Disease Name Symbol Acronym
Saal Bulas Syndrome SLB001
Sabinas Brittle Hair Syndrome SBN004
Saccharopinuria SCC002
Sackey Sakati Aur Syndrome SCK006
Sacral Agenesis with Vertebral Anomalies SCR035
Sacral Defect with Anterior Meningocele SCR020
Sacral Hemangiomas Multiple Congenital Abnormalities SCR021
Sacral Meningocele Conotruncal Heart Defects SCR022
Sacral Nerve Root Cysts SCR027
Sacral Plexopathy SCR023
Sacral Spinal Canal and Spinal Cord Meningioma SCR007
Sacrococcygeal Teratoma SCR024
Sacrum Chordoma SCR036
Saethre-Chotzen Syndrome STH001 SCS
Sagittal Sinus Thrombosis SGT001
Sagliker Syndrome SGL002
Saito Kuba Tsuruta Syndrome STK001
Sakati Syndrome SKT001
Sakoda Complex SKD001
Salcedo Syndrome SLC010
Salih Myopathy SLH001
Salivary Duct Calculi SLV024
Salivary Gland Adenoma, Pleomorphic SLV025
Salivary Gland Cancer SLV002
Salivary Gland Cancer, Adult SLV006
Salivary Gland Cancer, Childhood SLV007
Salivary Gland Disease SLV003
Salivary Gland Type Cancer of the Breast SLV014
Salivary Substance, Clostridium Botulinum Type SLV023
Sall4-Related Disorders SLL004
Salla Disease SLL003
Salmonellosis SLM003
Salpingitis SLP003
Salpingitis Isthmica Nodosa SLP002
Salpingo-Oophoritis SLP004
Salt and Pepper Developmental Regression Syndrome SLT014
Salt and Pepper Syndrome SLT013
Samd9l-Related Ataxia-Pancytopenia Syndrome SMD011
Sammartino Decreccio Syndrome SMM001
Samson Gardner Syndrome SMS001
Samson Viljoen Syndrome SMS002
Sanderson Fraser Syndrome SND003
Sandhaus Ben-Ami Syndrome SND004
Sandhoff Disease SND001
Sandifer Syndrome SND005
Santos Mateus Leal Syndrome SNT001
Santos Syndrome SNT006
Sapho Syndrome SPH001
Sarcocystosis SRC011
Sarcoid Meningitis SRC006
Sarcoidosis 1 SRC025
Sarcoidosis 2 SRC023
Sarcoidosis 3 SRC024
Sarcoma SRC014
Sarcoma, Synovial SRC027
Sarcomatoid Basal Cell Carcinoma SRC003
Sarcomatoid Mesothelioma SRC001
Sarcomatoid Penile Squamous Cell Carcinoma SRC005
Sarcomatoid Renal Cell Carcinoma SRC002
Sarcomatoid Squamous Cell Skin Carcinoma SRC008
Sarcomatoid Transitional Cell Carcinoma SRC007
Sarcomatoid Uterine Corpus Endometrioid Adenocarcinoma SRC012
Sarcomatosis SRC009
Sarcomatosis of the Meninges SRC010
Sarcomatous Intrahepatic Cholangiocarcinoma SRC004
Sarcosinemia SRC015
Satb2-Associated Syndrome STB002
Satoyoshi Syndrome STY001
Saul Wilkes Stevenson Syndrome SLW002
Say Barber Miller Syndrome SYB001
Say Carpenter Syndrome SYC001
Say Meyer Syndrome SYM004
Say Syndrome SYS006
Say-Field-Coldwell Syndrome SYF001
Sc Phocomelia Syndrome SCP001
Sc(1) Trait of Saliva SC1001
Scabies SCB001
Scalp Defects and Postaxial Polydactyly SCL051
Scalp Dermatosis SCL001
Scalp Syndrome SCL044
Scalp-Ear-Nipple Syndrome SCL046
Scaphocephaly, Maxillary Retrusion, and Mental Retardation SCP007
Scapula, Contour of Vertebral Border of SCP011
Scapuloperoneal Myopathy SCP010
Scapuloperoneal Myopathy, Myh7-Related SCP012
Scapuloperoneal Myopathy, X-Linked Dominant SCP009
Scapuloperoneal Spinal Muscular Atrophy SCP002
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type SCP005
Scar Contracture SCR033
Scarf Syndrome SCR025
Scarlet Fever SCR015
Scarring in Glaucoma Filtration Surgical Procedures SCR032
Scedosporiosis SCD003
Schaaf-Yang Syndrome SCH071
Schaap Taylor Baraitser Syndrome SCH020
Schaefer Stein Oshman Syndrome SCH021
Scheie Syndrome SCH036
Scheuermann Disease SCH072
Schilbach-Rott Syndrome SCH055
Schimke Immunoosseous Dysplasia SCH016
Schimke X-Linked Mental Retardation Syndrome SCH022
Schimmelpenning-Feuerstein-Mims Syndrome SCH078
Schindler Disease SCH017
Schindler Disease, Type I SCH069
Schinzel Giedion Syndrome SCH024
Schinzel-Giedion Midface Retraction Syndrome SCH037
Schisis Association SCH025
Schistosoma Mansoni Infection, Susceptibility/ SCH060
Schistosomiasis SCH014
Schizencephaly SCH018
Schizoaffective Disorder SCH012
Schizoid Personality Disorder SCH004
Schizophrenia SCH015
Schizophrenia 1 SCH079
Schizophrenia 10 SCH064
Schizophrenia 11 SCH086
Schizophrenia 12 SCH045
Schizophrenia 13 SCH053
Schizophrenia 14 SCH052
Schizophrenia 15 SCH056
Schizophrenia 16 SCH061
Schizophrenia 18 SCH087
Schizophrenia 19 SCH075
Schizophrenia 2 SCH085
Schizophrenia 3 SCH080
Schizophrenia 4 SCH051
Schizophrenia 5 SCH082
Schizophrenia 6 SCH081
Schizophrenia 7 SCH083
Schizophrenia 8 SCH084
Schizophrenia 9 SCH073
Schizophreniform Disorder SCH003
Schizotypal Personality Disorder SCH011
Schlegelberger Grote Syndrome SCH028
Schmitt Gillenwater Kelly Syndrome SCH029
Schneckenbecken Dysplasia SCH030
Schneiderian Carcinoma SCH010
Schnitzler Syndrome SCH002
Schnyder Corneal Dystrophy SCH076 SCCD
Scholte Syndrome SCH031
Schopf-Schulz-Passarge Syndrome SCH038
Schrander-Stumpel Theunissen Hulsmans Syndrome SCH032
Schuurs-Hoeijmakers Syndrome SCH074
Schwannian Stroma-Rich and Stroma-Poor Composite Ganglioneuroblastoma SCH005
Schwannoma of Jugular Foramen SCH006
Schwannoma of Twelfth Cranial Nerve SCH001
Schwannoma of Ureter SCH013
Schwannomatosis 1 SCH077
Schwannomatosis 2 SCH088
Schwartz Cohen-Addad Lambert Syndrome SCH034
Schwartz-Jampel Syndrome, Type 1 SCH068
Sciatic Neuropathy SCT001
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities SCM002
Scirrhous Adenocarcinoma SCR009
Scleral Disease SCL013
Scleral Staphyloma SCL014
Scleredema SCL022
Scleredema Adultorum SCL002
Scleritis SCL015
Sclerocornea SCL047
Sclerocornea, Autosomal Dominant SCL053
Sclerocornea, Syndactyly, Ambiguous Genitalia SCL024
Scleroderma, Familial Progressive SCL052
Scleromalacia Perforans SCL008
Scleromyxedema SCL025
Scleromyxedema Without Monoclonal Gammopathy SCL040
Scleroperikeratitis SCL005
Sclerosing Adenosis of Breast SCL012
Sclerosing Breast Papilloma SCL010
Sclerosing Cholangitis SCL009
Sclerosing Cholangitis, Neonatal SCL056
Sclerosing Hemangioma SCL017
Sclerosing Hepatic Carcinoma SCL007
Sclerosing Keratitis SCL011
Sclerosing Liposarcoma SCL004
Sclerosing Mucoepidermoid Carcinoma with Eosinophilia SCL043
Sclerosing Perineurioma SCL041
Sclerosteosis SCL048
Sclerosteosis 1 SCL045
Sclerosteosis 2 SCL042
Scn1a-Related Seizure Disorders SCN009
Scn2a Related Disorders SCN063
Scn8a Encephalopathy SCN061
Scn8a-Related Epilepsy with Encephalopathy SCN060
Scn9a-Related Inherited Erythromelalgia SCN010
Scoliosis SCL018
Scoliosis with Unilateral Unsegmented Bar SCL028
Scoliosis, Arachnodactyly, and Blindness SCL050
Scoliosis, Isolated 1 SCL057
Scoliosis, Isolated 2 SCL058
Scoliosis, Isolated 3 SCL049
Scoliosis, Isolated 4 SCL059
Scoliosis, Isolated 5 SCL060
Scorpion Envenomation SCR039
Scotoma SCT002
Scott Bryant Graham Syndrome SCT004
Scott Syndrome SCT005
Scrapie SCR011
Screw Worm Infectious Disease SCR006
Scrotal Angioma SCR010
Scrotal Carcinoma SCR016
Scrotum Basal Cell Carcinoma SCR014
Scrotum Melanoma SCR012
Scrotum Paget's Disease SCR005
Scrotum Squamous Cell Carcinoma SCR013
Scrub Typhus SCR008
Sea-Blue Histiocyte Disease SBL008
Seaver Cassidy Syndrome SVR009
Sebaceous Adenocarcinoma SBC011
Sebaceous Adenoma SBC009
Sebaceous Basal Cell Carcinoma SBC013
Sebaceous Breast Carcinoma SBC008
Sebaceous Gland Disease SBC017
Sebaceous Gland Hyperplasia, Familial Presenile SBC022
Seborrhea-Like Dermatitis with Psoriasiform Elements SBR007
Seborrheic Dermatitis SBR004
Seborrheic Infantile Dermatitis SBR001
Secernentea Infections SCR026
Seckel Like Syndrome Majoor-Krakauer Type SCK007
Seckel Syndrome SCK004
Seckel Syndrome 1 SCK009
Seckel Syndrome 10 SCK038
Seckel Syndrome 2 SCK015
Seckel Syndrome 4 SCK010
Seckel Syndrome 5 SCK011
Seckel Syndrome 6 SCK032
Seckel Syndrome 7 SCK029
Seckel Syndrome 8 SCK033
Seckel Syndrome 9 SCK037
Second Metatarsal-Metacarpal Syndrome SCN065
Second-Degree Atrioventricular Block SCN049
Secondary Acute Transverse Myelitis SCN040
Secondary Adrenal Insufficiency SCN052
Secondary Central Precocious Puberty SCN039
Secondary Corneal Edema SCN003
Secondary Hypereosinophilic Syndrome SCN042
Secondary Hyperparathyroidism of Renal Origin SCN001
Secondary Hypertrophic Osteoarthropathy SCN005
Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion SCN062
Secondary Intestinal Lymphangiectasia SCN043
Secondary Lacrimal Atrophy SCN002
Secondary Non-Traumatic Avascular Necrosis SCN050
Secondary Polyarteritis Nodosa SCN055
Secondary Progressive Multiple Sclerosis SCN036
Secondary Pulmonary Alveolar Proteinosis SCN051
Secondary Pulmonary Hemosiderosis SCN047
Secondary Sclerosing Cholangitis SCN059
Secondary Short Bowel Syndrome SCN046
Secondary Syphilis SCN006
Secondary Syringomyelia SCN048
Secondary Vitreoretinal Degeneration SCN004
Secretory Component Deficiency SCR040
Secretory Diarrhea SCR003
Secretory Diarrhea, Myopathy, and Deafness SCR042
Secretory Meningioma SCR001
Secretory Uterine Corpus Endometrioid Adenocarcinoma SCR004
Sedoheptulokinase Deficiency SDH011
Segawa Syndrome, Autosomal Recessive SGW002
Segmental Dystonia SGM008
Segmental Odontomaxillary Dysplasia SGM006
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome SGM010
Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia SGM005
Segmentation Syndrome 1 SGM003
Seizure Disorder SZR006
Seizures Benign Familial Neonatal Recessive Form SZR003
Seizures Mental Retardation Hair Dysplasia SZR004
Seizures, Benign Familial Infantile, 1 SZR014
Seizures, Benign Familial Infantile, 2 SZR016
Seizures, Benign Familial Infantile, 3 SZR007
Seizures, Benign Familial Infantile, 4 SZR011
Seizures, Benign Familial Infantile, 5 SZR020
Seizures, Benign Familial Neonatal, 1 SZR022 BFNS1
Seizures, Benign Familial Neonatal, 2 SZR023 BFNS2
Seizures, Benign Familial Neonatal, 3 SZR025
Seizures, Benign Familial Neonatal, Autosomal Recessive SZR024
Seizures, Cortical Blindness, and Microcephaly Syndrome SZR027
Seizures, Scoliosis, and Macrocephaly Syndrome SZR018
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance SZR026
Selection of Therapeutic Option in Colorectal Cancer SLC026
Selective Igd Deficiency Disease SLC001
Selective Ige Deficiency Disease SLC002
Selective Igg Deficiency Disease SLC004
Selective Igm Deficiency Disease SLC003
Selective Immunoglobulin Deficiency Disease SLC007
Selenium Poisoning SLN002
Self-Healing Papular Mucinosis SLF008
Self-Improving Collodion Baby SLF015
Selig Benacerraf Greene Syndrome SLG001
Sella Turcica Neoplasm SLL002
Sella Turcica, Bridged SLL008
Semantic Agnosia SMN003
Semantic Dementia SMN008
Semicircular Canal Dehiscence Syndrome SMC003
Semilobar Holoprosencephaly SML028
Seminal Vesicle Acute Gonorrhea SMN001
Seminal Vesicle Adenocarcinoma SMN005
Seminal Vesicle Chronic Gonorrhea SMN004
Seminal Vesicle Cystadenoma SMN002
Seminal Vesicle Tumor SMN006
Seminoma SMN007
Semmekrot Haraldsson Weemaes Syndrome SMM002
Sener Syndrome SNR002
Sengers Syndrome SNG007
Senile Angioma SNL003
Senile Atrophy of Choroid SNL006
Senile Cataract SNL007
Senile Degeneration of Brain SNL005
Senile Ectropion SNL004
Senile Entropion SNL001
Senile Plaque Formation SNL009
Senile Reticular Retinal Degeneration SNL002
Senior-Boichis Syndrome SNR014
Senior-Loken Syndrome 1 SNR003
Senior-Loken Syndrome 3 SNR011
Senior-Loken Syndrome 4 SNR004
Senior-Loken Syndrome 5 SNR005
Senior-Loken Syndrome 6 SNR006
Senior-Loken Syndrome 7 SNR007
Senior-Loken Syndrome 8 SNR015
Senior-Loken Syndrome 9 SNR016
Senior-Løken Syndrome SNR010
Sennetsu Fever SNN001
Sensorineural Hearing Loss SNS001
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome SNS024
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth SNS025
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis SNS008
Sensory Neuropathy Type 1 SNS009
Sensory Organ Benign Neoplasm SNS004
Sensory Peripheral Neuropathy SNS003
Sensory System Cancer SNS023
Seow Najjar Syndrome SWN002
Separation Anxiety Disorder SPR012
Sepsis in Premature Infants SPS090
Septal Myocardial Infarction SPT001
Septate Vagina SPT015
Septic Arthritis SPT004
Septic Myocarditis SPT003
Septicemic Plague SPT002
Septo-Optic Dysplasia Spectrum SPT019
Septooptic Dysplasia SPT006
Septopreoptic Holoprosencephaly SPT016
Sequeiros Sack Syndrome SQR001
Seres-Santamaria Arimany Muniz Syndrome SRS008
Serine Deficiency SRN001
Serotonin Syndrome SRT004
Serotonin-Producing Neuroendocrine Tumor of Pancreas SRT005
Serous Conjunctivitis Except Viral SRS003
Serous Cystadenocarcinoma SRS001
Serous Glue Ear SRS002
Serous Labyrinthitis SRS004
Serous or Mucinous Cystadenoma of Childhood SRS013
Serous Surface Papilloma SRS005
Serpiginous Choroiditis SRP002
Sertoli Cell Tumor SRT002
Sertoli-Leydig Cell Tumor SRT003
Sessile Serrated Polyposis Cancer Syndrome SSS001
Setariasis STR012
Setbp1 Disorder STB003
Setting-Sun Phenomenon, Familial Benign STT047
Severe Acute Respiratory Syndrome SVR001
Severe Combined Immunodeficiency SVR004
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation SVR032
Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation SVR010
Severe Combined Immunodeficiency, Atypical SVR011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency SVR095 ADASCID
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative SVR096
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive SVR098
Severe Combined Immunodeficiency, X-Linked SVR066
Severe Congenital Nemaline Myopathy SVR040
Severe Congenital Neutropenia SVR003
Severe Congenital Neutropenia Autosomal Dominant SVR012
Severe Cutaneous Adverse Reaction SVR097
Severe Early-Childhood-Onset Retinal Dystrophy SVR058
Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency SVR052
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency SVR045
Severe Hemophilia a SVR056
Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency SVR099
Severe Infantile Axonal Neuropathy SVR017
Severe Intellectual Disability and Progressive Spastic Paraplegia SVR080
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia SVR086
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome SVR082
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome SVR093
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome SVR061
Severe Lateral Tibial Bowing with Short Stature SVR046
Severe Nonproliferative Diabetic Retinopathy SVR002
Severe Pre-Eclampsia SVR005
Severe X-Linked Intellectual Disability, Gustavson Type SVR060
Sex Cord-Gonadal Stromal Tumor SXC001
Sex Differentiation Disease SXD001
Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus SXH002
Sexual Disorder SXL003
Sexual Masochism SXL002
Sexual Sadism SXL001
Sezary's Disease SZR001
Shaheen Syndrome SHH004
Shaken Baby Syndrome SHK001
Shapiro Syndrome SHP003
Shashi-Pena Syndrome SHS001
Shaver's Disease SHV001
Sheehan Syndrome SHH001
Shigellosis SHG001
Shipyard Eye SHP001
Shith Filkins Syndrome SHT001
Shone Complex SHN001
Short Bowel Syndrome SHR001
Short Broad Great Toe Macrocranium SHR005
Short Fifth Metacarpals-Insulin Resistance Syndrome SHR095
Short Limb Dwarf Edema Iris Coloboma SHR006
Short Limb Dwarf Lethal Colavita Kozlowski Type SHR007
Short Limbs Abnormal Face Congenital Heart Disease SHR008
Short Limbs Subluxed Knees Cleft Palate SHR009
Short Qt Syndrome SHR030
Short Qt Syndrome 1 SHR031
Short Qt Syndrome 2 SHR032
Short Qt Syndrome 3 SHR033
Short Ribs Craniosynostosis Polysyndactyly SHR012
Short Sleeper SHR040
Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans SHR106
Short Stature and Facioauriculothoracic Malformations SHR111
Short Stature Contractures Hypotonia SHR014
Short Stature Cranial Hyperostosis Hepatomegaly SHR015
Short Stature Deafness Neutrophil Dysfunction SHR016
Short Stature Dysmorphic Face Pelvic Scapula Dysplasia SHR017
Short Stature Microcephaly Seizures Deafness SHR019
Short Stature Monodactylous Ectrodactyly Cleft Palate SHR020
Short Stature Prognathism Short Femoral Necks SHR021
Short Stature Robin Sequence Cleft Mandible Hand Anomalies Clubfoot SHR022
Short Stature Syndrome, Brussels Type SHR023
Short Stature Talipes Natal Teeth SHR024
Short Stature Valvular Heart Disease SHR025
Short Stature with Microcephaly and Distinctive Facies SHR065
Short Stature with Nonspecific Skeletal Abnormalities SHR084
Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome SHR049
Short Stature Wormian Bones Dextrocardia SHR027
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome SHR094
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome SHR089
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome SHR090
Short Stature-Obesity Syndrome SHR107
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities SHR109
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures SHR102
Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes SHR028
Short Stature, Developmental Delay, and Congenital Heart Defects SHR103
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies SHR114
Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies SHR112
Short Stature, Idiopathic, X-Linked SHR108
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting SHR110
Short Stature, Microcephaly, and Endocrine Dysfunction SHR082
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis SHR059
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly SHR058
Short Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay SHR105
Short Syndrome SHR029
Short Tarsus with Absence of Lower Eyelashes SHR097
Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms SHR117
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency SHR096
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly SHR074
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly SHR064
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly SHR071
Short-Rib Thoracic Dysplasia 12 SHR098
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly SHR083
Short-Rib Thoracic Dysplasia 14 with Polydactyly SHR085
Short-Rib Thoracic Dysplasia 15 with Polydactyly SHR100
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly SHR101
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly SHR104
Short-Rib Thoracic Dysplasia 18 with Polydactyly SHR113
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly SHR115
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly SHR067
Short-Rib Thoracic Dysplasia 20 with Polydactyly SHR116
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly SHR072
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly SHR066
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly SHR068
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly SHR069
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly SHR063
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly SHR070
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly SHR075
Shoulder and Thorax Deformity Congenital Heart Disease SHL002
Shoulder Girdle Defect Mental Retardation Familial SHL003
Shoulder Impingement Syndrome SHL001
Shox Deficiency Disorders SHX003
Shprintzen Omphalocele Syndrome SHP004
Shprintzen-Goldberg Craniosynostosis Syndrome SHP005
Shwachman-Diamond Syndrome 1 SHW006
Shwachman-Diamond Syndrome 2 SHW007
Shwachman-Diamond Type Metaphyseal Dysplasia SHW005
Shwartzman Phenomenon SHW001
Sialadenitis SLD003
Sialolithiasis SLL001
Sialuria SLR001
Siberian Tick Typhus SBR002
Sick Building Syndrome SCK001
Sick Sinus Syndrome SCK002
Sick Sinus Syndrome 1 SCK017
Sick Sinus Syndrome 2 SCK014
Sick Sinus Syndrome 3 SCK022
Sickle Beta Thalassemia SCK034
Sickle Cell - Hemoglobin D Disease SCK020
Sickle Cell Anemia SCK003
Sickle Cell Disease SCK005
Sickle Cell Disease Associated with an Other Hemoglobin Anomaly SCK036
Sickle Delta Beta Thalassemia SCK008
Sideroblastic Anemia SDR003
Sideroblastic Anemia Acquired SDR005
Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay SDR009
Siderosis SDR002
Siderosis of Eye SDR001
Siegler Brewer Carey Syndrome SGL001
Sifrim-Hitz-Weiss Syndrome SFR001
Sigmoid Disease SGM001
Sigmoid Neoplasm SGM002
Signet Ring Basal Cell Carcinoma SGN001
Signet Ring Cell Adenocarcinoma SGN002
Signet Ring Cell Intrahepatic Cholangiocarcinoma SGN003
Signet Ring Cell Variant Cervical Mucinous Adenocarcinoma SGN004
Signet Ring Lung Adenocarcinoma SGN005
Silengo Lerone Pelizza Syndrome SLN003
Silent Myocardial Infarction SLN001
Silent Pituitary Adenoma SLN005
Silent Sinus Syndrome SLN006
Silicosiderosis SLC011
Silicosis SLC006
Sillence Syndrome SLL006
Silo Filler's Disease SLF002
Silver-Russell Syndrome SLV001
Silver-Russell Syndrome Due to 11p15 Microduplication SLV018
Silver-Russell Syndrome Due to 7p11.2p13 Microduplication SLV016
Silver-Russell Syndrome Due to a Point Mutation SLV020
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 SLV022
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 SLV015
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 SLV019
Silvery Hair Syndrome SLV008
Simian B Virus Infection SMN009
Simosa Craniofacial Syndrome SMS004
Simple Chronic Conjunctivitis SMP002
Simple Cryoglobulinemia SMP006
Simple Partial Epilepsy SMP001
Simpson-Golabi-Behmel Syndrome SMP003
Simpson-Golabi-Behmel Syndrome, Type 1 SMP007
Simpson-Golabi-Behmel Syndrome, Type 2 SMP005
Simultanagnosia SML010
Sin3a-Related Intellectual Disability Syndrome SN3001
Sinding-Larsen-Johansson Disease SND010
Singh Chhaparwal Dhanda Syndrome SNG001
Single Ventricular Heart SNG003
Single-Organ Polyarteritis Nodosa SNG013
Singleton-Merten Syndrome SNG014
Singleton-Merten Syndrome 1 SNG011
Singleton-Merten Syndrome 2 SNG012
Sino-Auricular Heart Block SNR013
Sinoatrial Node Disease SNT005
Sinoatrial Node Dysfunction and Deafness SNT004
Sinonasal Undifferentiated Carcinoma SNN002
Sinus Cancer SNS011
Sinus Node Disease and Myopia SNS012
Sinusitis SNS014
Sirenomelia SRN002
Sister Chromatid Exchange, Frequency of SST003
Sitosterolemia STS003
Situs Inversus STS002
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas STS005
Six2-Related Frontonasal Dysplasia SX2003
Sjogren Syndrome SJG008
Sjogren-Larsson Syndrome SJG002
Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement SJG009
Sjogren-Larsson-Like Syndrome SJG003
Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease SJG004
Skeletal Defects, Genital Hypoplasia, and Mental Retardation SKL011
Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal SKL027
Skeletal Dysplasia Orofacial Anomalies SKL008
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification SKL026
Skeletal Dysplasia-T Cell Immunodeficiency-Developmental Delay Syndrome SKL029
Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa SKL028
Skeletal Dysplasia, San Diego Type SKL009
Skeletal Dysplasias SKL017
Skeletal Muscle Cancer SKL003
Skeletal Tuberculosis SKL001
Skeletal-Extraskeletal Angiomatosis SKL024
Skeleto Cardiac Syndrome with Thrombocytopenia SKL010
Skin Amelanotic Melanoma SKN004
Skin Angiosarcoma SKN001
Skin Atrophy SKN005
Skin Benign Neoplasm SKN013
Skin Cancer, Non Melanoma, Childhood SKN026
Skin Carcinoma in Situ SKN012
Skin Conditions SKN027
Skin Creases, Congenital Symmetric Circumferential, 1 SKN063
Skin Creases, Congenital Symmetric Circumferential, 2 SKN062
Skin Disease SKN016
Skin Epithelioid Hemangioma SKN010
Skin Fragility-Woolly Hair Syndrome SKN024
Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome SKN061
Skin Glomangioma SKN017
Skin Glomus Tumor SKN008
Skin Granular Cell Tumor SKN009
Skin Hemangioma SKN018
Skin Lipoma SKN002
Skin Melanoma SKN019
Skin Meningioma SKN007
Skin Papilloma SKN020
Skin Pilomatrix Carcinoma SKN011
Skin Sarcoidosis SKN006
Skin Sarcoma SKN021
Skin Squamous Cell Carcinoma SKN022
Skin Tag SKN023
Skin/hair/eye Pigmentation, Variation in, 1 SKN065
Skin/hair/eye Pigmentation, Variation in, 10 SKN072
Skin/hair/eye Pigmentation, Variation in, 11 SKN060
Skin/hair/eye Pigmentation, Variation in, 2 SKN067
Skin/hair/eye Pigmentation, Variation in, 3 SKN068
Skin/hair/eye Pigmentation, Variation in, 5 SKN066
Skin/hair/eye Pigmentation, Variation in, 6 SKN064
Skin/hair/eye Pigmentation, Variation in, 7 SKN069
Skin/hair/eye Pigmentation, Variation in, 8 SKN070
Skin/hair/eye Pigmentation, Variation in, 9 SKN071
Skraban-Deardorff Syndrome SKR001
Skull Base Meningioma SKL005
Skull Base Neoplasm SKL006
Slate Pneumoconiosis SLT003
Slavotinek Pike Mills Hurst Syndrome SLV009
Slc35a2-Cdg SLC027
Slc39a14 Deficiency SLC035
Slc4a1-Associated Distal Renal Tubular Acidosis SLC024
Slc6a3-Related Dopamine Transporter Deficiency Syndrome SLC036
Sleep Apnea SLP006
Sleep Disorder SLP005
Sleeping Sickness SLP001
Slipped Capital Femoral Epiphysis SLP010
Slipped Femoral Capital Epiphyses SLP011
Slow-Channel Congenital Myasthenic Syndrome SLW003
Slowed Nerve Conduction Velocity, Autosomal Dominant SLW005
Slti Salem Syndrome SLT006
Sm-Ahnmd SMH001
Small Bowel Fibrosarcoma SML012
Small Cell Cancer of the Lung SML038
Small Cell Carcinoma SML001
Small Cell Carcinoma of the Bladder SML031
Small Cell Lung Cancer, Adult SML023
Small Cell Lung Cancer, Childhood SML022
Small Cell Osteogenic Sarcoma SML003
Small Cell Sarcoma SML002
Small Intestinal Adenocarcinoma SML036
Small Intestinal L-Cell Glucagon-Like Peptide Producing Tumor SML013
Small Intestinal Sarcoma SML015
Small Intestinal Vasoactive Intestinal Peptide Producing Tumor SML007
Small Intestine Cancer SML016
Small Intestine Cancer, Childhood SML024
Small Intestine Carcinoid Neuroendocrine Tumor SML035
Small Intestine Diverticulitis SML005
Small Intestine Leiomyoma SML006
Small Intestine Leiomyosarcoma SML014
Small Intestine Lymphoma SML008
Small Intestine Neuroendocrine Neoplasm SML004
Small Non-Cleaved Cell Lymphoma SML025
Smallpox SML019
Smarca4-Deficient Sarcoma of Thorax SMR006
Smith-Kingsmore Syndrome SMT020
Smith-Lemli-Opitz Syndrome SMT004
Smith-Magenis Syndrome SMT008
Smith-Mccort Dysplasia 1 SMT022
Smith-Mccort Dysplasia 2 SMT018
Smoking As a Quantitative Trait Locus 1 SMK001
Smoking As a Quantitative Trait Locus 2 SMK002
Smoking As a Quantitative Trait Locus 3 SMK004
Smoldering Myeloma SML011
Smooth Muscle Tumor SMT002
Smouldering Systemic Mastocytosis SML030
Snail Allergy SNL011
Snakebite Envenomation SNK001
Sneddon Syndrome SND002
Social Emotional Agnosia SCL006
Social Phobia SCL003
Sodium Channelopathy-Related Small Fiber Neuropathy SDM003
Sodium Serum Level Quantitative Trait Locus 1 SDM005
Sodium-Potassium-Atpase Activity of Red Cell SDM004
Sodoku Disease SDK001
Soft Palate Cancer SFT002
Soft Tissue Peripheral Neuroepithelioma SFT001
Soft Tissue Sarcoma SFT003
Soft Tissue Sarcoma Childhood SFT004
Sohval Soffer Syndrome SHV002
Solar Retinopathy SLR002
Solar Urticaria SLR005
Solid Adenocarcinoma with Mucin Production SLD013
Solid Pattern Testicular Yolk Sac Tumor SLD001
Solid Pseudopapillary Carcinoma of the Pancreas SLD012
Solitary Bone Cyst SLT009
Solitary Cyst of Breast SLT004
Solitary Median Maxillary Central Incisor SLT005
Solitary Necrotic Nodule of the Liver SLT015
Solitary Osseous Plasmacytoma SLT001
Solitary Plasmacytoma of Chest Wall SLT002
Solitary Rectal Ulcer Syndrome SLT007
Soluble Interleukin-6 Receptor, Serum Level of, Quantitative Trait Locus SLB002
Somatization Disorder SMT001
Somatoform Disorder SMT006
Somatomammotropinoma SMT017
Somatomedin, Embryonic SMT021
Somatostatinoma SMT003
Sonoda Syndrome SND006
Sorsby Fundus Dystrophy SRS007
Sosby Syndrome SSB001
Sost-Related Sclerosing Bone Dysplasias SST002
Sotos Syndrome 1 STS008 SOTOS1
Sotos Syndrome 2 STS007
Sotos Syndrome 3 STS009
Sox2-Related Eye Disorders SX2001
Space Motion Sickness SPC001
Sparganosis SPR006
Sparse Hair-Short Stature-Skin Anomalies Syndrome SPR107
Spasmodic Dysphonia SPS016
Spasmodic Dystonia SPS134
Spasmus Nutans SPS087
Spastic Angina with Healthy Coronary Artery SPS017
Spastic Ataxia SPS008
Spastic Ataxia 1 SPS162
Spastic Ataxia 1, Autosomal Dominant SPS072 SPAX1
Spastic Ataxia 2 SPS170
Spastic Ataxia 2, Autosomal Recessive SPS142
Spastic Ataxia 3 SPS163
Spastic Ataxia 3, Autosomal Recessive SPS136
Spastic Ataxia 4 SPS214
Spastic Ataxia 4, Autosomal Recessive SPS208
Spastic Ataxia 5 SPS171
Spastic Ataxia 5, Autosomal Recessive SPS212
Spastic Ataxia 7 SPS172
Spastic Ataxia 7, Autosomal Dominant SPS191 SPAX7
Spastic Ataxia 8 SPS229
Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy SPS209
Spastic Ataxia, Charlevoix-Saguenay Type SPS150
Spastic Cerebral Palsy SPS007
Spastic Diplegia SPS003
Spastic Diplegia and Mental Retardation SPS218
Spastic Diplegia Cerebral Palsy SPS093
Spastic Ectropion SPS001
Spastic Entropion SPS002
Spastic Hemiplegia SPS005
Spastic Monoplegia SPS006
Spastic Paralysis, Infantile-Onset Ascending SPS225
Spastic Paraparesis SPS019
Spastic Paraparesis and Deafness SPS192
Spastic Paraplegia 1 SPS020
Spastic Paraplegia 10 SPS021
Spastic Paraplegia 10, Autosomal Dominant SPS117
Spastic Paraplegia 11 SPS092
Spastic Paraplegia 11, Autosomal Recessive SPS151
Spastic Paraplegia 12 SPS022
Spastic Paraplegia 12, Autosomal Dominant SPS131
Spastic Paraplegia 13 SPS023
Spastic Paraplegia 13, Autosomal Dominant SPS097
Spastic Paraplegia 14 SPS024
Spastic Paraplegia 14, Autosomal Recessive SPS068
Spastic Paraplegia 15 SPS025
Spastic Paraplegia 15, Autosomal Recessive SPS125
Spastic Paraplegia 16 SPS026
Spastic Paraplegia 16, X-Linked SPS198
Spastic Paraplegia 17 SPS027
Spastic Paraplegia 17, Autosomal Dominant SPS219
Spastic Paraplegia 18 SPS028
Spastic Paraplegia 18, Autosomal Recessive SPS107
Spastic Paraplegia 19 SPS029
Spastic Paraplegia 19, Autosomal Dominant SPS110
Spastic Paraplegia 2, X-Linked SPS133
Spastic Paraplegia 20, Autosomal Recessive SPS222
Spastic Paraplegia 23 SPS031
Spastic Paraplegia 24 SPS032
Spastic Paraplegia 24, Autosomal Recessive SPS120
Spastic Paraplegia 25 SPS033
Spastic Paraplegia 25, Autosomal Recessive SPS102
Spastic Paraplegia 26 SPS034
Spastic Paraplegia 26, Autosomal Recessive SPS116
Spastic Paraplegia 27, Autosomal Recessive SPS111
Spastic Paraplegia 28, Autosomal Recessive SPS124
Spastic Paraplegia 29 SPS035
Spastic Paraplegia 29, Autosomal Dominant SPS094
Spastic Paraplegia 3 SPS036
Spastic Paraplegia 3, Autosomal Dominant SPS215
Spastic Paraplegia 30, Autosomal Recessive SPS098
Spastic Paraplegia 31 SPS037
Spastic Paraplegia 31, Autosomal Dominant SPS148
Spastic Paraplegia 32 SPS161
Spastic Paraplegia 32, Autosomal Recessive SPS123
Spastic Paraplegia 33, Autosomal Dominant SPS113
Spastic Paraplegia 34, X-Linked SPS062
Spastic Paraplegia 35, Autosomal Recessive SPS153
Spastic Paraplegia 36, Autosomal Dominant SPS118
Spastic Paraplegia 37, Autosomal Dominant SPS105
Spastic Paraplegia 38, Autosomal Dominant SPS100
Spastic Paraplegia 39 SPS038
Spastic Paraplegia 39, Autosomal Recessive SPS129
Spastic Paraplegia 3a SPS012
Spastic Paraplegia 4 SPS091
Spastic Paraplegia 4, Autosomal Dominant SPS147
Spastic Paraplegia 41, Autosomal Dominant SPS115
Spastic Paraplegia 42, Autosomal Dominant SPS099
Spastic Paraplegia 43, Autosomal Recessive SPS130
Spastic Paraplegia 44, Autosomal Recessive SPS096
Spastic Paraplegia 45, Autosomal Recessive SPS114
Spastic Paraplegia 46, Autosomal Recessive SPS109
Spastic Paraplegia 47, Autosomal Recessive SPS095
Spastic Paraplegia 48, Autosomal Recessive SPS071
Spastic Paraplegia 49, Autosomal Recessive SPS126
Spastic Paraplegia 50, Autosomal Recessive SPS103
Spastic Paraplegia 51 SPS080
Spastic Paraplegia 51, Autosomal Recessive SPS152
Spastic Paraplegia 52, Autosomal Recessive SPS122
Spastic Paraplegia 53, Autosomal Recessive SPS104
Spastic Paraplegia 54, Autosomal Recessive SPS106
Spastic Paraplegia 55, Autosomal Recessive SPS119
Spastic Paraplegia 56, Autosomal Recessive SPS101
Spastic Paraplegia 57, Autosomal Recessive SPS137
Spastic Paraplegia 5a SPS039
Spastic Paraplegia 5a, Autosomal Recessive SPS108
Spastic Paraplegia 5b SPS040
Spastic Paraplegia 6 SPS041
Spastic Paraplegia 6, Autosomal Dominant SPS127
Spastic Paraplegia 61, Autosomal Recessive SPS141
Spastic Paraplegia 62, Autosomal Recessive SPS227
Spastic Paraplegia 63, Autosomal Recessive SPS228
Spastic Paraplegia 64, Autosomal Recessive SPS157
Spastic Paraplegia 7, Autosomal Recessive SPS128
Spastic Paraplegia 72, Autosomal Recessive SPS138
Spastic Paraplegia 73, Autosomal Dominant SPS160
Spastic Paraplegia 74, Autosomal Recessive SPS156
Spastic Paraplegia 75, Autosomal Recessive SPS213
Spastic Paraplegia 76, Autosomal Recessive SPS210
Spastic Paraplegia 77, Autosomal Recessive SPS206
Spastic Paraplegia 78, Autosomal Recessive SPS203
Spastic Paraplegia 79, Autosomal Recessive SPS205
Spastic Paraplegia 8 SPS013
Spastic Paraplegia 8, Autosomal Dominant SPS149
Spastic Paraplegia 9 SPS042
Spastic Paraplegia 9a, Autosomal Dominant SPS158
Spastic Paraplegia 9b, Autosomal Recessive SPS159
Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation SPS043
Spastic Paraplegia and Evans Syndrome SPS223
Spastic Paraplegia and Psychomotor Retardation with or Without Seizures SPS207
Spastic Paraplegia Facial Cutaneous Lesions SPS045
Spastic Paraplegia with Associated Extrapyramidal Signs SPS216
Spastic Paraplegia with Myoclonic Epilepsy SPS220
Spastic Paraplegia with Neuropathy and Poikiloderma SPS197
Spastic Paraplegia with Precocious Puberty SPS047
Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome SPS183
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome SPS184
Spastic Paraplegia-Paget Disease of Bone Syndrome SPS188
Spastic Paraplegia, Ataxia, and Mental Retardation SPS226
Spastic Paraplegia, Epilepsy, and Mental Retardation SPS193
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity SPS204
Spastic Paraplegia, Optic Atrophy, and Dementia SPS217
Spastic Paraplegia, Optic Atrophy, and Neuropathy SPS061
Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal SPS224
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy SPS196
Spastic Paresis, Glaucoma, and Mental Retardation SPS194
Spastic Pseudosclerosis SPS221
Spastic Quadriplegia SPS004
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation SPS195
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome SPS186
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome SPS189
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly SPS190
Spasticity SPS057
Spasticity Multiple Exostoses SPS051
Spasticity, Childhood-Onset, with Hyperglycinemia SPS211
Spatial Visualization, Aptitude for SPT020
Specific Antibody Deficiency SPC022
Specific Bursitis Often of Occupational Origin SPC002
Specific Developmental Disorder SPC003
Specific Granule Deficiency 1 SPC026
Specific Granule Deficiency 2 SPC025
Specific Language Impairment SPC019
Specific Language Impairment 1 SPC027
Specific Language Impairment 2 SPC028
Specific Language Impairment 3 SPC029
Specific Language Impairment 4 SPC015
Specific Language Impairment 5 SPC023
Speech and Communication Disorders SPC010
Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease SPC024
Speech Disorder SPC005
Sperm Protamine P4 SPR117
Sperm-Specific Antigen 1 SPR122
Spermatic Cord Cancer SPR014
Spermatocele SPR017
Spermatocytoma SPR018
Spermatogenic Failure 1 SPR118
Spermatogenic Failure 10 SPR082
Spermatogenic Failure 11 SPR081
Spermatogenic Failure 12 SPR087
Spermatogenic Failure 13 SPR096
Spermatogenic Failure 14 SPR095
Spermatogenic Failure 15 SPR116
Spermatogenic Failure 16 SPR111
Spermatogenic Failure 17 SPR110
Spermatogenic Failure 18 SPR113
Spermatogenic Failure 19 SPR115
Spermatogenic Failure 2 SPR084 ASG
Spermatogenic Failure 20 SPR114
Spermatogenic Failure 21 SPR112
Spermatogenic Failure 22 SPR124
Spermatogenic Failure 23 SPR125
Spermatogenic Failure 24 SPR127
Spermatogenic Failure 25 SPR128
Spermatogenic Failure 26 SPR129
Spermatogenic Failure 27 SPR130
Spermatogenic Failure 3 SPR086
Spermatogenic Failure 4 SPR089
Spermatogenic Failure 5 SPR061
Spermatogenic Failure 6 SPR041 SPGF6
Spermatogenic Failure 7 SPR088
Spermatogenic Failure 8 SPR042
Spermatogenic Failure 9 SPR043
Spermatogenic Failure, X-Linked, 1 SPR119
Spermatogenic Failure, X-Linked, 2 SPR091
Spermatogenic Failure, Y-Linked, 1 SPR092
Spermatogenic Failure, Y-Linked, 2 SPR093
Sphenocavernous Meningioma SPH002
Sphenoid Sinus Inverted Papilloma SPH005
Sphenoid Sinus Schneiderian Papilloma SPH004
Sphenoid Sinus Squamous Cell Carcinoma SPH006
Sphenoid Sinusitis SPH007
Sphenoidal Sinus Cancer SPH008
Sphenoorbital Meningioma SPH003
Spherocytosis, Type 1 SPH013
Spherocytosis, Type 2 SPH014
Spherocytosis, Type 3 SPH015
Spherocytosis, Type 4 SPH016
Spherocytosis, Type 5 SPH017
Sphingolipidosis SPH010
Spigelian Hernia-Cryptorchidism Syndrome SPG003
Spina Bifida Aperta SPN237
Spina Bifida Hypospadias SPN082
Spina Bifida Occulta SPN221
Spinal Accessory Nerve Neoplasm SPN001
Spinal and Bulbar Muscular Atrophy, X-Linked 1 SPN404
Spinal Arachnoiditis SPN354
Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome SPN083
Spinal Bulbar Motor Neuropathy SPN084
Spinal Canal and Spinal Cord Meningioma SPN039
Spinal Canal Intradural Extramedullary Neoplasm SPN013
Spinal Cancer SPN040
Spinal Chordoma SPN036
Spinal Cord Astrocytoma SPN018
Spinal Cord Dermoid Cyst SPN003
Spinal Cord Disease SPN041
Spinal Cord Ependymoma SPN042
Spinal Cord Glioma SPN043
Spinal Cord Infarction SPN185
Spinal Cord Injury SPN186
Spinal Cord Intramedullary Teratoma SPN002
Spinal Cord Lipoma SPN004
Spinal Cord Lymphoma SPN026
Spinal Cord Melanoma SPN025
Spinal Cord Neuroblastoma SPN022
Spinal Cord Oligodendroglioma SPN007
Spinal Cord Primitive Neuroectodermal Neoplasm SPN045
Spinal Cord Sarcoma SPN024
Spinal Disease SPN369
Spinal Dysostosis Type Anhalt SPN085
Spinal Dysplasia, Anhalt Type SPN407
Spinal Intradural Arachnoid Cysts SPN086
Spinal Meninges Cancer SPN005
Spinal Meningioma SPN021
Spinal Multifocal Clear Cell Meningioma SPN023
Spinal Muscular Atrophy SPN046
Spinal Muscular Atrophy with Congenital Bone Fractures 2 SPN380
Spinal Muscular Atrophy with Lower Extremity Predominance SPN423
Spinal Muscular Atrophy with Mental Retardation SPN396
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality SPN397
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy SPN252
Spinal Muscular Atrophy with Respiratory Distress Type 2 SPN278
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome SPN341
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 SPN408
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 SPN326
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 SPN355
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 SPN191
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 SPN255
Spinal Muscular Atrophy, Distal, X-Linked 3 SPN188
Spinal Muscular Atrophy, Facioscapulohumeral Type SPN386
Spinal Muscular Atrophy, Jokela Type SPN267
Spinal Muscular Atrophy, Late-Onset, Finkel Type SPN204
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant SPN385
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant SPN416
Spinal Muscular Atrophy, Ryukyuan Type SPN399
Spinal Muscular Atrophy, Segmental SPN387
Spinal Muscular Atrophy, Type I SPN393
Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures SPN400
Spinal Muscular Atrophy, Type Ii SPN395
Spinal Muscular Atrophy, Type Iii SPN394
Spinal Muscular Atrophy, Type Iv SPN398
Spinal Muscular Atrophy, X-Linked 2 SPN402
Spinal Polio SPN015
Spinal Shock SPN092
Spinal Stenosis SPN027
Spindle Cell Carcinoma SPN032
Spindle Cell Hemangioma SPN012
Spindle Cell Lipoma SPN006
Spindle Cell Liposarcoma SPN017
Spindle Cell Rhabdomyosarcoma SPN009
Spindle Cell Sarcoma SPN035
Spindle Cell Synovial Sarcoma SPN034
Spindle Cell Thymoma SPN048
Spindle Cell Variant Squamous Cell Breast Carcinoma SPN037
Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor SPN279
Spine Rigid Cardiomyopathy SPN093
Spinocerebellar Ataxia 1 SPN294
Spinocerebellar Ataxia 10 SPN314
Spinocerebellar Ataxia 11 SPN305
Spinocerebellar Ataxia 12 SPN293
Spinocerebellar Ataxia 13 SPN311
Spinocerebellar Ataxia 14 SPN312
Spinocerebellar Ataxia 15 SPN290
Spinocerebellar Ataxia 17 SPN296
Spinocerebellar Ataxia 18 SPN094
Spinocerebellar Ataxia 19 SPN095
Spinocerebellar Ataxia 2 SPN301
Spinocerebellar Ataxia 20 SPN299
Spinocerebellar Ataxia 21 SPN096
Spinocerebellar Ataxia 23 SPN097
Spinocerebellar Ataxia 25 SPN098
Spinocerebellar Ataxia 26 SPN099
Spinocerebellar Ataxia 27 SPN100
Spinocerebellar Ataxia 28 SPN308
Spinocerebellar Ataxia 29 SPN101 SCA29
Spinocerebellar Ataxia 30 SPN102
Spinocerebellar Ataxia 31 SPN103 SCA31
Spinocerebellar Ataxia 32 SPN259
Spinocerebellar Ataxia 34 SPN104
Spinocerebellar Ataxia 35 SPN266
Spinocerebellar Ataxia 36 SPN265
Spinocerebellar Ataxia 37 SPN283
Spinocerebellar Ataxia 38 SPN284
Spinocerebellar Ataxia 4 SPN105
Spinocerebellar Ataxia 40 SPN286
Spinocerebellar Ataxia 41 SPN323
Spinocerebellar Ataxia 42 SPN383
Spinocerebellar Ataxia 43 SPN372
Spinocerebellar Ataxia 44 SPN418
Spinocerebellar Ataxia 45 SPN419
Spinocerebellar Ataxia 46 SPN420
Spinocerebellar Ataxia 47 SPN421
Spinocerebellar Ataxia 5 SPN106
Spinocerebellar Ataxia 6 SPN309
Spinocerebellar Ataxia 7 SPN291
Spinocerebellar Ataxia 8 SPN304
Spinocerebellar Ataxia 9 SPN107
Spinocerebellar Ataxia Autosomal Recessive 5 SPN111
Spinocerebellar Ataxia Type 1 with Axonal Neuropathy SPN335
Spinocerebellar Ataxia Type 16 SPN336
Spinocerebellar Ataxia Type 19/22 SPN247
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 SPN366
Spinocerebellar Ataxia with Dysmorphism SPN113
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy SPN388
Spinocerebellar Ataxia, Autosomal Recessive 1 SPN327
Spinocerebellar Ataxia, Autosomal Recessive 10 SPN214
Spinocerebellar Ataxia, Autosomal Recessive 11 SPN254
Spinocerebellar Ataxia, Autosomal Recessive 12 SPN264
Spinocerebellar Ataxia, Autosomal Recessive 13 SPN258
Spinocerebellar Ataxia, Autosomal Recessive 14 SPN261
Spinocerebellar Ataxia, Autosomal Recessive 15 SPN272
Spinocerebellar Ataxia, Autosomal Recessive 16 SPN273
Spinocerebellar Ataxia, Autosomal Recessive 17 SPN298
Spinocerebellar Ataxia, Autosomal Recessive 18 SPN292
Spinocerebellar Ataxia, Autosomal Recessive 2 SPN200
Spinocerebellar Ataxia, Autosomal Recessive 20 SPN325
Spinocerebellar Ataxia, Autosomal Recessive 21 SPN381
Spinocerebellar Ataxia, Autosomal Recessive 22 SPN375
Spinocerebellar Ataxia, Autosomal Recessive 23 SPN377
Spinocerebellar Ataxia, Autosomal Recessive 24 SPN376
Spinocerebellar Ataxia, Autosomal Recessive 25 SPN378
Spinocerebellar Ataxia, Autosomal Recessive 26 SPN384
Spinocerebellar Ataxia, Autosomal Recessive 3 SPN295
Spinocerebellar Ataxia, Autosomal Recessive 4 SPN288
Spinocerebellar Ataxia, Autosomal Recessive 6 SPN313
Spinocerebellar Ataxia, Autosomal Recessive 7 SPN201
Spinocerebellar Ataxia, Autosomal Recessive 8 SPN207
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy SPN410
Spinocerebellar Ataxia, X-Linked 1 SPN202
Spinocerebellar Ataxia, X-Linked 2 SPN403
Spinocerebellar Ataxia, X-Linked 3 SPN364
Spinocerebellar Ataxia, X-Linked 4 SPN363
Spinocerebellar Ataxia, X-Linked 5 SPN203
Spinocerebellar Atrophy SPN187
Spinocerebellar Atrophy with Pupillary Paralysis SPN389
Spinocerebellar Degeneration SPN050
Spinocerebellar Degeneration and Corneal Dystrophy SPN117
Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia SPN356
Spinocerebellar Degenerescence Book Type SPN118
Spiradenoma SPR013
Spirillary Rat-Bite Fever SPR080
Spirochetes Disease SPR028
Spirurida Infections SPR029
Spitz Nevus SPT007
Spleen Angiosarcoma SPL001
Spleen Cancer SPL011
Splenic Abscess SPL007
Splenic Artery Aneurysm SPL005
Splenic Diffuse Red Pulp Small B-Cell Lymphoma SPL060
Splenic Disease SPL012
Splenic Flexure Cancer SPL003
Splenic Infarction SPL006
Splenic Manifestation of Hairy Cell Leukemia SPL010
Splenic Manifestation of Leukemia SPL013
Splenic Manifestation of Prolymphocytic Leukemia SPL002
Splenic Marginal Zone Lymphoma SPL004
Splenic Sequestration SPL009
Splenic Tuberculosis SPL008
Splenogonadal Fusion Limb Defects Micrognatia SPL017
Splenogonadal Fusion with Limb Defects and Micrognathia SPL054
Splenomegaly SPL018
Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells SPL064
Splenomegaly, Cytopenia, and Vision Loss SPL058
Splenoportal Vascular Anomalies SPL069
Split Hand Split Foot Malformation Autosomal Recessive SPL020
Split Hand Split Foot Nystagmus SPL021
Split Hand Urinary Anomalies Spina Bifida SPL022
Split Hand-Foot Malformation SPL061
Split Hand/foot Malformation X-Linked SPL023
Split Lower Lip SPL065
Split Spinal Cord Malformation SPL051
Split-Foot Deformity with Mandibulofacial Dysostosis SPL056
Split-Foot Malformation with Mesoaxial Polydactyly SPL059
Split-Hand and Split-Foot with Hypodontia SPL066
Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts SPL055
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects SPL057
Split-Hand/foot Malformation 1 SPL067
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive SPL068
Split-Hand/foot Malformation 2 SPL070
Split-Hand/foot Malformation 3 SPL024
Split-Hand/foot Malformation 4 SPL034
Split-Hand/foot Malformation 5 SPL025
Split-Hand/foot Malformation 6 SPL033
Split-Hand/foot Malformation with Long Bone Deficiency 1 SPL027 SHFLD
Split-Hand/foot Malformation with Long Bone Deficiency 2 SPL047
Spondylarthropathy SPN119
Spondylitis SPN051
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia SPN208
Spondyloarthropathy SPN052
Spondyloarthropathy 1 SPN225 SPDA1
Spondyloarthropathy 2 SPN226
Spondyloarthropathy 3 SPN256
Spondylocamptodactyly SPN120
Spondylocarpotarsal Synostosis Syndrome SPN060
Spondylocostal Dysostosis 1 SPN121
Spondylocostal Dysostosis 1, Autosomal Recessive SPN310
Spondylocostal Dysostosis 2 SPN122
Spondylocostal Dysostosis 2, Autosomal Recessive SPN307
Spondylocostal Dysostosis 3 SPN123
Spondylocostal Dysostosis 3, Autosomal Recessive SPN297
Spondylocostal Dysostosis 4 SPN124
Spondylocostal Dysostosis 4, Autosomal Recessive SPN215
Spondylocostal Dysostosis 5 SPN330 SCDO5
Spondylocostal Dysostosis 6, Autosomal Recessive SPN417
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies SPN365
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome SPN339
Spondylocostal Dysostosis, Autosomal Recessive SPN081
Spondylodysplastic Ehlers-Danlos Syndrome SPN370
Spondyloenchondrodysplasia SPN125
Spondyloenchondrodysplasia with Immune Dysregulation SPN251
Spondyloepimetaphyseal Dysplasia Joint Laxity SPN127
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition SPN351
Spondyloepimetaphyseal Dysplasia with Hypotrichosis SPN132
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures SPN253
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 SPN263
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations SPN133
Spondyloepimetaphyseal Dysplasia, Aggrecan Type SPN136
Spondyloepimetaphyseal Dysplasia, Di Rocco Type SPN422
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type SPN368
Spondyloepimetaphyseal Dysplasia, Genevieve Type SPN352
Spondyloepimetaphyseal Dysplasia, Irapa Type SPN243
Spondyloepimetaphyseal Dysplasia, Isidor Type SPN268
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related SPN411
Spondyloepimetaphyseal Dysplasia, Micromelic SPN357
Spondyloepimetaphyseal Dysplasia, Missouri Type SPN030
Spondyloepimetaphyseal Dysplasia, Shohat Type SPN359
Spondyloepimetaphyseal Dysplasia, Sponastrime Type SPN248
Spondyloepimetaphyseal Dysplasia, Strudwick Type SPN028
Spondyloepimetaphyseal Dysplasia, X-Linked SPN358
Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration SPN350
Spondyloepiphyseal Dysplasia Congenita SPN008
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies SPN406
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation SPN347
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant SPN300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive SPN401
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type SPN412
Spondyloepiphyseal Dysplasia Tarda, X-Linked SPN405
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability SPN346
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations SPN209
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation SPN344
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy SPN390
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech SPN141
Spondyloepiphyseal Dysplasia, Kimberley Type SPN189
Spondyloepiphyseal Dysplasia, Maroteaux Type SPN391
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness SPN345
Spondyloepiphyseal Dysplasia, Stanescu Type SPN328
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium SPN142
Spondylolisthesis SPN019
Spondylolysis SPN029
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness SPN413
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type SPN289
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism SPN150
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy SPN151
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta SPN152
Spondylometaphyseal Dysplasia, Algerian Type SPN361
Spondylometaphyseal Dysplasia, Axial SPN348
Spondylometaphyseal Dysplasia, Corner Fracture Type SPN360
Spondylometaphyseal Dysplasia, Czarny-Ratajczak Type SPN269
Spondylometaphyseal Dysplasia, East African Type SPN414
Spondylometaphyseal Dysplasia, Kozlowski Type SPN302
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type SPN415
Spondylometaphyseal Dysplasia, Sedaghatian Type SPN362
Spondylometaphyseal Dysplasia, Type A4 SPN349
Spondylometaphyseal Dysplasia, X-Linked SPN353
Spondyloocular Syndrome SPN331
Spondyloperipheral Dysplasia SPN154
Spondylosis SPN020
Spondylosis, Cervical SPN392
Spondylospinal Thoracic Dysostosis SPN155
Spongiform Encephalopathy with Neuropsychiatric Features SPN409
Spongiotic Dermatitis SPN011
Spontaneous Intracranial Hypotension SPN340
Spontaneous Ocular Nystagmus SPN033
Spontaneous Tension Pneumothorax SPN014
Sporadic Adult-Onset Ataxia of Unknown Etiology SPR067
Sporadic Breast Cancer SPR009
Sporadic Fetal Brain Disruption Sequence SPR105
Sporadic Hemiplegic Migraine SPR083
Sporadic Hyperekplexia SPR097
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy SPR078
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation SPR073
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis SPR075
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis SPR076
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes SPR074
Sporadic Infantile Bilateral Striatal Necrosis SPR070
Sporadic Pheochromocytoma SPR094
Sporadic Secreting Paraganglioma SPR069
Sporotrichosis SPR010
Spotted Fever SPT005
Spranger Schinzel Myers Syndrome SPR030
Sprengel Deformity SPR031
Squamous Blepharitis SQM003
Squamous Cell Carcinoma SQM006
Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract SQM016
Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract SQM017
Squamous Cell Carcinoma of the Corpus Uteri SQM012
Squamous Cell Carcinoma of the Oral Tongue SQM018
Squamous Cell Carcinoma of the Pancreas SQM020
Squamous Cell Carcinoma of the Small Intestine SQM019
Squamous Cell Carcinoma, Head and Neck SQM013
Squamous Cell Papilloma SQM002
Squamous Cell Papilloma of Skin SQM001
Squamous Papillomatosis SQM005
Ssr4-Cdg SSR001
St Anthony's Fire STN005
St. Louis Encephalitis STL001
Stable Condition Keratoconus STB001
Stachybotrys Chartarum STC004
Stalker Chitayat Syndrome STL002
Stampe Sorensen Syndrome STM010
Stankiewicz-Isidor Syndrome STN014
Stapes Ankylosis with Broad Thumbs and Toes STP011
Staphylococcal Necrotizing Pneumonia STP010
Staphylococcal Scarlet Fever STP007
Staphylococcal Toxic Shock Syndrome STP004
Staphyloenterotoxemia STP002
Staphyloma Posticum STP001
Stargardt Disease STR022
Stargardt Disease 1 STR084
Stargardt Disease 3 STR040
Stargardt Disease 4 STR054
Stargardt Macular Degeneration STR046
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Features STR102
Startle Epilepsy STR070
Statin Toxicity STT044
Stature As a Quantitative Trait STT048
Stature Quantitative Trait Locus 10 STT056
Stature Quantitative Trait Locus 11 STT057
Stature Quantitative Trait Locus 12 STT058
Stature Quantitative Trait Locus 13 STT059
Stature Quantitative Trait Locus 14 STT060
Stature Quantitative Trait Locus 15 STT061
Stature Quantitative Trait Locus 16 STT062
Stature Quantitative Trait Locus 17 STT063
Stature Quantitative Trait Locus 18 STT064
Stature Quantitative Trait Locus 19 STT065
Stature Quantitative Trait Locus 2 STT049
Stature Quantitative Trait Locus 20 STT066
Stature Quantitative Trait Locus 21 STT067
Stature Quantitative Trait Locus 22 STT068
Stature Quantitative Trait Locus 23 STT069
Stature Quantitative Trait Locus 24 STT070
Stature Quantitative Trait Locus 3 STT050
Stature Quantitative Trait Locus 4 STT051
Stature Quantitative Trait Locus 5 STT052
Stature Quantitative Trait Locus 6 STT046
Stature Quantitative Trait Locus 7 STT053
Stature Quantitative Trait Locus 8 STT054
Stature Quantitative Trait Locus 9 STT055
Status Asthmaticus STT002
Status Epilepticus STT001
Steatitis STT003
Steatocystoma Multiplex STT007
Steatocystoma Multiplex with Natal Teeth STT008
Steatorrhea STT004
Steel Syndrome STL007
Steinfeld Syndrome STN006
Stenosis of Lacrimal Passage STN003
Stenosis of Lacrimal Punctum STN002
Stenosis of Lacrimal Sac STN001
Stenosis or Atresia of the Coronary Ostium STN015
Stenotrophomonas Maltophilia Infection STN013
Stereotypic Movement Disorder STR015
Sterility Due to Immotile Flagella STR028
Sternal Cleft STR029
Sternal Cyst Vascular Anomalies STR030
Sternal Malformation Vascular Dysplasia Associatio STR031
Sternum Cancer STR017
Sternum Lymphoma STR014
Sternum, Premature Obliteration of Sutures of STR097
Steroid Dehydrogenase Deficiency Dental Anomalies STR032
Steroid Inherited Metabolic Disorder STR018
Steroid Lipomatosis STR010
Steroid-Induced Glaucoma STR019
Steroid-Induced Glaucoma - Borderline STR016
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome STV009
Stevenson-Carey Syndrome STV008
Stickler Syndrome STC001
Stickler Syndrome, Type 3 STC007
Stickler Syndrome, Type I STC015 STL1
Stickler Syndrome, Type I, Nonsyndromic Ocular STC017
Stickler Syndrome, Type Ii STC013
Stickler Syndrome, Type Iv STC012
Stickler Syndrome, Type V STC011
Sticky Platelet Syndrome STC016
Stiff Skin Syndrome STF002
Stiff-Person Syndrome STF001
Sting-Associated Vasculopathy with Onset in Infancy STN011
Sting-Associated Vasculopathy, Infantile-Onset STN012
Stocco Dos Santos Syndrome STC008
Stocco Dos Santos X-Linked Mental Retardation Syndrome STC002
Stoelinga De Koomen Davis Syndrome STL003
Stoll Alembik Finck Syndrome STL004
Stomach Cancer, Childhood STM011
Stomach Carcinoma in Situ STM003
Stomach Disease STM006
Stomach Diverticulosis STM002
Stomatin-Deficient Cryohydrocytosis with Neurologic Defects STM015
Stomatin-Like Protein-2, Hyperphosphorylation of STM016
Stomatitis STM007
Stomatocytosis I STM009
Stomatocytosis Ii STM013
Stone in Bladder Diverticulum STN004
Storage Pool Platelet Disease STR089
Stork Bite STR005
Storm Syndrome STR033
Stormorken Syndrome STR081
Strabismus STR020
Straddling and/or Overriding Mitral Valve STR076
Straddling or Overriding Tricuspid Valve STR075
Stratton-Parker Syndrome STR088
Strawberry Gallbladder STR003
Streptococcal Group a Invasive Disease STR035
Streptococcal Group B Invasive Disease STR036
Streptococcal Meningitis STR002
Streptococcal Toxic-Shock Syndrome STR077
Streptococcus, Group a, Severity of Infection by STR100
Stress Polycythemia STR007
Striae Distensae, Familial STR098
Striatal Degeneration, Autosomal Dominant 1 STR101
Striatal Degeneration, Autosomal Dominant 2 STR092
Striate Palmoplantar Keratoderma STR096
Striated Muscle Rhabdoid Tumor STR082
Striatonigral Degeneration STR001
Striatonigral Degeneration, Childhood-Onset STR093
Striatonigral Degeneration, Infantile STR085
Striatonigral Degeneration, Infantile, Mitochondrial STR099
Strictly Posterior Acute Myocardial Infarction STR011
Stricture or Kinking of Ureter STR004
Stroke, Ischemic STR067
Stroma-Dominant and Stroma-Poor Composite Ganglioneuroblastoma STR013
Stromal Corneal Pigmentation STR006
Stromal Dystrophy STR086
Stromal Keratitis STR072
Stromal Predominant Kidney Wilms' Tumor STR009
Stromme Syndrome STR094
Strongyloidiasis STR008
Struma Ovarii STR021
Stt3a-Cdg and Stt3b-Cdg STT042
Sturge-Weber Syndrome STR039
Stuttering STT041
Stuttering, Familial Persistent, 3 STT036
Stuttering, Familial Persistent, 4 STT039
Stuve-Wiedemann Syndrome STV003
Stxbp1 Encephalopathy with Epilepsy STX004
Sub-Cortical Nodular Heterotopia SBC038
Subacute Bacterial Endocarditis SBC003
Subacute Cerebellar Degeneration SBC039
Subacute Cutaneous Lupus Erythematosus SBC035
Subacute Delirium SBC016
Subacute Glomerulonephritis SBC010
Subacute Inflammatory Demyelinating Polyneuropathy SBC037
Subacute Leukemia SBC006
Subacute Lymphocytic Thyroiditis SBC005
Subacute Monocytic Leukemia SBC015
Subacute Thyroiditis SBC007
Subaortic Course of Innominate Vein SBR010
Subaortic Stenosis--Short Stature Syndrome SBR011
Subaortic Stenosis, Membranous SBR012
Subareolar Duct Papillomatosis SBR003
Subclavian Artery Aneurysm SBC002
Subclavian Steal Syndrome SBC014
Subcorneal Pustular Dermatosis SBC012
Subcortical Arteriosclerotic Encephalopathy SBC025
Subcutaneous Mycosis SBC019
Subcutaneous Panniculitis-Like T-Cell Lymphoma SBC024
Subdural Empyema SBD001
Subendocardial Infarction Acute Myocardial Infarction SBN002
Subendocardial Myocardial Infarction SBN001
Subependymal Giant Cell Astrocytoma SBP001
Subependymal Glioma SBP002
Subependymal Nodular Heterotopia SBP003
Subependymoma SBP004
Subglottic Angioma SBG002
Subglottis Neoplasm SBG001
Subglottis Squamous Cell Carcinoma SBG004
Subglottis Verrucous Carcinoma SBG003
Subleukemic Leukemia SBL003
Sublingual Gland Adenoid Cystic Carcinoma SBL007
Sublingual Gland Cancer SBL001
Submandibular Adenitis SBM002
Submandibular Gland Cancer SBM004
Submandibular Gland Disease SBM003
Submucosal Cleft Palate SBM006
Submucosal Invasive Colon Adenocarcinoma SBM001
Submucous Uterine Fibroid SBM005
Subpulmonary Stenosis SBP005
Subserous Uterine Fibroid SBS001
Substance Abuse SBS003
Substance Dependence SBS004
Substance-Induced Psychosis SBS005
Substernal Goiter SBS002
Subungual Glomus Tumor SBN003
Subvalvular Aortic Stenosis SBV001
Succinate-Coa Ligase Deficiency SCC007
Succinic Acidemia SCC003
Succinic Acidemia Lactic Acidosis Congenital SCC004
Succinic Semialdehyde Dehydrogenase Deficiency SCC001
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency SCC011
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria SCL054
Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria SCL055
Sucrase-Isomaltase Deficiency, Congenital SCR037
Sucrosuria, Hiatus Hernia and Mental Retardation SCR041
Sudanophilic Cerebral Sclerosis SDN002
Sudden Arrhythmia Death Syndrome SDD004
Sudden Cardiac Failure, Alcohol-Induced SDD010
Sudden Cardiac Failure, Infantile SDD009
Sudden Infant Death Syndrome SDD001
Sudden Infant Death with Dysgenesis of the Testes Syndrome SDD002
Sudden Sensorineural Hearing Loss SDD008
Sugarman Brachydactyly SGR001
Sulfhemoglobinemia SLF001
Sulfhemoglobinemia, Congenital SLF013
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency SLF012
Sulfite Oxidase Deficiency, Isolated SLF014
Summitt Syndrome SMM003
Sunct Headache SNC001
Superficial Basal Cell Carcinoma SPR005
Superficial Keratitis SPR019
Superficial Mycosis SPR020
Superficial Siderosis SPR066
Superficial Siderosis of the Central Nervous System SPR032
Superficial Spreading Melanoma SPR033
Superficial Urinary Bladder Cancer SPR001
Superior Limbic Keratoconjunctivitis SPR034
Superior Mesenteric Artery Syndrome SPR007
Superior Semicircular Canal Dehiscence SPR126
Superior Transverse Scapular Ligament, Calcification of, Familial SPR121
Superior Vena Cava Angiosarcoma SPR002
Superior Vena Cava Leiomyosarcoma SPR003
Supernumerary Breasts SPR064
Supernumerary Der(22)t(8 SPR123
Supernumerary Nostril SPR065
Supine Hypotensive Syndrome SPN031
Suppression Amblyopia SPP007
Suppression of Tumorigenicity 12 SPP011
Suppressor of Tumorigenicity 3 SPP010
Suppurative Cholangitis SPP004
Suppurative Lymphadenitis SPP001
Suppurative Otitis Media SPP008
Suppurative Periapical Periodontitis SPP003
Suppurative Thyroiditis SPP005
Suppurative Uveitis SPP006
Suprabulbar Paresis, Congenital SPR108
Supraglottic Laryngeal Cancer SPR037
Supraglottis Cancer SPR021
Supraglottis Squamous Cell Carcinoma SPR023
Supraglottis Verrucous Carcinoma SPR015
Supranuclear Ocular Palsy SPR038
Supranuclear Palsy, Progressive, 1 SPR120
Supranuclear Palsy, Progressive, 2 SPR049
Supranuclear Palsy, Progressive, 3 SPR048
Suprasellar Meningioma SPR011
Supratentorial Cancer SPR024
Supratentorial Primitive Neuroectodermal Tumor SPR008
Supratentorial Primitive Neuroectodermal Tumors, Childhood SPR039
Supratip Dysplasia SPR109
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas SPR040
Supravalvular Aortic Stenosis SPR004
Surface Antigen, Glycoprotein 75 SRF010
Surface Polypeptides, Anonymous SRF011
Surfactant Dysfunction SRF006
Surfactant Metabolism Dysfunction, Pulmonary, 1 SRF004
Surfactant Metabolism Dysfunction, Pulmonary, 2 SRF003
Surfactant Metabolism Dysfunction, Pulmonary, 3 SRF005
Surfactant Metabolism Dysfunction, Pulmonary, 4 SRF008
Surfactant Metabolism Dysfunction, Pulmonary, 5 SRF007
Survival Motor Neuron Spinal Muscular Atrophy SRV001
Susac Syndrome SSC001
Susceptibility to Adverse Reaction Due to Mercaptopurine SSC046
Susceptibility to Localized Juvenile Periodontitis SSC054
Susceptibility/resistance to Hiv Infection SSC050
Sutton Disease 2 STT009
Sveinsson Chorioretinal Atrophy SVN002 SCRA
Swallowing Disorders SWL001
Swayback SWY001
Sweat Gland Cancer SWT002
Sweat Gland Disease SWT003
Sweeney-Cox Syndrome SWN003
Swine Influenza SWN001
Swyer-James Syndrome SWY003
Sydenham Chorea SYD002
Symbrachydactyly of Hands and Feet SYM014
Symmastia SYM005
Symmetrical Thalamic Calcifications SYM006
Sympathetic Neurilemmoma SYM001
Sympathetic Ophthalmia SYM002
Symphalangism Brachydactyly Craniosynostosis SYM007
Symphalangism of Toes SYM027
Symphalangism Short Stature Accessory Testis SYM010
Symphalangism with Multiple Anomalies of Hands and Feet SYM011
Symphalangism, C. S. Lewis Type SYM028
Symphalangism, Distal SYM024
Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch SYM012
Symphalangism, Proximal, 1a SYM022
Symphalangism, Proximal, 1b SYM019
Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers SYM015
Symptomatic Form of Hemophilia a in Female Carriers SYM020
Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers SYM016
Syncamptodactyly Scoliosis SYN014
Synchronous Bilateral Breast Carcinoma SYN003
Synchronous Multifocal Osteogenic Sarcoma SYN002
Syncope SYN036
Syncope, Familial Vasovagal SYN062
Syndactyly Ectodermal Dysplasia Cleft Lip Palate Hand Foot SYN017
Syndactyly Type 6 SYN050
Syndactyly-Polydactyly-Earlobe Syndrome SYN025
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction SYN063
Syndactyly, Type Iii SYN060
Syndactyly, Type Iv SYN061
Syndactyly, Type V SYN059
Syndesmodysplasic Dwarfism SYN026
Syndrome of Inappropriate Antidiuretic Hormone SYN046
Syndromic Intellectual Disability SYN057
Syndromic X-Linked Intellectual Disability SYN064
Syndromic X-Linked Intellectual Disability 12 SYN077
Syndromic X-Linked Intellectual Disability 14 SYN082
Syndromic X-Linked Intellectual Disability 7 SYN056
Syndromic X-Linked Intellectual Disability Abidi Type SYN081
Syndromic X-Linked Intellectual Disability Cabezas Type SYN092
Syndromic X-Linked Intellectual Disability Nascimento Type SYN091
Syndromic X-Linked Intellectual Disability Raymond Type SYN093
Syndromic X-Linked Intellectual Disability Shashi Type SYN083
Syndromic X-Linked Intellectual Disability Siderius Type SYN079
Syndromic X-Linked Intellectual Disability Snyder Type SYN089
Syndromic X-Linked Intellectual Disability Turner Type SYN090
Syndromic X-Linked Intellectual Disability Type 10 SYN078
Syndromic X-Linked Mental Retardation Hough Type SYN094
Syne1-Related Autosomal Recessive Cerebellar Ataxia SYN013
Synesthesia SYN041
Syngap1-Related Intellectual Disability SYN073
Syngap1-Related Non-Syndromic Intellectual Disability SYN070
Syngnathia SYN075
Syngnathia Cleft Palate SYN027
Syngnathia Multiple Anomalies SYN028
Synostoses, Tarsal, Carpal, and Digital SYN086
Synostosis SYN005
Synostosis of Talus and Calcaneus Short Stature SYN029
Synovial Angioma SYN004
Synovial Chondromatosis SYN031
Synovial Chondromatosis, Familial, with Dwarfism SYN087
Synovitis SYN007
Synovium Cancer SYN008
Synpolydactyly SYN012
Synpolydactyly 1 SYN084
Synpolydactyly 2 SYN088
Synpolydactyly 3 SYN040
Synucleinopathy SYN058
Syphilis SYP003
Syphilitic Aseptic Meningitis SYP004
Syphilitic Encephalitis SYP002
Syphilitic Meningitis SYP001
Syphilitic Myelopathy SYP005
Syphilitic Spinal Sclerosis SYP007
Syringobulbia SYR004
Syringocystadenoma Papilliferum SYR002
Syringohydromyelia SYR007
Syringoma SYR003
Syringomas Natal Teeth Oligodontia SYR005
Syringomas, Multiple SYR009
Syringomelia Hyperkeratosis SYR006
Syringomyelia SYR001
Syringomyelia, Noncommunicating Isolated SYR010
Systemic Capillary Leak Syndrome SYS007
Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood SYS063
Systemic Lupus Erythematosus SYS001
Systemic Lupus Erythematosus 1 SYS043
Systemic Lupus Erythematosus 10 SYS040
Systemic Lupus Erythematosus 11 SYS065
Systemic Lupus Erythematosus 12 SYS055
Systemic Lupus Erythematosus 13 SYS052
Systemic Lupus Erythematosus 14 SYS045
Systemic Lupus Erythematosus 15 SYS067
Systemic Lupus Erythematosus 16 SYS061
Systemic Lupus Erythematosus 2 SYS038
Systemic Lupus Erythematosus 3 SYS046
Systemic Lupus Erythematosus 4 SYS051
Systemic Lupus Erythematosus 5 SYS053
Systemic Lupus Erythematosus 6 SYS069
Systemic Lupus Erythematosus 7 SYS047
Systemic Lupus Erythematosus 8 SYS048
Systemic Lupus Erythematosus 9 SYS041
Systemic Lupus Erythematosus with Hemolytic Anemia 1 SYS068
Systemic Lupus Erythematosus with Nephritis 1 SYS056
Systemic Lupus Erythematosus with Nephritis 2 SYS050
Systemic Lupus Erythematosus with Nephritis 3 SYS054
Systemic Mastocytosis SYS004
Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease SYS059
Systemic Monochloroacetate Poisoning SYS058
Systemic Necrotizing Angitis SYS008
Systemic Onset Juvenile Idiopathic Arthritis SYS034
Systemic Polyarteritis Nodosa SYS066
Systemic Scleroderma SYS005
Systolic Heart Failure SYS003
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