Disease Name Symbol Acronym
Saccharopinuria SCC002
Sacral Agenesis with Vertebral Anomalies SCR035
Sacrococcygeal Teratoma SCR024
Saddan SDD003
Saethre-Chotzen Syndrome STH001
Saethre-Chotzen Syndrome, Fgfr2-Related STH004
Sag-Related Retinitis Pigmentosa SGR002
Sagittal Sinus Thrombosis SGT001
Sagliker Syndrome SGL002
Sakati Syndrome SKT001
Salih Myopathy SLH001
Salivary Gland Adenoid Cystic Carcinoma SLV012
Salivary Gland Cancer SLV002
Salivary Gland Disease SLV003
Sall4-Related Disorders SLL004
Salla Disease SLL003
Salpingitis SLP003
Salpingitis Isthmica Nodosa SLP002
Salpingo-Oophoritis SLP004
Sandhoff Disease, Infantile, Juvenile, and Adult Forms SND007
Sapho Syndrome SPH001
Sarcocystosis SRC011
Sarcoglycanopathies SRC016
Sarcoidosis 1 SRC025
Sarcoidosis 2 SRC023
Sarcoidosis 3 SRC024
Sarcoidosis, Early-Onset SRC026
Sarcoidosis, Susceptibility 2 SRC028
Sarcoma SRC014
Sarcoma, Synovial SRC027
Sarcomatoid Basal Cell Carcinoma SRC003
Sarcomatoid Mesothelioma SRC001
Sarcomatoid Renal Cell Carcinoma SRC002
Sarcomatoid Squamous Cell Skin Carcinoma SRC008
Sarcomatoid Transitional Cell Carcinoma SRC007
Sarcomatosis SRC009
Sarcosinemia SRC015
Say Syndrome SYS006
Say-Barber-Biesecker Variant of Ohdo Syndrome SYB002
Sbbyss Syndrome SBB001
Sc Phocomelia Syndrome SCP001
Scabies SCB001
Scalp Dermatosis SCL001
Scalp-Ear-Nipple Syndrome SCL046
Scaphocephaly, Maxillary Retrusion, and Mental Retardation SCP007
Scapuloperoneal Myopathy SCP010
Scapuloperoneal Myopathy, X-Linked Dominant SCP009
Scapuloperoneal Spinal Muscular Atrophy SCP002
Scapuloperoneal Syndrome, Myopathic Type SCP008
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type SCP005
Scar Contracture SCR033
Scarlet Fever SCR015
Scedosporiosis SCD003
Schaaf-Yang Syndrome SCH071
Scheuermann Disease SCH072
Schimke Immunoosseous Dysplasia SCH016
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic SCH063
Schindler Disease SCH017
Schindler Disease, Type I SCH069
Schinzel Giedion Syndrome SCH024
Schinzel-Giedion Midface Retraction Syndrome SCH037
Schistosoma Mansoni Infection, Susceptibility/ SCH060
Schistosomiasis SCH014
Schizencephaly SCH018
Schizoid Personality Disorder SCH004
Schizophrenia SCH015
Schizophrenia 10 SCH064
Schizophrenia 15 SCH056
Schizophrenia 16 SCH061
Schizophrenia 17 SCH059
Schizophrenia 4 SCH051
Schizophrenia Susceptibility 18 SCH062
Schizophreniform Disorder SCH003
Schizotypal Personality Disorder SCH011
Schneckenbecken Dysplasia SCH030
Schneiderian Carcinoma SCH010
Schnitzler Syndrome SCH002
Schopf-Schulz-Passarge Syndrome SCH038
Schwannoma of Twelfth Cranial Nerve SCH001
Schwannomatosis SCH070
Schwannomatosis-2 SCH067
Schwartz-Jampel Syndrome, Type 1 SCH068
Sciatic Neuropathy SCT001
Scid, Autosomal Recessive, T-Negative/b-Positive Type SCD002
Scleral Disease SCL013
Scleral Staphyloma SCL014
Scleredema Adultorum SCL002
Scleritis SCL015
Sclerocornea SCL047
Scleromalacia Perforans SCL008
Scleromyxedema SCL025
Sclerosing Cholangitis SCL009
Sclerosing Hemangioma SCL017
Sclerosing Hepatic Carcinoma SCL007
Sclerosing Keratitis SCL011
Sclerosing Liposarcoma SCL004
Sclerosing Perineurioma SCL041
Sclerosteosis SCL048
Sclerosteosis 1 SCL045
Sclerosteosis 2 SCL042
Scn1a- Related Generalized Epilepsy with Febrile Seizures Plus SCN011
Scn1a-Related Seizure Disorders SCN009
Scn1b-Related Cardiac Conduction Defect, Nonspecific SCN017
Scn1b-Related Familial Atrial Fibrillation SCN056
Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus SCN018
Scn2b-Related Familial Atrial Fibrillation SCN054
Scn3b-Related Familial Atrial Fibrillation SCN057
Scn4a-Related Congenital Myasthenic Syndrome SCN019
Scn5a-Associated Dilated Cardiomyopathy SCN020
Scn5a-Related Brugada Syndrome SCN021
Scn5a-Related Dilated Cardiomyopathy SCN022
Scn5a-Related Disorders SCN023
Scn5a-Related Familial Atrial Fibrillation SCN058
Scn5a-Related Romano Ward Syndrome SCN024
Scn8a Encephalopathy SCN061
Scn8a-Related Epilepsy with Encephalopathy SCN060
Scn9a-Related Dravet Syndrome SCN025
Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus SCN026
Scn9a-Related Inherited Erythromelalgia SCN010
Scoliosis SCL018
Scoliosis, Isolated 3 SCL049
Scorpion Envenomation SCR039
Scotoma SCT002
Scott Syndrome SCT005
Scrapie SCR011
Scrotal Carcinoma SCR016
Scrotum Paget's Disease SCR005
Scrub Typhus SCR008
Scurvy SCR002
Sdccag8-Related Bardet-Biedl Syndrome SDC001
Sdha-Related Dilated Cardiomyopathy SDH010
Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDH002
Sdhb-Related Paraganglioma and Gastric Stromal Sarcoma SDH004
Sdhc-Related Paraganglioma and Gastric Stromal Sarcoma SDH006
Sdhd-Related Paraganglioma and Gastric Stromal Sarcoma SDH008
Sea-Blue Histiocyte Disease SBL008
Sebaceous Adenocarcinoma SBC011
Sebaceous Adenoma SBC009
Sebaceous Gland Disease SBC017
Sebastian Syndrome SBS006
Seborrhea-Like Dermatitis with Psoriasiform Elements SBR007
Seborrheic Dermatitis SBR004
Seckel Syndrome 1 SCK009
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-Degree Atrioventricular Block SCN049
Secondary Adrenal Insufficiency SCN052
Secondary Ciliary Dyskinesia SCN044
Secondary Corneal Edema SCN003
Secondary Hyperparathyroidism of Renal Origin SCN001
Secondary Hypertrophic Osteoarthropathy SCN005
Secondary Progressive Multiple Sclerosis SCN036
Secondary Syphilis SCN006
Secretory Diarrhea SCR003
Secretory Meningioma SCR001
Sed Congenita SDC002
Sed, Maroteaux Type SDM002
Segawa Syndrome, Recessive SGW003
Segmental Dystonia SGM008
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-Scoliosis-Macrocephaly Syndrome SZR019
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 Neonatal, 1 SZR008
Seizures, Benign Neonatal, Type 2 SZR013
Selection of Therapeutic Option in Colorectal Cancer SLC026
Selective Iga Deficiency Disease SLC005
Selective Igg Deficiency Disease SLC004
Selective Immunoglobulin Deficiency Disease SLC007
Selective T-Cell Defect SLC008
Selenon-Related Congenital Fiber-Type Disproportion SLN007
Selenon-Related Multiminicore Disease SLN008
Selenon-Related Myopathy SLN009
Self-Healing Papular Mucinosis SLF008
Sella Turcica Neoplasm SLL002
Sema3a-Related Isolated Gonadotropin-Releasing Hormone Deficiency SM3001
Sema4a-Related Retinitis Pigmentosa SM4001
Semantic Dementia SMN008
Semicircular Canal Dehiscence Syndrome SMC003
Semilobar Holoprosencephaly SML028
Seminal Vesicle Adenocarcinoma SMN005
Seminal Vesicle Tumor SMN006
Seminoma SMN007
Sengers Syndrome SNG007
Senile Angioma SNL003
Senile Cataract SNL007
Senile Ectropion SNL004
Senile Entropion SNL001
Senior-Boichis Syndrome SNR014
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-Loken Syndrome-1 SNR012
Sennetsu Fever SNN001
Sensorineural Hearing Loss SNS001
Sensory Neuropathy Type 1 SNS009
Sensory Organ Benign Neoplasm SNS004
Sensory Peripheral Neuropathy SNS003
Sensory System Cancer SNS023
Separation Anxiety Disorder SPR012
Sepsis in Premature Infants SPS090
Septate Vagina SPT015
Septic Arthritis SPT004
Septicemic Plague SPT002
Septo-Optic Dysplasia Spectrum SPT019
Septooptic Dysplasia SPT006
Septopreoptic Holoprosencephaly SPT016
Serine Deficiency SRN001
Serkal Syndrome SRK001
Serotonin Syndrome SRT004
Serous Cystadenocarcinoma SRS001
Serous Labyrinthitis SRS004
Serpinf1-Related Osteogenesis Imperfecta SRP003
Serpinh1-Related Osteogenesis Imperfecta SRP004
Sertoli Cell Tumor SRT002
Sertoli Cell-Only Syndrome SRT001
Sertoli-Leydig Cell Tumor SRT003
Sesame Syndrome SSM001
Setx STX003
Setx-Related Amyotrophic Lateral Sclerosis STX001
Severe Acute Respiratory Syndrome SVR001
Severe Canavan Disease SVR048
Severe Combined Immune Deficiency SVR077
Severe Combined Immune Deficiency, Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Positive, Il7r-Related SVR036
Severe Combined Immune Deficiency, Autosomal Recessive T Cell-Negative, B Cell-Positive, Nk Cell-Positive, Ptprc-Related SVR078
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, Rag1/rag2-Related SVR022
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative, Jak3-Related SVR037
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, Cd3d-Related SVR038
Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, Cd3e-Related SVR039
Severe Combined Immunodeficiency SVR004
Severe Combined Immunodeficiency Due to Ada Deficiency SVR006
Severe Combined Immunodeficiency Due to Complete Rag1/2 Deficiency SVR069
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation SVR032
Severe Combined Immunodeficiency, Athabascan Type SVR031
Severe Combined Immunodeficiency, B Cell-Negative SVR033
Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/natural Killer-Cell Positive SVR029
Severe Combined Immunodeficiency, X-Linked SVR066
Severe Congenital Nemaline Myopathy SVR040
Severe Congenital Neutropenia SVR003
Severe Congenital Neutropenia Autosomal Dominant SVR012
Severe Early-Childhood-Onset Retinal Dystrophy SVR058
Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency SVR052
Severe Early-Onset Axonal Neuropathy Due to Nefl Deficiency SVR044
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency SVR045
Severe Hemophilia a SVR056
Severe Hemophilia B SVR057
Severe Intellectual Disability and Progressive Spastic Paraplegia SVR080
Severe Intellectual Disability-Progressive Postnatal Microcephaly- Midline Stereotypic Hand Movements Syndrome SVR062
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due to 5q31.3 Microdeletion SVR087
Severe Nonproliferative Diabetic Retinopathy SVR002
Severe Phosphoribosylpyrophosphate Synthetase Superactivity SVR064
Severe Pre-Eclampsia SVR005
Sex Cord-Gonadal Stromal Tumor SXC001
Sex Differentiation Disease SXD001
Sexual Disorder SXL003
Sexual Sadism SXL001
Sezary's Disease SZR001
Sftpb-Related Pulmonary Surfactant Metabolism Dysfunction SFT005
Sftpc-Related Familial Pulmonary Fibrosis SFT006
Sftpc-Related Pulmonary Surfactant Metabolism Dysfunction SFT007
Sgcd-Related Dilated Cardiomyopathy SGC001
Shaheen Syndrome SHH004
Sheehan Syndrome SHH001
Shh-Related Holoprosencephaly SHH003
Shigellosis SHG001
Shipyard Eye SHP001
Short Bowel Syndrome SHR001
Short Qt Syndrome SHR030
Short Qt Syndrome 1 SHR031
Short Qt Syndrome 2 SHR032
Short Qt Syndrome 3 SHR033
Short Stature with Microcephaly and Distinctive Facies SHR065
Short Stature with Nonspecific Skeletal Abnormalities SHR084
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome SHR094
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome SHR099
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities SHR073
Short Stature, Developmental Delay, and Congenital Heart Defects SHR100
Short Stature, Idiopathic Familial SHR042
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 Syndrome SHR029
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 13 with or Without Polydactyly SHR083
Short-Rib Thoracic Dysplasia 14 with Polydactyly SHR085
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly SHR067
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 Impingement Syndrome SHL001
Shox-Related Haploinsufficiency Disorders SHX001
Shox-Related Short Stature SHX002
Shprintzen-Goldberg Syndrome SHP002
Shwachman-Diamond Syndrome SHW002
Shwartzman Phenomenon SHW001
Sialadenitis SLD003
Sialic Acid Storage Disorder, Infantile SLC020
Sialidosis, Type I SLD010
Sialolithiasis SLL001
Sialuria SLR001
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
Sideroblastic Anemia SDR003
Sideroblastic Anemia Acquired SDR005
Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay SDR009
Siderosis SDR002
Sifrim-Hitz-Weiss Syndrome SFR001
Sigmar1-Related Amyotrophic Lateral Sclerosis SGM009
Sigmoid Neoplasm SGM002
Signet Ring Cell Adenocarcinoma SGN002
Silent Myocardial Infarction SLN001
Silent Pituitary Adenoma SLN005
Silicosis SLC006
Silver Spastic Paraplegia Syndrome SLV005
Silver-Russell Syndrome SLV001
Silver-Russell Syndrome Due to 11p15 Microduplication SLV018
Silver-Russell Syndrome Due to a Point Mutation SLV020
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 SLV022
Simpson-Golabi-Behmel Syndrome, Type 1 SMP007
Simpson-Golabi-Behmel Syndrome, Type 2 SMP005
Simultanagnosia SML010
Single Median Maxillary Central Incisor SNG010
Singleton Merten Syndrome SNG004
Singleton-Merten Dysplasia SNG008
Singleton-Merten Syndrome 1 SNG011
Singleton-Merten Syndrome 2 SNG012
Sinoatrial Node Disease SNT005
Sinoatrial Node Dysfunction and Deafness SNT004
Sinonasal Undifferentiated Carcinoma SNN002
Sinusitis SNS014
Sitosterolemia STS003
Six1-Related Branchiootorenal Spectrum Disorders SX1001
Six2-Related Frontonasal Dysplasia SX2003
Six3-Related Holoprosencephaly SX3001
Six5-Related Branchiootorenal Spectrum Disorders SX5001
Six6-Related Eye Disorders SX6001
Sjogren-Larsson Syndrome SJG002
Sjogren's Syndrome SJG001
Skeletal Defects, Genital Hypoplasia, and Mental Retardation SKL011
Skeletal Dysplasia SKL014
Skeletal Dysplasia, San Diego Type SKL009
Skeletal Dysplasias SKL017
Skeletal Muscle Cancer SKL003
Skeletal Muscle Regeneration SKL007
Skeletal Tuberculosis SKL001
Skin Atrophy SKN005
Skin Benign Neoplasm SKN013
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 Fragility-Woolly Hair Syndrome SKN024
Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome SKN061
Skin Hemangioma SKN018
Skin Lipoma SKN002
Skin Melanoma SKN019
Skin Papilloma SKN020
Skin Pilomatrix Carcinoma SKN011
Skin Sarcoidosis SKN006
Skin Sarcoma SKN021
Skin Squamous Cell Carcinoma SKN022
Skin Tag SKN023
Skull Base Meningioma SKL005
Skull Base Neoplasm SKL006
Slc16a1-Related Hyperinsulinism SLC029
Slc26a4-Related Pendred Syndrome SLC012
Slc35a2-Cdg SLC027
Slc39a8-Cdg SLC033
Slc40a1-Related Hereditary Hemochromatosis SLC015
Slc4a1-Related Spherocytosis SLC023
Slc6a20-Related Hyperglycinuria SLC022
Slc6a4-Related Altered Drug Metabolism SLC030
Slc6a4-Related Behavior Disorders SLC016
Slc6a5-Related Hyperekplexia SLC017
Slc6a8-Related Creatine Transporter Deficiency SLC018
Slc7a14-Related Retinitis Pigmentosa SLC032
Slc9a6-Related Syndromic Mental Retardation SLC019
Slco1b1-Related Altered Drug Metabolism SLC031
Sleep Apnea SLP006
Sleep Disorder SLP005
Sleeping Sickness SLP001
Slipped Capital Femoral Epiphysis SLP010
Slow-Channel Congenital Myasthenic Syndrome SLW003
Slowed Nerve Conduction Velocity, Ad SLW004
Slx4-Related Fanconi Anemia SLX001
Sm-Ahnmd SMH001
Smad3-Related Loeys-Dietz Syndrome SMD003
Smad3-Related Thoracic Aortic Aneurysms and Aortic Dissections SMD004
Smad4-Related Hereditary Hemorrhagic Telangiectasia SMD005
Smad4-Related Juvenile Polyposis SMD006
Smad4-Related Loeys-Dietz Syndrome SMD009
Small Cell Cancer of the Lung, Somatic SML033
Small Cell Carcinoma SML001
Small Cell Carcinoma of the Bladder SML031
Small Cell Neuroendocrine Carcinoma SML034
Small Cell Osteogenic Sarcoma SML003
Small Cell Sarcoma SML002
Small Intestinal Adenocarcinoma SML036
Small Intestinal Sarcoma SML015
Small Intestine Cancer SML016
Small Intestine Leiomyoma SML006
Small Intestine Leiomyosarcoma SML014
Small Intestine Lymphoma SML008
Small Intestine Neuroendocrine Neoplasm SML004
Small Non-Cleaved Cell Lymphoma SML025
Small Patella Syndrome SML020
Smallpox SML019
Smarca4-Related Coffin-Siris Syndrome SMR003
Smarcb1-Related Coffin-Siris Syndrome SMR004
Smarce1-Related Coffin-Siris Syndrome SMR005
Smc1a-Related Cornelia De Lange Syndrome SMC001
Smc3-Related Cornelia De Lange Syndrome SMC002
Smed Strudwick Type SMD002
Smith-Kingsmore Syndrome SMT020
Smith-Lemli-Opitz Syndrome SMT004
Smith-Magenis Syndrome SMT008
Smith-Mccort Dysplasia SMT009
Smith-Mccort Dysplasia 2 SMT018
Smoking As a Quantitative Trait Locus 1 SMK001
Smoking As a Quantitative Trait Locus 2 SMK002
Smoldering Myeloma SML011
Smooth Muscle Tumor SMT002
Smouldering Systemic Mastocytosis SML030
Snail Allergy SNL011
Snap25-Related Congenital Myasthenic Syndrome SNP001
Snca-Related Parkinson Disease SNC002
Sneddon Syndrome SND002
Snowflake Vitreoretinal Degeneration SNW001
Snrnp200-Related Retinitis Pigmentosa SNR009
Snx10-Related Autosomal Recessive Osteopetrosis SNX001
Social Phobia SCL003
Sod1-Related Amyotrophic Lateral Sclerosis SD1001
Sodium Channelopathy-Related Small Fiber Neuropathy SDM003
Soft Tissue Sarcoma SFT003
Solar Retinopathy SLR002
Solitary Bone Cyst SLT009
Solitary Osseous Plasmacytoma SLT001
Somatization Disorder SMT001
Somatoform Disorder SMT006
Somatostatinoma SMT003
Sorsby Fundus Dystrophy SRS007
Sos1-Related Noonan Syndrome SS1001
Sos2-Related Noonan Syndrome SS2001
Sost-Related Sclerosing Bone Dysplasias SST002
Sotos Syndrome 1 STS008
Sotos Syndrome 2 STS007
Sox2-Related Eye Disorders SX2001
Sp7-Related Osteogenesis Imperfecta SP7001
Space Motion Sickness SPC001
Sparc-Related Osteogenesis Imperfecta SPR102
Sparganosis SPR006
Spasmodic Dysphonia SPS016
Spasmodic Dystonia SPS134
Spasmus Nutans SPS087
Spastic Ataxia SPS008
Spastic Ataxia 1 SPS162
Spastic Ataxia 1, Autosomal Dominant SPS072
Spastic Ataxia 2 SPS170
Spastic Ataxia 2, Autosomal Recessive SPS142
Spastic Ataxia 3 SPS163
Spastic Ataxia 3, Autosomal Recessive SPS136
Spastic Ataxia 5 SPS171
Spastic Ataxia, Charlevoix-Saguenay Type SPS150
Spastic Cerebral Palsy SPS007
Spastic Diplegia SPS003
Spastic Ectropion SPS001
Spastic Entropion SPS002
Spastic Hemiplegia SPS005
Spastic Monoplegia SPS006
Spastic Paralysis, Infantile Onset Ascending SPS154
Spastic Paraparesis SPS019
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 18 SPS028
Spastic Paraplegia 18, Autosomal Recessive SPS107
Spastic Paraplegia 19 SPS029
Spastic Paraplegia 19, Autosomal Dominant SPS110
Spastic Paraplegia 2 SPS079
Spastic Paraplegia 2, X-Linked SPS133
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 SPS164
Spastic Paraplegia 28, Autosomal Recessive SPS124
Spastic Paraplegia 29 SPS035
Spastic Paraplegia 29, Autosomal Dominant SPS094
Spastic Paraplegia 3 SPS036
Spastic Paraplegia 30 SPS052
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 SPS053
Spastic Paraplegia 33, Autosomal Dominant SPS113
Spastic Paraplegia 34, X-Linked SPS062
Spastic Paraplegia 35 SPS054
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 3a, Autosomal Dominant SPS121
Spastic Paraplegia 4 SPS091
Spastic Paraplegia 4, Autosomal Dominant SPS147
Spastic Paraplegia 41, Autosomal Dominant SPS115
Spastic Paraplegia 42 SPS055
Spastic Paraplegia 42, Autosomal Dominant SPS099
Spastic Paraplegia 43 SPS173
Spastic Paraplegia 43, Autosomal Recessive SPS130
Spastic Paraplegia 44 SPS056
Spastic Paraplegia 44, Autosomal Recessive SPS096
Spastic Paraplegia 45 SPS064
Spastic Paraplegia 45, Autosomal Recessive SPS114
Spastic Paraplegia 46 SPS174
Spastic Paraplegia 46, Autosomal Recessive SPS109
Spastic Paraplegia 47 SPS165
Spastic Paraplegia 47, Autosomal Recessive SPS095
Spastic Paraplegia 48 SPS076
Spastic Paraplegia 48, Autosomal Recessive SPS071
Spastic Paraplegia 49 SPS175
Spastic Paraplegia 49, Autosomal Recessive SPS126
Spastic Paraplegia 50 SPS166
Spastic Paraplegia 50, Autosomal Recessive SPS103
Spastic Paraplegia 51 SPS080
Spastic Paraplegia 51, Autosomal Recessive SPS152
Spastic Paraplegia 52 SPS167
Spastic Paraplegia 52, Autosomal Recessive SPS122
Spastic Paraplegia 53 SPS176
Spastic Paraplegia 53, Autosomal Recessive SPS104
Spastic Paraplegia 54 SPS177
Spastic Paraplegia 54, Autosomal Recessive SPS106
Spastic Paraplegia 55 SPS178
Spastic Paraplegia 55, Autosomal Recessive SPS119
Spastic Paraplegia 56 SPS168
Spastic Paraplegia 56, Autosomal Recessive SPS101
Spastic Paraplegia 57 SPS179
Spastic Paraplegia 57, Autosomal Recessive SPS137
Spastic Paraplegia 59 SPS199
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 SPS180
Spastic Paraplegia 61, Autosomal Recessive SPS141
Spastic Paraplegia 62 SPS200
Spastic Paraplegia 63 SPS135
Spastic Paraplegia 64 SPS140
Spastic Paraplegia 64, Autosomal Recessive SPS157
Spastic Paraplegia 66 SPS169
Spastic Paraplegia 7 SPS078
Spastic Paraplegia 7, Autosomal Recessive SPS128
Spastic Paraplegia 72 SPS181
Spastic Paraplegia 72, Autosomal Recessive SPS138
Spastic Paraplegia 73, Autosomal Dominant SPS160
Spastic Paraplegia 74, Autosomal Recessive SPS156
Spastic Paraplegia 75 SPS182
Spastic Paraplegia 76 SPS201
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-Paget Disease of Bone Syndrome SPS188
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome SPS202
Spastic Paraplegia, Optic Atrophy, and Neuropathy SPS061
Spastic Quadriplegia SPS004
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome SPS189
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly SPS190
Spasticity SPS057
Spasticity Mental Retardation SPS050
Spasticity-Ataxia-Gait Anomalies Syndrome SPS146
Spata7-Related Leber Congenital Amaurosis SPT008
Spata7-Related Retinitis Pigmentosa SPT009
Specific Bursitis Often of Occupational Origin SPC002
Specific Developmental Disorder SPC003
Specific Granule Deficiency SPC006
Specific Language Impairment SPC019
Specific Language Impairment 4 SPC015
Specific Language Impairment 5 SPC023
Speech and Communication Disorders SPC010
Speech Disorder SPC005
Spermatic Cord Torsion SPR016
Spermatocele SPR017
Spermatocytoma SPR018
Spermatogenesis Arrest SPR027
Spermatogenic Failure 10 SPR082
Spermatogenic Failure 11 SPR081
Spermatogenic Failure 12 SPR087
Spermatogenic Failure 13 SPR096
Spermatogenic Failure 14 SPR095
Spermatogenic Failure 2 SPR084
Spermatogenic Failure 3 SPR086
Spermatogenic Failure 4 SPR089
Spermatogenic Failure 5 SPR061
Spermatogenic Failure 6 SPR041
Spermatogenic Failure 7 SPR088
Spermatogenic Failure 8 SPR042
Spermatogenic Failure 9 SPR043
Spermatogenic Failure, X-Linked, 2 SPR091
Spermatogenic Failure, Y-Linked, 1 SPR092
Spermatogenic Failure, Y-Linked, 2 SPR093
Sphenoid Sinusitis SPH007
Sphenoorbital Meningioma SPH003
Spherocytosis, Hereditary, Type 5 SPH018
Spherocytosis, Type 1 SPH013
Spherocytosis, Type 3 SPH015
Spherocytosis, Type 4 SPH016
Sphingolipidosis SPH010
Spina Bifida Occulta SPN221
Spinal and Bulbar Muscular Atrophy of Kennedy SPN053
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 Disease SPN041
Spinal Cord Ependymoma SPN042
Spinal Cord Glioma SPN043
Spinal Cord Infarction SPN185
Spinal Cord Injury SPN186
Spinal Cord Lymphoma SPN026
Spinal Cord Melanoma SPN025
Spinal Cord Primitive Neuroectodermal Neoplasm SPN045
Spinal Disease SPN369
Spinal Meningioma SPN021
Spinal Muscular Atrophy SPN046
Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures SPN089
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy SPN252
Spinal Muscular Atrophy with Respiratory Distress Type 2 SPN278
Spinal Muscular Atrophy-1 SPN315
Spinal Muscular Atrophy-2 SPN316
Spinal Muscular Atrophy-3 SPN317
Spinal Muscular Atrophy-4 SPN318
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 SPN326
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 SPN191
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 SPN255
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive SPN303
Spinal Muscular Atrophy, Distal, X-Linked 3 SPN188
Spinal Muscular Atrophy, Jokela Type SPN267
Spinal Muscular Atrophy, Late-Onset, Finkel Type SPN204
Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Ad SPN285
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Ad SPN260
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant SPN196
Spinal Muscular Atrophy, X-Linked 2, Infantile SPN205
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
Spink1-Related Hereditary Pancreatitis SPN164
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, Congenital Nonprogressive SPN257
Spinocerebellar Ataxia 30 SPN102
Spinocerebellar Ataxia 31 SPN103
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 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 16 SPN336
Spinocerebellar Ataxia Type 19/22 SPN247
Spinocerebellar Ataxia Type 42 SPN367
Spinocerebellar Ataxia Type10 SPN165
Spinocerebellar Ataxia Type11 SPN166
Spinocerebellar Ataxia Type12 SPN167
Spinocerebellar Ataxia Type13 SPN168
Spinocerebellar Ataxia Type14 SPN169
Spinocerebellar Ataxia Type15 SPN170
Spinocerebellar Ataxia Type17 SPN171
Spinocerebellar Ataxia Type19 SPN332
Spinocerebellar Ataxia Type23 SPN173
Spinocerebellar Ataxia Type27 SPN174
Spinocerebellar Ataxia Type28 SPN175
Spinocerebellar Ataxia Type35 SPN223
Spinocerebellar Ataxia Type36 SPN333
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 SPN366
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 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 SPN319
Spinocerebellar Ataxia, Autosomal Recessive, 22 SPN372
Spinocerebellar Ataxia, Autosomal Recessive, 24 SPN371
Spinocerebellar Ataxia, X-Linked 1 SPN202
Spinocerebellar Ataxia, X-Linked 3 SPN364
Spinocerebellar Ataxia, X-Linked 4 SPN363
Spinocerebellar Ataxia, X-Linked 5 SPN203
Spinocerebellar Degeneration SPN050
Spiradenoma SPR013
Spirochetes Disease SPR028
Spitz Nevus SPT007
Spleen Angiosarcoma SPL001
Spleen Cancer SPL011
Splenic Abscess SPL007
Splenic Artery Aneurysm SPL005
Splenic Disease SPL012
Splenic Flexure Cancer SPL003
Splenic Infarction SPL006
Splenic Manifestation of Leukemia SPL013
Splenic Marginal Zone Lymphoma SPL004
Splenic Sequestration SPL009
Splenic Tuberculosis SPL008
Splenomegaly SPL018
Split Foot SPL039
Split Hand SPL040
Split Hand Foot Malformation SPL037
Split Hand Foot Malformation 1 SPL019
Split Hand-Split Foot Malformation SPL050
Split-Foot Deformity with Mandibulofacial Dysostosis SPL056
Split-Foot Malformation with Mesoaxial Polydactyly SPL059
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss SPL048
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
Split-Hand/foot Malformation with Long Bone Deficiency 2 SPL047
Split-Hand/foot Malformation with Long Bone Deficiency 3 SPL029
Spoan Syndrome SPN337
Spondylarthropathy SPN119
Spondylitis SPN051
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia SPN208
Spondyloarthropathy SPN052
Spondyloarthropathy 1 SPN225
Spondyloarthropathy 2 SPN226
Spondyloarthropathy 3 SPN256
Spondylocarpotarsal Synostosis Syndrome SPN060
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like SPN180
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
Spondylocostal Dysostosis 5, Autosomal Dominant SPN274
Spondylocostal Dysostosis 6 SPN324
Spondylocostal Dysostosis, Autosomal Recessive SPN081
Spondyloenchondrodysplasia SPN125
Spondyloenchondrodysplasia with Immune Dysregulation SPN251
Spondyloepimetaphyseal Dysplasia SPN250
Spondyloepimetaphyseal Dysplasia Joint Laxity SPN127
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, Faden-Alkuraya Type SPN368
Spondyloepimetaphyseal Dysplasia, Genevieve Type SPN352
Spondyloepimetaphyseal Dysplasia, Matn3-Related SPN370
Spondyloepimetaphyseal Dysplasia, Missouri Type SPN030
Spondyloepimetaphyseal Dysplasia, Sponastrime Type SPN248
Spondyloepimetaphyseal Dysplasia, X-Linked SPN358
Spondyloepiphyseal Dysplasia Tarda SPN061
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant SPN300
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations SPN209
Spondyloepiphyseal Dysplasia, Kimberley Type SPN189
Spondyloepiphyseal Dysplasia, Stanescu Type SPN328
Spondylolisthesis SPN019
Spondylolysis SPN029
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type SPN289
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy SPN151
Spondylometaphyseal Dysplasia, Algerian Type SPN361
Spondylometaphyseal Dysplasia, Axial SPN348
Spondylometaphyseal Dysplasia, Corner Fracture Type SPN360
Spondylometaphyseal Dysplasia, Kozlowski Type SPN302
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type SPN329
Spondylometaphyseal Dysplasia, Sedaghatian Type SPN362
Spondyloocular Syndrome SPN331
Spondyloperipheral Dysplasia SPN154
Spondylosis SPN020
Spongiotic Dermatitis SPN011
Spontaneous Ocular Nystagmus SPN033
Sporadic Breast Cancer SPR009
Sporadic Hemiplegic Migraine SPR083
Sporadic Hyperekplexia SPR097
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 Pheochromocytoma SPR094
Sporadic Secreting Paraganglioma SPR069
Sporotrichosis SPR010
Spotted Fever SPT005
Sprengel Deformity SPR031
Spta1-Related Spherocytosis SPT017
Sptb-Related Spherocytosis SPT018
Sqstm1-Related Amyotrophic Lateral Sclerosis SQS001
Squamous Cell Carcinoma of the Oral Tongue SQM018
Squamous Cell Carcinoma, Head and Neck SQM013
Squamous Cell Papilloma SQM002
Squamous Papillomatosis SQM005
Sry-Negative 46,xx Testicular Disorder of Sex Development SRY001
Sry-Related 46,xy Dsd and 46,xy Cgd SRY003
Ssr4-Cdg SSR001
St. Louis Encephalitis STL001
Stachybotrys Chartarum STC004
Stapes Ankylosis with Broad Thumb and Toes STP005
Staphylococcal Scarlet Fever STP007
Staphylococcal Toxic Shock Syndrome STP004
Staphyloenterotoxemia STP002
Star Syndrome STR026
Stargardt Disease STR022
Stargardt Disease 1 STR084
Stargardt Disease 3 STR040
Stargardt Disease 4 STR054
Stargardt Disease, Autosomal Recessive STR042
Stargardt Macular Degeneration STR046
Startle Epilepsy STR070
Statin Toxicity STT044
Status Asthmaticus STT002
Status Epilepticus STT001
Steatitis STT003
Steatocystoma Multiplex STT007
Steatorrhea STT004
Steel Syndrome STL007
Stereotypic Movement Disorder STR015
Sternum Cancer STR017
Steroid 5-Alpha-Reductase Deficiency STR043
Steroid Inherited Metabolic Disorder STR018
Steroid-Induced Glaucoma STR019
Steroid-Resistant Nephrotic Syndrome STR044
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis STV007
Stickler Sydrome, Type I, Nonsyndromic Ocular STC009
Stickler Syndrome STC001
Stickler Syndrome, Type I STC015
Stickler Syndrome, Type Ii STC013
Stickler Syndrome, Type Iii STC014
Stickler Syndrome, Type Iv STC012
Stickler Syndrome, Type V STC011
Stiff Skin Syndrome STF002
Stiff-Person Syndrome STF001
Sting-Associated Vasculopathy, Infantile-Onset STN012
Stocco Dos Santos Syndrome STC008
Stocco Dos Santos X-Linked Mental Retardation Syndrome STC002
Stomach Carcinoma in Situ STM003
Stomach Disease STM006
Stomatitis STM007
Stomatocytosis I STM009
Stork Bite STR005
Stormorken Syndrome STR081
Strabismus STR020
Streptococcal Meningitis STR002
Streptococcal Toxic-Shock Syndrome STR077
Stress Cardiomyopathy STR037
Stress Polycythemia STR007
Striatal Degeneration, Autosomal Dominant STR045
Striatal Degeneration, Autosomal Dominant 2 STR089
Striatonigral Degeneration STR001
Striatonigral Degeneration, Childhood-Onset STR090
Striatonigral Degeneration, Infantile STR085
Stroke, Ischemic STR067
Stromal Dystrophy STR086
Stromal Keratitis STR072
Strongyloidiasis STR008
Struma Ovarii STR021
Stt3a-Cdg STT043
Stt3b-Cdg STT040
Sturge-Weber Syndrome, Somatic, Mosaic STR079
Stuttering STT041
Stuttering, Familial Persistent, 3 STT036
Stuttering, Familial Persistent, 4 STT039
Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome STV004
Stx1b-Related Generalized Epilepsy with Febrile Seizures Plus STX002
Stxbp1 Encephalopathy with Epilepsy STX004
Subacute Bacterial Endocarditis SBC003
Subacute Cutaneous Lupus Erythematosus SBC035
Subacute Delirium SBC016
Subacute Glomerulonephritis SBC010
Subacute Lymphocytic Thyroiditis SBC005
Subacute Thyroiditis SBC007
Subclavian Artery Aneurysm SBC002
Subclavian Steal Syndrome SBC014
Subcorneal Pustular Dermatosis SBC012
Subcortical Arteriosclerotic Encephalopathy SBC025
Subcortical Band Heterotopia SBC028
Subcutaneous Mycosis SBC019
Subcutaneous Panniculitis-Like T-Cell Lymphoma SBC024
Subdural Empyema SBD001
Subendocardial Myocardial Infarction SBN001
Subependymal Giant Cell Astrocytoma SBP001
Subependymal Glioma SBP002
Subependymoma SBP004
Subglottis Neoplasm SBG001
Submandibular Gland Cancer SBM004
Submandibular Gland Disease SBM003
Submucosal Cleft Palate SBM006
Substance Abuse SBS003
Substance Dependence SBS004
Substance-Induced Psychosis SBS005
Substernal Goiter SBS002
Subvalvular Aortic Stenosis SBV001
Succinate-Coa Ligase Deficiency SCC007
Succinic Semialdehyde Dehydrogenase Deficiency SCC001
Succinyl Coa:3-Oxoacid Coa Transferase Deficiency SCC010
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SCL019
Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SCL029
Sucrase-Isomaltase Deficiency, Congenital SCR037
Sudden Cardiac Death SDD007
Sudden Infant Death Syndrome SDD001
Sudden Infant Death with Dysgenesis of the Testes Syndrome SDD002
Sudden Sensorineural Hearing Loss SDD008
Sulfate Transporter-Related Osteochondrodysplasia SLF005
Sulfhemoglobinemia SLF001
Sulfite Oxidase Deficiency SLF004
Sult4a1-Related Altered Drug Metabolism SLT012
Superficial Basal Cell Carcinoma SPR005
Superficial Keratitis SPR019
Superficial Mycosis SPR020
Superficial Siderosis SPR066
Superficial Siderosis of the Central Nervous System SPR032
Superficial Urinary Bladder Cancer SPR001
Superior Limbic Keratoconjunctivitis SPR034
Superior Mesenteric Artery Syndrome SPR007
Superior Semicircular Canal Dehiscence Syndrome SPR101
Superior Vena Cava Syndrome SPR035
Supine Hypotensive Syndrome SPN031
Suppression Amblyopia SPP007
Suppurative Cholangitis SPP004
Suppurative Lymphadenitis SPP001
Suppurative Otitis Media SPP008
Suppurative Periapical Periodontitis SPP003
Suppurative Thyroiditis SPP005
Supraglottis Cancer SPR021
Supraglottis Squamous Cell Carcinoma SPR023
Supranuclear Palsy, Progressive SPR098
Supranuclear Palsy, Progressive Atypical SPR100
Supranuclear Palsy, Progressive, 2 SPR049
Supranuclear Palsy, Progressive, 3 SPR048
Suprasellar Meningioma SPR011
Supratentorial Cancer SPR024
Supratentorial Primitive Neuroectodermal Tumor SPR008
Supravalvar Aortic Stenosis SPR099
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
Susceptibility to Adverse Reaction Due to Mercaptopurine SSC046
Susceptibility to Localized Juvenile Periodontitis SSC054
Susceptibility/resistance to Hiv Infection SSC050
Sveinsson Choreoretinal Atrophy SVN001
Swayback SWY001
Sweat Gland Cancer SWT002
Sweat Gland Disease SWT003
Swine Influenza SWN001
Sycp3-Related Pregnancy Loss, Susceptibility to SYC002
Sydenham Chorea SYD002
Sympathetic Ophthalmia SYM002
Symphalangism, Proximal, 1a SYM022
Symphalangism, Proximal, 1b SYM019
Symptomatic Form of Hemophilia a in Female Carriers SYM020
Symptomatic Form of Hemophilia B in Female Carriers SYM021
Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers SYM016
Synchronous Bilateral Breast Carcinoma SYN003
Synchronous Multifocal Osteogenic Sarcoma SYN002
Syncope SYN036
Syncope, Familial Vasovagal SYN062
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction SYN063
Syndactyly, Type Iii SYN060
Syndactyly, Type Iv SYN061
Syndactyly, Type V SYN059
Syndrome of Inappropriate Antidiuretic Hormone SYN046
Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Deficiency SYN076
Syndromic X-Linked Intellectual Disability SYN064
Syndromic X-Linked Intellectual Disability 34 SYN080
Syndromic X-Linked Intellectual Disability Type 10 SYN078
Syne1-Related Autosomal Recessive Cerebellar Ataxia SYN013
Syne1-Related Emery-Dreifuss Muscular Dystrophy SYN034
Syne2-Related Emery-Dreifuss Muscular Dystrophy SYN035
Syne2-Related Emery-Dreifuss Muscular Dystrophy, Autosomal SYN071
Synesthesia SYN041
Syngnathia SYN075
Synj1-Related Parkinson Disease SYN072
Synostosis SYN005
Synovial Chondromatosis SYN031
Synovitis SYN007
Synovium Cancer SYN008
Synpolydactyly SYN012
Synpolydactyly 3 SYN040
Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses SYN037
Synpolydactyly, Type Ii SYN038
Synucleinopathy SYN058
Syp-Related X-Linked Mental Retardation SYP006
Syphilis SYP003
Syphilitic Meningitis SYP001
Syringocystadenoma Papilliferum SYR002
Syringoma SYR003
Syringomyelia SYR001
Systemic Capillary Leak Syndrome SYS007
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 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 7 SYS047
Systemic Lupus Erythematosus 8 SYS048
Systemic Lupus Erythematosus 9 SYS041
Systemic Lupus Erythematosus with Nephritis 1 SYS056
Systemic Lupus Erythematosus with Nephritis 2 SYS050
Systemic Lupus Erythematosus with Nephritis 3 SYS054
Systemic Lupus Erythematous, Association with 6 SYS039
Systemic Mastocytosis SYS004
Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease SYS059
Systemic Onset Juvenile Idiopathic Arthritis SYS034
Systemic Polyarteritis Nodosa SYS066
Systemic Scleroderma SYS005
Systolic Heart Failure SYS003
Syt2-Related Congenital Myasthenic Syndrome SYT001