Disease Name Symbol Acronym
Saccharopinuria SCC002
Sacral Agenesis with Vertebral Anomalies SCR035 SAVA
Sacrococcygeal Teratoma SCR024
Saddan SDD003 SADDAN
Saethre-Chotzen Syndrome STH001 SCS
Saethre-Chotzen Syndrome, Fgfr2-Related STH004
Sag-Related Retinitis Pigmentosa SGR002
Sagittal Sinus Thrombosis SGT001
Sagliker Syndrome SGL002
Sakati Syndrome SKT001
Salih Myopathy SLH001 EOMFC
Salivary Gland Adenoid Cystic Carcinoma SLV012
Salivary Gland Cancer SLV002
Salivary Gland Disease SLV003
Sall4-Related Disorders SLL004
Salla Disease SLL003 SD
Salmonellosis SLM003
Salpingitis SLP003
Salpingitis Isthmica Nodosa SLP002
Salpingo-Oophoritis SLP004
Sandhoff Disease, Infantile, Juvenile, and Adult Forms SND007 GM2G2
Sapho Syndrome SPH001
Sarcocystosis SRC011
Sarcoglycanopathies SRC016
Sarcoidosis 1 SRC025 SS1
Sarcoidosis 2 SRC023 SS2
Sarcoidosis 3 SRC024
Sarcoidosis, Early-Onset SRC026 EOS
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
Sarcomatous Intrahepatic Cholangiocarcinoma SRC004
Sarcosinemia SRC015 SARCOS
Satb2-Associated Syndrome STB002 SAS
Say Syndrome SYS006
Say-Barber-Biesecker Variant of Ohdo Syndrome SYB002
Sbbyss Syndrome SBB001 SBBYSS
Sc Phocomelia Syndrome SCP001 SCPS
Scabies SCB001
Scalp Dermatosis SCL001
Scalp-Ear-Nipple Syndrome SCL046 SENS
Scaphocephaly, Maxillary Retrusion, and Mental Retardation SCP007 FSPC
Scapuloperoneal Myopathy SCP010
Scapuloperoneal Myopathy, X-Linked Dominant SCP009 SPM
Scapuloperoneal Spinal Muscular Atrophy SCP002 SPSMA
Scapuloperoneal Syndrome, Myopathic Type SCP008 SPMM
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type SCP005 KAESER SYNDROME
Scar Contracture SCR033
Scarlet Fever SCR015
Scedosporiosis SCD003
Schaaf-Yang Syndrome SCH071 SHFYNG
Scheuermann Disease SCH072
Schimke Immunoosseous Dysplasia SCH016 SIOD
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic SCH063 SFM
Schindler Disease SCH017
Schindler Disease, Type I SCH069 SCHIND
Schinzel Giedion Syndrome SCH024 SGS
Schinzel-Giedion Midface Retraction Syndrome SCH037 SGMFS
Schistosoma Mansoni Infection, Susceptibility/ SCH060
Schistosomiasis SCH014
Schizencephaly SCH018 SCHZC
Schizoid Personality Disorder SCH004
Schizophrenia SCH015 SCZD
Schizophrenia 10 SCH064
Schizophrenia 15 SCH056 SCZD15
Schizophrenia 16 SCH061
Schizophrenia 17 SCH059 SCZD17
Schizophrenia 4 SCH051 SCZD4
Schizophrenia Susceptibility 18 SCH062 SCZD18
Schizophreniform Disorder SCH003
Schizotypal Personality Disorder SCH011
Schneckenbecken Dysplasia SCH030 SCHBCKD
Schneiderian Carcinoma SCH010
Schnitzler Syndrome SCH002
Schopf-Schulz-Passarge Syndrome SCH038 SSPS
Schwannoma of Twelfth Cranial Nerve SCH001
Schwannomatosis SCH070 SWNTS1
Schwannomatosis-2 SCH067 SWNTS2
Schwartz-Jampel Syndrome, Type 1 SCH068 SJS1
Sciatic Neuropathy SCT001
Scid, Autosomal Recessive, T-Negative/b-Positive Type SCD002 T B NK SCID
Scirrhous Adenocarcinoma SCR009
Scleral Disease SCL013
Scleral Staphyloma SCL014
Scleredema SCL022
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 SOST
Sclerosteosis 1 SCL045 SOST1
Sclerosteosis 2 SCL042 SOST2
Scn1a- Related Generalized Epilepsy with Febrile Seizures Plus SCN011 GEFS+
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 IS3
Scorpion Envenomation SCR039
Scotoma SCT002
Scott Syndrome SCT005 SCTS
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 SBHD
Sebaceous Adenocarcinoma SBC011
Sebaceous Adenoma SBC009
Sebaceous Gland Disease SBC017
Sebastian Syndrome SBS006 SBS
Seborrhea-Like Dermatitis with Psoriasiform Elements SBR007 SLDP
Seborrheic Dermatitis SBR004
Seborrheic Infantile Dermatitis SBR001
Seckel Syndrome SCK004 SCKL
Seckel Syndrome 1 SCK009 SCKL1
Seckel Syndrome 2 SCK015 SCKL2
Seckel Syndrome 4 SCK010 SCKL4
Seckel Syndrome 5 SCK011 SCKL5
Seckel Syndrome 6 SCK032 SCKL6
Seckel Syndrome 7 SCK029 SCKL7
Seckel Syndrome 8 SCK033 SCKL8
Seckel Syndrome 9 SCK037 SCKL9
Second-Degree Atrioventricular Block SCN049
Secondary Adrenal Insufficiency SCN052
Secondary Corneal Edema SCN003
Secondary Hyperparathyroidism of Renal Origin SCN001
Secondary Hypertrophic Osteoarthropathy SCN005
Secondary Progressive Multiple Sclerosis SCN036 SPMS
Secondary Syphilis SCN006
Secretory Diarrhea SCR003
Secretory Meningioma SCR001
Sed Congenita SDC002 SEDC
Sed, Maroteaux Type SDM002 SEDM
Segawa Syndrome, Recessive SGW003 ARSEGS
Segmental Dystonia SGM008
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome SGM010
Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia SGM005
Segmentation Syndrome 1 SGM003 SGM1
Seizure Disorder SZR006
Seizures-Scoliosis-Macrocephaly Syndrome SZR019 SSMS
Seizures, Benign Familial Infantile, 1 SZR014 BFIC
Seizures, Benign Familial Infantile, 2 SZR016 BFIS2
Seizures, Benign Familial Infantile, 3 SZR007 BFIS3
Seizures, Benign Familial Infantile, 4 SZR011
Seizures, Benign Familial Infantile, 5 SZR020 BFIS5
Seizures, Benign Neonatal, 1 SZR008 BFNS1
Seizures, Benign Neonatal, Type 2 SZR013 BFNS2
Selection of Therapeutic Option in Colorectal Cancer SLC026
Selective Iga Deficiency Disease SLC005 IGAD1
Selective Igg Deficiency Disease SLC004
Selective Immunoglobulin Deficiency Disease SLC007
Selective T-Cell Defect SLC008 IMD48
Selenon-Related Congenital Fiber-Type Disproportion SLN007
Selenon-Related Multiminicore Disease SLN008 MDRS1
Selenon-Related Myopathy SLN009 RSS
Self-Healing Papular Mucinosis SLF008
Sella Turcica Neoplasm SLL002
Sema3a-Related Isolated Gonadotropin-Releasing Hormone Deficiency SM3001 HH16
Sema4a-Related Retinitis Pigmentosa SM4001 RP35
Semantic Dementia SMN008
Semicircular Canal Dehiscence Syndrome SMC003
Semilobar Holoprosencephaly SML028
Seminal Vesicle Adenocarcinoma SMN005
Seminal Vesicle Tumor SMN006
Seminoma SMN007
Sengers Syndrome SNG007 MTDPS10
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 SLSN4
Senior-Loken Syndrome 5 SNR005 SLSN5
Senior-Loken Syndrome 6 SNR006 SLSN6
Senior-Loken Syndrome 7 SNR007 SLSN7
Senior-Loken Syndrome 8 SNR015 SLSN8
Senior-Loken Syndrome 9 SNR016 SLSN9
Senior-Loken Syndrome-1 SNR012 SLSN1
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 SOD
Septooptic Dysplasia SPT006 SOD
Septopreoptic Holoprosencephaly SPT016
Serine Deficiency SRN001
Serkal Syndrome SRK001 SERKAL
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 SESAMES
Setx-Related Amyotrophic Lateral Sclerosis STX001 ALS4
Severe Acute Respiratory Syndrome SVR001 SARS
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 SCID
Severe Combined Immunodeficiency Due to Ada Deficiency SVR006 ADASCID
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation SVR032 NHEJ1-SCID
Severe Combined Immunodeficiency, Athabascan Type SVR031 SCIDA
Severe Combined Immunodeficiency, B Cell-Negative SVR033 T B NK SCID
Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/natural Killer-Cell Positive SVR029 T B NK SCID
Severe Combined Immunodeficiency, X-Linked SVR066 XSCID
Severe Congenital Nemaline Myopathy SVR040
Severe Congenital Neutropenia SVR003
Severe Congenital Neutropenia Autosomal Dominant SVR012
Severe Early-Childhood-Onset Retinal Dystrophy SVR058 EOSRD
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 Hypotonia-Psychomotor Developmental Delay-Strabismus-Cardiac Septal Defect Syndrome SVR092
Severe Intellectual Disability and Progressive Spastic Paraplegia SVR080
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome SVR091
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 SHNS
Sheehan Syndrome SHH001
Shh-Related Holoprosencephaly SHH003 HPE3
Shigellosis SHG001
Shipyard Eye SHP001 EKC
Short Bowel Syndrome SHR001
Short Qt Syndrome SHR030 SQTS
Short Qt Syndrome 1 SHR031 SQT1
Short Qt Syndrome 2 SHR032 SQT2
Short Qt Syndrome 3 SHR033 SQT3
Short Stature with Microcephaly and Distinctive Facies SHR065 SSMF
Short Stature with Nonspecific Skeletal Abnormalities SHR084 SNSK
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 SAMS
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures SHR102 SBIDDS
Short Stature, Developmental Delay, and Congenital Heart Defects SHR103 SDDHD
Short Stature, Idiopathic Familial SHR042 ISS
Short Stature, Microcephaly, and Endocrine Dysfunction SHR082 SSMED
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis SHR059 SOFT
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly SHR058 SOPH
Short Syndrome SHR029 SHORTS
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly SHR074 ATD1
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly SHR064 SRTD10
Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly SHR071 SRTD11
Short-Rib Thoracic Dysplasia 12 SHR098
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly SHR083 SRTD13
Short-Rib Thoracic Dysplasia 14 with Polydactyly SHR085 SRTD14
Short-Rib Thoracic Dysplasia 15 with Polydactyly SHR100 SRTD15
Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly SHR101 SRTD16
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly SHR067 SRTD2
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly SHR072 SRTD3
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly SHR066 SRTD4
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly SHR068 SRTD5
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly SHR069 SRTD6
Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly SHR063 SRTD7
Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly SHR070 SRTD8
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly SHR075 SRTD9
Shoulder Impingement Syndrome SHL001
Shox-Related Haploinsufficiency Disorders SHX001
Shox-Related Short Stature SHX002
Shprintzen-Goldberg Syndrome SHP002 SGS
Shwachman-Diamond Syndrome SHW002 SDS
Shwartzman Phenomenon SHW001
Sialadenitis SLD003
Sialic Acid Storage Disorder, Infantile SLC020 ISSD
Sialidosis, Type I SLD010 SIALIDOSIS
Sialolithiasis SLL001
Sialuria SLR001 SIALURIA
Sick Building Syndrome SCK001
Sick Sinus Syndrome SCK002 SND
Sick Sinus Syndrome 1 SCK017 SSS1
Sick Sinus Syndrome 2 SCK014 SSS2
Sick Sinus Syndrome 3 SCK022 SSS3
Sickle Beta Thalassemia SCK034
Sickle Cell - Hemoglobin D Disease SCK020
Sickle Cell Anemia SCK003 SKCA
Sickle Cell Disease SCK005 SCD
Sideroblastic Anemia SDR003
Sideroblastic Anemia Acquired SDR005
Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay SDR009 SIFD
Siderosis SDR002
Sifrim-Hitz-Weiss Syndrome SFR001 SIHIWES
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 SPG17
Silver-Russell Syndrome SLV001 SRS
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 SMP003 DGSX
Simpson-Golabi-Behmel Syndrome, Type 1 SMP007 SGBS1
Simpson-Golabi-Behmel Syndrome, Type 2 SMP005 SGBS2
Simultanagnosia SML010
Single Median Maxillary Central Incisor SNG010 SMMCI
Singleton Merten Syndrome SNG004
Singleton-Merten Dysplasia SNG008
Singleton-Merten Syndrome 1 SNG011 SGMRT1
Singleton-Merten Syndrome 2 SNG012 SGMRT2
Sinoatrial Node Disease SNT005
Sinoatrial Node Dysfunction and Deafness SNT004 SANDD
Sinonasal Undifferentiated Carcinoma SNN002 SNUC
Sinus Cancer SNS011
Sinusitis SNS014
Sitosterolemia STS003 STSL
Situs Inversus STS002 SIV
Six1-Related Branchiootorenal Spectrum Disorders SX1001 BOS3
Six2-Related Frontonasal Dysplasia SX2003
Six3-Related Holoprosencephaly SX3001 HPE2
Six5-Related Branchiootorenal Spectrum Disorders SX5001 BOR2
Six6-Related Eye Disorders SX6001
Sjogren-Larsson Syndrome SJG002 SLS
Sjogren's Syndrome SJG001
Skeletal Defects, Genital Hypoplasia, and Mental Retardation SKL011 SGYMR
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 CSCSC1
Skin Creases, Congenital Symmetric Circumferential, 2 SKN062 CSCSC2
Skin Disease SKN016
Skin Fragility-Woolly Hair Syndrome SKN024 SFWHS
Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome SKN061
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
Skull Base Meningioma SKL005
Skull Base Neoplasm SKL006
Slc16a1-Related Hyperinsulinism SLC029
Slc25a4-Related Mitochondrial Dna Depletion Syndrome, Cardiomyopathic Form SLC033
Slc26a4-Related Pendred Syndrome SLC012
Slc35a2-Cdg SLC027
Slc39a8-Cdg SLC034 CDG2N
Slc40a1-Related Hereditary Hemochromatosis SLC015 HFE4
Slc4a1-Related Spherocytosis SLC023 SPH4
Slc6a20-Related Hyperglycinuria SLC022
Slc6a4-Related Altered Drug Metabolism SLC030 SERT
Slc6a4-Related Behavior Disorders SLC016
Slc6a5-Related Hyperekplexia SLC017
Slc6a8-Related Creatine Transporter Deficiency SLC018
Slc7a14-Related Retinitis Pigmentosa SLC032 RP68
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 SCCMS
Slowed Nerve Conduction Velocity, Ad SLW004 SNCV
Slx4-Related Fanconi Anemia SLX001
Sm-Ahnmd SMH001
Smad2-Related Thoracic Aortic Aneurysms and Aortic Dissections SMD010
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 SCLC
Small Cell Carcinoma SML001
Small Cell Carcinoma of the Bladder SML031 SCCB
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 ICPPS
Smallpox SML019
Smarca4-Deficient Sarcoma of Thorax SMR006
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 SEMDSTWK
Smith-Kingsmore Syndrome SMT020 SKS
Smith-Lemli-Opitz Syndrome SMT004 SLOS
Smith-Magenis Syndrome SMT008 SMS
Smith-Mccort Dysplasia SMT009 SMC1
Smith-Mccort Dysplasia 2 SMT018 SMC2
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 CMS18
Snca-Related Parkinson Disease SNC002
Sneddon Syndrome SND002 SNDDS
Snowflake Vitreoretinal Degeneration SNW001 SVD
Snrnp200-Related Retinitis Pigmentosa SNR009
Snx10-Related Autosomal Recessive Osteopetrosis SNX001
Social Phobia SCL003
Sod1-Related Amyotrophic Lateral Sclerosis SD1001 FALS
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 SFD
Sos1-Related Noonan Syndrome SS1001
Sos2-Related Noonan Syndrome SS2001
Sost-Related Sclerosing Bone Dysplasias SST002
Sotos Syndrome 1 STS008 SOTOS1
Sotos Syndrome 2 STS007 SOTOS2
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 SPAX1
Spastic Ataxia 2 SPS170 SPAX2
Spastic Ataxia 2, Autosomal Recessive SPS142 SPAX2
Spastic Ataxia 3 SPS163
Spastic Ataxia 3, Autosomal Recessive SPS136 SPAX3
Spastic Ataxia 5 SPS171 SPAX5
Spastic Ataxia, Charlevoix-Saguenay Type SPS150 SACS
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 IAHSP
Spastic Paraparesis SPS019
Spastic Paraplegia 1 SPS020 HSP1
Spastic Paraplegia 10 SPS021 HSP10
Spastic Paraplegia 10, Autosomal Dominant SPS117 SPG10
Spastic Paraplegia 11 SPS092 HSP11
Spastic Paraplegia 11, Autosomal Recessive SPS151 SPG11
Spastic Paraplegia 12 SPS022 SPG12
Spastic Paraplegia 12, Autosomal Dominant SPS131 SPG12
Spastic Paraplegia 13 SPS023 HSP13
Spastic Paraplegia 13, Autosomal Dominant SPS097 SPG13
Spastic Paraplegia 14 SPS024 SPG14
Spastic Paraplegia 14, Autosomal Recessive SPS068 SPG14
Spastic Paraplegia 15 SPS025 SPG15
Spastic Paraplegia 15, Autosomal Recessive SPS125 SPG15
Spastic Paraplegia 16 SPS026 SPG16
Spastic Paraplegia 16, X-Linked SPS198 SPG16
Spastic Paraplegia 17 SPS027 HSP17
Spastic Paraplegia 18 SPS028 IDMDC
Spastic Paraplegia 18, Autosomal Recessive SPS107 SPG18
Spastic Paraplegia 19 SPS029 SPG19
Spastic Paraplegia 19, Autosomal Dominant SPS110 SPG19
Spastic Paraplegia 2, X-Linked SPS133 SPG2
Spastic Paraplegia 23 SPS031 SPG23
Spastic Paraplegia 24 SPS032 SPG24
Spastic Paraplegia 24, Autosomal Recessive SPS120 SPG24
Spastic Paraplegia 25 SPS033 SPG25
Spastic Paraplegia 25, Autosomal Recessive SPS102 SPG25
Spastic Paraplegia 26 SPS034 SPG26
Spastic Paraplegia 26, Autosomal Recessive SPS116 SPG26
Spastic Paraplegia 27, Autosomal Recessive SPS111
Spastic Paraplegia 28 SPS164
Spastic Paraplegia 28, Autosomal Recessive SPS124 SPG28
Spastic Paraplegia 29 SPS035 SPG29
Spastic Paraplegia 29, Autosomal Dominant SPS094 SPG29
Spastic Paraplegia 3 SPS036 SPG3
Spastic Paraplegia 30 SPS052 SPG30
Spastic Paraplegia 30, Autosomal Recessive SPS098 SPG30
Spastic Paraplegia 31 SPS037 HSP31
Spastic Paraplegia 31, Autosomal Dominant SPS148 SPG31
Spastic Paraplegia 32 SPS161 SPG32
Spastic Paraplegia 32, Autosomal Recessive SPS123 SPG32
Spastic Paraplegia 33 SPS053 HSP33
Spastic Paraplegia 33, Autosomal Dominant SPS113 SPG33
Spastic Paraplegia 34, X-Linked SPS062 SPG34
Spastic Paraplegia 35 SPS054 SPG35
Spastic Paraplegia 35, Autosomal Recessive SPS153 SPG35
Spastic Paraplegia 36, Autosomal Dominant SPS118 SPG36
Spastic Paraplegia 37, Autosomal Dominant SPS105 SPG37
Spastic Paraplegia 38, Autosomal Dominant SPS100 SPG38
Spastic Paraplegia 39 SPS038 SPG39
Spastic Paraplegia 39, Autosomal Recessive SPS129 SPG39
Spastic Paraplegia 3a SPS012 HSP3
Spastic Paraplegia 3a, Autosomal Dominant SPS121 SPG3
Spastic Paraplegia 4 SPS091 FSP2
Spastic Paraplegia 4, Autosomal Dominant SPS147 SPG4
Spastic Paraplegia 41, Autosomal Dominant SPS115 SPG41
Spastic Paraplegia 42 SPS055 SPG42
Spastic Paraplegia 42, Autosomal Dominant SPS099 SPG42
Spastic Paraplegia 43 SPS173 SPG43
Spastic Paraplegia 43, Autosomal Recessive SPS130 SPG43
Spastic Paraplegia 44 SPS056 SPG44
Spastic Paraplegia 44, Autosomal Recessive SPS096 SPG44
Spastic Paraplegia 45 SPS064 SPG45
Spastic Paraplegia 45, Autosomal Recessive SPS114 SPG45
Spastic Paraplegia 46 SPS174 SPG46
Spastic Paraplegia 46, Autosomal Recessive SPS109 SPG46
Spastic Paraplegia 47 SPS165 SPG47
Spastic Paraplegia 47, Autosomal Recessive SPS095 SPG47
Spastic Paraplegia 48 SPS076
Spastic Paraplegia 48, Autosomal Recessive SPS071 SPG48
Spastic Paraplegia 49 SPS175 SPG49
Spastic Paraplegia 49, Autosomal Recessive SPS126 SPG49
Spastic Paraplegia 50 SPS166
Spastic Paraplegia 50, Autosomal Recessive SPS103 CPSQ3
Spastic Paraplegia 51 SPS080 SPG51
Spastic Paraplegia 51, Autosomal Recessive SPS152 SPG51
Spastic Paraplegia 52 SPS167
Spastic Paraplegia 52, Autosomal Recessive SPS122 SPG52
Spastic Paraplegia 53 SPS176
Spastic Paraplegia 53, Autosomal Recessive SPS104 SPG53
Spastic Paraplegia 54 SPS177 SPG54
Spastic Paraplegia 54, Autosomal Recessive SPS106 SPG54
Spastic Paraplegia 55 SPS178 SPG55
Spastic Paraplegia 55, Autosomal Recessive SPS119 SPG55
Spastic Paraplegia 56 SPS168
Spastic Paraplegia 56, Autosomal Recessive SPS101 SPG56
Spastic Paraplegia 57 SPS179 SPG57
Spastic Paraplegia 57, Autosomal Recessive SPS137 SPG57
Spastic Paraplegia 59 SPS199
Spastic Paraplegia 5a SPS039
Spastic Paraplegia 5a, Autosomal Recessive SPS108 SPG5A
Spastic Paraplegia 5b SPS040
Spastic Paraplegia 6 SPS041 FSP3
Spastic Paraplegia 6, Autosomal Dominant SPS127 SPG6
Spastic Paraplegia 61 SPS180 SPG61
Spastic Paraplegia 61, Autosomal Recessive SPS141 SPG61
Spastic Paraplegia 62 SPS200
Spastic Paraplegia 63 SPS135 SPG63
Spastic Paraplegia 64 SPS140 SPG64
Spastic Paraplegia 64, Autosomal Recessive SPS157 SPG64
Spastic Paraplegia 66 SPS169
Spastic Paraplegia 7, Autosomal Recessive SPS128 SPG7
Spastic Paraplegia 72 SPS181 SPG72
Spastic Paraplegia 72, Autosomal Recessive SPS138 SPG72
Spastic Paraplegia 73, Autosomal Dominant SPS160 SPG73
Spastic Paraplegia 74, Autosomal Recessive SPS156 SPG74
Spastic Paraplegia 75 SPS182 SPG75
Spastic Paraplegia 76 SPS201 SPG76
Spastic Paraplegia 78, Autosomal Recessive SPS203 SPG78
Spastic Paraplegia 8 SPS013 HSP8
Spastic Paraplegia 8, Autosomal Dominant SPS149 SPG8
Spastic Paraplegia 9 SPS042 SPG9
Spastic Paraplegia 9a, Autosomal Dominant SPS158 SPG9A
Spastic Paraplegia 9b, Autosomal Recessive SPS159 SPG9B
Spastic Paraplegia-Paget Disease of Bone Syndrome SPS188
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome SPS202
Spastic Paraplegia, Optic Atrophy, and Neuropathy SPS061 SPOAN
Spastic Quadriplegia SPS004
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome SPS189
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly SPS190 SPATCCM
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 SLI5
Speech and Communication Disorders SPC010
Speech Disorder SPC005
Spermatic Cord Torsion SPR016
Spermatocele SPR017
Spermatocytoma SPR018
Spermatogenesis Arrest SPR027
Spermatogenic Failure 10 SPR082 SPGF10
Spermatogenic Failure 11 SPR081 SPGF11
Spermatogenic Failure 12 SPR087 SPGF12
Spermatogenic Failure 13 SPR096 SPGF13
Spermatogenic Failure 14 SPR095 SPGF14
Spermatogenic Failure 16 SPR111 SPGF16
Spermatogenic Failure 17 SPR110 SPGF17
Spermatogenic Failure 2 SPR084
Spermatogenic Failure 3 SPR086 SPGF3
Spermatogenic Failure 4 SPR089 RPRGL4
Spermatogenic Failure 5 SPR061 SPGF5
Spermatogenic Failure 6 SPR041 SPGF6
Spermatogenic Failure 7 SPR088 SPGF7
Spermatogenic Failure 8 SPR042 SPGF8
Spermatogenic Failure 9 SPR043 SPGF9
Spermatogenic Failure, X-Linked, 2 SPR091 SPGFX2
Spermatogenic Failure, Y-Linked, 1 SPR092
Spermatogenic Failure, Y-Linked, 2 SPR093 SPGFY2
Sphenoid Sinusitis SPH007
Sphenoorbital Meningioma SPH003
Spherocytosis, Hereditary, Type 5 SPH018 SPH5
Spherocytosis, Type 1 SPH013 SPH1
Spherocytosis, Type 3 SPH015 SPH3
Spherocytosis, Type 4 SPH016 SPH4
Sphingolipidosis SPH010
Spina Bifida Aperta SPN237
Spina Bifida Occulta SPN221
Spinal and Bulbar Muscular Atrophy of Kennedy SPN053 SMAX1
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 SMA
Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures SPN089 SMABF1
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy SPN252 SMAPME
Spinal Muscular Atrophy with Respiratory Distress Type 2 SPN278
Spinal Muscular Atrophy-1 SPN315 SMA1
Spinal Muscular Atrophy-2 SPN316 SMA2
Spinal Muscular Atrophy-3 SPN317 SMA3
Spinal Muscular Atrophy-4 SPN318 SMA4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 SPN326 DSMA2
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 SPN191 DSMA4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 SPN255 DSMA5
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive SPN303 HMN8
Spinal Muscular Atrophy, Distal, X-Linked 3 SPN188 DSMAX3
Spinal Muscular Atrophy, Jokela Type SPN267 SMAJ
Spinal Muscular Atrophy, Late-Onset, Finkel Type SPN204 SMAPAD
Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Ad SPN285 SMALED1
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Ad SPN260 SMALED2
Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant SPN196
Spinal Muscular Atrophy, X-Linked 2, Infantile SPN205 SMAX2
Spinal Stenosis SPN027
Spindle Cell Carcinoma SPN032
Spindle Cell Hemangioma SPN012 SCH
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 SCA1
Spinocerebellar Ataxia 10 SPN314 SCA10
Spinocerebellar Ataxia 11 SPN305 SCA11
Spinocerebellar Ataxia 12 SPN293 SCA12
Spinocerebellar Ataxia 13 SPN311 SCA13
Spinocerebellar Ataxia 14 SPN312 SCA14
Spinocerebellar Ataxia 15 SPN290 SCA15
Spinocerebellar Ataxia 17 SPN296 SCA17
Spinocerebellar Ataxia 18 SPN094 SMNA
Spinocerebellar Ataxia 19 SPN095 SCA19
Spinocerebellar Ataxia 2 SPN301 ALS13
Spinocerebellar Ataxia 20 SPN299 SCA20
Spinocerebellar Ataxia 21 SPN096 SCA21
Spinocerebellar Ataxia 23 SPN097 SCA23
Spinocerebellar Ataxia 25 SPN098 SCA25
Spinocerebellar Ataxia 26 SPN099 SCA26
Spinocerebellar Ataxia 27 SPN100 SCA27
Spinocerebellar Ataxia 28 SPN308 SCA28
Spinocerebellar Ataxia 29, Congenital Nonprogressive SPN257 SCA29
Spinocerebellar Ataxia 30 SPN102 SCA30
Spinocerebellar Ataxia 31 SPN103 SCA31
Spinocerebellar Ataxia 32 SPN259 SCA32
Spinocerebellar Ataxia 34 SPN104 SCA34
Spinocerebellar Ataxia 35 SPN266 SCA35
Spinocerebellar Ataxia 36 SPN265 SCA36
Spinocerebellar Ataxia 37 SPN283 SCA37
Spinocerebellar Ataxia 38 SPN284 SCA38
Spinocerebellar Ataxia 4 SPN105 SCA4
Spinocerebellar Ataxia 40 SPN286 SCA40
Spinocerebellar Ataxia 41 SPN323 SCA41
Spinocerebellar Ataxia 43 SPN372 SCA43
Spinocerebellar Ataxia 5 SPN106 SCA5
Spinocerebellar Ataxia 6 SPN309 SCA6
Spinocerebellar Ataxia 7 SPN291 SCA7
Spinocerebellar Ataxia 8 SPN304 SCA8
Spinocerebellar Ataxia 9 SPN107 SCA9
Spinocerebellar Ataxia Autosomal Recessive 5 SPN111 CAMOS
Spinocerebellar Ataxia Type 16 SPN336
Spinocerebellar Ataxia Type 19/22 SPN247
Spinocerebellar Ataxia Type 42 SPN367 SCA42
Spinocerebellar Ataxia Type10 SPN165 SCA10
Spinocerebellar Ataxia Type11 SPN166 SCA11
Spinocerebellar Ataxia Type12 SPN167 SCA12
Spinocerebellar Ataxia Type13 SPN168 SCA13
Spinocerebellar Ataxia Type14 SPN169 SCA14
Spinocerebellar Ataxia Type15 SPN170 SCA15
Spinocerebellar Ataxia Type17 SPN171 HDL4
Spinocerebellar Ataxia Type19 SPN332
Spinocerebellar Ataxia Type23 SPN173 SCA23
Spinocerebellar Ataxia Type27 SPN174 SCA27
Spinocerebellar Ataxia Type28 SPN175 SCA28
Spinocerebellar Ataxia Type35 SPN223 SCA35
Spinocerebellar Ataxia Type36 SPN333
Spinocerebellar Ataxia with Axonal Neuropathy Type 2 SPN366 AOA2
Spinocerebellar Ataxia, Autosomal Recessive 1 SPN327 SCAR1
Spinocerebellar Ataxia, Autosomal Recessive 10 SPN214 SCAR10
Spinocerebellar Ataxia, Autosomal Recessive 11 SPN254 SCAR11
Spinocerebellar Ataxia, Autosomal Recessive 12 SPN264 SCAR12
Spinocerebellar Ataxia, Autosomal Recessive 13 SPN258 SCAR13
Spinocerebellar Ataxia, Autosomal Recessive 14 SPN261 SCAR14
Spinocerebellar Ataxia, Autosomal Recessive 15 SPN272 SCAR15
Spinocerebellar Ataxia, Autosomal Recessive 16 SPN273 SCAR16
Spinocerebellar Ataxia, Autosomal Recessive 17 SPN298 SCAR17
Spinocerebellar Ataxia, Autosomal Recessive 18 SPN292 SCAR18
Spinocerebellar Ataxia, Autosomal Recessive 2 SPN200 SCAR2
Spinocerebellar Ataxia, Autosomal Recessive 20 SPN325 SCAR20
Spinocerebellar Ataxia, Autosomal Recessive 3 SPN295 SCAR3
Spinocerebellar Ataxia, Autosomal Recessive 4 SPN288 SCAR4
Spinocerebellar Ataxia, Autosomal Recessive 6 SPN313 SCAR6
Spinocerebellar Ataxia, Autosomal Recessive 7 SPN201 SCAR7
Spinocerebellar Ataxia, Autosomal Recessive 8 SPN207 SCAR8
Spinocerebellar Ataxia, Autosomal Recessive with Axonal Neuropathy SPN319 SCAN1
Spinocerebellar Ataxia, Autosomal Recessive, 22 SPN374 SCAR22
Spinocerebellar Ataxia, Autosomal Recessive, 24 SPN373 SCAR24
Spinocerebellar Ataxia, X-Linked 1 SPN202 SCAX1
Spinocerebellar Ataxia, X-Linked 3 SPN364 SCAX3
Spinocerebellar Ataxia, X-Linked 4 SPN363 SCAX4
Spinocerebellar Ataxia, X-Linked 5 SPN203
Spinocerebellar Degeneration SPN050
Spiradenoma SPR013 ES
Spirochetes Disease SPR028
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 SDRPL
Splenic Disease SPL012
Splenic Flexure Cancer SPL003
Splenic Infarction SPL006
Splenic Manifestation of Leukemia SPL013
Splenic Marginal Zone Lymphoma SPL004 SMZL
Splenic Sequestration SPL009
Splenic Tuberculosis SPL008
Splenomegaly SPL018
Split Foot SPL039
Split Hand SPL040
Split Hand Foot Malformation SPL037 SHFM
Split Hand Foot Malformation 1 SPL019 SHFD1
Split Hand-Split Foot Malformation SPL050 SHFM
Split-Foot Deformity with Mandibulofacial Dysostosis SPL056
Split-Foot Malformation with Mesoaxial Polydactyly SPL059 SFMMP
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss SPL048 SHFM1D
Split-Hand/foot Malformation 3 SPL024 SHFM3
Split-Hand/foot Malformation 4 SPL034 SHFM4
Split-Hand/foot Malformation 5 SPL025 SHFM5
Split-Hand/foot Malformation 6 SPL033 SHFM6
Split-Hand/foot Malformation with Long Bone Deficiency 1 SPL027 SHFLD
Split-Hand/foot Malformation with Long Bone Deficiency 2 SPL047
Split-Hand/foot Malformation with Long Bone Deficiency 3 SPL029 SHFLD3
Spoan Syndrome SPN337
Spondylarthropathy SPN119
Spondylitis SPN051
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia SPN208 SMMD
Spondyloarthropathy SPN052
Spondyloarthropathy 1 SPN225 SPDA1
Spondyloarthropathy 2 SPN226
Spondyloarthropathy 3 SPN256
Spondylocarpotarsal Synostosis Syndrome SPN060 SCT
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like SPN180 SCD-EDS
Spondylocostal Dysostosis 1 SPN121 SCDO1
Spondylocostal Dysostosis 1, Autosomal Recessive SPN310 SCDO1
Spondylocostal Dysostosis 2 SPN122 SCDO2
Spondylocostal Dysostosis 2, Autosomal Recessive SPN307 SCDO2
Spondylocostal Dysostosis 3 SPN123 SCOD3
Spondylocostal Dysostosis 3, Autosomal Recessive SPN297 SCDO3
Spondylocostal Dysostosis 4 SPN124 SCDO4
Spondylocostal Dysostosis 4, Autosomal Recessive SPN215 SCDO4
Spondylocostal Dysostosis 5 SPN330 SCDO5
Spondylocostal Dysostosis 5, Autosomal Dominant SPN274
Spondylocostal Dysostosis 6 SPN324 SCDO6
Spondylocostal Dysostosis, Autosomal Recessive SPN081
Spondylodysplastic Ehlers-Danlos Syndrome SPN370 PDS
Spondyloenchondrodysplasia SPN125 SEM
Spondyloenchondrodysplasia with Immune Dysregulation SPN251 SPENCDI
Spondyloepimetaphyseal Dysplasia SPN250 SEMD-MATN3
Spondyloepimetaphyseal Dysplasia Joint Laxity SPN127
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures SPN253 SEMDJL1
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 SPN263 SEMDJL2
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations SPN133
Spondyloepimetaphyseal Dysplasia, Aggrecan Type SPN136 SEMD-ACAN
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type SPN368 SEMDFA
Spondyloepimetaphyseal Dysplasia, Genevieve Type SPN352 SEMDG
Spondyloepimetaphyseal Dysplasia, Matn3-Related SPN371
Spondyloepimetaphyseal Dysplasia, Missouri Type SPN030 MANDP1
Spondyloepimetaphyseal Dysplasia, Sponastrime Type SPN248
Spondyloepimetaphyseal Dysplasia, X-Linked SPN358 SEMDX
Spondyloepiphyseal Dysplasia Tarda SPN061 SEDT
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant SPN300
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations SPN209 SEDCJD
Spondyloepiphyseal Dysplasia, Kimberley Type SPN189 SEDK
Spondyloepiphyseal Dysplasia, Stanescu Type SPN328 SEDSTN
Spondylolisthesis SPN019
Spondylolysis SPN029
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type SPN289 SEMD-SL
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy SPN151 SMDCRD
Spondylometaphyseal Dysplasia, Algerian Type SPN361
Spondylometaphyseal Dysplasia, Axial SPN348
Spondylometaphyseal Dysplasia, Corner Fracture Type SPN360
Spondylometaphyseal Dysplasia, Kozlowski Type SPN302 SMDK
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type SPN329 SMDMDM
Spondylometaphyseal Dysplasia, Sedaghatian Type SPN362 SMDS
Spondyloocular Syndrome SPN331 SOS
Spondyloperipheral Dysplasia SPN154 SPD
Spondylosis SPN020
Spongiotic Dermatitis SPN011
Spontaneous Ocular Nystagmus SPN033
Sporadic Breast Cancer SPR009
Sporadic Hemiplegic Migraine SPR083 SHM
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 SPH3
Sptb-Related Spherocytosis SPT018 SPH2
Sqstm1-Related Amyotrophic Lateral Sclerosis SQS001
Squamous Cell Carcinoma SQM006
Squamous Cell Carcinoma of the Oral Tongue SQM018 OTSCC
Squamous Cell Carcinoma, Head and Neck SQM013 HNSCC
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 CDGIY
St. Louis Encephalitis STL001
St14-Related Autosomal Recessive Congenital Ichthyosis ST1001
Stachybotrys Chartarum STC004
Stapes Ankylosis with Broad Thumb and Toes STP005 SABTS
Staphylococcal Scarlet Fever STP007
Staphylococcal Toxic Shock Syndrome STP004
Staphyloenterotoxemia STP002
Star Syndrome STR026 STAR
Stargardt Disease STR022
Stargardt Disease 1 STR084 STGD1
Stargardt Disease 3 STR040 STGD3
Stargardt Disease 4 STR054 STGD4
Stargardt Disease, Autosomal Recessive STR042 STGD1
Stargardt Macular Degeneration STR046 STGD
Startle Epilepsy STR070
Statin Toxicity STT044
Status Asthmaticus STT002
Status Epilepticus STT001 SE
Steatitis STT003
Steatocystoma Multiplex STT007 SM
Steatorrhea STT004
Steel Syndrome STL007 STLS
Stereotypic Movement Disorder STR015
Sternum Cancer STR017
Steroid 5-Alpha-Reductase Deficiency STR043 PPSH
Steroid Inherited Metabolic Disorder STR018
Steroid-Induced Glaucoma STR019
Steroid-Resistant Nephrotic Syndrome, Nphs2-Related STR090 SRN1
Steroid-Resistant Nephrotic Syndrome, Xpo5-Related STR091
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis STV007
Stickler Sydrome, Type I, Nonsyndromic Ocular STC009 DRRD
Stickler Syndrome STC001
Stickler Syndrome, Type I STC015 STL1
Stickler Syndrome, Type Ii STC013 STL2
Stickler Syndrome, Type Iii STC014 STL3
Stickler Syndrome, Type Iv STC012 STL4
Stickler Syndrome, Type V STC011 STL5
Sticky Platelet Syndrome STC016
Stiff Skin Syndrome STF002 SSKS
Stiff-Person Syndrome STF001 SMS
Sting-Associated Vasculopathy, Infantile-Onset STN012 SAVI
Stocco Dos Santos Syndrome STC008
Stocco Dos Santos X-Linked Mental Retardation Syndrome STC002 SDSX
Stomach Carcinoma in Situ STM003
Stomach Disease STM006
Stomatitis STM007
Stomatocytosis I STM009 OHST
Storage Pool Platelet Disease STR089
Stork Bite STR005
Stormorken Syndrome STR081 STRMK
Strabismus STR020
Streptococcal Meningitis STR002
Streptococcal Toxic-Shock Syndrome STR077
Stress Polycythemia STR007
Striatal Degeneration, Autosomal Dominant STR045 ADSD1
Striatal Degeneration, Autosomal Dominant 2 STR092 ADSD2
Striatonigral Degeneration STR001
Striatonigral Degeneration, Childhood-Onset STR093 SNDC
Striatonigral Degeneration, Infantile STR085 SNDI
Stroke, Ischemic STR067 ISCHSTR
Stromal Dystrophy STR086
Stromal Keratitis STR072
Strongyloidiasis STR008
Struma Ovarii STR021
Stt3a-Cdg STT043
Stt3b-Cdg STT040
Sturge-Weber Syndrome, Somatic, Mosaic STR079 SWS
Stuttering STT041
Stuttering, Familial Persistent, 3 STT036
Stuttering, Familial Persistent, 4 STT039
Stuve-Wiedemann Syndrome/schwartz-Jampel Type 2 Syndrome STV004 STWS
Stx1b-Related Generalized Epilepsy with Febrile Seizures Plus STX002
Stxbp1 Encephalopathy with Epilepsy STX004 EIEE4
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 DC
Subcutaneous Mycosis SBC019
Subcutaneous Panniculitis-Like T-Cell Lymphoma SBC024 SPTCL
Subdural Empyema SBD001
Subendocardial Myocardial Infarction SBN001
Subependymal Giant Cell Astrocytoma SBP001 SEGA
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 SSADHD
Succinyl Coa:3-Oxoacid Coa Transferase Deficiency SCC010 SCOTD
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SCL019
Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria SCL055
Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SCL029
Sucrase-Isomaltase Deficiency, Congenital SCR037 CSID
Sudden Cardiac Death SDD007
Sudden Cardiac Failure, Alcohol-Induced SDD010 SCFAI
Sudden Cardiac Failure, Infantile SDD009 SCFI
Sudden Infant Death Syndrome SDD001 SIDS
Sudden Infant Death with Dysgenesis of the Testes Syndrome SDD002 SIDDT
Sudden Sensorineural Hearing Loss SDD008
Sulfate Transporter-Related Osteochondrodysplasia SLF005
Sulfhemoglobinemia SLF001
Sulfite Oxidase Deficiency SLF004 ISOD
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 SLK
Superior Mesenteric Artery Syndrome SPR007
Superior Semicircular Canal Dehiscence Syndrome SPR101 SCDS
Superior Vena Cava Syndrome SPR035 SVCS
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 PSNP1
Supranuclear Palsy, Progressive Atypical SPR100 PARDE
Supranuclear Palsy, Progressive, 2 SPR049
Supranuclear Palsy, Progressive, 3 SPR048
Suprasellar Meningioma SPR011
Supratentorial Cancer SPR024
Supratentorial Primitive Neuroectodermal Tumor SPR008 PNET
Supravalvar Aortic Stenosis SPR099 SVAS
Surfactant Dysfunction SRF006
Surfactant Metabolism Dysfunction, Pulmonary, 1 SRF004 SMDP1
Surfactant Metabolism Dysfunction, Pulmonary, 2 SRF003 SMDP2
Surfactant Metabolism Dysfunction, Pulmonary, 3 SRF005 SMDP3
Surfactant Metabolism Dysfunction, Pulmonary, 4 SRF008 SMDP4
Surfactant Metabolism Dysfunction, Pulmonary, 5 SRF007 SMDP5
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 SCRA
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 SYM1A
Symphalangism, Proximal, 1b SYM019 SYM1B
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 SYN001
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction SYN063 MSSD
Syndactyly, Type Iii SYN060 SDTY3
Syndactyly, Type Iv SYN061 SDTY4
Syndactyly, Type V SYN059 SDTY5
Syndrome of Inappropriate Antidiuretic Hormone SYN046 SIADH
Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Deficiency SYN076
Syndromic X-Linked Intellectual Disability SYN064
Syndromic X-Linked Intellectual Disability 34 SYN080 MRXS34
Syndromic X-Linked Intellectual Disability Siderius Type SYN079
Syndromic X-Linked Intellectual Disability Type 10 SYN078
Syne1-Related Autosomal Recessive Cerebellar Ataxia SYN013
Syne1-Related Emery-Dreifuss Muscular Dystrophy SYN034 EDMD4
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 SPD
Synpolydactyly 3 SYN040 SPD3
Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses SYN037 SPD2
Synpolydactyly, Type Ii SYN038 SPD1
Synucleinopathy SYN058
Syp-Related X-Linked Mental Retardation SYP006
Syphilis SYP003
Syphilitic Meningitis SYP001
Syringocystadenoma Papilliferum SYR002 SCAP
Syringoma SYR003
Syringomyelia SYR001
Systemic Capillary Leak Syndrome SYS007 SCLS
Systemic Lupus Erythematosus SYS001 SLE
Systemic Lupus Erythematosus 1 SYS043 SLEB1
Systemic Lupus Erythematosus 10 SYS040 SLEB10
Systemic Lupus Erythematosus 11 SYS065 SLEB11
Systemic Lupus Erythematosus 12 SYS055
Systemic Lupus Erythematosus 13 SYS052
Systemic Lupus Erythematosus 14 SYS045
Systemic Lupus Erythematosus 16 SYS061 SLEB16
Systemic Lupus Erythematosus 2 SYS038 SLEB2
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 SLEB9
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 SLEB6
Systemic Mastocytosis SYS004 SMCD
Systemic Mastocytosis with an Associated Clonal Hematologic Non-Mast Cell Lineage Disease SYS059
Systemic Onset Juvenile Idiopathic Arthritis SYS034
Systemic Scleroderma SYS005 PSS
Systolic Heart Failure SYS003
Syt2-Related Congenital Myasthenic Syndrome SYT001 CMS7
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