With DGKE Deficiency
• Atypical Hypotonia-Cystinuria Syndrome
• Atypical Juvenile Parkinsonism
• Atypical Pantothenate Kinase-Associated Neurodegeneration
• Atypical Progressive Supranuclear Palsy Syndrome
• Atypical Rett Syndrome
• Atypical Teratoid Rhabdoid Tumor
• Atypical Werner Syndrome
• Auditory Neuropathy-Optic Atrophy Syndrome
• Auriculocondylar Syndrome
• Auriculoosteodysplasia
• Aurocephalosyndactyly
• Autism Spectrum Disorder - Epilepsy - Arthrogryposis Syndrome
• Autism Spectrum Disorder Due To AUTS2 Deficiency
• Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome
• Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
• Autoimmune Interstitial Lung Disease-Arthritis Syndrome
• Autoimmune Lymphoproliferative Syndrome
• Autoimmune Lymphoproliferative Syndrome Due To CTLA4 Haploinsufficiency
• Autoimmune Lymphoproliferative Syndrome Type 2B
• Autoimmune Primary Adrenal Insufficiency
• Autoimmune Pulmonary Alveolar Proteinosis
• Autoimmune Thrombocytopenic Purpura
• Autoinflammation, Panniculitis, And Dermatosis Syndrome, Autosomal Recessive
• Autoinflammation-PLCG2-Associated Antibody Deficiency-Immune Dysregulation
• Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis
• Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
• Autosomal Agammaglobulinemia
• Autosomal Dominant Alport Syndrome
• Autosomal Dominant Aplasia And Myelodysplasia
• Autosomal Dominant Centronuclear Myopathy
• Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy
• 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 2K
• Autosomal Dominant Charcot-Marie-Tooth Disease Type 2M
• Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
• Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures
• Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy Without Contractures
• Autosomal Dominant Combined Immunodeficiency Due To ERBIN Deficiency
• Autosomal Dominant Combined Immunodeficiency Due To Partial IL6ST Deficiency
• Autosomal Dominant Complex Spastic Paraplegia Type 9B
• Autosomal Dominant Deafness - Onychodystrophy 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 Familial Hematuria-Retinal Arteriolar Tortuosity-Contractures 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 With Neuropathic Pain
• Autosomal Dominant Isolated Somatotropin Deficiency
• Autosomal Dominant Kenny-Caffey Syndrome
• Autosomal Dominant Keratitis
• Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D (DNAJB6)
• Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1F
• Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1G
• Autosomal Dominant Macrothrombocytopenia
• Autosomal Dominant Medullary Cystic Kidney Disease With Or Without Hyperuricemia
• Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IFNgammaR1 Deficiency
• Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
• Autosomal Dominant Myoglobinuria
• Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
• Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy
• Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
• Autosomal Dominant Non-Syndromic Intellectual Disability
• Autosomal Dominant Omodysplasia
• Autosomal Dominant Optic Atrophy Classic Form
• Autosomal Dominant Optic Atrophy Plus Syndrome
• Autosomal Dominant Osteopetrosis 1
• Autosomal Dominant Osteopetrosis 2
• Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
• Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis
• Autosomal Dominant Polycystic Liver Disease
• Autosomal Dominant Popliteal Pterygium Syndrome
• Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome
• Autosomal Dominant Primary Microcephaly
• Autosomal Dominant Progressive External Ophthalmoplegia
• Autosomal Dominant Pseudohypoaldosteronism Type 1
• Autosomal Dominant Rhegmatogenous Retinal Detachment
• Autosomal Dominant Robinow Syndrome
• Autosomal Dominant Severe Congenital Neutropenia
• Autosomal Dominant Slowed Nerve Conduction Velocity
• Autosomal Dominant Spondylocostal Dysostosis
• Autosomal Dominant Vibratory Urticaria
• Autosomal Dominant Vitreoretinochoroidopathy
• Autosomal Erythropoietic Protoporphyria
• Autosomal Recessive Alport Syndrome
• Autosomal Recessive Amelia
• Autosomal Recessive Ataxia Due To PEX10 Deficiency
• Autosomal Recessive Ataxia Due To PEX16 Deficiency
• Autosomal Recessive Ataxia Due To PEX2 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 - Pyramidal Signs - Nystagmus - Oculomotor Apraxia Syndrome
• Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
• Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome
• Autosomal Recessive Cerebral Atrophy
• Autosomal Recessive Combined Immunodeficiency Due To Complete IL6ST Deficiency
• Autosomal Recessive Combined Immunodeficiency Due To IL6R Deficiency
• Autosomal Recessive Combined Immunodeficiency Due To Partial IL6ST Deficiency
• Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
• Autosomal Recessive Complex Spastic Paraplegia Type 9B
• Autosomal Recessive Congenital Ichthyosis 11
• Autosomal Recessive Congenital Ichthyosis 4B
• Autosomal Recessive Cutis Laxa Type 1
• Autosomal Recessive Cutis Laxa Type 2, Classic Type
• Autosomal Recessive Cutis Laxa Type 2B
• Autosomal Recessive Distal Osteolysis Syndrome
• Autosomal Recessive Distal Renal Tubular Acidosis
• Autosomal Recessive Distal Spinal Muscular Atrophy 1
• Autosomal Recessive Distal Spinal Muscular Atrophy 2
• Autosomal Recessive DOPA Responsive Dystonia
• Autosomal Recessive Epidermolytic Ichthyosis
• Autosomal Recessive Extra-Oral Halitosis
• Autosomal Recessive Faciodigitogenital Syndrome
• Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
• Autosomal Recessive Hyperinsulinism Due To SUR1 Deficiency
• Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome
• Autosomal Recessive Hypophosphatemic Bone Disease
• Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
• Autosomal Recessive Infantile Hypercalcemia
• Autosomal Recessive Kenny-Caffey Syndrome
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2D
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2J
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2K
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2L
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2M
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2P
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Q
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R1
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2T
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2U
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2X
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type R18
• Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IFNgammaR1 Deficiency
• Autosomal Recessive Multiple Pterygium Syndrome
• Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
• Autosomal Recessive Non-Syndromic Intellectual Disability
• Autosomal Recessive Omodysplasia
• Autosomal Recessive Optic Atrophy, OPA7 Type
• Autosomal Recessive Osteopetrosis
• Autosomal Recessive Osteopetrosis 6
• Autosomal Recessive Osteopetrosis 7
• Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
• Autosomal Recessive Parkinson Disease 14
• Autosomal Recessive Polycystic Kidney Disease
• Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity
• Autosomal Recessive Primary Microcephaly
• 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 Sideroblastic Anemia
• Autosomal Recessive Spastic Paraplegia Type 59
• Autosomal Recessive Spastic Paraplegia Type 60
• 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 76
• Autosomal Recessive Spastic Paraplegia Type 78
• Autosomal Recessive Spinocerebellar Ataxia 10
• Autosomal Recessive Spinocerebellar Ataxia 11
• Autosomal Recessive Spinocerebellar Ataxia 2
• Autosomal Recessive Spinocerebellar Ataxia 20
• Autosomal Recessive Spinocerebellar Ataxia 7
• Autosomal Recessive Spondylocostal Dysostosis
• Autosomal Recessive Spondyloepimetaphyseal Dysplasia
• Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type
• Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
• Autosomal Systemic Lupus Erythematosus Type 16
• Avellino Corneal Dystrophy
• Axenfeld Anomaly
• Axenfeld-Rieger Syndrome
• Axial Osteosclerosis
• Axial Spondylometaphyseal Dysplasia
• Azorean Disease

B165▾

• B Lymphoblastic Leukemia Lymphoma With Hyperdiploidy
• B-Cell Chronic Lymphocytic Leukemia
• B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations
• B-Lymphoblastic Leukemia/lymphoma With t(12;21)(p13.2;q22.1)
• B-Lymphoblastic Leukemia/lymphoma With t(17;19)
• B-Lymphoblastic Leukemia/lymphoma With t(5;14)(q31.1;q32.3)
• B-Lymphoblastic Leukemia/lymphoma With t(7;9)(q11.2;p13.2)
• B-Lymphoblastic Leukemia/lymphoma With t(9;22)(q34.1;q11.2)
• B-Lymphoblastic Leukemia/lymphoma With t(v;11q23.3)
• B4GALT1-Congenital Disorder Of Glycosylation
• Bailey-Bloch Congenital Myopathy
• Ballard Syndrome
• Baller-Gerold Syndrome
• Bamforth-Lazarus Syndrome
• Banki Syndrome
• Bannayan-Riley-Ruvalcaba Syndrome
• BAP1-Related Tumor Predisposition Syndrome
• Baraitser-Winter Syndrome
• Barber-Say Syndrome
• Bardet-Biedl Syndrome
• Bartsocas-Papas Syndrome 1
• Bartter Disease Type 1
• Bartter Disease Type 2
• Bartter Disease Type 3
• Bartter Disease Type 5
• Bartter Syndrome
• Bartter Syndrome Type 4
• Basan Syndrome
• Basilicata-Akhtar Syndrome
• Bathing Suit Ichthyosis
• BDV Syndrome
• Beare-Stevenson Cutis Gyrata Syndrome
• Beck-Fahrner Syndrome
• Becker Muscular Dystrophy
• Beckwith-Wiedemann Syndrome
• Beckwith-Wiedemann Syndrome Due To 11p15 Microdeletion
• Beckwith-Wiedemann Syndrome Due To CDKN1C Mutation
• Beckwith-Wiedemann Syndrome Due To Imprinting Defect Of 11p15
• Beemer-Ertbruggen Syndrome
• Behavioral Variant Of Frontotemporal Dementia
• Behcet Disease
• Bencze Syndrome
• Benign Adult Familial Myoclonic Epilepsy
• Benign Epithelial Tumor Of Salivary Glands
• Benign Familial Infantile Epilepsy
• Benign Intracranial Hypertension
• Benign Mucous Membrane Pemphigoid
• Benign Neonatal Seizures
• Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia
• Benign Paroxysmal Torticollis Of Infancy
• Benign Recurrent Intrahepatic Cholestasis
• Benign Recurrent Intrahepatic Cholestasis Type 1
• Benign Recurrent Intrahepatic Cholestasis Type 2
• Benign Samaritan Congenital Myopathy
• Bent Bone Dysplasia
• Bent Bone Dysplasia Syndrome 1
• BENTA Disease
• Berardinelli-Seip Congenital Lipodystrophy
• Bernard Soulier Syndrome
• Beta Thalassemia
• Beta Thalassemia Intermedia
• Beta-D-Mannosidosis
• Beta-Thalassemia Major
• Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
• Bethlem Myopathy
• Biemond Syndrome Type 2
• Bietti Crystalline Corneoretinal Dystrophy
• Bifid Nose
• Bifid Uvula
• Bifunctional Peroxisomal Enzyme Deficiency
• Bilateral Frontoparietal Polymicrogyria
• Bilateral Generalized Polymicrogyria
• Bilateral Microtia-Deafness-Cleft Palate Syndrome
• Bilateral Multicystic Dysplastic Kidney
• Bilateral Parasagittal Parieto-Occipital Polymicrogyria
• Bilateral Polymicrogyria
• Bilateral Renal Agenesis
• Bilateral Renal Dysplasia
• Bilateral Renal Hypoplasia
• Bilateral Striopallidodentate Calcinosis
• Biliary Atresia
• Biliary Atresia With Splenic Malformation Syndrome
• Bimanual Synkinesia
• Binder Syndrome
• Biotin-Responsive Basal Ganglia Disease
• Biotinidase Deficiency
• Bird Headed-Dwarfism, Montreal Type
• Bird-Headed Dwarfism With Progressive Ataxia, Insulin-Resistant Diabetes, Goiter, And Primary Gonadal Insufficiency
• Birdshot Chorioretinopathy
• Birk-Barel Syndrome
• Birt-Hogg-Dube Syndrome 1
• Bladder Exstrophy
• Blau Syndrome
• Blepharocheilodontic Syndrome
• Blepharonasofacial Malformation 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-Impaired Intellectual Development 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
• Blindness - Scoliosis - Arachnodactyly Syndrome
• Bloom Syndrome
• Blue Color Blindness
• Blue Rubber Bleb Nevus
• BNAR Syndrome
• Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
• Bohring-Opitz Syndrome
• Bone Fragility With Contractures, Arterial Rupture, And Deafness
• Bone Osteosarcoma
• Bonnemann-Meinecke-Reich Syndrome
• Boomerang Dysplasia
• Borjeson-Forssman-Lehmann Syndrome
• Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
• Bosley-Salih-Alorainy Syndrome
• Bothnia Retinal Dystrophy
• Bowen-Conradi Syndrome
• Brachydactylous Dwarfism, Mseleni Type
• Brachydactyly Type A1
• Brachydactyly Type A4
• 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-Nystagmus-Cerebellar Ataxia Syndrome
• Brachydactyly-Preaxial Hallux Varus Syndrome
• Brachydactyly-Syndactyly Syndrome
• Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
• Brachyolmia - Maroteaux Type
• Brachyolmia Type 1, Hobaek Type
• Brachyolmia Type 1, Toledo Type
• Brachyolmia-Amelogenesis Imperfecta Syndrome
• Brachyrachia (short Spine Dysplasia)
• Brachytelephalangy-Dysmorphism-Kallmann Syndrome
• Braddock Syndrome
• Bradyopsia
• Brain Dopamine-Serotonin Vesicular Transport Disease
• Brain-Lung-Thyroid Syndrome
• Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency
• Branchiogenic Deafness Syndrome
• Branchiooculofacial Syndrome
• Branchiootic Syndrome
• Breast Implant-Associated Anaplastic Large Cell Lymphoma
• BRESEK Syndrome
• Brittle Cornea Syndrome
• Brody Myopathy
• Brooke-Spiegler Syndrome
• Bruck Syndrome
• Brugada Syndrome
• Brunner Syndrome
• Budd-Chiari Syndrome
• Bullous Diffuse Cutaneous Mastocytosis
• Bullous Dystrophy, Macular Type
• Bullous Pemphigoid
• Bullous Pyoderma Gangrenosum
• Burkitt Lymphoma
• Butterfly-Shaped Pigment Dystrophy

C640▾

• C Syndrome
• C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy
• C3 Glomerulonephritis
• CADDS
• CADINS Disease
• Cafe Au Lait Spots, Multiple
• Café-Au-Lait Macules With Pulmonary Stenosis
• Calvarial Doughnut Lesions-Bone Fragility Syndrome
• CAMOS Syndrome
• Campomelia, Cumming Type
• Camptobrachydactyly
• Camptodactyly Of Fingers
• Camptodactyly Syndrome, Guadalajara Type 1
• Camptodactyly Syndrome, Guadalajara Type 2
• Camptodactyly Syndrome, Guadalajara Type 3
• Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
• Camptodactyly, Myopia, And Fibrosis Of The Medial Rectus Muscle Of Eye
• Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
• Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
• Camptomelic Dysplasia
• Cap Myopathy
• Capillary Malformation-Arteriovenous Malformation 1
• Capillary Malformation-Arteriovenous Malformation Syndrome
• CARASIL Syndrome
• Carcinoid Syndrome
• Cardiac Anomalies - Developmental Delay - Facial Dysmorphism Syndrome
• Cardiac Anomalies-Short Stature-Joint Hypermobility-Facial Dysmorphism Syndrome Due To TAB2 Mutation
• Cardiac Valvular Dysplasia, X-Linked
• Cardiac-Urogenital Syndrome
• Cardio-Facio-Cutaneous Syndrome
• Cardiocranial Syndrome, Pfeiffer Type
• Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
• Cardiospondylocarpofacial Syndrome
• Carney Complex
• Carney Complex - Trismus - Pseudocamptodactyly Syndrome
• Carney Triad
• Carney-Stratakis Syndrome
• Carnitine Acylcarnitine Translocase Deficiency
• Carnitine Palmitoyl Transferase 1A Deficiency
• Carnitine Palmitoyl Transferase II Deficiency, Myopathic Form
• Carnitine Palmitoyl Transferase II Deficiency, Neonatal Form
• Carnitine Palmitoyl Transferase II Deficiency, Severe Infantile Form
• Carnitine Palmitoyltransferase II Deficiency
• Carnosinemia
• Caroli Disease
• Carpenter Syndrome
• Carpotarsal Osteochondromatosis
• Castleman Disease
• Cat Eye Syndrome
• Cataplexy And Narcolepsy
• Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome
• Cataract - Microcornea Syndrome
• Cataract 10 Multiple Types
• Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
• Cataract-Ataxia-Deafness Syndrome
• Cataract-Glaucoma Syndrome
• Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
• Cataract-Hypertrichosis-Intellectual Disability Syndrome
• Cataract-Nephropathy-Encephalopathy Syndrome
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Catecholaminergic Polymorphic Ventricular Tachycardia 2
• Catel-Manzke Syndrome
• Cathepsin A-Related Arteriopathy-Strokes-Leukoencephalopathy
• Caudal Duplication
• Caudal Regression Sequence
• Cayman Type Cerebellar Ataxia
• CBL-Related Disorder
• CCDC115-CDG
• CCNK-Related Neurodevelopmental Disorder-Severe Intellectual Disability-Facial Dysmorphism Syndrome
• CEBALID Syndrome
• CEBPE-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome
• CEDNIK Syndrome
• Celiac Disease-Epilepsy-Cerebral Calcification Syndrome
• CELSR1-Related Late-Onset Primary Lymphedema
• Cenani-Lenz Syndactyly Syndrome
• Central Areolar Choroidal Dystrophy
• Central Cloudy Dystrophy Of Francois
• Central Core Myopathy
• Central Diabetes Insipidus
• Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease
• Central Nervous System Germinoma
• Central Nervous System Rhabdomyosarcoma
• Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency
• Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
• Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
• Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
• Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
• Cerebellar Ataxia-Hypogonadism Syndrome
• Cerebellar Hypoplasia-Intellectual Disability-Congenital Microcephaly-Dystonia-Anemia-Growth Retardation Syndrome
• Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
• Cerebellar-Facial-Dental Syndrome
• Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
• Cerebral Arteriovenous Malformation
• Cerebral Folate Transport Deficiency
• Cerebral Venous Sinus Thrombosis
• Cerebro-Costo-Mandibular Syndrome
• Cerebrooculonasal Syndrome
• Cernunnos-XLF Deficiency
• Ceroid Lipofuscinosis, Neuronal, 6A
• Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
• Channelopathy-Associated Congenital Insensitivity To Pain, Autosomal Recessive
• Char Syndrome
• Charcot-Marie-Tooth Disease Axonal Type 2C
• Charcot-Marie-Tooth Disease Axonal Type 2F
• Charcot-Marie-Tooth Disease Axonal Type 2H
• Charcot-Marie-Tooth Disease Axonal Type 2K
• Charcot-Marie-Tooth Disease Axonal Type 2L
• Charcot-Marie-Tooth Disease Axonal Type 2O
• Charcot-Marie-Tooth Disease Axonal Type 2P
• Charcot-Marie-Tooth Disease Axonal Type 2Q
• Charcot-Marie-Tooth Disease Axonal Type 2X
• Charcot-Marie-Tooth Disease Dominant Intermediate B
• Charcot-Marie-Tooth Disease Dominant Intermediate C
• Charcot-Marie-Tooth Disease Dominant Intermediate D
• Charcot-Marie-Tooth Disease Dominant Intermediate E
• Charcot-Marie-Tooth Disease Dominant Intermediate F
• Charcot-Marie-Tooth Disease Recessive Intermediate A
• Charcot-Marie-Tooth Disease Recessive Intermediate B
• Charcot-Marie-Tooth Disease Recessive Intermediate C
• Charcot-Marie-Tooth Disease Recessive Intermediate D
• 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 2A1
• Charcot-Marie-Tooth Disease Type 2A2
• Charcot-Marie-Tooth Disease Type 2B
• Charcot-Marie-Tooth Disease Type 2B1
• Charcot-Marie-Tooth Disease Type 2B2
• Charcot-Marie-Tooth Disease Type 2B5
• Charcot-Marie-Tooth Disease Type 2D
• Charcot-Marie-Tooth Disease Type 2E
• Charcot-Marie-Tooth Disease Type 2I
• Charcot-Marie-Tooth Disease Type 2J
• Charcot-Marie-Tooth Disease Type 2R
• 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
• Charcot-Marie-Tooth Disease Type 4K
• Charcot-Marie-Tooth Disease Type 5
• Charcot-Marie-Tooth Disease X-Linked Recessive 5
• Charcot-Marie-Tooth Disease, Axonal, Type 2GG
• Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
• Charcot-Marie-Tooth Disease, Type IA
• Charcot-Marie-Tooth Disease-Hearing Loss-Intellectual Disability Syndrome
• CHARGE Syndrome
• Charlevoix-Saguenay Spastic Ataxia
• Cheilitis Glandularis
• Chiari Type I Malformation
• Child Syndrome
• Childhood Absence Epilepsy
• Childhood Apraxia Of Speech
• Childhood Encephalopathy Due To Thiamine Pyrophosphokinase Deficiency
• Childhood Onset GLUT1 Deficiency Syndrome 2
• Childhood-Onset Autosomal Recessive Myopathy With External Ophthalmoplegia
• Childhood-Onset Benign Chorea With Striatal Involvement
• Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
• Childhood-Onset Nemaline Myopathy
• Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome
• Childhood-Onset Steinert Myotonic Dystrophy
• CHIME Syndrome
• Choanal Atresia
• Choanal Atresia With Radial Ray Hypoplasia
• Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome
• Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome
• Cholangiocarcinoma
• Cholestanol Storage Disease
• Cholestasis Of Pregnancy
• Cholestasis, Progressive Familial Intrahepatic, 4
• Cholestasis, Progressive Familial Intrahepatic, 5
• Cholestasis-Edema Syndrome, Norwegian Type
• Cholestasis-Pigmentary Retinopathy-Cleft Palate Syndrome
• Cholesterol-Ester Transfer Protein Deficiency
• Cholesteryl Ester Storage Disease
• Chondrocalcinosis 2
• Chondrodysplasia Blomstrand Type
• Chondrodysplasia Punctata 2 X-Linked Dominant
• Chondrodysplasia Punctata, MT Type
• Chondrodysplasia Punctata, Toriello Type
• Chondrodysplasia With Joint Dislocations, GPAPP Type
• Chondrodysplasia-Pseudohermaphroditism Syndrome
• Chondromyxoid Fibroma
• Chondrosarcoma
• Chopra-Amiel-Gordon Syndrome
• Chordoma
• Chorea, Benign Familial
• Chorea-Acanthocytosis
• Choroid Plexus Carcinoma
• Choroid Plexus Papilloma
• Choroideremia
• Choroideremia-Deafness-Obesity Syndrome
• Christianson Syndrome
• Chromophobe Renal Cell Carcinoma
• Chromosome 10q23 Deletion Syndrome
• Chromosome 13q14 Deletion Syndrome
• Chromosome 14q11-q22 Deletion Syndrome
• Chromosome 15q11.2 Deletion Syndrome
• Chromosome 15q13.3 Microdeletion Syndrome
• Chromosome 15q24 Deletion Syndrome
• Chromosome 15q26-Qter Deletion Syndrome
• Chromosome 16p11.2 Duplication Syndrome
• Chromosome 16p12.2-p11.2 Deletion Syndrome
• Chromosome 16p13.3 Duplication Syndrome
• Chromosome 17p13.3 Duplication Syndrome
• Chromosome 17q11.2 Deletion Syndrome, 1.4Mb
• Chromosome 17q12 Deletion Syndrome
• Chromosome 17q12 Duplication Syndrome
• Chromosome 17q21.31 Duplication Syndrome
• Chromosome 17q23.1-q23.2 Deletion Syndrome
• Chromosome 19p13.13 Deletion Syndrome
• Chromosome 19q13.11 Deletion Syndrome
• Chromosome 1p32-p31 Deletion Syndrome
• Chromosome 1p36 Deletion Syndrome
• Chromosome 1q21.1 Deletion Syndrome
• Chromosome 1q21.1 Duplication Syndrome
• Chromosome 1q41-q42 Deletion Syndrome
• Chromosome 22q11.2 Deletion Syndrome, Distal
• Chromosome 22q11.2 Microduplication Syndrome
• Chromosome 2p16.1-p15 Deletion Syndrome
• Chromosome 2q32-q33 Deletion Syndrome
• Chromosome 2q37 Deletion Syndrome
• Chromosome 3q13.31 Deletion Syndrome
• Chromosome 3q29 Microdeletion Syndrome
• Chromosome 3q29 Microduplication Syndrome
• Chromosome 4q21 Deletion Syndrome
• Chromosome 5p13 Duplication Syndrome
• Chromosome 5q12 Deletion Syndrome
• Chromosome 6pter-p24 Deletion Syndrome
• Chromosome 6q24-q25 Deletion Syndrome
• Chromosome 8q21.11 Deletion Syndrome
• Chromosome 9p Deletion Syndrome
• Chromosome Xp11.23-p11.22 Duplication Syndrome
• Chromosome Xp21 Deletion Syndrome
• Chronic Atrial And Intestinal Dysrhythmia
• Chronic Beryllium Disease
• Chronic Diarrhea With Villous Atrophy
• Chronic Enteropathy Associated With SLCO2A1 Gene
• Chronic Eosinophilic Leukemia
• Chronic Granulomatous Disease
• Chronic Infantile Neurological, Cutaneous And Articular Syndrome
• Chronic Intestinal Pseudoobstruction
• Chronic Lymphoproliferative Disorder Of NK-Cells
• Chronic Mast Cell Leukemia
• Chronic Mucocutaneous Candidiasis
• Chronic Multifocal Osteomyelitis
• Chronic Myelogenous Leukemia, BCR-ABL1 Positive
• Chronic Myelomonocytic Leukemia
• Chronic Neurovisceral Acid Sphingomyelinase Deficiency
• Chronic Neutrophilic Leukemia
• Chronic Respiratory Distress With Surfactant Metabolism Deficiency
• Chronic Thromboembolic Pulmonary Hypertension
• Chudley-McCullough Syndrome
• Chuvash Polycythemia
• Chylomicron Retention Disease
• Chylous Ascites
• Chédiak-Higashi Syndrome
• CIDEC-Related Familial Partial Lipodystrophy
• Citrullinemia Type I
• Citrullinemia Type II
• CK Syndrome
• CLAPO Syndrome
• Clark-Baraitser Syndrome
• Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase 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 Hodgkin Lymphoma
• Classic Homocystinuria
• Classic Medulloblastoma
• Classic Multiminicore Myopathy
• Classic Pantothenate Kinase-Associated Neurodegeneration
• Classic Pyoderma Gangrenosum
• Classic Stiff Person Syndrome
• Classical Maple Syrup Urine Disease
• Clear Cell Papillary Renal Cell Carcinoma
• Clear Cell Sarcoma Of Kidney
• Cleft Hard Palate
• Cleft Lip And Alveolus
• Cleft Lip And Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome
• Cleft Lip/palate
• Cleft Lip/palate-Ectodermal Dysplasia Syndrome
• Cleft Lip/palate-Intestinal Malrotation-Cardiopathy Syndrome
• Cleft Palate With Or Without Ankyloglossia, X-Linked
• Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To MEIS2 Mutation
• Cleft Palate-Large Ears-Small Head Syndrome
• Cleft Palate-Lateral Synechia Syndrome
• Cleft Palate-Stapes Fixation-Oligodontia Syndrome
• Cleft Soft Palate
• Cleft Upper Lip
• Cleidocranial Dysostosis
• Cleidorhizomelic Syndrome
• Cloacal Exstrophy
• Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
• CLOVES Syndrome
• COACH Syndrome
• Coarctation Of Aorta
• Coats Disease
• Coats Plus Syndrome
• Cobalamin C Disease
• Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
• Cochleosaccular Degeneration-Cataract Syndrome
• Cockayne Syndrome
• Cockayne Syndrome Type 1
• Cockayne Syndrome Type 2
• Cockayne Syndrome Type 3
• Cocoon Syndrome
• CODAS Syndrome
• Coffin-Lowry Syndrome
• Coffin-Siris Syndrome
• COFS Syndrome
• COG1 Congenital Disorder Of Glycosylation
• COG4-Congenital Disorder Of Glycosylation
• COG5-Congenital Disorder Of Glycosylation
• COG6-Congenital Disorder Of Glycosylation
• COG7 Congenital Disorder Of Glycosylation
• COG8-Congenital Disorder Of Glycosylation
• Cognitive Impairment - Coarse Facies - Heart Defects - Obesity - Pulmonary Involvement - Short Stature - Skeletal Dysplasia Syndrome
• Cohen Syndrome
• Cohen-Gibson Syndrome
• Cold-Induced Sweating Syndrome
• Cole-Carpenter Syndrome
• Coloboma Of Choroid And Retina
• Coloboma Of Macula
• Coloboma Of Macula-Brachydactyly Type B Syndrome
• Coloboma Of Optic Nerve
• Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
• Colobomatous Macrophthalmia-Microcornea Syndrome
• Colobomatous Microphthalmia - Obesity - Hypogenitalism - Intellectual Disability Syndrome
• Colobomatous Microphthalmia-Rhizomelic Dysplasia Syndrome
• Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome
• Combined Deficiency Of Factor V And Factor VIII
• Combined Deficiency Of Sialidase AND Beta Galactosidase
• Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
• Combined Immunodeficiency Due To CD3gamma Deficiency
• Combined Immunodeficiency Due To CRAC Channel Dysfunction
• Combined Immunodeficiency Due To DOCK8 Deficiency
• Combined Immunodeficiency Due To GINS1 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 STIM1 Deficiency
• Combined Immunodeficiency Due To STK4 Deficiency
• Combined Immunodeficiency Due To ZAP70 Deficiency
• Combined Immunodeficiency With Skin Granulomas
• Combined Malonic And Methylmalonic Acidemia
• Combined Molybdoflavoprotein Enzyme Deficiency
• 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 30
• 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 Oxidative Phosphorylation Deficiency
• Combined Oxidative Phosphorylation Deficiency 28
• Combined Oxidative Phosphorylation Deficiency 29
• Combined Oxidative Phosphorylation Deficiency 34
• Combined Oxidative Phosphorylation Deficiency 39
• Combined Pancreatic Lipase-Colipase Deficiency
• Combined Pituitary Hormone Deficiencies, Genetic Form
• Combined PSAP Deficiency
• Commissural Facial Cleft
• Common Arterial Trunk With Aortic Dominance
• Common Arterial Trunk With Pulmonary Dominance And Interrupted Aortic Arch
• Complement 3 Glomerulopathy
• Complement Component 2 Deficiency
• Complement Component 3 Deficiency
• Complement Hyperactivation-Angiopathic Thrombosis-Protein-Losing Enteropathy Syndrome
• Complete Androgen Insensitivity Syndrome
• Complete Atrioventricular Canal-Tetralogy Of Fallot Syndrome
• Complete Atrioventricular Canal-Ventricle Hypoplasia Syndrome
• Complete Cryptophthalmia
• Complete Hydatidiform Mole
• Complex Cortical Dysplasia With Other Brain Malformations 1
• Complex Lethal Osteochondrodysplasia
• Complex Neurodevelopmental Disorder
• Complex Regional Pain Syndrome
• Compton-North Congenital Myopathy
• Conductive Deafness-Malformed External Ear Syndrome
• Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
• Cone Dystrophy
• Cone Dystrophy With Supernormal Rod Response
• Cone Monochromatism
• Cone-Rod Dystrophy
• Congenital Absence Of Salivary Gland
• Congenital Adrenal Hyperplasia
• Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
• Congenital Adrenal Hypoplasia, X-Linked
• Congenital Adrenal Insufficiency With 46, XY Sex Reversal OR 46,XY Disorder Of Sex Development-Adrenal Insufficiency Due To CYP11A1 Deficiency
• Congenital Afibrinogenemia
• Congenital Amegakaryocytic Thrombocytopenia 1
• Congenital Analbuminemia
• Congenital Anosmia
• Congenital Atresia Of Colon
• Congenital Autosomal Recessive Small-Platelet Thrombocytopenia
• Congenital Bilateral Absence Of Vas Deferens
• Congenital Bilateral Perisylvian Syndrome
• Congenital Bile Acid Synthesis Defect 1
• Congenital Bile Acid Synthesis Defect 2
• Congenital Bile Acid Synthesis Defect 4
• Congenital Blue Dot Cataract
• Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency
• Congenital Cataract-Microcephaly-Nevus Flammeus Simplex-Severe Intellectual Disability 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 Cerebellar Ataxia Due To RNU12 Mutation
• Congenital Chylothorax
• Congenital Communicating Hydrocephalus
• Congenital Contractural Arachnodactyly
• Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
• Congenital Defect Of Folate Absorption
• Congenital Diaphragmatic Hernia
• Congenital Diarrhea 5 With Tufting Enteropathy
• Congenital Diarrhea 7 With Exudative Enteropathy
• Congenital Disorder Of Deglycosylation 1
• Congenital Disorder Of Glycosylation Type 1E
• Congenital Disorder Of Glycosylation Type 1EE With Or Without Immunodeficiency
• Congenital Disorder Of Glycosylation Type Ir
• Congenital Disorder Of Glycosylation, Type 2v
• Congenital Disorder Of Glycosylation, Type IIq
• Congenital Dyserythropoietic Anemia
• Congenital Dyserythropoietic Anemia Type 4
• Congenital Dyserythropoietic Anemia, Type I
• Congenital Dyserythropoietic Anemia, Type II
• Congenital Dyserythropoietic Anemia, Type III
• Congenital Elevation Of Scapula
• Congenital Factor V Deficiency
• Congenital Factor VII Deficiency
• Congenital Fibrosis Of Extraocular Muscles
• Congenital Generalized Hypercontractile Muscle Stiffness Syndrome
• Congenital Generalized Lipodystrophy Type 1
• Congenital Generalized Lipodystrophy Type 2
• Congenital Generalized Lipodystrophy Type 3
• Congenital Generalized Lipodystrophy Type 4
• Congenital Glucose-Galactose Malabsorption
• Congenital Heart Block
• Congenital Heart Defect-Round Face-Developmental Delay Syndrome
• Congenital Heart Defects And Skeletal Malformations Syndrome
• Congenital Hereditary Endothelial Dystrophy Of Cornea
• Congenital Hereditary Endothelial Dystrophy Type I
• Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome
• Congenital Horner Syndrome
• Congenital Hydrocephalus
• Congenital Hyperammonemia, Type I
• Congenital Hypotrichosis With Juvenile Macular Dystrophy
• Congenital Ichthyosis-Intellectual Disability-Spastic Quadriplegia Syndrome
• Congenital Infiltrating Lipomatosis Of The Face
• Congenital Insensitivity To Pain Syndrome, Marsili Type
• Congenital Insensitivity To Pain With Severe Intellectual Disability
• Congenital Insensitivity To Pain-Hypohidrosis Syndrome
• Congenital Isolated Adrenocorticotropic Hormone Deficiency
• Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
• Congenital Lactase Deficiency
• Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
• Congenital Laryngeal Abductor Palsy
• Congenital Laryngomalacia
• Congenital Lethal Erythroderma
• Congenital Lipoid Adrenal Hyperplasia Due To STAR Deficency
• Congenital Livedo Reticularis
• Congenital Lobar Emphysema
• Congenital Long QT Syndrome
• Congenital Macroglossia
• Congenital Membranous Nephropathy Due To Maternal Anti-Neutral Endopeptidase Alloimmunization
• Congenital Mesoblastic Nephroma
• Congenital Microcephaly - Severe Encephalopathy - Progressive Cerebral Atrophy Syndrome
• Congenital Microvillous Atrophy
• Congenital Miosis
• Congenital Multicore Myopathy With External Ophthalmoplegia
• Congenital Muscular Dystrophy 1B
• Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency
• Congenital Muscular Dystrophy Due To LMNA Mutation
• Congenital Muscular Dystrophy With Intellectual Disability
• Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
• Congenital Muscular Dystrophy Without Intellectual Disability
• Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
• Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
• Congenital Myasthenic Syndrome
• Congenital Myopathy With Fiber Type Disproportion
• 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 Neutropenia-Myelofibrosis-Nephromegaly Syndrome
• Congenital Non-Communicating Hydrocephalus
• Congenital Nonbullous Ichthyosiform Erythroderma
• Congenital Nonprogressive Myopathy With Moebius And Robin Sequences
• Congenital Omphalocele
• Congenital Or Early Infantile CACH Syndrome
• Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
• Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
• Congenital Pontocerebellar Hypoplasia Type 1
• Congenital Posterior Urethral Valve
• Congenital Primary Aphakia
• Congenital Primary Lymphedema Of Gordon
• Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
• Congenital Prothrombin Deficiency
• Congenital Pseudoarthrosis Of Clavicle
• Congenital Pulmonary Lymphangiectasia
• Congenital Reticular Ichthyosiform Erythroderma
• Congenital Secretory Diarrhea, Chloride Type
• Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers
• Congenital Short Bowel Syndrome
• Congenital Sialidosis Type 2
• Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
• Congenital Sodium Diarrhea
• Congenital Stenosis Of Pulmonary Valve
• Congenital Stromal Corneal Dystrophy
• Congenital Total Cataract
• Congenital Total Pulmonary Venous Return Anomaly
• Congenital Tracheal Stenosis
• Congenital Tracheobronchomegaly
• Congenital Trigeminal Anesthesia
• 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 With Cardiac Malformation
• Congenitally Uncorrected Transposition Of The Great Arteries With Coarctation
• Conotruncal Heart Malformations
• Constitutional Megaloblastic Anemia With Severe Neurologic Disease
• Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
• Contractures-Ectodermal Dysplasia-Cleft Lip/palate Syndrome
• Cooks Syndrome
• Cooper-Jabs Syndrome
• COQ7-Related Distal Hereditary Motor Neuropathy
• Cornea Plana
• Corneal Dystrophy-Perceptive Deafness Syndrome
• Corneal Intraepithelial Dyskeratosis-Palmoplantar Hyperkeratosis-Laryngeal Dyskeratosis Syndrome
• Corneal-Cerebellar Syndrome
• Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
• Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
• Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
• Cortical Dysplasia-Focal Epilepsy Syndrome
• Corticosteroid-Binding Globulin Deficiency
• Cortisone Reductase Deficiency
• Costello Syndrome
• Cowden Syndrome
• Coxoauricular Syndrome
• Coxopodopatellar Syndrome
• Cramp-Fasciculation Syndrome
• Crane-Heise Syndrome
• Craniodiaphyseal Dysplasia
• Craniodigital Syndrome And Intellectual Disability Syndrome
• Cranioectodermal Dysplasia
• Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development 1
• Craniofacial Dysplasia - Osteopenia Syndrome
• Craniofacial Dyssynostosis
• Craniofacial Microsomia
• Craniofacial-Deafness-Hand Syndrome
• Craniofaciofrontodigital Syndrome
• Craniofrontonasal Syndrome
• Craniolenticulosutural Dysplasia
• Craniometadiaphyseal Dysplasia Wormian Bone Type
• Craniometaphyseal Dysplasia
• Craniomicromelic Syndrome
• Cranioosteoarthropathy
• Craniopharyngioma
• Craniorachischisis
• Craniorhiny
• Craniosynostosis 2
• Craniosynostosis And Dental Anomalies
• Craniosynostosis, Philadelphia Type
• Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
• Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
• Craniosynostosis-Facial Dysmorphism-Chiari-1 Malformation-Developmental And Language Delay Syndrome
• Craniosynostosis-Intracranial Calcifications Syndrome
• Craniotelencephalic Dysplasia
• Craniotubular Dysplasia, Ikegawa Type
• Creatine Transporter Deficiency
• Creutzfeldt-Jakob Disease, Sporadic
• Crigler-Najjar Syndrome
• Crigler-Najjar Syndrome Type 1
• Crigler-Najjar Syndrome, Type II
• Cronkhite-Canada Syndrome
• Cross Syndrome
• Crossed Polysyndactyly
• Crouzon Syndrome
• Crouzon Syndrome-Acanthosis Nigricans Syndrome
• Cryoglobulinemic Vasculitis
• Cryohydrocytosis
• Cryptogenic Multifocal Ulcerous Stenosing Enteritis
• Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
• Cryptophthalmos Syndrome
• Cryptosporidiosis-Chronic Cholangitis-Liver Disease Syndrome
• CTCF-Related Neurodevelopmental Disorder
• Curly Hair - Acral Keratoderma - Caries Syndrome
• Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome
• Currarino Triad
• Curry-Hall Syndrome
• Curry-Jones Syndrome
• Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
• Cutaneous Mastocytoma
• Cutaneous Photosensitivity-Lethal Colitis Syndrome
• Cutaneous Porphyria
• Cutis Laxa - Marfanoid Syndrome
• Cutis Laxa With Osteodystrophy
• Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies
• Cutis Laxa, Autosomal Dominant
• Cutis Laxa, X-Linked
• Cyclical Neutropenia
• Cyprus Facial-Neuromusculoskeletal Syndrome
• Cystathioninuria
• Cystic Fibrosis
• Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
• Cystic Hygroma
• Cystic Leukoencephalopathy Without Megalencephaly
• Cystinosis
• Cystinuria
• Cystinuria Type A
• Cystinuria Type B
• Cystoid Macular Edema
• Cytosolic Phospholipase-A2 Alpha Deficiency Associated Bleeding Disorder
• Czeizel-Losonci Syndrome

D195▾

• D,L-2-Hydroxyglutaric Aciduria
• D-2-Hydroxyglutaric Aciduria
• D-Glyceric Aciduria
• Dahlberg-Borer-Newcomer Syndrome
• Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
• Dandy-Walker Syndrome
• Danon Disease
• DDX41-Related Hematologic Malignancy Predisposition Syndrome
• De Barsy Syndrome
• De Lange Syndrome
• DE SANCTIS-CACCHIONE SYNDROME
• Deaf Blind Hypopigmentation Syndrome, Yemenite Type
• Deafness Dystonia Syndrome
• Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
• Deafness-Craniofacial Syndrome
• Deafness-Ear Malformation-Facial Palsy Syndrome
• Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
• Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
• Deafness-Hypogonadism Syndrome
• Deafness-Infertility Syndrome
• Deafness-Intellectual Disability, Martin-Probst Type Syndrome
• Deafness-Lymphedema-Leukemia Syndrome
• Deafness-Oligodontia Syndrome
• Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
• Deafness-Vitiligo-Achalasia Syndrome
• Dedifferentiated Liposarcoma
• Deficiency In Anterior Pituitary Function - Variable Immunodeficiency Syndrome
• Deficiency Of 2-Methylbutyryl-CoA Dehydrogenase
• Deficiency Of Acetyl-CoA Acetyltransferase
• Deficiency Of Adenosine Deaminase 2
• Deficiency Of Alpha-Mannosidase
• Deficiency Of Aromatic-L-Amino-Acid Decarboxylase
• Deficiency Of Beta-Ureidopropionase
• Deficiency Of Bisphosphoglycerate Mutase
• Deficiency Of Butyryl-CoA Dehydrogenase
• Deficiency Of Butyrylcholinesterase
• Deficiency Of Ferroxidase
• Deficiency Of Galactokinase
• Deficiency Of Guanidinoacetate Methyltransferase
• Deficiency Of Hyaluronoglucosaminidase
• Deficiency Of Hydroxymethylglutaryl-CoA Lyase
• Deficiency Of Isobutyryl-CoA Dehydrogenase
• Deficiency Of Malonyl-CoA Decarboxylase
• Deficiency Of Mevalonate Kinase
• Deficiency Of Phosphoserine Phosphatase
• Deficiency Of Steroid 11-Beta-Monooxygenase
• Deficiency Of Steroid 17-Alpha-Monooxygenase
• Deficiency Of Transaldolase
• Deficiency Of UDPglucose-Hexose-1-Phosphate Uridylyltransferase
• Dejerine-Sottas Disease
• Delayed Membranous Cranial Ossification
• Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
• Deletion 5q35
• Delpire-McNeill Syndrome
• Delta-Beta-Thalassemia
• DEND Syndrome
• Dengue Disease
• Dent Disease
• Dent Disease Type 1
• Dent Disease Type 2
• Dentatorubral-Pallidoluysian Atrophy
• Dentin Dysplasia
• Dentin Dysplasia Type I
• Dentin Dysplasia Type II
• Dentin Dysplasia-Sclerotic Bones Syndrome
• Dentinogenesis Imperfecta Type 2
• Dentinogenesis Imperfecta Type 3
• Dermatitis Herpetiformis, Familial
• Dermatofibrosarcoma Protuberans
• Dermatoleukodystrophy
• Dermatoosteolysis, Kirghizian Type
• Dermatopathia Pigmentosa Reticularis
• Dermo-Odonto Dysplasia
• DeSanto-Shinawi Syndrome
• DeSanto-Shinawi Syndrome Due To 10p11.21p12.31 Microdeletion
• DeSanto-Shinawi Syndrome Due To WAC Point Mutation
• Desbuquois Syndrome
• Desmin-Related Myopathy With Mallory Body-Like Inclusions
• Desmoid Tumor
• Desmoplastic Small Round Cell Tumor
• Desmoplastic/nodular Medulloblastoma
• Desmosterolosis
• Desquamative Interstitial Pneumonia
• Developmental And Epileptic Encephalopathy, 36
• Developmental And Epileptic Encephalopathy, 39
• Developmental And Epileptic Encephalopathy, 50
• Developmental And Epileptic Encephalopathy, 7
• Developmental And Speech Delay Due To SOX5 Deficiency
• Developmental Delay With Autism Spectrum Disorder And Gait Instability
• Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
• Developmental Delay-Immunodeficiency-Leukoencephalopathy-Hypohomocysteinemia Syndrome
• Developmental Delay-Language Impairment-Dopa Responsive Dystonia-Parkinsonism Syndrome Due To A NR4A2 Point Mutation
• Developmental Malformations-Deafness-Dystonia Syndrome
• Dextro-Looped Transposition Of The Great Arteries
• Diabetes Mellitus, Transient Neonatal, 1
• 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 Dysplasia
• Diaphyseal Medullary Stenosis-Bone Malignancy Syndrome
• Diastematomyelia
• Diastrophic Dysplasia
• Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency
• Diazoxide-Resistant Focal Hyperinsulinism Due To SUR1 Deficiency
• Dicarboxylic Aminoaciduria
• DICER1-Related Tumor Predisposition
• Diencephalic-Mesencephalic Junction Dysplasia
• Differentiated Thyroid Carcinoma
• Diffuse Cerebral And Cerebellar Atrophy - Intractable Seizures - Progressive Microcephaly Syndrome
• Diffuse Cutaneous Systemic Sclerosis
• Diffuse Idiopathic Skeletal Hyperostosis
• Diffuse Midline Glioma, H3 K27-Altered
• Diffuse Nonepidermolytic Palmoplantar Keratoderma
• Diffuse Palmoplantar Keratoderma With Painful Fissures
• Diffuse Panbronchiolitis
• Digenic Alport Syndrome
• Digenic Hemochromatosis
• Digitotalar Dysmorphism
• Dihydropteridine Reductase Deficiency
• Dihydropyrimidinase Deficiency
• Dihydropyrimidine Dehydrogenase Deficiency
• Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
• Dimethylglycine Dehydrogenase Deficiency
• Dislocation Of The Hip-Dysmorphism Syndrome
• Disorder Of Sex Development-Intellectual Disability Syndrome
• Disseminated Superficial Actinic Porokeratosis
• Distal 10q Deletion Syndrome
• Distal 16p11.2 Microdeletion Syndrome
• Distal 17p13.3 Microdeletion Syndrome
• Distal 7q11.23 Microdeletion Syndrome
• Distal Arthrogryposis
• Distal Arthrogryposis Type 10
• Distal Arthrogryposis Type 5D
• Distal Hereditary Motor Neuropathy Type 2
• Distal Hereditary Motor Neuropathy Type 7
• Distal Monosomy 12p
• Distal Monosomy 13q
• Distal Monosomy 1q
• Distal Myopathy With Anterior Tibial Onset
• Distal Myopathy With Posterior Leg And Anterior Hand Involvement
• Distal Myopathy With Vocal Cord Weakness
• Distal Myopathy, Tateyama Type
• Distal Renal Tubular Acidosis
• Distal Symphalangism
• Distal Tetrasomy 15q
• Distal Xq28 Microduplication Syndrome
• Distichiasis-Lymphedema Syndrome
• Diverticulosis Of Bowel, Hernia, And Retinal Detachment
• DK1-Congenital Disorder Of Glycosylation
• DNA Ligase IV Deficiency
• DOCK2 Deficiency
• Dominant Beta-Thalassemia
• Donnai-Barrow Syndrome
• DONSON-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum
• DOORS Syndrome
• Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
• Double Outlet Right Ventricle
• Double Uterus-Hemivagina-Renal Agenesis Syndrome
• Dowling-Degos Disease
• Doyne Honeycomb Retinal Dystrophy
• DPAGT1-Congenital Disorder Of Glycosylation
• DPM3-Congenital Disorder Of Glycosylation
• Drash Syndrome
• Drug- Or Toxin-Induced Pulmonary Arterial Hypertension
• Duane Retraction Syndrome
• Duane Retraction Syndrome With Congenital Deafness
• Duane-Radial Ray Syndrome
• Dubin-Johnson Syndrome
• Dubowitz Syndrome
• Duodenal Atresia
• Dyggve-Melchior-Clausen Syndrome
• DYRK1A-Related Intellectual Disability Syndrome
• DYRK1A-Related Intellectual Disability Syndrome Due To 21q22.13q22.2 Microdeletion
• Dyschromatosis Universalis Hereditaria
• Dysequilibrium Syndrome
• Dyskeratosis Congenita
• Dyskinesia With Orofacial Involvement, Autosomal Dominant
• Dysmorphism-Conductive Hearing Loss-Heart Defect Syndrome
• Dysosteosclerosis
• Dysplasia Epiphysealis Hemimelica
• Dysspondyloenchondromatosis
• Dystonia 12
• Dystonia 16
• Dystonia 21
• Dystonia 23
• Dystonia 24
• Dystonia 25
• Dystonia 27
• Dystonia 28, Childhood-Onset
• Dystonia 9
• Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
• Dystrophic Epidermolysis Bullosa, Nails Only

E146▾

• Early Onset Cerebellar Ataxia With Retained Tendon Reflexes
• Early-Onset Anterior Polar Cataract
• Early-Onset Autoimmunity-Autoinflammation-Immunodeficiency Syndrome
• Early-Onset Autosomal Dominant Alzheimer Disease
• Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia
• Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To GRIN2A Mutation
• Early-Onset Familial Hypoaldosteronism
• Early-Onset Generalized Limb-Onset Dystonia
• Early-Onset Immune Dysregulation Due To DOCK11 Complete Deficiency
• Early-Onset Lafora Body Disease
• Early-Onset Lamellar Cataract
• Early-Onset Myopathy With Fatal Cardiomyopathy
• Early-Onset Nuclear Cataract
• Early-Onset Obesity-Hyperphagia-Severe Developmental Delay Syndrome
• Early-Onset Parkinsonism-Intellectual Disability Syndrome
• Early-Onset Partial Cataract
• Early-Onset Posterior Subcapsular Cataract
• Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
• 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 Sutural Cataract
• Early-Onset Zonular Cataract
• EAST Syndrome
• East Texas Bleeding Disorder
• Ebstein Anomaly
• Ectodermal Dysplasia 8, Hair/tooth/nail Type
• Ectodermal Dysplasia And Immune Deficiency
• Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
• Ectodermal Dysplasia, Trichoodontoonychial Type
• Ectodermal Dysplasia-Blindness Syndrome
• Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
• Ectodermal Dysplasia-Sensorineural Deafness Syndrome
• Ectopic Thyroid
• Ectrodactyly
• Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
• Ectrodactyly-Polydactyly Syndrome
• EDICT Syndrome
• Edinburgh Malformation Syndrome
• EEM Syndrome
• EGF-Related Primary Hypomagnesemia With Intellectual Disability
• Ehlers-Danlos Syndrome
• Ehlers-Danlos Syndrome Due To Tenascin-X Deficiency
• Ehlers-Danlos Syndrome Progeroid Type
• Ehlers-Danlos Syndrome, Arthrochalasia Type
• Ehlers-Danlos Syndrome, Cardiac Valvular Type
• Ehlers-Danlos Syndrome, Classic Type
• Ehlers-Danlos Syndrome, Classic-Like, 2
• Ehlers-Danlos Syndrome, Dermatosparaxis Type
• Ehlers-Danlos Syndrome, Familial Joint Laxity Type
• Ehlers-Danlos Syndrome, Musculocontractural Type
• Ehlers-Danlos Syndrome, Periodontitis Type
• Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
• Ehlers-Danlos Syndrome, Type 3
• Ehlers-Danlos Syndrome, Type 4
• Ehlers-Danlos/osteogenesis Imperfecta Syndrome
• Eiken Syndrome
• Elastosis Perforans Serpiginosa
• Ellis-Van Creveld Syndrome
• Elsahy-Waters Syndrome
• Emanuel Syndrome
• Embryonal Rhabdomyosarcoma
• Emery-Dreifuss Muscular Dystrophy
• Emery-Nelson Syndrome
• EMILIN-1-Related Connective Tissue Disease
• EN1-Related Dorsoventral Syndrome
• Encephalocraniocutaneous Lipomatosis
• Encephalopathy Due To Beta-Mercaptolactate-Cysteine Disulfiduria
• Encephalopathy Due To GLUT1 Deficiency
• Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
• Encephalopathy Due To Sulfite Oxidase Deficiency
• Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
• Encephalopathy, Recurrent, Of Childhood
• Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome
• Enchondromatosis
• Endocardial Fibroelastosis
• Endocrine-Cerebro-Osteodysplasia Syndrome
• Endometrial Stromal Sarcoma
• Eng-Strom Syndrome
• Enterokinase Deficiency
• Ependymal Tumor
• Ependymoma
• EPHB4-Related Lymphatic-Related Hydrops Fetalis
• Epidermodysplasia Verruciformis
• Epidermolysis Bullosa Pruriginosa
• Epidermolysis Bullosa Simplex 1A, Generalized Severe
• Epidermolysis Bullosa Simplex 1C, Localized
• Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive
• Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With BP230 Deficiency
• Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
• Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
• Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
• Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
• Epidermolysis Bullosa Simplex Due To Plakophilin Deficiency
• Epidermolysis Bullosa Simplex With Migratory Circinate Erythema
• Epidermolysis Bullosa Simplex With Mottled Pigmentation
• Epidermolysis Bullosa Simplex, Koebner Type
• Epidermolysis Bullosa Simplex, Ogna Type
• Epidermolytic Palmoplantar Keratoderma, 1
• Epilepsy With Myoclonic Absences
• Epilepsy-Microcephaly-Skeletal Dysplasia Syndrome
• Epilepsy-Telangiectasia Syndrome
• Epiphyseal Dysplasia, Multiple, 7
• Episodic Ataxia Type 1
• Episodic Ataxia Type 2
• Episodic Ataxia Type 3
• Episodic Ataxia Type 4
• Episodic Ataxia Type 5
• Episodic Ataxia Type 6
• Episodic Ataxia Type 7
• Episodic Ataxia Type 8
• Episodic Kinesigenic Dyskinesia
• Episodic Memory Defect Leukoencephalopathy
• Epithelial Basement Membrane Dystrophy
• Epithelial Recurrent Erosion Dystrophy
• Epithelioid Hemangioendothelioma
• Epithelioid Hemangioma
• Ermine Phenotype
• Erythema Palmare Hereditarium
• Erythrocyte Galactose Epimerase Deficiency
• Erythroderma Desquamativum
• Erythrokeratodermia Variabilis
• Esophageal Atresia/tracheoesophageal Fistula
• Esophageal Squamous Cell Carcinoma
• Essential Fructosuria
• Essential Pentosuria
• Essential Thrombocythemia
• Estrogen Resistance Syndrome
• Ethylmalonic Encephalopathy
• Euthyroid Dysprealbuminemic Hyperthyroxinemia
• Euthyroid Goiter
• Even-Plus Syndrome
• Ewing Sarcoma
• Exercise-Induced Hyperinsulinism
• Exercise-Induced Malignant Hyperthermia
• Exfoliative Ichthyosis
• Exostoses-Anetodermia-Brachydactyly Type E Syndrome
• Exstrophy-Epispadias Complex
• Extensor Tendons Of Finger Anomalies
• External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
• Extramammary Paget Disease
• Extraskeletal Ewing Sarcoma
• Extraskeletal Myxoid Chondrosarcoma
• Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
• Eyebrow Duplication-Syndactyly Syndrome
• Eyelid Coloboma

F238▾

• F12-Associated Cold Autoinflammatory Syndrome
• Fabry Disease
• Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, And Gingival Overgrowth Syndrome
• Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome
• Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Spontaneous Filtering Blebs Syndrome
• Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
• Facial Hemiatrophy
• Faciocardiorenal Syndrome
• Faciodigitogenital Syndrome
• Facioscapulohumeral Muscular Dystrophy
• Factor V Amsterdam Bleeding Disorder
• Factor V Atlanta Bleeding Disorder
• Factor V Short Isoforms-Related Bleeding Disorder
• Factor XII Deficiency Disease
• FADD-Related Immunodeficiency
• Fallot Complex-Intellectual Disability-Growth Delay Syndrome
• Familial Abdominal Aortic Aneurysm
• Familial Acute Necrotizing Encephalopathy
• Familial Adenomatous Polyposis 2
• Familial Adrenal Hypoplasia With Absent Pituitary Luteinizing Hormone
• Familial Alzheimer-Like Prion Disease
• Familial Amyloid Nephropathy With Urticaria AND Deafness
• Familial Amyloid Neuropathy
• Familial Angiolipomatosis
• Familial Apolipoprotein C-II Deficiency
• Familial Atrial Fibrillation
• Familial Atrial Myxoma
• Familial Atrioventricular Septal Defect
• Familial Atypical Multiple Mole Melanoma Syndrome
• Familial Avascular Necrosis Of The Femoral Head
• Familial Benign Copper Deficiency
• Familial Benign Flecked Retina
• Familial Benign Pemphigus
• Familial Bicuspid Aortic Valve
• Familial Cavitary Optic Disk Anomaly
• 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 Autoinflammatory Syndrome 2
• Familial Cold Autoinflammatory Syndrome 3
• Familial Cold Autoinflammatory Syndrome 4
• Familial Colorectal Cancer Type X
• Familial Congenital Nasolacrimal Duct Obstruction
• Familial Congenital Palsy Of Trochlear Nerve
• Familial Cutaneous Collagenoma
• Familial Cutaneous Telangiectasia And Oropharyngeal Predisposition Cancer Syndrome
• Familial Cylindromatosis
• Familial Developmental Dysphasia
• Familial Digital Arthropathy-Brachydactyly
• Familial Dysautonomia
• Familial Dysfibrinogenemia
• Familial Encephalopathy With Neuroserpin Inclusion Bodies
• 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 Exudative Vitreoretinopathy
• Familial Focal Epilepsy With Variable Foci
• Familial Gastric Type 1 Neuroendocrine Tumor
• Familial Generalized Lentiginosis
• Familial Gestational Hyperthyroidism
• Familial Glucocorticoid Deficiency
• Familial Hemophagocytic Lymphohistiocytosis
• Familial Hyperaldosteronism Type II
• Familial Hyperaldosteronism Type III
• Familial Hyperinflammatory Lymphoproliferative Immunodeficiency
• Familial Hyperphosphatemic Tumoral Calcinosis/hyperphosphatemic Hyperostosis Syndrome
• Familial Hyperprolactinemia
• Familial Hyperthyroidism Due To Mutations In TSH Receptor
• Familial Hypertryptophanemia
• Familial Hypoaldosteronism
• Familial Hypocalciuric Hypercalcemia
• Familial Hypocalciuric Hypercalcemia 1
• Familial Hypocalciuric Hypercalcemia 2
• Familial Hypocalciuric Hypercalcemia 3
• Familial Hypodysfibrinogenemia
• Familial Hypofibrinogenemia
• Familial Hypokalemia-Hypomagnesemia
• Familial Hypoparathyroidism
• Familial Idiopathic Steroid-Resistant Nephrotic Syndrome
• Familial Infantile Bilateral Striatal Necrosis
• Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form
• Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form
• Familial Isolated Congenital Asplenia
• Familial Isolated Deficiency Of Vitamin E
• Familial Isolated Dilated Cardiomyopathy
• Familial Isolated Hyperparathyroidism
• Familial Isolated Hypoparathyroidism Due To Impaired PTH Secretion
• Familial Isolated Pituitary Adenoma
• Familial Isolated Trichomegaly
• Familial Juvenile Hypertrophy Of The Breast
• Familial Juvenile Hyperuricemic Nephropathy Type 1
• Familial Juvenile Hyperuricemic Nephropathy Type 2
• Familial Median Cleft Of The Upper And Lower Lips
• Familial Mediterranean Fever
• Familial Melanoma
• Familial Mesial Temporal Lobe Epilepsy
• Familial Mitral Valve Prolapse
• Familial Multiple Discoid Fibromas
• Familial Multiple Lipomatosis
• Familial Multiple Meningioma
• Familial Multiple Nevi Flammei
• Familial Multiple Polyposis Syndrome
• Familial Multiple Trichoepitheliomata
• Familial Normokalemic Periodic Paralysis
• Familial Or Sporadic Hemiplegic Migraine
• Familial Osteoarthropathy Of The Fingers
• Familial Osteodysplasia, Anderson Type
• Familial Pancreatic Carcinoma
• Familial Papillary Or Follicular Thyroid Carcinoma
• Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
• Familial Partial Lipodystrophy, Dunnigan Type
• Familial Partial Lipodystrophy, Kobberling Type
• 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 Renal Hypouricemia
• Familial Retinal Arterial Macroaneurysm
• Familial Scaphocephaly Syndrome, McGillivray Type
• Familial Schizencephaly
• Familial Sick Sinus Syndrome
• Familial Spontaneous Pneumothorax
• Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness
• Familial Thoracic Aortic Aneurysm And Aortic Dissection
• Familial Thrombocytosis
• Familial Thyroglossal Duct Cyst
• Familial Thyroid Dyshormonogenesis
• Familial Tumoral Calcinosis
• Familial Type 3 Hyperlipoproteinemia
• Familial Type 5 Hyperlipoproteinemia
• Familial Vesicoureteral Reflux
• Familial Visceral Amyloidosis, Ostertag Type
• Familial X-Linked Hypophosphatemic Vitamin D Refractory Rickets
• Fanconi Anemia
• Fanconi Anemia Complementation Group D1
• Fanconi-Bickel Syndrome
• Farber Lipogranulomatosis
• Fasciitis With Eosinophilia Syndrome
• FASTKD2-Related Infantile Mitochondrial Encephalomyopathy
• Fatal Familial Insomnia
• Fatal Infantile Hypertonic Myofibrillar Myopathy
• Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3
• Fatal Post-Viral Neurodegenerative Disorder
• Fatty Acid Hydroxylase-Associated Neurodegeneration
• Fatty Acyl-CoA Reductase 1 Deficiency
• FBLN1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
• Feingold Syndrome
• Feingold Syndrome Type 1
• Feingold Syndrome Type 2
• Felty Syndrome
• Female Infertility Due To Oocyte Meiotic Arrest
• Female Infertility Due To Zona Pellucida Defect
• Femoral Hypoplasia - Unusual Facies Syndrome
• Femur-Fibula-Ulna Complex
• Ferro-Cerebro-Cutaneous Syndrome
• Fetal Akinesia Deformation Sequence
• Fetal Akinesia-Cerebral And Retinal Hemorrhage Syndrome
• Fetal And Neonatal Alloimmune Thrombocytopenia
• Fetal Iodine Syndrome
• FG Syndrome 1
• Fibrillary Astrocytoma
• Fibrochondrogenesis
• Fibrolamellar Hepatocellular Carcinoma
• Fibronectin Glomerulopathy
• Fibrosarcoma
• Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
• Fibrotic Hypersensitivity Pneumonitis
• Fibrous Dysplasia Of Jaw
• Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
• Fibular Aplasia-Ectrodactyly Syndrome
• Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
• Filippi Syndrome
• Fine-Lubinsky Syndrome
• Fingerprint Body Myopathy
• Finnish Congenital Nephrotic Syndrome
• Finnish Type Amyloidosis
• Finnish Upper Limb-Onset Distal Myopathy
• Fish-Eye Disease
• Fixed Subaortic Stenosis
• Flat Face-Microstomia-Ear Anomaly Syndrome
• Fleck Corneal Dystrophy
• Floating-Harbor Syndrome
• Flynn-Aird Syndrome
• Focal Dermal Hypoplasia
• 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 Palmoplantar And Gingival Keratoderma
• Focal Palmoplantar Keratoderma With Joint Keratoses
• Focal Stiff Limb Syndrome
• Follicular Atrophoderma And Basal Cell Epitheliomata
• Follicular Lymphoma
• Fontaine Progeroid Syndrome
• Fountain Syndrome
• Foveal Hypoplasia - Optic Nerve Decussation Defect - Anterior Segment Dysgenesis Syndrome
• Foveal Hypoplasia-Presenile Cataract Syndrome
• Fowler Syndrome
• FOXG1 Disorder
• Fragile X Syndrome
• Fragile X-Associated Tremor/ataxia Syndrome
• Francois Syndrome
• Frank-Ter Haar Syndrome
• Frasier Syndrome
• FRAXE
• FRAXF Syndrome
• Free Sialic Acid Storage Disease
• Freeman-Sheldon Syndrome
• Frias Syndrome
• Fried Syndrome
• Friedreich Ataxia
• Frontometaphyseal Dysplasia
• Frontonasal Dysplasia - Severe Microphthalmia - Severe Facial Clefting Syndrome
• Frontonasal Dysplasia With Alopecia And Genital Anomaly
• Frontorhiny
• Frontotemporal Dementia
• Frontotemporal Dementia With Motor Neuron Disease
• Fructose-Biphosphatase Deficiency
• Fryns Syndrome
• Fuchs' Endothelial Dystrophy
• Fucosidosis
• Fuhrmann Syndrome
• Fumarase Deficiency
• Fused Mandibular Incisors

G151▾

• Gabriele De Vries Syndrome
• Galactosemia 4
• Galactosylceramide Beta-Galactosidase Deficiency
• Galloway-Mowat Syndrome
• Gamma-Aminobutyric Acid Transaminase Deficiency
• Gamma-Glutamylcysteine Synthetase Deficiency
• Gamma-Glutamyltransferase Deficiency
• Ganglioneuroblastoma
• Ganglioneuroma
• GAPO Syndrome
• Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
• Gastric Mucosal Hypertrophy
• Gastric Neuroendocrine Neoplasm
• Gastrocutaneous Syndrome
• Gastrointestinal Stromal Tumor
• Gastroschisis
• Gaucher Disease
• Gaucher Disease Due To Saposin C Deficiency
• Gaucher Disease Perinatal Lethal
• Gaucher Disease Type I
• Gaucher Disease Type II
• Gaucher Disease Type III
• Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
• GCGR-Related Hyperglucagonemia
• Gelatinous Droplike Corneal Dystrophy
• Geleophysic Dysplasia
• Gemistocytic Astrocytoma
• Generalized Basaloid Follicular Hamartoma Syndrome
• Generalized Dominant Dystrophic Epidermolysis Bullosa
• Generalized Epilepsy With Febrile Seizures Plus
• Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
• Generalized Galactose Epimerase Deficiency
• Generalized Junctional Epidermolysis Bullosa Non-Herlitz Type
• Generalized Juvenile Polyposis/juvenile Polyposis Coli
• Generalized Peeling Skin Syndrome
• Genetic Central Precocious Puberty In Female
• Genetic Central Precocious Puberty In Male
• Genetic Developmental And Epileptic Encephalopathy
• Genito-Palato-Cardiac Syndrome
• Genitopatellar Syndrome
• Genochondromatosis Type 1
• Genochondromatosis Type 2
• Germ Cell Tumor Of Testis
• Geroderma Osteodysplastica
• Gerstmann-Straussler-Scheinker Syndrome
• Ghosal Hematodiaphyseal Dysplasia
• Giant Axonal Neuropathy 1
• Giant Axonal Neuropathy 2
• Giant Cell Glioblastoma
• Gigantiform Cementoma
• Gigantism
• Gillespie Syndrome
• Gingival Fibromatosis-Facial Dysmorphism Syndrome
• Gingival Fibromatosis-Hypertrichosis Syndrome
• Gingival Fibromatosis-Progressive Deafness Syndrome
• Gitelman-Like Kidney Tubulopathy Due To Mitochondrial DNA Mutation
• GJC2-Related Late-Onset Primary Lymphedema
• Glanzmann Thrombasthenia
• Glaucoma Secondary To Spherophakia/ectopia Lentis And Megalocornea
• Glaucoma-Sleep Apnea Syndrome
• Glioblastoma
• Glioma
• Gliosarcoma
• Global Developmental Delay - Lung Cysts - Overgrowth - Wilms Tumor Syndrome
• Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
• Glomuvenous Malformation
• Glucocorticoid Deficiency With Achalasia
• Glucocorticoid Resistance
• Glucocorticoid-Remediable Aldosteronism
• Glucose-6-Phosphate Transport Defect
• Glutamate Formiminotransferase Deficiency
• Glutaric Aciduria, Type 1
• Glutaryl-CoA Oxidase 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
• Glycine N-Methyltransferase Deficiency
• Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
• Glycogen Storage Disease Due To Acid Maltase Deficiency, Late-Onset
• Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type IA
• Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form
• Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form
• Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form
• Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form
• Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form
• Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form
• Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form
• 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 Liver Phosphorylase Kinase 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 IXd
• Glycogen Storage Disease Type III
• Glycogen Storage Disease Type X
• Glycogen Storage Disease XV
• Glycogen Storage Disease, Type I
• Glycogen Storage Disease, Type II
• Glycogen Storage Disease, Type IV
• Glycogen Storage Disease, Type V
• Glycogen Storage Disease, Type VI
• Glycogen Storage Disease, Type VII
• Glycogen Storage Disorder Due To Hepatic Glycogen Synthase Deficiency
• GM1 Gangliosidosis
• GM1 Gangliosidosis Type 2
• GM1 Gangliosidosis Type 3
• GM3 Synthase Deficiency
• GMS Syndrome
• GNAO1-Related Developmental Delay-Seizures-Movement Disorder Spectrum
• Gnathodiaphyseal Dysplasia
• Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
• GNE Myopathy
• GNPTG-Mucolipidosis
• Goldberg-Shprintzen Syndrome
• Goldmann-Favre Syndrome
• Gollop Syndrome
• Gollop-Wolfgang Complex
• Gomez Lopez Hernandez Syndrome
• Gonadotropin-Independent Familial Sexual Precocity
• Gordon Syndrome
• Gorham-Stout Disease
• Gorlin Syndrome
• GRACILE Syndrome
• Graft Versus Host Disease
• Graham Little-Piccardi-Lassueur Syndrome
• Grange Syndrome
• Grant Syndrome
• Granulomatosis With Polyangiitis
• Gray Platelet Syndrome
• Grebe Syndrome
• Greenberg Dysplasia
• Greig Cephalopolysyndactyly Syndrome
• Greig Cephalopolysyndactyly-Contiguous Gene Syndrome
• Griscelli Syndrome
• Griscelli Syndrome Type 1
• Griscelli Syndrome Type 2
• Griscelli Syndrome Type 3
• Groenouw Corneal Dystrophy Type I
• 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 Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy
• Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome
• Grubben-De Cock-Borghgraef Syndrome
• GTP Cyclohydrolase I Deficiency With Hyperphenylalaninemia
• Guttmacher Syndrome

H356▾

• H Syndrome
• Haddad Syndrome
• Haim-Munk Syndrome
• Hairy Cell Leukemia
• Hairy Cell Leukemia Variant
• Hajdu-Cheney Syndrome
• Hall-Riggs Syndrome
• Hallermann-Streiff Syndrome
• Hallux Varus-Preaxial Polysyndactyly Syndrome
• Hamel Cerebro-Palato-Cardiac Syndrome
• Hand-Foot-Genital Syndrome
• Hao-Fountain Syndrome
• Hao-Fountain Syndrome Due To 16p13.2 Microdeletion
• Hao-Fountain Syndrome Due To USP7 Mutation
• Harderoporphyria
• Harel-Yoon Syndrome
• Harrod Syndrome
• Hartsfield-Bixler-Demyer Syndrome
• Hawkinsinuria
• Hb SS Disease
• Heart Defect - Tongue Hamartoma - Polysyndactyly Syndrome
• Heart Defects-Limb Shortening Syndrome
• Heart-Hand Syndrome Type 3
• Heart-Hand Syndrome, Slovenian Type
• HEC Syndrome
• Hecht Syndrome
• Helicoid Peripapillary Chorioretinal Degeneration
• HELIX Syndrome
• HELLP Syndrome
• Heme Oxygenase 1 Deficiency
• Hemifacial Hypertrophy
• Hemifacial Myohyperplasia
• Hemihyperplasia-Multiple Lipomatosis Syndrome
• Hemimegalencephaly
• Hemochromatosis Type 3
• Hemochromatosis Type 4
• Hemochromatosis Type 5
• Hemoglobin Bart Hydrops Syndrome
• Hemoglobin C-Beta-Thalassemia Syndrome
• Hemoglobin D Disease
• Hemoglobin E Disease
• Hemoglobin H Disease
• Hemoglobin M Disease
• Hemolytic Anemia Due To Adenylate Kinase Deficiency
• Hemolytic Anemia Due To Glucophosphate Isomerase Deficiency
• Hemolytic Anemia Due To Glutathione Reductase Deficiency
• Hemolytic Anemia Due To Hexokinase Deficiency
• Hemolytic Anemia Due To Pyrimidine 5' Nucleotidase Deficiency
• Hemorrhagic Disease Due To Alpha-1-Antitrypsin Pittsburgh Mutation
• Hengel-Maroofian-Schols Syndrome
• Hennekam Lymphangiectasia-Lymphedema Syndrome
• Hennekam-Beemer Syndrome
• Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
• Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
• Hepatoblastoma
• Hepatocellular Carcinoma
• Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1
• Hepatoerythropoietic Porphyria
• Hereditary Acrodermatitis Enteropathica
• Hereditary Angioedema Type 1
• Hereditary Angioedema Type 3
• Hereditary Angioedema With C1Inh Deficiency
• Hereditary Angioedema With Normal C1inh Not Related To F12 Or PLG Variant
• Hereditary Angioneurotic Edema
• Hereditary Antithrombin Deficiency
• Hereditary Arginine Vasopressin Deficiency
• Hereditary Arterial And Articular Multiple Calcification Syndrome
• Hereditary Benign Intraepithelial Dyskeratosis
• Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor
• Hereditary Cavernous Hemangioma Of Brain
• Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
• Hereditary Cerebral Hemorrhage With Amyloidosis
• Hereditary Clear Cell Renal Cell Carcinoma
• Hereditary Continuous Muscle Fiber Activity
• Hereditary Coproporphyria
• Hereditary Cryohydrocytosis With Reduced Stomatin
• Hereditary Diffuse Gastric Adenocarcinoma
• Hereditary Elliptocytosis
• Hereditary Factor I Deficiency Disease
• Hereditary Factor IX Deficiency Disease
• Hereditary Factor VIII Deficiency Disease
• Hereditary Factor X Deficiency Disease
• Hereditary Factor XI Deficiency Disease
• Hereditary Factor XIII Deficiency Disease
• Hereditary Fructosuria
• Hereditary Geniospasm
• Hereditary Gingival Fibromatosis
• Hereditary Hemorrhagic Telangiectasia
• Hereditary Hollow Viscus Myopathy
• Hereditary Hypercarotenemia And Vitamin A Deficiency
• Hereditary Hyperekplexia
• Hereditary Hyperferritinemia With Congenital Cataracts
• Hereditary Hypotrichosis With Recurrent Skin Vesicles
• Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome
• Hereditary Insensitivity To Pain With Anhidrosis
• Hereditary Intrinsic Factor Deficiency
• Hereditary Leiomyomatosis And Renal Cell Cancer
• Hereditary Liability To Pressure Palsies
• Hereditary Methemoglobinemia
• Hereditary Mixed Polyposis Syndrome
• Hereditary Motor And Sensory Neuropathy With Optic Atrophy
• Hereditary Motor And Sensory Neuropathy, Okinawa Type
• Hereditary Mucoepithelial Dysplasia
• Hereditary Myopathy With Lactic Acidosis Due To ISCU Deficiency
• Hereditary Neurocutaneous Angiomata
• Hereditary Neuroendocrine Tumor Of Small Intestine
• Hereditary Neutrophilia
• Hereditary North American Indian Childhood Cirrhosis
• Hereditary Orotic Aciduria
• Hereditary Painful Callosities
• Hereditary Pancreatitis
• Hereditary Papillary Renal Cell Carcinoma
• Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
• Hereditary Persistence Of Fetal Hemoglobin-Intellectual Disability Syndrome
• Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
• Hereditary Pheochromocytoma And Paraganglioma
• Hereditary Progressive Mucinous Histiocytosis
• Hereditary Pulmonary Alveolar Proteinosis
• Hereditary Recurrent Myoglobinuria
• Hereditary Retinoblastoma
• Hereditary Sclerosing Poikiloderma
• Hereditary Sclerosing Poikiloderma With Tendon And Pulmonary Involvement
• Hereditary Sensorimotor Neuropathy With Hyperelastic Skin
• Hereditary Sensory And Autonomic Neuropathy Type 1
• Hereditary Sensory And Autonomic Neuropathy Type 1B
• Hereditary Sensory And Autonomic Neuropathy Type 2
• Hereditary Sensory And Autonomic Neuropathy Type 6
• Hereditary Sensory And Autonomic Neuropathy Type 7
• Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
• Hereditary Spastic Paraplegia 10
• Hereditary Spastic Paraplegia 11
• Hereditary Spastic Paraplegia 12
• Hereditary Spastic Paraplegia 13
• Hereditary Spastic Paraplegia 14
• Hereditary Spastic Paraplegia 15
• Hereditary Spastic Paraplegia 16
• Hereditary Spastic Paraplegia 17
• Hereditary Spastic Paraplegia 18
• Hereditary Spastic Paraplegia 19
• Hereditary Spastic Paraplegia 2
• Hereditary Spastic Paraplegia 23
• Hereditary Spastic Paraplegia 24
• Hereditary Spastic Paraplegia 25
• Hereditary Spastic Paraplegia 26
• Hereditary Spastic Paraplegia 27
• Hereditary Spastic Paraplegia 28
• Hereditary Spastic Paraplegia 29
• Hereditary Spastic Paraplegia 30
• Hereditary Spastic Paraplegia 31
• Hereditary Spastic Paraplegia 32
• Hereditary Spastic Paraplegia 35
• Hereditary Spastic Paraplegia 36
• Hereditary Spastic Paraplegia 37
• Hereditary Spastic Paraplegia 38
• Hereditary Spastic Paraplegia 39
• Hereditary Spastic Paraplegia 3A
• Hereditary Spastic Paraplegia 4
• Hereditary Spastic Paraplegia 41
• Hereditary Spastic Paraplegia 43
• Hereditary Spastic Paraplegia 44
• Hereditary Spastic Paraplegia 45
• Hereditary Spastic Paraplegia 46
• Hereditary Spastic Paraplegia 48
• Hereditary Spastic Paraplegia 49
• Hereditary Spastic Paraplegia 53
• Hereditary Spastic Paraplegia 54
• Hereditary Spastic Paraplegia 55
• Hereditary Spastic Paraplegia 56
• Hereditary Spastic Paraplegia 57
• Hereditary Spastic Paraplegia 5A
• Hereditary Spastic Paraplegia 6
• Hereditary Spastic Paraplegia 61
• Hereditary Spastic Paraplegia 62
• Hereditary Spastic Paraplegia 63
• Hereditary Spastic Paraplegia 64
• Hereditary Spastic Paraplegia 7
• Hereditary Spastic Paraplegia 72
• Hereditary Spastic Paraplegia 74
• Hereditary Spastic Paraplegia 75
• Hereditary Spastic Paraplegia 77
• Hereditary Spastic Paraplegia 8
• Hereditary Spastic Paraplegia 9A
• Hereditary Spherocytosis
• Hereditary Thermosensitive Neuropathy
• Hereditary Thrombocytopenia And Hematologic Cancer Predisposition Syndrome
• Hereditary Thrombocytosis With Transverse Limb Defect
• Hereditary Thrombophilia Due To Congenital Histidine-Rich (poly-L) Glycoprotein Deficiency
• Hereditary Thrombophilia Due To Congenital Protein C Deficiency
• Hereditary Thrombophilia Due To Congenital Protein S Deficiency
• Hereditary Xanthinuria
• Hereditary Xanthinuria Type 1
• Heritable Pulmonary Arterial Hypertension
• Hermansky-Pudlak Syndrome
• Hermansky-Pudlak Syndrome 2
• Hermansky-Pudlak Syndrome 7
• Hermansky-Pudlak Syndrome 8
• Hermansky-Pudlak Syndrome 9
• Hermansky-Pudlak Syndrome With Pulmonary Fibrosis
• Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis
• Herpes Simplex Encephalitis
• Heyn-Sproul-Jackson Syndrome
• Hidrotic Ectodermal Dysplasia Syndrome
• Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
• High Bone Mass Osteogenesis Imperfecta
• High Grade B-Cell Lymphoma With MYC And/ Or BCL2 And/or BCL6 Rearrangement
• High Molecular Weight Kininogen Deficiency
• High Myopia-Sensorineural Deafness Syndrome
• High-Grade Astrocytoma With Piloid Features
• Hip Dysplasia, Beukes Type
• Hirschsprung Disease-Ganglioneuroblastoma Syndrome
• Hirschsprung Disease-Hearing Loss-Polydactyly Syndrome
• Hirschsprung Disease-Nail Hypoplasia-Dysmorphism Syndrome
• Hirschsprung Disease-Type D Brachydactyly Syndrome
• Histidine Transport Defect
• Histidinemia
• Histiocytic Medullary Reticulosis
• Histiocytoid Cardiomyopathy
• HNSHA Due To Aldolase A Deficiency
• Holmes-Adie Syndrome
• Holocarboxylase Synthetase Deficiency
• Holoprosencephaly Sequence
• Holoprosencephaly-Craniosynostosis Syndrome
• Holoprosencephaly-Hypokinesia-Congenital Contractures Syndrome
• Holoprosencephaly-Postaxial Polydactyly Syndrome
• Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
• Holt-Oram Syndrome
• Holzgreve-Wagner-Rehder Syndrome
• Homocarnosinosis
• Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
• Homocystinuria Without Methylmalonic Aciduria
• Homozygous Familial Hypercholesterolemia
• Horizontal Gaze Palsy With Progressive Scoliosis
• Hot Water Reflex Epilepsy
• Hoyeraal-Hreidarsson Syndrome
• HSD10 Disease, Atypical Type
• HSD10 Disease, Infantile Type
• HSD10 Disease, Neonatal Type
• HSD10 Mitochondrial Disease
• HTLV-1-Associated Myelopathy-Tropical Spastic Paraparesis
• HTRA1-Related Autosomal Dominant Cerebral Small Vessel Disease
• Human HOXA1 Syndromes
• Humeroradial Synostosis
• Humerus Trochlea Aplasia
• Hunter-McAlpine Craniosynostosis
• Huntington Disease
• Huntington Disease-Like 1
• Huntington Disease-Like 2
• Huntington Disease-Like 3
• Huntington Disease-Like Syndrome Due To C9ORF72 Expansions
• Huppke-Brendel Syndrome
• Hurler Syndrome
• Hutchinson-Gilford Syndrome
• Hyaline Body Myopathy
• Hydatidiform Mole
• Hydranencephaly
• Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
• Hydrocephaly-Cerebellar Agenesis Syndrome
• Hydrocephaly-Tall Stature-Joint Laxity Syndrome
• Hydrolethalus Syndrome
• Hydrops Fetalis
• Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome
• Hydroxykynureninuria
• Hyper-Beta-Alaninemia
• Hyper-IgE Recurrent Infection Syndrome 1, Autosomal Dominant
• Hyper-IgE Recurrent Infection Syndrome 3, Autosomal Recessive
• Hyper-IgM Syndrome Type 1
• Hyper-IgM Syndrome Type 2
• Hyper-IgM Syndrome Type 3
• Hyper-IgM Syndrome Type 4
• Hyper-IgM Syndrome Type 5
• Hyperaldosteronism, Familial, Type IV
• Hyperammonemia, Type III
• Hyperammonemic Encephalopathy Due To Carbonic Anhydrase VA Deficiency
• Hyperbiliverdinemia
• Hypercholanemia, Familial
• Hypercholesterolemia Due To Cholesterol 7alpha-Hydroxylase Deficiency
• Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency
• Hypergonadotropic Hypogonadism-Cataract Syndrome
• Hyperhidrosis, Premature Cavities And Premolar Aplasia
• Hyperimmunoglobulin D With Periodic Fever
• Hyperinsulinemic Hypoglycemia, Familial, 4
• Hyperinsulinism Due To Glucokinase Deficiency
• Hyperinsulinism Due To HNF1A Deficiency
• Hyperinsulinism Due To HNF4A Deficiency
• Hyperinsulinism Due To INSR Deficiency
• Hyperinsulinism Due To UCP2 Deficiency
• Hyperinsulinism-Hyperammonemia Syndrome
• Hyperkalemic Periodic Paralysis
• Hyperkeratosis Lenticularis Perstans
• Hyperkeratosis-Hyperpigmentation Syndrome
• Hyperlipidemia Due To Hepatic Triglyceride Lipase Deficiency
• Hyperlipoproteinemia, Type 1D
• Hyperlipoproteinemia, Type I
• Hyperlysinemia
• Hypermanganesemia With Dystonia 2
• Hypermanganesemia With Dystonia, Polycythemia, And Cirrhosis
• Hypermethioninemia With Deficiency Of S-Adenosylhomocysteine Hydrolase
• Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
• Hyperostosis Cranialis Interna
• Hyperostosis Interna Frontalis
• Hyperparathyroidism 2 With Jaw Tumors
• Hyperphenylalaninemia Due To DNAJC12 Deficiency
• Hyperphenylalaninemia Due To Tetrahydrobiopterin Deficiency
• Hyperphosphatasemia Tarda
• Hyperphosphatasemia With Bone Disease
• Hyperphosphatasia-Intellectual Disability Syndrome
• Hyperplastic Polyposis Syndrome
• Hyperprolinemia
• Hyperprolinemia Type 2
• Hypersensitivity Pneumonitis
• Hypertelorism, Microtia, Facial Clefting Syndrome
• Hypertelorism-Preauricular Sinus-Punctual Pits-Deafness Syndrome
• Hypertrichosis Cubiti-Short Stature Syndrome
• Hypertrichosis Lanuginosa Congenita
• Hypertrichotic Osteochondrodysplasia Cantu Type
• Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome
• Hyperzincemia And Hypercalprotectinemia
• Hypochondrogenesis
• Hypochondroplasia
• Hypocomplementemic Urticarial Vasculitis
• Hypogonadism With Anosmia
• Hypogonadotropic Hypogonadism 24 Without Anosmia
• Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
• Hypohidrotic Ectodermal Dysplasia
• Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
• Hypohidrotic X-Linked Ectodermal Dysplasia
• Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
• Hypokalemic Periodic Paralysis
• Hypomandibular Faciocranial Dysostosis
• Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism
• Hypomyelinating Leukodystrophy 3
• Hypomyelinating Leukodystrophy 6
• Hypomyelination And Congenital Cataract
• Hypomyelination Neuropathy-Arthrogryposis Syndrome
• Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity
• Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome
• Hypoparathyroidism - X-Linked
• Hypoparathyroidism, Deafness, Renal Disease Syndrome
• Hypophosphatasia
• Hypopigmentation-Punctate Palmoplantar Keratoderma Syndrome
• Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome
• Hypoplastic Left Heart Syndrome
• Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome
• Hypospadias-Intellectual Disability, Goldblatt Type Syndrome
• Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
• Hypothyroidism Due To TSH Receptor Mutations
• Hypothyroidism, Congenital, Nongoitrous, 7
• Hypotonia With Lactic Acidemia And Hyperammonemia
• Hypotonia, Ataxia, And Delayed Development Syndrome
• Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies
• Hypotonia-Cystinuria Syndrome
• Hypotonia-Failure To Thrive-Microcephaly Syndrome
• Hypotrichosis Simplex
• Hypotrichosis Simplex Of The Scalp
• Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
• Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome

I181▾

• ICHAD Syndrome
• Ichthyosis Bullosa Of Siemens
• Ichthyosis Hystrix Gravior
• Ichthyosis Hystrix Of Curth-Macklin
• Ichthyosis Prematurity Syndrome
• Ichthyosis, Cerebellar Degeneration And Hepatosplenomegaly
• Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
• Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
• Ichthyosis-Oral And Digital Anomalies Syndrome
• Idiopathic Achalasia
• Idiopathic Aplastic Anemia
• Idiopathic Bronchiectasis
• Idiopathic CD4 Lymphocytopenia
• Idiopathic Copper-Associated Cirrhosis
• Idiopathic Hypercalciuria
• Idiopathic Hypereosinophilic Syndrome
• Idiopathic Juvenile Osteoporosis
• Idiopathic Membranous Glomerulonephritis
• Idiopathic Pulmonary Hemosiderosis
• Idiopathic Spontaneous Coronary Artery Dissection
• Idiopathic Steroid-Sensitive Nephrotic Syndrome
• IFAP Syndrome
• IgG4-Related Retroperitoneal Fibrosis
• IL10-Related Early-Onset Inflammatory Bowel Disease
• IL21-Related Infantile Inflammatory Bowel Disease
• Imagawa-Matsumoto Syndrome
• IMAGe Syndrome
• Imerslund-Grasbeck Syndrome
• Iminoglycinuria
• Immature Ovarian Teratoma
• Immune Deficiency Due To Impaired Neutrophil Phagocytosis And Migration
• Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome
• Immunodeficiency 102
• Immunodeficiency 14
• Immunodeficiency 23
• Immunodeficiency 32B
• Immunodeficiency 36 With Lymphoproliferation
• Immunodeficiency 67
• Immunodeficiency 76
• Immunodeficiency Due To A Late Component Of Complement Deficiency
• Immunodeficiency Due To CD25 Deficiency
• Immunodeficiency Due To ficolin3 Deficiency
• Immunodeficiency Due To MASP-2 Deficiency
• Immunodeficiency With Factor H Anomaly
• Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis
• Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
• Inclusion Body Myositis
• Incontinentia Pigmenti Syndrome
• Infantile Bilateral Striatal Necrosis
• Infantile Cerebellar-Retinal Degeneration
• Infantile Cerebral And Cerebellar Atrophy With Postnatal Progressive Microcephaly
• Infantile Choroidocerebral Calcification Syndrome
• Infantile Cortical Hyperostosis
• Infantile Epileptic Dyskinetic Encephalopathy
• Infantile Glycine Encephalopathy
• Infantile GM1 Gangliosidosis
• Infantile Hypertrophic Cardiomyopathy Due To MRPL44 Deficiency
• Infantile Hypophosphatasia
• Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
• Infantile Krabbe Disease
• Infantile Liver Failure
• Infantile Liver Failure Syndrome 1
• Infantile Myofibromatosis
• Infantile Nephronophthisis
• Infantile Nephropathic Cystinosis
• Infantile Neuroaxonal Dystrophy
• Infantile Onset Spinocerebellar Ataxia
• Infantile Osteopetrosis With Neuroaxonal Dysplasia
• 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 Generalized Dyskinesia With Orofacial Involvement
• Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression
• Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia
• Infantile-Onset X-Linked Spinal Muscular Atrophy
• Infertility Associated With Multi-Tailed Spermatozoa And Excessive DNA
• Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
• Inflammatory Breast Carcinoma
• Inflammatory Myofibroblastic Tumor
• Inherited Acute Myeloid Leukemia
• Inherited Creutzfeldt-Jakob Disease
• Inherited Glutathione Synthetase Deficiency
• Inherited Isolated Adrenal Insufficiency Due To Partial CYP11A1 Deficiency
• Inherited Prekallikrein Deficiency
• Inherited Pseudoxanthoma Elasticum
• Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome
• Insulin-Resistant Diabetes Mellitus AND Acanthosis Nigricans
• Intellectual Developmental Disorder With Autism And Macrocephaly
• Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
• Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
• Intellectual Developmental Disorder With Gastrointestinal Difficulties And High Pain Threshold
• Intellectual Disability Syndrome Due To A DYRK1A Point Mutation
• Intellectual Disability, Anterior Maxillary Protrusion, And Strabismus
• Intellectual Disability, Autosomal Dominant 57
• Intellectual Disability, Autosomal Recessive 53
• Intellectual Disability, Buenos-Aires Type
• Intellectual Disability, Wolff Type
• Intellectual Disability, X-Linked 49
• Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
• Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
• Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
• Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
• Intellectual Disability-Early-Onset Cataract-Microcephaly Syndrome
• Intellectual Disability-Epilepsy-Dental Anomalies-Facial Dysmorphism Syndrome
• Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
• Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
• Intellectual Disability-Hypotonia-Spasticity-Sleep Disorder Syndrome
• Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities 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-Severe Speech Delay-Mild Dysmorphism Syndrome
• Intellectual Disability-Spasticity-Ectrodactyly Syndrome
• Intellectual Disability-Strabismus Syndrome
• Interdigitating Dendritic Cell Sarcoma
• Intermediate Collagen VI-Related Muscular Dystrophy
• Intermediate DEND Syndrome
• Intermediate Maple Syrup Urine Disease
• Intermediate Nemaline Myopathy
• Intermediate Severe Salla Disease
• Intermittent Hydrarthrosis
• Intermittent Maple Syrup Urine Disease
• Interstitial Lung Disease Due To ABCA3 Deficiency
• Interventricular Septum Aneurysm
• Intestinal Hypomagnesemia 1
• Intestinal Obstruction In The Newborn Due To Guanylate Cyclase 2C Deficiency
• Intrauterine Growth Restriction-Congenital Multiple Café-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome
• Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
• Intravascular Large B-Cell Lymphoma
• Irido-Corneo-Trabecular Dysgenesis
• Iris Coloboma
• Iris Melanoma
• Iron-Refractory Iron Deficiency Anemia
• Isolated Anencephaly
• Isolated Anhidrosis With Normal Sweat Glands
• Isolated Aniridia
• Isolated Anophthalmia-Microphthalmia Syndrome
• Isolated Anterior Cervical Hypertrichosis
• Isolated Asymptomatic Elevation Of Creatine Phosphokinase
• Isolated Autosomal Dominant Hypomagnesemia, Glaudemans Type
• Isolated Bone Marrow Mastocytosis
• Isolated Cleft Palate
• Isolated Congenital Alacrima
• Isolated Congenital Breast Hypoplasia/aplasia
• Isolated Congenital Digital Clubbing
• Isolated Congenital Growth Hormone Deficiency
• Isolated Congenital Hypoglossia/aglossia
• Isolated Congenital Megalocornea
• Isolated Congenitally Uncorrected Transposition Of The Great Arteries
• Isolated Cryptophthalmia
• Isolated Delta-Storage Pool Disease
• Isolated Ectopia Lentis
• Isolated Exencephaly
• Isolated Focal Cortical Dysplasia
• Isolated Focal Cortical Dysplasia Type Ia
• 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 Glycerol Kinase Deficiency
• Isolated Growth Hormone Deficiency Type IB
• Isolated Growth Hormone Deficiency, Type 4
• Isolated Hemihyperplasia
• Isolated Hereditary Congenital Facial Paralysis
• Isolated Hyperchlorhidrosis
• Isolated Lutropin Deficiency
• Isolated Megalencephaly
• Isolated Micronodular Adrenocortical Disease
• Isolated Neonatal Sclerosing Cholangitis
• Isolated Osteopoikilosis
• Isolated Pierre-Robin Syndrome
• Isolated Primary Pigmented Nodular Adrenocortical Disease
• Isolated Right Ventricular Hypoplasia
• Isolated Sedoheptulokinase Deficiency
• Isolated Spina Bifida
• Isolated Thyroid-Stimulating Hormone Deficiency
• Isolated Thyrotropin-Releasing Hormone Deficiency
• Isotretinoin-Like Syndrome
• Isovaleryl-CoA Dehydrogenase Deficiency
• ITM2B Amyloidosis

J35▾

• Jackson-Weiss Syndrome
• Jalili Syndrome
• Jaw-Winking Syndrome
• Jawad Syndrome
• Jervell And Lange-Nielsen Syndrome
• Jeune Thoracic Dystrophy
• Johanson-Blizzard Syndrome
• Johnson Neuroectodermal Syndrome
• Joint Laxity, Short Stature, And Myopia
• Joubert Syndrome
• Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
• Joubert Syndrome With Ocular Defect
• Joubert Syndrome With Oculorenal Defect
• Joubert Syndrome With Renal Defect
• Juberg-Hayward Syndrome
• Junctional Epidermolysis Bullosa Gravis Of Herlitz
• Junctional Epidermolysis Bullosa Inversa
• Junctional Epidermolysis Bullosa With Pyloric Atresia
• Juvenile Absence Epilepsy
• Juvenile Amyotrophic Lateral Sclerosis
• Juvenile Cataract-Microcornea-Renal Glucosuria Syndrome
• Juvenile Hemochromatosis
• Juvenile Huntington Disease
• Juvenile Hyaline Fibromatosis
• Juvenile Myelomonocytic Leukemia
• Juvenile Myoclonic Epilepsy
• Juvenile Nephropathic Cystinosis
• Juvenile Or Adult CACH Syndrome
• Juvenile Polyposis Of Infancy
• Juvenile Polyposis Syndrome
• Juvenile Primary Lateral Sclerosis
• Juvenile Retinoschisis
• Juvenile Sialidosis Type 2
• Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
• Juvenile-Onset Steinert Myotonic Dystrophy

K52▾

• Kabuki Syndrome
• Kandori Fleck Retina
• Kaposi Sarcoma
• Kaposiform Hemangioendothelioma
• Kapur-Toriello Syndrome
• Karsch-Neugebauer Syndrome
• Karyomegalic Interstitial Nephritis
• Kasabach-Merritt Syndrome
• Kaya-Barakat-Masson Syndrome
• KBG Syndrome
• KDM3B-Related Intellectual Disability-Facial Dysmorphism-Short Stature Syndrome
• Kearns-Sayre Syndrome
• Keipert Syndrome
• Kennedy Disease
• Kenny-Caffey Syndrome
• Keppen-Lubinsky Syndrome
• Keratitis Fugax Hereditaria
• Keratitis Ichthyosis And Deafness Syndrome
• Keratoderma With Scleroatrophy Of The Extremities
• Keratolytic Winter Erythema
• Keratosis Follicularis
• Keratosis Follicularis Spinulosa Decalvans
• Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome
• Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
• Keratosis Palmaris Et Plantaris-Clinodactyly Syndrome
• Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency
• Keutel Syndrome
• Kidney Wilms Tumor
• Kilquist Syndrome
• Kindler Syndrome
• King Denborough Syndrome
• Kleefstra Syndrome
• Kleefstra Syndrome Due To 9q34 Microdeletion
• Kleefstra Syndrome Due To A Point Mutation
• Kleine-Levin Syndrome
• KLHL7-Related Bohring-Opitz-Like Syndrome
• KLHL9-Related Early-Onset Distal Myopathy
• Klippel-Feil Anomaly-Myopathy-Facial Dysmorphism Syndrome
• Klippel-Feil Syndrome
• Kniest Dysplasia
• Knobloch Syndrome 1
• Knuckle Pads, Deafness AND Leukonychia Syndrome
• Koolen-De Vries Syndrome
• Koolen-De Vries Syndrome Due To 17q21.31 Microdeletion Syndrome
• Koolen-De Vries Syndrome Due To A Point Mutation
• Kostmann Syndrome
• Kufor-Rakeb Syndrome
• Kugelberg-Welander Disease
• Kuru
• Kyphomelic Dysplasia
• Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
• Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome

L155▾

• L-2-Hydroxyglutaric Aciduria
• L-Ferritin Deficiency
• L1 Syndrome
• Lafora Disease
• LAMA5-Related Multisystemic Syndrome
• Lamb-Shaffer Syndrome
• LAMB2-Related Infantile-Onset Nephrotic Syndrome
• Lambert Syndrome
• Lamellar Ichthyosis
• Landau-Kleffner Syndrome
• Langer Mesomelic Dysplasia Syndrome
• Langer-Giedion Syndrome
• Langerhans Cell Histiocytosis
• Large Congenital Melanocytic Nevus
• Laron-Type Isolated Somatotropin Defect
• Larsen Syndrome
• Larsen-Like Osseous Dysplasia-Short Stature Syndrome
• Larsen-Like Syndrome, B3GAT3 Type
• Laryngeal Abductor Paralysis With Intellectual Disability Syndrome
• Laryngeal Atresia
• Laryngo-Onycho-Cutaneous Syndrome
• Laryngotracheoesophageal Cleft
• Laryngotracheoesophageal Cleft Type 3
• Late Infantile CACH Syndrome
• Late-Infantile/juvenile Krabbe Disease
• Late-Onset Junctional Epidermolysis Bullosa
• Late-Onset Localized Junctional Epidermolysis Bullosa-Intellectual Disability Syndrome
• Late-Onset Nephronophthisis
• Late-Onset Retinal Degeneration
• Late-Onset Steinert Myotonic Dystrophy
• Lateral Meningocele Syndrome
• Lathosterolosis
• Lattice Corneal Dystrophy Type I
• Laurence-Moon Syndrome
• Laurin-Sandrow Syndrome
• Lazy Leukocyte Syndrome
• LCAT Deficiency
• Leber Congenital Amaurosis
• Leber Optic Atrophy
• Leber Plus Disease
• Left Ventricular Noncompaction
• Legg-Calve-Perthes Disease
• Legius Syndrome
• Leigh Syndrome
• Leishmaniasis
• Lelis Syndrome
• Lennox-Gastaut Syndrome
• Lens Coloboma
• Lenz Microphthalmia Syndrome
• Lenz-Majewski Hyperostosis Syndrome
• Leprechaunism Syndrome
• Leprosy
• Leri Pleonosteosis
• Leri-Weill Dyschondrosteosis
• Lesch-Nyhan Syndrome
• Lethal Acantholytic Epidermolysis Bullosa
• Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency
• Lethal Arthrogryposis-Anterior Horn Cell Disease Syndrome
• Lethal Congenital Contracture Syndrome 1
• Lethal Congenital Contracture Syndrome 2
• Lethal Congenital Glycogen Storage Disease Of Heart
• Lethal Faciocardiomelic Dysplasia
• Lethal Fetal Cerebrorenogenitourinary Agenesis/hypoplasia Syndrome
• Lethal Hemolytic Anemia-Genital Anomalies Syndrome
• Lethal Hydranencephaly-Diaphragmatic Hernia Syndrome
• Lethal Infantile Mitochondrial Myopathy
• Lethal Kniest-Like Dysplasia
• Lethal Kniest-Like Syndrome
• Lethal Larsen-Like Syndrome
• Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome
• Lethal Multiple Pterygium Syndrome
• Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome
• Lethal Omphalocele-Cleft Palate Syndrome
• Lethal Osteosclerotic Bone Dysplasia
• Lethal Polymalformative Syndrome, Boissel Type
• Lethal Pontocerebellar Hypoplasia-Hypotonia-Respiratory Insufficiency Syndrome Due To A Point Mutation
• Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
• Lethal Tight Skin Contracture Syndrome
• Leukocyte Adhesion Deficiency
• Leukocyte Adhesion Deficiency 1
• Leukocyte Adhesion Deficiency Type II
• Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism
• Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
• Leukoencephalopathy With Calcifications And Cysts
• Leukoencephalopathy With Mild Cerebellar Ataxia And White Matter Edema
• Leukoencephalopathy With Vanishing White Matter 1
• Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate
• Leukoencephalopathy, Ataxia, Hypodontia, Hypomyelination Syndrome
• Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1
• Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
• Leukonychia Totalis
• Levy-Hollister Syndrome
• Leydig Cell Hypoplasia
• Leydig Cell Hypoplasia Due To Complete LH Resistance
• Leydig Cell Hypoplasia Due To Partial LH Resistance
• Lhermitte-Duclos Disease
• Li-Fraumeni Syndrome
• Liang-Wang Syndrome
• Liberfarb Syndrome
• Lichtenstein Syndrome
• Lichtenstein-Knorr Syndrome
• Liddle Syndrome
• Limb-Girdle Muscular Dystrophy Due To POMK Deficiency
• Limb-Mammary Syndrome
• Limited Cutaneous Systemic Sclerosis
• Linear And Whorled Nevoid Hypermelanosis
• Linear Hypopigmentation And Craniofacial Asymmetry With Acral, Ocular And Brain Anomalies
• Linear Nevus Sebaceous Syndrome
• Linear Skin Defects With Multiple Congenital Anomalies
• Lipase Deficiency, Combined
• LIPE-Related Familial Partial Lipodystrophy
• Lipid Proteinosis
• Lipodystrophy Due To Peptidic Growth Factors Deficiency
• Lipodystrophy-Intellectual Disability-Deafness Syndrome
• Lipoic Acid Synthetase Deficiency
• Lipomatosis Dolorosa
• Lipoprotein Glomerulopathy
• Liposarcoma
• Lipoyl Transferase 1 Deficiency
• Lisch Epithelial Corneal Dystrophy
• Lissencephaly 9 With Complex Brainstem Malformation
• Lissencephaly Due To LIS1 Mutation
• Lissencephaly Due To TUBA1A Mutation
• Lissencephaly Type 1 Due To Doublecortin Gene Mutation
• Lissencephaly Type 3-Familial Fetal Akinesia Sequence Syndrome
• Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
• LMNA-Related Cardiocutaneous Progeria Syndrome
• Lobar Holoprosencephaly
• Localized Dystrophic Epidermolysis Bullosa
• Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type
• Loeys-Dietz Syndrome
• Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
• Loose Anagen Hair Syndrome
• Loricrin Keratoderma
• Low Phospholipid Associated Cholelithiasis
• Lowe Syndrome
• Lower Motor Neuron Syndrome With Late-Adult Onset
• Lowry-MacLean Syndrome
• Lowry-Wood Syndrome
• LRP5-Related Primary Osteoporosis
• Lucey-Driscoll Syndrome
• Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
• Lung Fibrosis-Immunodeficiency-46,XX Gonadal Dysgenesis Syndrome
• Lung Lymphangioleiomyomatosis
• Luscan-Lumish Syndrome
• Lymphatic Malformation 6
• Lymphedema Praecox
• Lymphedema-Atrial Septal Defects-Facial Changes Syndrome
• Lymphedema-Posterior Choanal Atresia Syndrome
• Lymphoid Interstitial Pneumonia
• Lymphomatoid Papulosis
• Lymphoproliferative Syndrome 1
• Lymphoproliferative Syndrome 2
• Lysinuric Protein Intolerance
• Lysosomal Acid Lipase Deficiency

M406▾

• Machado-Joseph Disease Type 1
• Machado-Joseph Disease Type 2
• Machado-Joseph Disease Type 3
• Macrocephaly-Autism Syndrome
• Macrocephaly-Developmental Delay Syndrome
• Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
• Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
• Macrodactyly Of Fingers
• Macrodactyly Of Fingers, Unilateral
• Macrodactyly Of Toe
• Macrodactyly Of Toes, Unilateral
• Macrosomia-Microphthalmia-Cleft Palate Syndrome
• Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
• Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
• Macular Coloboma-Cleft Palate-Hallux Valgus Syndrome
• Macular Corneal Dystrophy
• Maffucci Syndrome
• Majeed Syndrome
• Malan Overgrowth Syndrome
• Malaria
• Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
• Male Infertility Due To Acephalic Spermatozoa
• Male Infertility Due To Globozoospermia
• Male Infertility With Teratozoospermia Due To Single Gene Mutation
• Maligant Granulosa Cell Tumor Of Ovary
• Malignant Atrophic Papulosis
• Malignant Epithelial Tumor Of Salivary Glands
• Malignant Germ Cell Tumor Of Ovary
• Malignant Hyperthermia Of Anesthesia
• Malignant Migrating Partial Seizures Of Infancy
• Malignant Perineurioma
• Malignant Sertoli-Leydig Cell Tumor Of Ovary
• Malignant Triton Tumor
• Mammary-Digital-Nail Syndrome
• MAN1B1-Congenital Disorder Of Glycosylation
• Mandibular Hypoplasia-Deafness-Progeroid Syndrome
• Mandibular Prognathia
• Mandibuloacral Dysplasia
• Mandibuloacral Dysplasia Progeroid Syndrome
• Mandibuloacral Dysplasia With Type A Lipodystrophy
• Mandibuloacral Dysplasia With Type B Lipodystrophy
• Mandibulofacial Dysostosis With Alopecia
• Mandibulofacial Dysostosis-Macroblepharon-Macrostomia Syndrome
• Mandibulofacial Dysostosis-Microcephaly Syndrome
• Mantle Cell Lymphoma
• Maple Syrup Urine Disease
• Marbach-Rustad Progeroid Syndrome
• Marbach-Schaaf Neurodevelopmental Syndrome
• Marden-Walker Syndrome
• Marfan Syndrome
• Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
• Marie Unna Syndrome
• Marinesco-Sjögren Syndrome
• Marshall Syndrome
• Marshall-Smith Syndrome
• Martsolf Syndrome 1
• MASA Syndrome
• MASS Syndrome
• Mast Syndrome
• Mastocytosis
• Maternal 14q32.2 Hypermethylation Syndrome
• Maternal 14q32.2 Microdeletion Syndrome
• Maternal Phenylketonuria
• Maternal Riboflavin Deficiency
• Maternal Uniparental Disomy Of Chromosome 14
• Maternal Uniparental Disomy Of Chromosome 20
• Maternally-Inherited Cardiomyopathy And Hearing Loss
• Maternally-Inherited Leigh Syndrome
• Maternally-Inherited Progressive External Ophthalmoplegia
• Maternally-Inherited Spastic Paraplegia
• Matthew-Wood Syndrome
• Maturity-Onset Diabetes Of The Young
• Mayer Rokitansky Kuster Hauser Syndrome Type 1
• Mayer-Rokitansky-Kuster-Hauser Syndrome
• Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
• Mazabraud Syndrome
• McCune-Albright Syndrome
• McDonough Syndrome
• McKusick-Kaufman Syndrome
• McLeod Neuroacanthocytosis Syndrome
• Meacham Syndrome
• Meckel-Gruber Syndrome
• Median Nodule Of The Upper Lip
• Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
• MEDNIK Syndrome
• Medullary Sponge Kidney
• Medulloblastoma
• Medulloblastoma With Extensive Nodularity
• Meesmann Corneal Dystrophy
• Megaconial Type Congenital Muscular Dystrophy
• Megakaryoblastic Acute Myeloid Leukemia With t(1;22)(p13;q13)
• Megalencephalic Leukoencephalopathy With Subcortical Cysts
• Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
• Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
• Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
• Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness
• Megaloblastic Anemia-Immunodeficiency Due To Folate Transporter 1 Deficiency
• Megalocornea-Intellectual Disability Syndrome
• MEGF10-Related Myopathy
• MEHMO Syndrome
• Meier-Gorlin Syndrome
• Melanoma And Neural System Tumor Syndrome
• Melanoma Of Soft Tissue
• MELAS Syndrome
• Melioidosis
• Melkersson-Rosenthal Syndrome
• Melnick-Fraser Syndrome
• Melnick-Needles Syndrome
• Melorheostosis
• Melorheostosis With Osteopoikilosis
• MEND Syndrome
• Mendelian Susceptibility To Mycobacterial Diseases Due To Complete IL12B Deficiency
• Mendelian Susceptibility To Mycobacterial Diseases Due To Complete IL12RB1 Deficiency
• Mendelian Susceptibility To Mycobacterial Diseases Due To Complete ISG15 Deficiency
• Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IRF8 Deficiency
• Mendelian Susceptibility To Mycobacterial Diseases Due To Partial STAT1 Deficiency
• Meningioma
• Menke-Hennekam Syndrome
• Menkes Kinky-Hair Syndrome
• Menstrual Cycle-Dependent Periodic Fever
• Merosin Deficient Congenital Muscular Dystrophy
• MERRF Syndrome
• Mesangiocapillary Glomerulonephritis, Type II
• Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
• Mesomelia-Synostoses Syndrome
• Mesomelic Dwarfism, Nievergelt Type
• Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
• Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
• Mesomelic Dysplasia, Kantaputra Type
• Mesomelic Dysplasia, Savarirayan Type
• Mesomelic Dysplasia-Digital Anomalies-Intellectual Disability Syndrome
• Mesothelioma, Malignant
• Metabolic Myopathy Due To Lactate Transporter Defect
• Metachondromatosis
• Metachromatic Leukodystrophy
• Metachromatic Leukodystrophy, Adult Type
• Metachromatic Leukodystrophy, Juvenile Type
• Metachromatic Leukodystrophy, Late Infantile Form
• Metageria
• Metaphyseal Acroscyphodysplasia
• Metaphyseal Anadysplasia
• Metaphyseal Chondrodysplasia, Jansen Type
• Metaphyseal Chondrodysplasia, Kaitila Type
• Metaphyseal Chondrodysplasia, McKusick Type
• Metaphyseal Chondrodysplasia, Schmid Type
• Metaphyseal Chondrodysplasia, Spahr Type
• Metaphyseal Chondrodysplasia-Retinitis Pigmentosa Syndrome
• Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
• Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
• Metaphyseal Dysplasia Without Hypotrichosis
• Metaphyseal Dysplasia, Braun-Tinschert Type
• Metaphyseal Dysplasia-Maxillary Hypoplasia-Brachydacty Syndrome
• Metaphyseal Undermodeling, Spondylar Dysplasia, And Overgrowth
• Metatropic Dysplasia
• Methylcobalamin Deficiency Type cblDv1
• Methylcobalamin Deficiency Type CblE
• Methylcobalamin Deficiency Type CblG
• Methylcrotonyl-CoA Carboxylase Deficiency
• Methylmalonate Semialdehyde Dehydrogenase Deficiency
• Methylmalonic Acidemia Due To Methylmalonyl-CoA Epimerase Deficiency
• Methylmalonic Acidemia Due To Transcobalamin Receptor Defect
• Methylmalonic Acidemia With Homocystinuria, Type CblJ
• Methylmalonic Acidemia With Homocystinuria, Type CblX
• Methylmalonic Aciduria And Homocystinuria
• Methylmalonic Aciduria And Homocystinuria Type CblD
• Methylmalonic Aciduria And Homocystinuria Type CblF
• Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency
• Mevalonic Aciduria
• MGAT2-Congenital Disorder Of Glycosylation
• MGP-Related Spondyloepiphyseal Dysplasia
• MHC Class II Deficiency
• Michelin-Tire Baby
• Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
• Microbrachycephaly-Ptosis-Cleft Lip Syndrome
• Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
• Microcephalic Osteodysplastic Primordial Dwarfism Type II
• Microcephalic Osteodysplastic Primordial Dwarfism Types I And III
• Microcephalic Primordial Dwarfism Due To RTTN Deficiency
• Microcephalic Primordial Dwarfism Due To ZNF335 Deficiency
• Microcephalic Primordial Dwarfism, Alazami Type
• Microcephalic Primordial Dwarfism, Toriello Type
• Microcephalus Cardiomyopathy Syndrome
• Microcephaly And Chorioretinopathy 1
• Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability
• Microcephaly, Epilepsy, And Diabetes Syndrome 1
• Microcephaly, Normal Intelligence And Immunodeficiency
• Microcephaly, Short Stature, And Limb Abnormalities
• Microcephaly-Albinism-Digital Anomalies Syndrome
• Microcephaly-Capillary Malformation Syndrome
• Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
• Microcephaly-Cerebellar Hypoplasia-Cardiac Conduction Defect Syndrome
• Microcephaly-Cervical Spine Fusion Anomalies Syndrome
• Microcephaly-Complex Motor And Sensory Axonal Neuropathy Syndrome
• Microcephaly-Congenital Cataract-Psoriasiform Dermatitis Syndrome
• Microcephaly-Deafness-Intellectual Disability Syndrome
• Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
• Microcephaly-Facio-Cardio-Skeletal Syndrome, Hadziselimovic Type
• Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
• Microcephaly-Intellectual Disability-Phalangeal And Neurological Anomalies Syndrome
• Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
• Microcephaly-Micromelia Syndrome
• Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
• Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome
• Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
• Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
• Microcornea-Myopic Chorioretinal Atrophy
• Microcytic Anemia With Liver Iron Overload
• Microform Holoprosencephaly
• Microgastria-Limb Reduction Defect Syndrome
• Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
• Microlissencephaly
• Microphthalmia With Brain And Digit Anomalies
• Microphthalmia With Limb Anomalies
• Microphthalmia, Isolated, With Coloboma
• Microphthalmia-Brain Atrophy Syndrome
• Microspherophakia-Metaphyseal Dysplasia Syndrome
• Microtia-Anotia
• Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
• Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
• Mietens Syndrome
• Mild Canavan Disease
• Mild Hemophilia A
• Mild Hemophilia B
• Mild Hyperphenylalaninemia
• Mild Phosphoribosylpyrophosphate Synthetase Superactivity
• Miller Dieker Syndrome
• Miller Syndrome
• Minimal Pigment Oculocutaneous Albinism Type 1
• MIR140-Related Spondyloepiphyseal Dysplasia
• MIRAGE Syndrome
• Mirror Image Polydactyly
• MIT Family Translocation Renal Cell Carcinoma
• Mitchell Syndrome
• Mitochondrial Complex I Deficiency
• Mitochondrial Complex II Deficiency, Nuclear Type 1
• Mitochondrial Complex III Deficiency
• Mitochondrial Complex IV Deficiency, Nuclear-Type
• Mitochondrial DNA Deletion Syndrome With Progressive Myopathy
• Mitochondrial DNA Depletion Syndrome 13
• Mitochondrial DNA Depletion Syndrome 3 (hepatocerebral Type)
• Mitochondrial DNA Depletion Syndrome 6 (hepatocerebral Type)
• Mitochondrial DNA Depletion Syndrome 8a
• Mitochondrial DNA Depletion Syndrome 9
• Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form
• Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
• Mitochondrial DNA Depletion Syndrome, Hepatocerebrorenal Form
• Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To MTO1 Deficiency
• Mitochondrial Myopathy With Diabetes
• Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
• Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
• Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
• Mitochondrial Neurogastrointestinal Encephalomyopathy
• Mitochondrial Non-Syndromic Sensorineural Hearing Loss
• Mitochondrial Proton-Transporting ATP Synthase Complex Deficiency
• Mitochondrial Pyruvate Carrier Deficiency
• Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
• Mitochondrial Trifunctional Protein Deficiency
• Mixed Phenotype Acute Leukemia
• Mixed Phenotype Acute Leukemia With t(9;22)(q34.1;q11.2)
• Mixed Phenotype Acute Leukemia With t(v;11q23.3)
• Miyoshi Muscular Dystrophy 3
• Miyoshi Myopathy
• MME-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2
• MMEP Syndrome
• Moderate Multiminicore Disease With Hand Involvement
• Moderately Severe Hemophilia A
• Moderately Severe Hemophilia B
• MOGS-Congenital Disorder Of Glycosylation
• Mohr Syndrome
• MOMO Syndrome
• Monilethrix
• Monocytopenia With Susceptibility To Infections
• Monomelic Amyotrophy
• Mononen-Karnes-Senac Syndrome
• Monosomy 13q34
• Monosomy 9q22.3
• Monostotic Fibrous Dysplasia
• Morimoto-Ryu-Malicdan Neuromuscular Syndrome
• MORM Syndrome
• Morning Glory Syndrome
• Morquio Syndrome
• Mosaic Neurofibromatosis Type 1
• Mosaic NF2-Related Schwannomatosis
• Mosaic Variegated Aneuploidy Syndrome
• Motor Developmental Delay Due To 14q32.2 Paternally Expressed Gene Defect
• Mowat-Wilson Syndrome
• Mowat-Wilson Syndrome Due To A ZEB2 Point Mutation
• Mowat-Wilson Syndrome Due To Monosomy 2q22
• Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
• Moyamoya Disease
• Moyamoya Disease With Early-Onset Achalasia
• Moynahan Syndrome
• MPDU1-Congenital Disorder Of Glycosylation
• MPI-Congenital Disorder Of Glycosylation
• MRCS Syndrome
• Mucolipidosis Type II
• Mucolipidosis Type IV
• Mucopolysaccharidosis Type 1
• Mucopolysaccharidosis Type 2, Attenuated Form
• Mucopolysaccharidosis Type 2, Severe Form
• Mucopolysaccharidosis Type 6
• Mucopolysaccharidosis Type 6, Rapidly Progressing
• Mucopolysaccharidosis Type 6, Slowly Progressing
• Mucopolysaccharidosis Type 7
• Mucopolysaccharidosis, MPS-I-H/S
• Mucopolysaccharidosis, MPS-I-S
• Mucopolysaccharidosis, MPS-II
• Mucopolysaccharidosis, MPS-III-A
• Mucopolysaccharidosis, MPS-III-B
• Mucopolysaccharidosis, MPS-III-C
• Mucopolysaccharidosis, MPS-III-D
• Mucopolysaccharidosis, MPS-IV-A
• Mucopolysaccharidosis, MPS-IV-B
• Mucopolysaccharidosis, Type 10
• Mucopolysaccharidosis-Plus Syndrome
• Mucosa-Associated Lymphoma
• Muenke Syndrome
• Muir-Torré Syndrome
• Mulibrey Nanism Syndrome
• Mullerian Aplasia And Hyperandrogenism
• Mullerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
• Mullerian Duct Anomalies-Limb Anomalies Syndrome
• Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
• Multicentric Osteolysis Nodulosis Arthropathy Spectrum
• Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus
• Multiminicore Myopathy
• Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
• Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome
• Multiple Acyl-CoA Dehydrogenase Deficiency
• Multiple Acyl-CoA Dehydrogenase Deficiency, Mild Type
• Multiple Acyl-CoA Dehydrogenase Deficiency, Severe Neonatal Type
• Multiple Congenital Anomalies Due To 14q32.2 Maternally Expressed Gene Defect
• Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
• Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
• Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
• Multiple Congenital Exostosis
• Multiple Cutaneous And Mucosal Venous Malformations
• Multiple Endocrine Neoplasia Type 2A
• Multiple Endocrine Neoplasia Type 2B
• Multiple Endocrine Neoplasia Type 4
• Multiple Endocrine Neoplasia, Type 1
• Multiple Endocrine Neoplasia, Type 2
• Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
• Multiple Epiphyseal Dysplasia Type 1
• Multiple Epiphyseal Dysplasia Type 4
• Multiple Epiphyseal Dysplasia Type 5
• Multiple Epiphyseal Dysplasia, Al-Gazali Type
• Multiple Epiphyseal Dysplasia, Beighton Type
• Multiple Epiphyseal Dysplasia, Lowry Type
• Multiple Mitochondrial Dysfunctions Syndrome 2
• Multiple Mitochondrial Dysfunctions Syndrome 5
• Multiple Mitochondrial Dysfunctions Syndrome 6
• Multiple Myeloma
• Multiple Pterygium-Malignant Hyperthermia Syndrome
• Multiple Self-Healing Squamous Epithelioma
• Multiple Sulfatase Deficiency
• Multiple Symmetric Lipomatosis
• Multiple Synostosis Syndrome
• Multiple System Atrophy
• Multiple System Atrophy, Cerebellar Type
• Multiple System Atrophy, Parkinsonian Type
• Multisystem Langerhans Cell Histiocytosis
• Multisystemic Smooth Muscle Dysfunction Syndrome
• Muscle Eye Brain Disease
• Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
• Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
• Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
• Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
• Mutilating Keratoderma
• Myasthenia Gravis
• MYBPC1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome
• Mycosis Fungoides
• Myelodysplastic Syndrome
• Myelodysplastic Syndrome Associated With Isolated del(5q)
• Myelodysplastic Syndrome With Excess Blasts-1
• Myelodysplastic Syndrome With Excess Blasts-2
• Myelodysplastic Syndrome With Ring Sideroblasts
• Myeloid Neoplasm Associated With FGFR1 Rearrangement
• Myeloperoxidase Deficiency
• Myeloproliferative Neoplasm, Unclassifiable
• MYH7-Related Skeletal Myopathy
• Myhre Syndrome
• MYO5B-Related Progressive Familial Intrahepatic Cholestasis
• Myoclonic Dystonia 15
• Myoclonic Epilepsy In Infancy
• Myoclonus, Familial
• Myoclonus-Cerebellar Ataxia-Deafness Syndrome
• Myoclonus-Dystonia Syndrome
• Myofibrillar Myopathy 2
• Myofibrillar Myopathy 4
• Myofibrillar Myopathy 5
• Myopathic Intestinal Pseudoobstruction
• Myopathy Due To Calsequestrin And SERCA1 Protein Overload
• Myopathy With Tubular Aggregates
• Myopathy, Distal, 5
• Myopathy, Lactic Acidosis, And Sideroblastic Anemia
• Myopathy, Myofibrillar, 9, With Early Respiratory Failure
• Myopathy, Myosin Storage, Autosomal Recessive
• Myosclerosis
• Myosin Storage Myopathy
• Myotonia Fluctuans
• Myotonia Permanens
• Myotonic Dystrophy Type 2
• MYT1L-Related Developmental Delay-Intellectual Disability-Obesity Syndrome
• Myxofibrosarcoma
• Myxoid/round Cell Liposarcoma

N132▾

• N Syndrome
• NAD(P)HX Dehydratase Deficiency
• Naegeli-Franceschetti-Jadassohn Syndrome
• Nager Syndrome
• Nail And Teeth Abnormalities-Marginal Palmoplantar Keratoderma-Oral Hyperpigmentation Syndrome
• Nail-Patella Syndrome
• Nail-Patella-Like Renal Disease
• Namaqualand Hip Dysplasia
• Nance-Horan Syndrome
• Nanophthalmia
• Narcolepsy Without Cataplexy
• NARP Syndrome
• Nasal Dermoid Cyst
• Nasopalpebral Lipoma-Coloboma Syndrome
• Nasopharyngeal Carcinoma
• Nathalie Syndrome
• Naxos Disease
• NDE1-Related Microhydranencephaly
• Nebulin-Related Early-Onset Distal Myopathy
• NEK9-Related Lethal Skeletal Dysplasia
• Nemaline Myopathy 5
• Neonatal Alloimmune Neutropenia
• Neonatal Diabetes Mellitus With Congenital Hypothyroidism
• Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome
• Neonatal Glycine Encephalopathy
• Neonatal Hemochromatosis
• Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
• Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
• Neonatal Marfan Syndrome
• Neonatal Pseudo-Hydrocephalic Progeroid Syndrome
• Neonatal Severe Primary Hyperparathyroidism
• Neonatal-Onset Encephalopathy With Rigidity And Seizures
• Neonatal-Onset Severe Multisystemic Autoinflammatory Disease With Increased IL18
• Nephrogenic Diabetes Insipidus
• Nephrogenic Diabetes Insipidus-Intracranial Calcification Syndrome
• Nephrogenic Syndrome Of Inappropriate Antidiuresis
• Nephronophthisis
• Nephropathy - Deafness - Hyperparathyroidism Syndrome
• Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
• Nestor-Guillermo Progeria Syndrome
• Netherton Syndrome
• Neu-Laxova Syndrome
• Neu-Laxova Syndrome 1
• Neu-Laxova Syndrome 2
• Neu-Laxova Syndrome Due To 3-Phosphoserine Phosphatase Deficiency
• Neuralgic Amyotrophy
• Neuroblastoma
• Neurocutaneous Melanocytosis
• Neurodegeneration With Brain Iron Accumulation 4
• Neurodegeneration With Brain Iron Accumulation 5
• Neurodegeneration With Brain Iron Accumulation 6
• Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
• Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
• Neurodevelopmental Disorder With Alopecia And Brain Abnormalities
• Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
• Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
• Neurodevelopmental Disorder With Hypotonia, Brain Anomalies, Distinctive Facies, And Absent Language
• Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
• Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
• Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
• Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
• Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
• Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome
• Neuroectodermal Melanolysosomal Disease
• Neurofaciodigitorenal Syndrome
• Neuroferritinopathy
• Neurofibromatosis Type 1 Due To NF1 Mutation Or Intragenic Deletion
• Neurofibromatosis, Type 1
• Neurofibromatosis-Noonan Syndrome
• Neurogenic Scapuloperoneal Syndrome, Kaeser Type
• Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
• Neuronal Ceroid Lipofuscinosis 10
• Neuronal Ceroid Lipofuscinosis 11
• Neuronal Ceroid Lipofuscinosis 13
• Neuronal Ceroid Lipofuscinosis 2
• Neuronal Ceroid Lipofuscinosis 5
• Neuronal Ceroid Lipofuscinosis 7
• Neuronal Ceroid Lipofuscinosis 8
• Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
• Neuronal Intranuclear Inclusion Disease
• Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
• Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
• Neuronopathy, Distal Hereditary Motor, Autosomal Recessive
• Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
• Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
• Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
• Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
• Neuronopathy, Distal Hereditary Motor, Type 5
• Neuroocular Syndrome 1
• Neurooculocardiogenitourinary Syndrome
• Neuropathy With Hearing Impairment
• Neutral 1 Amino Acid Transport Defect
• Neutral Lipid Storage Myopathy
• Nevus Comedonicus Syndrome
• Nicolaides-Baraitser Syndrome
• Niemann-Pick Disease Type C, Adult Neurologic Onset
• Niemann-Pick Disease Type C, Juvenile Neurologic Onset
• Niemann-Pick Disease Type C, Late Infantile Neurologic Onset
• Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset
• Niemann-Pick Disease Type C, Severe Perinatal Form
• Niemann-Pick Disease, Type A
• Niemann-Pick Disease, Type B
• Niemann-Pick Disease, Type C
• Nijmegen Breakage Syndrome-Like Disorder
• NIK Deficiency
• Nodular Fasciitis
• Nodular Neuronal Heterotopia
• Nodular Sclerosis Classical Hodgkin Lymphoma
• Nodular Urticaria Pigmentosa
• Non-Acquired Combined Pituitary Hormone Deficiency With Spine Abnormalities
• Non-Classic Congenital Lipoid Adrenal Hyperplasia Due To STAR Deficency
• Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
• Non-Hereditary Retinoblastoma
• Non-Immune Hydrops Fetalis
• Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
• Non-Syndromic Metopic Craniosynostosis
• Non-Syndromic Non-Specific Multisutural Craniosynostosis
• Nonimmune Chronic Idiopathic Neutropenia Of Adults
• Nonsyndromic Congenital Nail Disorder 4
• Nonsyndromic Congenital Nail Disorder 7
• Noonan Syndrome
• Noonan Syndrome With Multiple Lentigines
• Noonan Syndrome-Like Disorder With Loose Anagen Hair
• Norman-Roberts Syndrome
• Normophosphatemic Familial Tumoral Calcinosis
• North Carolina Macular Dystrophy
• Norum Disease
• NPHP3-Related Meckel-Like Syndrome
• NRXN1-Related Severe Neurodevelopmental Disorder-Motor Stereotypies-Chronic Constipation-Sleep-Wake Cycle Disturbance
• Null Pituitary Adenoma
• Null Syndrome
• Nut Midline Carcinoma

O125▾

• Obesity Due To CEP19 Deficiency
• Obesity Due To Congenital Leptin Deficiency
• Obesity Due To Leptin Receptor Gene Deficiency
• Obesity Due To Melanocortin 4 Receptor Deficiency
• Obesity Due To Pro-Opiomelanocortin Deficiency
• Obesity Due To Prohormone Convertase I Deficiency
• Obesity Due To SIM1 Deficiency
• Occipital Encephalocele
• Occipital Pachygyria And Polymicrogyria
• Occult Macular Dystrophy
• Ochoa Syndrome
• Ocular Albinism With Late-Onset Sensorineural Deafness
• Ocular Albinism, Type I
• Ocular Cystinosis
• Oculo-Palato-Cerebral Syndrome
• Oculoauriculofrontonasal Syndrome
• Oculoauriculovertebral Spectrum With Radial Defects
• Oculocerebral Hypopigmentation Syndrome Of Preus
• Oculocerebrocutaneous Syndrome
• Oculocerebrodental Syndrome
• Oculocerebrofacial Syndrome, Kaufman Type
• Oculocutaneous Albinism Type 1
• Oculocutaneous Albinism Type 1A
• Oculocutaneous Albinism Type 1B
• Oculocutaneous Albinism Type 3
• Oculocutaneous Albinism Type 4
• Oculocutaneous Albinism Type 5
• Oculocutaneous Albinism Type 6
• Oculocutaneous Albinism Type 7
• Oculocutaneous Albinism Type 8
• Oculodental Syndrome, Rutherfurd Type
• Oculodentodigital Dysplasia
• Oculofaciocardiodental Syndrome
• Oculogastrointestinal Muscular Dystrophy
• Oculogastrointestinal-Neurodevelopmental Syndrome
• Oculomotor Apraxia - Cogan Type
• Oculoosteocutaneous Syndrome
• Oculootodental Syndrome
• Oculootoradial Syndrome
• Oculopharyngeal Muscular Dystrophy
• Oculopharyngodistal Myopathy
• Oculorenocerebellar Syndrome
• Oculotrichoanal Syndrome
• Oculotrichodysplasia
• Odonto-Onycho-Dermal Dysplasia
• Odonto-Tricho-Ungual-Digito-Palmar Syndrome
• Odontochondrodysplasia 1
• Odontohypophosphatasia
• Odontoleukodystrophy
• Odontomatosis-Aortae Esophagus Stenosis Syndrome
• Odontomicronychial Dysplasia
• Odontotrichomelic Syndrome
• Ogden Syndrome
• Oguchi Disease
• Okihiro Syndrome Due To 20q13 Microdeletion
• Okihiro Syndrome Due To A Point Mutation
• Okur-Chung Neurodevelopmental Syndrome
• Oligoarticular Juvenile Idiopathic Arthritis
• Oligoastrocytoma
• Oligodendroglioma
• Oliver Syndrome
• Olmsted Syndrome
• Omodysplasia
• Omphalocele Syndrome, Shprintzen-Goldberg Type
• Omphalocele-Diaphragmatic Hernia-Cardiovascular Anomalies-Radial Ray Defect Syndrome
• Onychotrichodysplasia And Neutropenia
• Ophthalmomandibulomelic Dysplasia
• Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
• Opitz G/BBB Syndrome
• Opsismodysplasia
• Optic Atrophy 2
• Optic Atrophy 3
• Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
• Ornithine Aminotransferase Deficiency
• Ornithine Carbamoyltransferase Deficiency
• Orofacial Clefting-Cardiac Anomalies-Facial Dysmorphism Syndrome
• Orofacial-Digital Syndrome III
• Orofacial-Digital Syndrome IV
• Orofaciodigital Syndrome 18
• Orofaciodigital Syndrome I
• Orofaciodigital Syndrome IX
• Orofaciodigital Syndrome Type 14
• Orofaciodigital Syndrome Type 6
• Orofaciodigital Syndrome V
• Orofaciodigital Syndrome VII
• Orofaciodigital Syndrome VIII
• Orofaciodigital Syndrome XI
• Oromandibular-Limb Hypogenesis Spectrum
• Orthostatic Hypotension 1
• Osebold-Remondini Syndrome
• OSLAM Syndrome
• Osteocraniostenosis
• Osteofibrous Dysplasia
• Osteogenesis Imperfecta
• Osteogenesis Imperfecta Type 5
• Osteogenesis Imperfecta Type I
• Osteogenesis Imperfecta Type III
• Osteogenesis Imperfecta With Normal Sclerae, Dominant Form
• Osteogenesis Imperfecta, Perinatal Lethal
• Osteoglophonic Dysplasia
• Osteopathia Striata With Cranial Sclerosis
• Osteopenia-Intellectual Disability-Sparse Hair Syndrome
• Osteopetrosis With Renal Tubular Acidosis
• Osteoporosis With Pseudoglioma
• Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
• Osteosclerosis - Stanescu Type
• Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
• Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
• Osteosclerotic Metaphyseal Dysplasia
• Oto-Palato-Digital Syndrome, Type I
• Oto-Palato-Digital Syndrome, Type II
• Otodental Syndrome
• Otofaciocervical Syndrome
• Otofaciocervical Syndrome 2
• Otoonychoperoneal Syndrome
• Otospondylomegaepiphyseal Dysplasia
• Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
• Ovarian Adenocarcinoma
• Ovarian Gonadoblastoma
• Ovarian Gynandroblastoma
• Ovarian Hyperstimulation Syndrome
• Ovarian Microcystic Stromal Tumor
• Ovarian Small Cell Carcinoma
• Overhydrated Hereditary Stomatocytosis
• Oxoglutaricaciduria

P406▾

• Pachygyria-Intellectual Disability-Epilepsy Syndrome
• Pachyonychia Congenita Syndrome
• Pacman Dysplasia
• PAGOD Syndrome
• Pai Syndrome
• PAICS Deficiency
• Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
• Pallister-Hall Syndrome
• Pallister-Killian Syndrome
• Pallister-W Syndrome
• Palmoplantar Keratoderma, Bothnian Type
• Palmoplantar Keratoderma, Nagashima Type
• Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
• Palmoplantar Keratoderma-Deafness Syndrome
• Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
• Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome
• Palmoplantar Keratoderma-Spastic Paralysis Syndrome
• Palmoplantar Keratoderma-XX Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
• Palmoplantar Pustulosis
• Pancreatic Agenesis
• Pancreatic Agenesis-Holoprosencephaly Syndrome
• Pancreatic Colipase Deficiency
• Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
• Pancreatic Insufficiency-Anemia-Hyperostosis Syndrome
• Pancreatic Insulin-Producing Neuroendocrine Tumor
• Pancreatic Triacylglycerol Lipase Deficiency
• Pancytopenia-Developmental Delay Syndrome
• Panhypopituitarism
• Papillary Carcinoma Of The Corpus Uteri
• Papillary Renal Cell Carcinoma
• Papillon-Lefèvre Syndrome
• Paramedian Nasal Cleft
• Paramyotonia Congenita Of Von Eulenburg
• Parana Hard-Skin Syndrome
• Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
• Parastremmatic Dwarfism
• Parathyroid Carcinoma
• PARC Syndrome
• Parietal Foramina
• Parietal Foramina With Cleidocranial Dysplasia
• Paris-Trousseau Thrombocytopenia
• Parkinson Disease, Late-Onset
• Parkinsonian-Pyramidal Syndrome
• Parkinsonism With Polyneuropathy
• Parkinsonism-Dystonia, Infantile
• Paroxysmal Extreme Pain Disorder
• Paroxysmal Familial Ventricular Fibrillation
• Paroxysmal Nocturnal Hemoglobinuria
• Paroxysmal Nonkinesigenic Dyskinesia
• Partial Androgen Insensitivity Syndrome
• Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia With Posterior Fossa Cysts Syndrome
• Partial Hydatidiform Mole
• Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
• Partington Syndrome
• Patella Aplasia/hypoplasia
• Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
• Paternal 14q32.2 Hypomethylation Syndrome
• Paternal 14q32.2 Microdeletion Syndrome
• Paternal Uniparental Disomy Of Chromosome 14
• Paternal Uniparental Disomy Of Chromosome 6
• Patterson-Stevenson-Fontaine Syndrome
• PCWH Syndrome
• Pearson Syndrome
• Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
• Pediatric Acute Respiratory Distress Syndrome
• Pediatric Hepatocellular Carcinoma
• Pediatric Multiple Sclerosis
• Pediatric Systemic Lupus Erythematosus
• Peeling Skin Syndrome 1
• Peeling Skin Syndrome Type A
• PEHO Syndrome
• PEHO-Like Syndrome
• Pelizaeus Merzbacher Like Disease
• Pelizaeus-Merzbacher Disease
• Pelizaeus-Merzbacher Disease In Female Carriers
• Pelizaeus-Merzbacher Disease, Classic Form
• Pelizaeus-Merzbacher Disease, Connatal Form
• Pelizaeus-Merzbacher Disease, Transitional Form
• Pellagra-Like Syndrome
• Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
• Pelvis-Shoulder Dysplasia
• Pelviscapular Dysplasia
• Pendred Syndrome
• Pentalogy Of Cantrell
• PERCHING Syndrome
• Perifolliculitis Capitis Abscedens Et Suffodiens
• Perinatal Lethal Hypophosphatasia
• Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome
• Periodic Paralysis With Later-Onset Distal Motor Neuropathy
• Periodontitis, Aggressive 1
• Peripheral Motor Neuropathy-Dysautonomia Syndrome
• Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
• Peripheral Primitive Neuroectodermal Tumor
• Periventricular Nodular Heterotopia
• Perlman Syndrome
• Permanent Neonatal Diabetes Mellitus
• Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
• Peroxisome Biogenesis Disorder
• Perrault Syndrome
• Perrault Syndrome 2
• Perry Syndrome
• Persistent Hyperplastic Primary Vitreous
• Persistent Mullerian Duct Syndrome
• Persistent Polyclonal B-Cell Lymphocytosis
• Persistent Truncus Arteriosus
• Peters Plus Syndrome
• Pettigrew Syndrome
• Peutz-Jeghers Syndrome
• Pfeiffer Syndrome
• Pfeiffer Syndrome Type 1
• Pfeiffer Syndrome Type 2
• Pfeiffer Syndrome Type 3
• Pfeiffer-Palm-Teller Syndrome
• PGM1-Congenital Disorder Of Glycosylation
• PHACE Syndrome
• Phakomatosis Cesioflammea
• Phakomatosis Cesiomarmorata
• Phakomatosis Pigmentokeratotica
• PHARC Syndrome
• PHAVER Syndrome
• Phelan-McDermid Syndrome
• Phelan-McDermid Syndrome Due To 22q13.3 Deletion
• Phelan-McDermid Syndrome Due To SHANK3 Mutation
• Phenylketonuria
• PHGDH Deficiency
• PHIP-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
• Phosphoenolpyruvate Carboxykinase (GTP) Deficiency
• Phosphoribosylpyrophosphate Synthetase Superactivity
• Photogenic Epilepsy
• Phytanic Acid Storage Disease
• Piebald Trait-Neurologic Defects Syndrome
• Piebaldism
• Pierpont Syndrome
• Pierre Robin Syndrome-Faciodigital Anomaly Syndrome
• Pierson Syndrome
• Pigmentary Pallidal Degeneration
• Pigmentary Retinal Dystrophy
• Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome
• Pigmented Paravenous Retinochoroidal Atrophy
• Pilarowski-Bjornsson Syndrome
• Pili Annulati
• Pili Torti
• Pili Torti-Deafness Syndrome
• Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
• Pilodental Dysplasia-Refractive Errors Syndrome
• Pilomatrixoma
• Pilomyxoid Astrocytoma
• Pitt-Hopkins Syndrome
• Pituitary Dependent Hypercortisolism
• Pituitary Stalk Interruption Syndrome
• Pityriasis Rubra Pilaris
• Plaque-Form Urticaria Pigmentosa
• Plasminogen Deficiency, Type I
• Platelet-Type Bleeding Disorder 11
• Platelet-Type Bleeding Disorder 18
• Platelet-Type Bleeding Disorder 20
• Platelet-Type Bleeding Disorder 8
• Platelet-Type Bleeding Disorder 9
• Platyspondylic Dysplasia, Torrance Type
• Pleomorphic Rhabdomyosarcoma
• Pleuropulmonary Blastoma
• PLG-Related Hereditary Angioedema With Normal C1inh
• PLIN1-Related Familial Partial Lipodystrophy
• PMM2-Congenital Disorder Of Glycosylation
• PMP22-RAI1 Contiguous Gene Duplication Syndrome
• Poikiloderma With Neutropenia
• Poirier-Bienvenu Neurodevelopmental Syndrome
• Poland Anomaly
• POLR-Related Leukodystrophy
• Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephaly
• Polydactyly Of A Triphalangeal Thumb
• Polydactyly Of An Index Finger
• Polydactyly-Myopia Syndrome
• Polyendocrine-Polyneuropathy Syndrome
• Polyglandular Autoimmune Syndrome, Type 1
• Polyglandular Autoimmune Syndrome, Type 2
• Polyglucosan Body Myopathy Type 1
• Polyglucosan Body Myopathy Type 2
• Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
• Polymerase Proofreading-Related Adenomatous Polyposis
• Polymicrogyria With Optic Nerve Hypoplasia
• Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
• Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
• Polyneuropathy-Hand Defect Syndrome
• Polyostotic Fibrous Dysplasia Of Bone
• Polysyndactyly 4
• Polysyndactyly-Cardiac Malformation Syndrome
• POMGNT2-Related Limb-Girdle Muscular Dystrophy R24
• Pontine Tegmental Cap Dysplasia
• Pontocerebellar Hypoplasia Type 10
• Pontocerebellar Hypoplasia Type 2
• Pontocerebellar Hypoplasia Type 3
• Pontocerebellar Hypoplasia Type 4
• Pontocerebellar Hypoplasia Type 5
• Pontocerebellar Hypoplasia Type 6
• Pontocerebellar Hypoplasia Type 7
• Pontocerebellar Hypoplasia Type 8
• Pontocerebellar Hypoplasia Type 9
• Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
• Pontocerebellar Hypoplasia, IIA 17
• Pontocerebellar Hypoplasia, Type 11
• Pontocerebellar Hypoplasia, Type 12
• Pontocerebellar Hypoplasia, Type 13
• Pontocerebellar Hypoplasia, Type 14
• Pontocerebellar Hypoplasia, Type 16
• Porencephaly
• Porencephaly-Cerebellar Hypoplasia-Internal Malformations Syndrome
• Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome
• Porokeratosis Of Mantoux
• Porokeratosis Of Mibelli
• Porokeratotic Eccrine Ostial And Dermal Duct Nevus
• Porphyria Cutanea Tarda
• Postaxial Polydactyly Type A
• Postaxial Polydactyly Type B
• Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome
• Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
• Postaxial Tetramelic Oligodactyly
• Posterior Amorphous Corneal Dystrophy
• Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
• Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
• Posterior Hypospadias
• Posterior Polymorphous Corneal Dystrophy
• Posterior Subcapsular Cataract
• Postsynaptic Congenital Myasthenic Syndrome
• Postural Orthostatic Tachycardia Syndrome
• Potassium-Aggravated Myotonia
• Potocki-Shaffer Syndrome
• PPARG-Related Familial Partial Lipodystrophy
• Prader-Willi Syndrome
• Prader-Willi Syndrome Due To Imprinting Mutation
• Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
• Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 1
• Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 2
• Prader-Willi Syndrome Due To Translocation
• Precursor B-Cell Acute Lymphoblastic Leukemia
• Precursor T-Cell Acute Lymphoblastic Leukemia
• Predisposition To Invasive Fungal Disease Due To CARD9 Deficiency
• Preeclampsia
• Premature Ovarian Failure 1
• Prenatal Benign Hypophosphatasia
• Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures
• Presynaptic Congenital Myasthenic Syndrome
• Pretibial Dystrophic Epidermolysis Bullosa
• Prieto Syndrome
• Primary Basilar Invagination
• Primary Biliary Cholangitis
• Primary CD59 Deficiency
• Primary Ciliary Dyskinesia
• Primary Cutaneous Anaplastic Large Cell Lymphoma
• Primary Erythromelalgia
• Primary Failure Of Tooth Eruption
• Primary Familial Polycythemia Due To EPO Receptor Mutation
• Primary Fanconi Syndrome
• Primary Hypereosinophilic Syndrome
• Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
• Primary Hyperoxaluria
• Primary Hyperoxaluria Type 3
• Primary Hyperoxaluria, Type I
• Primary Hyperoxaluria, Type II
• Primary Hypomagnesemia
• Primary Hypomagnesemia-Generalized Seizures-Intellectual Disability-Obesity Syndrome
• Primary Immunodeficiency Syndrome Due To p14 Deficiency
• Primary Immunodeficiency With Natural-Killer Cell Deficiency And Adrenal Insufficiency
• Primary Immunodeficiency With Post-Measles-Mumps-Rubella Vaccine Viral Infection
• Primary Intestinal Lymphangiectasia
• Primary Lateral Sclerosis
• Primary Mediastinal Large B-Cell Lymphoma
• Primary Membranoproliferative Glomerulonephritis
• Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
• Primary Myelofibrosis
• Primary Non-Essential Cutis Verticis Gyrata
• Primary Peritoneal Carcinoma
• Primary Progressive Non Fluent Aphasia
• Primary Pulmonary Hypoplasia
• Primary Pulmonary Tuberculosis
• Primary Sclerosing Cholangitis
• Primary Systemic Amyloidosis
• Primrose Syndrome
• PRKAR1B-Related Neurodegenerative Dementia With Intermediate Filaments
• Progeroid And Marfanoid Aspect-Lipodystrophy Syndrome
• Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome
• Progeroid Short Stature With Pigmented Nevi
• Progressive Bifocal Chorioretinal Atrophy
• Progressive Cavitating Leukoencephalopathy
• Progressive Deafness With Stapes Fixation
• Progressive Dementia With Neuroserpin Inclusion Bodies
• Progressive Demyelinating Neuropathy With Bilateral Striatal Necrosis
• Progressive Encephalomyelitis With Rigidity And Myoclonus
• Progressive Encephalopathy With Leukodystrophy Due To DECR Deficiency
• Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
• Progressive Familial Heart Block
• Progressive Familial Intrahepatic Cholestasis
• Progressive Familial Intrahepatic Cholestasis Type 1
• Progressive Familial Intrahepatic Cholestasis Type 2
• Progressive Familial Intrahepatic Cholestasis Type 3
• Progressive Hereditary Glomerulonephritis Without Deafness
• Progressive Hypotonia-Intellectual Disability-Facial Dysmorphism Syndrome Due To FYVE-Defective RBSN
• Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
• Progressive Myoclonic Epilepsy Type 3
• Progressive Myoclonic Epilepsy Type 6
• Progressive Myoclonic Epilepsy Type 7
• Progressive Myoclonic Epilepsy Type 8
• Progressive Myoclonic Epilepsy Type 9
• Progressive Myoclonic Epilepsy With Dystonia
• Progressive Myositis Ossificans
• Progressive Osseous Heteroplasia
• Progressive Pseudorheumatoid Dysplasia
• Progressive Retinal Dystrophy Due To Retinol Transport Defect
• Progressive Scapulohumeroperoneal Distal Myopathy
• Progressive Sclerosing Poliodystrophy
• Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
• Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
• Progressive Supranuclear Palsy
• Progressive Supranuclear Palsy-Corticobasal Syndrome
• Progressive Supranuclear Palsy-Parkinsonism Syndrome
• Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
• Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
• Prolactin-Producing Pituitary Gland Adenoma
• Prolidase Deficiency
• Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
• Properdin Deficiency, X-Linked
• Propionic Acidemia
• Proteosome-Associated Autoinflammatory Syndrome
• Proteus Syndrome
• Proteus-Like Syndrome
• Protoplasmic Astrocytoma
• Proximal 16p11.2 Microdeletion Syndrome
• Proximal Myopathy With Extrapyramidal Signs
• Proximal Myopathy With Focal Depletion Of Mitochondria
• Proximal Renal Tubular Acidosis
• Proximal Spinal Muscular Atrophy
• Proximal Symphalangism
• Proximal Tubulopathy-Diabetes Mellitus-Cerebellar Ataxia Syndrome
• PrP Systemic Amyloidosis
• Prune Belly Syndrome
• Pruritic Urticarial Papules And Plaques Of Pregnancy
• PSAT Deficiency
• Pseudo Von Willebrand Disease
• Pseudo-Hurler Polydystrophy
• Pseudo-TORCH Syndrome
• Pseudo-TORCH Syndrome 2
• Pseudo-TORCH Syndrome 3
• Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome
• Pseudoaminopterin Syndrome
• Pseudodiastrophic Dysplasia
• Pseudohypoaldosteronism Type 1
• Pseudohypoaldosteronism Type 2A
• Pseudohypoaldosteronism Type 2B
• Pseudohypoaldosteronism Type 2C
• Pseudohypoaldosteronism Type 2D
• Pseudohypoaldosteronism Type 2E
• Pseudohypoaldosteronism, Type 2
• Pseudohypoaldosteronism, Type IB1, Autosomal Recessive
• Pseudohypoparathyroidism Type 1B
• Pseudohypoparathyroidism Type 1C
• Pseudohypoparathyroidism Type I A
• Pseudohypoparathyroidism Type II
• Pseudoleprechaunism Syndrome, Patterson Type
• Pseudomyogenic Hemangioendothelioma
• Pseudoprogeria Syndrome
• Pseudopseudohypoparathyroidism
• Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
• Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
• Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome
• Pterin-4 Alpha-Carbinolamine Dehydratase 1 Deficiency
• Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
• Ptosis, Hereditary Congenital, 1
• Ptosis-Strabismus-Ectopic Pupils Syndrome
• Ptosis-Vocal Cord Paralysis Syndrome
• PULMONARY ALVEOLAR MICROLITHIASIS
• Pulmonary Atresia With Intact Ventricular Septum
• Pulmonary Atresia With Ventricular Septal Defect
• Pulmonary Langerhans Cell Histiocytosis
• Pulmonary Nodular Lymphoid Hyperplasia
• Pulmonary Venoocclusive Disease
• Pulverulent Cataract
• PUM1-Associated Developmental Disability-Ataxia-Seizure Syndrome
• Punctate Palmoplantar Keratoderma Type 1
• Punctate Palmoplantar Keratoderma Type 2
• PURA-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
• PURA-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
• Pure Gonadal Dysgenesis 46,XY
• Pure Hair And Nail Ectodermal Dysplasia
• Purine-Nucleoside Phosphorylase Deficiency
• Pustular Pyoderma Gangrenosum
• PYCR1-Related De Barsy Syndrome
• Pyknoachondrogenesis
• Pyknodysostosis
• Pyle Metaphyseal Dysplasia
• Pyoderma Gangrenosum-Acne-Suppurative Hidradenitis Syndrome
• Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
• Pyridoxal Phosphate-Responsive Seizures
• Pyridoxine-Dependent Epilepsy
• Pyropoikilocytosis, Hereditary
• Pyruvate Carboxylase Deficiency
• Pyruvate Carboxylase Deficiency, Benign Type
• Pyruvate Carboxylase Deficiency, Infantile Form
• Pyruvate Carboxylase Deficiency, Severe Neonatal Type
• Pyruvate Dehydrogenase Complex Deficiency
• Pyruvate Dehydrogenase E1-Alpha Deficiency
• Pyruvate Dehydrogenase E1-Beta Deficiency
• Pyruvate Dehydrogenase E2 Deficiency
• Pyruvate Dehydrogenase E3 Deficiency
• Pyruvate Dehydrogenase E3-Binding Protein Deficiency
• Pyruvate Dehydrogenase Phosphatase Deficiency
• Pyruvate Kinase Deficiency Of Red Cells

Q2▾

• Qazi Markouizos Syndrome
• Quebec Platelet Disorder

R120▾