Disease Name Symbol Acronym
Saccharopinuria SCC002
Sacral Agenesis with Vertebral Anomalies SCR035 SAVA
Sacral Defect with Anterior Meningocele SCR020 SDAM
Sacrococcygeal Teratoma SCR024
Saethre-Chotzen Syndrome STH001 SCS
Sagittal Sinus Thrombosis SGT001
Sagliker Syndrome SGL002
Salih Myopathy SLH001 SALMY
Salivary Gland Adenoma, Pleomorphic SLV025 PSA
Salivary Gland Carcinoma SLV026
Salivary Gland Disease SLV003
Salla Disease SLL003 SD
Salmonellosis SLM003
Salpingitis SLP003
Salpingitis Isthmica Nodosa SLP002
Salpingo-Oophoritis SLP004
Salt and Pepper Developmental Regression Syndrome SLT014 SPDRS
Sandhoff Disease SND001 GM2G2
Santos Syndrome SNT006
Sapho Syndrome SPH001
Sarcocystosis SRC011
Sarcoidosis 1 SRC025 SS1
Sarcoidosis 2 SRC023 SS2
Sarcoidosis 3 SRC024 SS3
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
Sarcomatosis of the Meninges SRC010
Sarcomatous Intrahepatic Cholangiocarcinoma SRC004
Sarcosinemia SRC015 SARCOS
Satb2-Associated Syndrome STB002 SAS
Saul-Wilson Syndrome SLW006 SWILS
Say Syndrome SYS006
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, Myh7-Related SCP012 SPMM
Scapuloperoneal Myopathy, X-Linked Dominant SCP009 SPM
Scapuloperoneal Spinal Muscular Atrophy SCP002 SPSMA
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type SCP005 KAESER SYNDROME
Scar Contracture SCR033
Scarlet Fever SCR015
Scedosporiosis SCD003
Schaaf-Yang Syndrome SCH071 SHFYNG
Scheie Syndrome SCH036 MPS1S
Scheuermann Disease SCH072
Schimke Immunoosseous Dysplasia SCH016 SIOD
Schimmelpenning-Feuerstein-Mims Syndrome SCH078 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 SM1
Schistosomiasis SCH014
Schizencephaly SCH018 SCHZC
Schizoaffective Disorder SCH012
Schizoid Personality Disorder SCH004
Schizophrenia SCH015 SCZD
Schizophrenia 1 SCH079 SCZD1
Schizophrenia 10 SCH064
Schizophrenia 11 SCH086
Schizophrenia 12 SCH045
Schizophrenia 13 SCH053
Schizophrenia 14 SCH052
Schizophrenia 15 SCH056 SCZD15
Schizophrenia 16 SCH061
Schizophrenia 18 SCH087 SCZD18
Schizophrenia 19 SCH075 SCZD19
Schizophrenia 2 SCH085 SCZD2
Schizophrenia 3 SCH080 SCZD3
Schizophrenia 4 SCH051 SCZD4
Schizophrenia 5 SCH082 SCZD5
Schizophrenia 6 SCH081 SCZD6
Schizophrenia 7 SCH083 SCZD7
Schizophrenia 8 SCH084 SCZD8
Schizophrenia 9 SCH073 SCZD9
Schizophreniform Disorder SCH003
Schizotypal Personality Disorder SCH011
Schneckenbecken Dysplasia SCH030 SHNKND
Schneiderian Carcinoma SCH010
Schnitzler Syndrome SCH002
Schnyder Corneal Dystrophy SCH076 SCCD
Schopf-Schulz-Passarge Syndrome SCH038 SSPS
Schuurs-Hoeijmakers Syndrome SCH074 SHMS
Schwannoma of Twelfth Cranial Nerve SCH001
Schwannomatosis 1 SCH077 SWNTS1
Schwannomatosis 2 SCH088 SWNTS2
Schwartz-Jampel Syndrome, Type 1 SCH068 SJS1
Sciatic Neuropathy SCT001
Scirrhous Adenocarcinoma SCR009
Scleral Disease SCL013
Scleral Staphyloma SCL014
Scleredema Adultorum SCL002
Scleritis SCL015
Sclerocornea SCL047
Sclerocornea, Autosomal Dominant SCL053
Scleroderma, Familial Progressive SCL052
Scleromalacia Perforans SCL008
Scleromyxedema SCL025
Sclerosing Cholangitis SCL009
Sclerosing Cholangitis, Neonatal SCL056 NSC
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
Scn2a Related Disorders SCN063
Scn8a Encephalopathy SCN061
Scn8a-Related Epilepsy with Encephalopathy SCN060
Scoliosis SCL018
Scoliosis, Isolated 1 SCL057 AIS
Scoliosis, Isolated 2 SCL058 IS2
Scoliosis, Isolated 3 SCL049 IS3
Scoliosis, Isolated 4 SCL059 IS4
Scoliosis, Isolated 5 SCL060 IS5
Scorpion Envenomation SCR039
Scotoma SCT002
Scott Syndrome SCT005 SCTS
Scrapie SCR011
Scrotal Carcinoma SCR016
Scrotum Paget's Disease SCR005
Scrub Typhus SCR008
Sea-Blue Histiocyte Disease SBL008 SBHD
Sebaceous Adenocarcinoma SBC011
Sebaceous Adenoma SBC009
Sebaceous Gland Disease SBC017
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 10 SCK038 SCKL10
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
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
Second-Degree Atrioventricular Block SCN049
Secretory Diarrhea SCR003
Secretory Meningioma SCR001
Sedoheptulokinase Deficiency SDH011 SHPKD
Segawa Syndrome, Autosomal Recessive SGW002 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, 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 BFIC4
Seizures, Benign Familial Infantile, 5 SZR020 BFIS5
Seizures, Benign Familial Neonatal, 1 SZR022 BFNS1
Seizures, Benign Familial Neonatal, 2 SZR023 BFNS2
Seizures, Cortical Blindness, and Microcephaly Syndrome SZR027 SCBMS
Seizures, Scoliosis, and Macrocephaly Syndrome SZR018 SSMS
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance SZR026 SESAMES
Selection of Therapeutic Option in Colorectal Cancer SLC026
Selective Ige Deficiency Disease SLC002
Selective Igg Deficiency Disease SLC004
Selective Immunoglobulin Deficiency Disease SLC007
Self-Healing Papular Mucinosis SLF008
Self-Improving Collodion Baby SLF015 SHCB
Sella Turcica Neoplasm SLL002
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
Senile Plaque Formation SNL009
Senior-Boichis Syndrome SNR014
Senior-Loken Syndrome 1 SNR003 SLSN1
Senior-Loken Syndrome 3 SNR011 SLSN3
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
Sennetsu Fever SNN001
Sensorineural Hearing Loss SNS001
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis SNS008 SANDO
Sensory Neuropathy Type 1 SNS009
Sensory Organ Benign Neoplasm SNS004
Sensory Peripheral Neuropathy SNS003
Separation Anxiety Disorder SPR012
Sepsis in Premature Infants SPS090
Septate Vagina SPT015
Septic Arthritis SPT004
Septicemic Plague SPT002
Septooptic Dysplasia SPT006 SOD
Septopreoptic Holoprosencephaly SPT016
Serine Deficiency SRN001
Serotonin Syndrome SRT004
Serous Cystadenocarcinoma SRS001
Serous Labyrinthitis SRS004
Sertoli Cell Tumor SRT002
Sertoli-Leydig Cell Tumor SRT003
Sessile Serrated Polyposis Cancer Syndrome SSS001 SSPCS
Setbp1 Disorder STB003
Severe Acute Respiratory Syndrome SVR001 SARS
Severe Combined Immunodeficiency SVR004 SCID
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation SVR032 NHEJ1-SCID
Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation SVR010 SCIDA
Severe Combined Immunodeficiency, Atypical SVR011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency SVR095 ADASCID
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative SVR096 T B NK SCID
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive SVR098 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 Cutaneous Adverse Reaction SVR097 SJS
Severe Early-Childhood-Onset Retinal Dystrophy SVR058 EOSRD
Severe Early-Onset Axonal Neuropathy Due to Mfn2 Deficiency SVR052
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due to Sh2b1 Deficiency SVR045
Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency SVR099
Severe Intellectual Disability and Progressive Spastic Paraplegia SVR080
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome SVR093
Severe Nonproliferative Diabetic Retinopathy SVR002
Severe Pre-Eclampsia SVR005
Sex Cord-Gonadal Stromal Tumor SXC001
Sex Differentiation Disease SXD001
Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus SXH002
Sexual Disorder SXL003
Sexual Sadism SXL001
Sezary's Disease SZR001
Shaheen Syndrome SHH004 SHNS
Shashi-Pena Syndrome SHS001 SHAPNS
Sheehan Syndrome SHH001
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 Sleeper SHR040
Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans SHR106 SSOAOD
Short Stature with Microcephaly and Distinctive Facies SHR065 SSMF
Short Stature with Nonspecific Skeletal Abnormalities SHR084 SNSK
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities SHR109 SAMS
Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures SHR102 SBIDDS
Short Stature, Developmental Delay, and Congenital Heart Defects SHR103 SDDHD
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies SHR114 SSFSC
Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies SHR112 SHRF
Short Stature, Idiopathic, X-Linked SHR108 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 Stature, Rhizomelic, with Microcephaly, Micrognathia, and Developmental Delay SHR105 SRMMD
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome SHR094
Short Syndrome SHR029 SHORTS
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly SHR074 ATD
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 SRPS4
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 17 with or Without Polydactyly SHR104 SRTD17
Short-Rib Thoracic Dysplasia 18 with Polydactyly SHR113 SRTD18
Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly SHR115 SRTD19
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly SHR067 SRTD2
Short-Rib Thoracic Dysplasia 20 with Polydactyly SHR116 SRTD20
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
Shprintzen-Goldberg Craniosynostosis Syndrome SHP005 SGS
Shrimp Allergy SHR118
Shwachman-Diamond Syndrome 1 SHW006 SDS1
Shwachman-Diamond Syndrome 2 SHW007 SDS2
Shwartzman Phenomenon SHW001
Sialadenitis SLD003
Sialolithiasis SLL001
Sialuria SLR001 SIALURIA
Siberian Tick Typhus SBR002
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
Sigmoid Neoplasm SGM002
Signet Ring Cell Adenocarcinoma SGN002
Silent Myocardial Infarction SLN001
Silent Pituitary Adenoma SLN005
Silicosis SLC006
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
Singleton-Merten Syndrome SNG014
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
Sinusitis SNS014
Sister Chromatid Exchange, Frequency of SST003
Sitosterolemia STS003 STSL
Situs Inversus STS002 SIV
Six2-Related Frontonasal Dysplasia SX2003
Sjogren Syndrome SJG008
Sjogren-Larsson Syndrome SJG002 SLS
Skeletal Defects, Genital Hypoplasia, and Mental Retardation SKL011 SGYMR
Skeletal Dysplasia, San Diego Type SKL009
Skeletal Dysplasias SKL017
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome SKL031
Skeletal Muscle Cancer SKL003
Skeletal Tuberculosis SKL001
Skin Angiosarcoma SKN001
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 Epithelioid Hemangioma SKN010
Skin Fragility-Woolly Hair Syndrome SKN024 SFWHS
Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome SKN061
Skin Granular Cell Tumor SKN009
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
Skin/hair/eye Pigmentation, Variation in, 1 SKN065 BEY2
Skin/hair/eye Pigmentation, Variation in, 10 SKN072
Skin/hair/eye Pigmentation, Variation in, 11 SKN060
Skin/hair/eye Pigmentation, Variation in, 2 SKN067 RHA
Skin/hair/eye Pigmentation, Variation in, 3 SKN068 GEY
Skin/hair/eye Pigmentation, Variation in, 5 SKN066 SHEP5
Skin/hair/eye Pigmentation, Variation in, 6 SKN064 SHEP6
Skin/hair/eye Pigmentation, Variation in, 7 SKN069 SHEP7
Skin/hair/eye Pigmentation, Variation in, 8 SKN070 SHEP8
Skin/hair/eye Pigmentation, Variation in, 9 SKN071 SHEP9
Skraban-Deardorff Syndrome SKR001 SKDEAS
Skull Base Cancer SKL030
Skull Base Meningioma SKL005
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, Autosomal Dominant SLW005 SNCV
Sm-Ahnmd SMH001
Small Cell Cancer of the Lung SML038 SCCL
Small Cell Carcinoma SML001
Small Cell Carcinoma of the Bladder SML031 SCCB
Small Cell Osteogenic Sarcoma SML003
Small Cell Sarcoma SML002
Small Intestinal Sarcoma SML015
Small Intestine Adenocarcinoma SML009
Small Intestine Cancer SML016
Small Intestine Leiomyoma SML006
Small Intestine Leiomyosarcoma SML014
Small Intestine Lymphoma SML008
Small Intestine Neuroendocrine Neoplasm SML004
Smallpox SML019
Smarca4-Deficient Sarcoma of Thorax SMR006
Smith-Kingsmore Syndrome SMT020 SKS
Smith-Lemli-Opitz Syndrome SMT004 SLOS
Smith-Magenis Syndrome SMT008 SMS
Smith-Mccort Dysplasia 1 SMT022 SMC1
Smith-Mccort Dysplasia 2 SMT018 SMC2
Smoking As a Quantitative Trait Locus 1 SMK001 SQTL1
Smoking As a Quantitative Trait Locus 2 SMK002 SQTL2
Smoking As a Quantitative Trait Locus 3 SMK004 SQTL3
Smoldering Myeloma SML011
Smooth Muscle Tumor SMT002
Smouldering Systemic Mastocytosis SML030
Snail Allergy SNL011
Sneddon Syndrome SND002 SNDDS
Social Phobia SCL003
Sodium Channelopathy-Related Small Fiber Neuropathy SDM003
Sodium Serum Level Quantitative Trait Locus 1 SDM005
Soft Tissue Sarcoma SFT003
Solar Retinopathy SLR002
Solid Adenocarcinoma with Mucin Production SLD013
Solitary Bone Cyst SLT009
Solitary Median Maxillary Central Incisor SLT005 SMMCI
Solitary Osseous Plasmacytoma SLT001
Soluble Interleukin-6 Receptor, Serum Level of, Quantitative Trait Locus SLB002
Somatization Disorder SMT001
Somatoform Disorder SMT006
Somatostatinoma SMT003
Sorsby Fundus Dystrophy SRS007 SFD
Sotos Syndrome 1 STS008 SOTOS1
Sotos Syndrome 2 STS007 SOTOS2
Sotos Syndrome 3 STS009 SOTOS3
Space Motion Sickness SPC001
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
Spastic Ataxia 2, Autosomal Recessive SPS142 SPAX2
Spastic Ataxia 3 SPS163
Spastic Ataxia 3, Autosomal Recessive SPS136 SPAX3
Spastic Ataxia 4 SPS214
Spastic Ataxia 4, Autosomal Recessive SPS208 SPAX4
Spastic Ataxia 5 SPS171
Spastic Ataxia 5, Autosomal Recessive SPS212 SPAX5
Spastic Ataxia 8 SPS229
Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy SPS209 SPAX8
Spastic Ataxia, Charlevoix-Saguenay Type SPS150 SACS
Spastic Cerebral Palsy SPS007
Spastic Diplegia SPS003
Spastic Ectropion SPS001
Spastic Entropion SPS002
Spastic Hemiplegia SPS005
Spastic Paralysis, Infantile-Onset Ascending SPS225 IAHSP
Spastic Paraparesis SPS019
Spastic Paraplegia 1 SPS020
Spastic Paraplegia 10 SPS021 SPG10
Spastic Paraplegia 10, Autosomal Dominant SPS117 SPG10
Spastic Paraplegia 11 SPS092 SPG11
Spastic Paraplegia 11, Autosomal Recessive SPS151 SPG11
Spastic Paraplegia 12 SPS022 SPG12
Spastic Paraplegia 12, Autosomal Dominant SPS131 SPG12
Spastic Paraplegia 13 SPS023 SPG13
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 SPG17
Spastic Paraplegia 17, Autosomal Dominant SPS219 SPG17
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 20, Autosomal Recessive SPS222 SPG20
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 SPG27
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 3, Autosomal Dominant SPS215 SPG3
Spastic Paraplegia 30, Autosomal Recessive SPS098 SPG30
Spastic Paraplegia 31 SPS037 SPG31
Spastic Paraplegia 31, Autosomal Dominant SPS148 SPG31
Spastic Paraplegia 32 SPS161 SPG32
Spastic Paraplegia 32, Autosomal Recessive SPS123 SPG32
Spastic Paraplegia 33, Autosomal Dominant SPS113 SPG33
Spastic Paraplegia 34, X-Linked SPS062 SPG34
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
Spastic Paraplegia 4 SPS091 FSP2
Spastic Paraplegia 4, Autosomal Dominant SPS147 SPG4
Spastic Paraplegia 41, Autosomal Dominant SPS115 SPG41
Spastic Paraplegia 42, Autosomal Dominant SPS099 SPG42
Spastic Paraplegia 43, Autosomal Recessive SPS130 SPG43
Spastic Paraplegia 44, Autosomal Recessive SPS096 SPG44
Spastic Paraplegia 45, Autosomal Recessive SPS114 SPG45
Spastic Paraplegia 46, Autosomal Recessive SPS109 SPG46
Spastic Paraplegia 47, Autosomal Recessive SPS095 SPG47
Spastic Paraplegia 48, Autosomal Recessive SPS071 SPG48
Spastic Paraplegia 49, Autosomal Recessive SPS126 SPG49
Spastic Paraplegia 50, Autosomal Recessive SPS103 SPG50
Spastic Paraplegia 51 SPS080 SPG51
Spastic Paraplegia 51, Autosomal Recessive SPS152 SPG51
Spastic Paraplegia 52, Autosomal Recessive SPS122 SPG52
Spastic Paraplegia 53, Autosomal Recessive SPS104 SPG53
Spastic Paraplegia 54, Autosomal Recessive SPS106 SPG54
Spastic Paraplegia 55, Autosomal Recessive SPS119 SPG55
Spastic Paraplegia 56, Autosomal Recessive SPS101 SPG56
Spastic Paraplegia 57, Autosomal Recessive SPS137 SPG57
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, Autosomal Recessive SPS141 SPG61
Spastic Paraplegia 62, Autosomal Recessive SPS227 SPG62
Spastic Paraplegia 63, Autosomal Recessive SPS228 SPG63
Spastic Paraplegia 64, Autosomal Recessive SPS157 SPG64
Spastic Paraplegia 7, Autosomal Recessive SPS128 SPG7
Spastic Paraplegia 72, Autosomal Recessive SPS138 SPG72
Spastic Paraplegia 73, Autosomal Dominant SPS160 SPG73
Spastic Paraplegia 74, Autosomal Recessive SPS156 SPG74
Spastic Paraplegia 75, Autosomal Recessive SPS213 SPG75
Spastic Paraplegia 76, Autosomal Recessive SPS210 SPG76
Spastic Paraplegia 77, Autosomal Recessive SPS206 SPG77
Spastic Paraplegia 78, Autosomal Recessive SPS203 SPG78
Spastic Paraplegia 79, Autosomal Recessive SPS205 SPG79
Spastic Paraplegia 8 SPS013 SPG8
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 and Psychomotor Retardation with or Without Seizures SPS207 SPPRS
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity SPS204 SINO
Spastic Paraplegia, Optic Atrophy, and Neuropathy SPS061 SPOAN
Spastic Paraplegia-Paget Disease of Bone Syndrome SPS188
Spastic Quadriplegia SPS004
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly SPS190 SPATCCM
Spasticity SPS057
Spasticity, Childhood-Onset, with Hyperglycinemia SPS211 SPAHGC
Spatial Visualization, Aptitude for SPT020 VSPA
Specific Bursitis Often of Occupational Origin SPC002
Specific Developmental Disorder SPC003
Specific Granule Deficiency 1 SPC026 SGD1
Specific Granule Deficiency 2 SPC025 SGD2
Specific Language Impairment SPC019
Specific Language Impairment 1 SPC027 SLI1
Specific Language Impairment 2 SPC028 SLI2
Specific Language Impairment 3 SPC029 SLI3
Specific Language Impairment 4 SPC015 SLI4
Specific Language Impairment 5 SPC023 SLI5
Speech and Communication Disorders SPC010
Speech Disorder SPC005
Spermatocele SPR017
Spermatocytoma SPR018
Spermatogenic Failure 1 SPR118 SPGF1
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 15 SPR116 SPGF15
Spermatogenic Failure 16 SPR111 SPGF16
Spermatogenic Failure 17 SPR110 SPGF17
Spermatogenic Failure 18 SPR113 SPGF18
Spermatogenic Failure 19 SPR115 SPGF19
Spermatogenic Failure 2 SPR084 ASG
Spermatogenic Failure 20 SPR114 SPGF20
Spermatogenic Failure 21 SPR112 SPGF21
Spermatogenic Failure 22 SPR124 SPGF22
Spermatogenic Failure 23 SPR125 SPGF23
Spermatogenic Failure 24 SPR127 SPGF24
Spermatogenic Failure 25 SPR128 SPGF25
Spermatogenic Failure 26 SPR129 SPGF26
Spermatogenic Failure 27 SPR130 SPGF27
Spermatogenic Failure 28 SPR131
Spermatogenic Failure 29 SPR132
Spermatogenic Failure 3 SPR086 SPGF3
Spermatogenic Failure 30 SPR133
Spermatogenic Failure 31 SPR134
Spermatogenic Failure 32 SPR135
Spermatogenic Failure 33 SPR136
Spermatogenic Failure 34 SPR137
Spermatogenic Failure 4 SPR089 SPGF4
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, 1 SPR119
Spermatogenic Failure, X-Linked, 2 SPR091 SPGFX2
Spermatogenic Failure, Y-Linked, 1 SPR092
Spermatogenic Failure, Y-Linked, 2 SPR093 SPGFY2
Sperm-Specific Antigen 1 SPR122 FA1
Sphenoid Sinusitis SPH007
Sphenoorbital Meningioma SPH003
Spherocytosis, Type 1 SPH013 SPH1
Spherocytosis, Type 2 SPH014 SPH2
Spherocytosis, Type 3 SPH015 SPH3
Spherocytosis, Type 4 SPH016 SPH4
Spherocytosis, Type 5 SPH017 SPH5
Sphingolipidosis SPH010
Spina Bifida Occulta SPN221
Spinal and Bulbar Muscular Atrophy, X-Linked 1 SPN404 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 with Congenital Bone Fractures 2 SPN380 SMABF2
Spinal Muscular Atrophy with Lower Extremity Predominance SPN423
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy SPN252 SMAPME
Spinal Muscular Atrophy with Respiratory Distress Type 2 SPN278
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 SPN408 HMN6
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 SPN326 DSMA2
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 SPN355 HMN3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 SPN191 DSMA4
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 SPN255 DSMA5
Spinal Muscular Atrophy, Distal, X-Linked 3 SPN188 DSMAX3
Spinal Muscular Atrophy, Facioscapulohumeral Type SPN386
Spinal Muscular Atrophy, Jokela Type SPN267 SMAJ
Spinal Muscular Atrophy, Late-Onset, Finkel Type SPN204 SMAPAD
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant SPN385 SMALED1
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant SPN416 SMALED2
Spinal Muscular Atrophy, Type I SPN393 SMA1
Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures SPN400 SMABF1
Spinal Muscular Atrophy, Type Ii SPN395 SMA2
Spinal Muscular Atrophy, Type Iii SPN394 SMA3
Spinal Muscular Atrophy, Type Iv SPN398 SMA4
Spinal Muscular Atrophy, X-Linked 2 SPN402 SMAX2
Spinal Stenosis SPN027
Spindle Cell Carcinoma SPN032
Spindle Cell Hemangioma SPN012 SCH
Spindle Cell Intraocular Melanoma SPN047
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
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 SCA2
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 SPN101 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 42 SPN383 SCA42
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits SPN424
Spinocerebellar Ataxia 43 SPN372 SCA43
Spinocerebellar Ataxia 44 SPN418 SCA44
Spinocerebellar Ataxia 45 SPN419 SCA45
Spinocerebellar Ataxia 46 SPN420 SCA46
Spinocerebellar Ataxia 47 SPN421 SCA47
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 1 with Axonal Neuropathy SPN335 SCAN1
Spinocerebellar Ataxia Type 19/22 SPN247
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 21 SPN381 SCAR21
Spinocerebellar Ataxia, Autosomal Recessive 22 SPN375 SCAR22
Spinocerebellar Ataxia, Autosomal Recessive 23 SPN377 SCAR23
Spinocerebellar Ataxia, Autosomal Recessive 24 SPN376 SCAR24
Spinocerebellar Ataxia, Autosomal Recessive 25 SPN378 SCAR25
Spinocerebellar Ataxia, Autosomal Recessive 26 SPN384 SCAR26
Spinocerebellar Ataxia, Autosomal Recessive 3 SPN295 SCABD
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 SPN410 SCAN1
Spinocerebellar Ataxia, X-Linked 1 SPN202 SCAX1
Spinocerebellar Ataxia, X-Linked 2 SPN403 SCAX2
Spinocerebellar Ataxia, X-Linked 3 SPN364 SCAX3
Spinocerebellar Ataxia, X-Linked 4 SPN363 SCAX4
Spinocerebellar Ataxia, X-Linked 5 SPN203 SCAX5
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 Hand-Foot Malformation SPL061 SHFM
Split-Foot Malformation with Mesoaxial Polydactyly SPL059 SFMMP
Split-Hand/foot Malformation 1 SPL067 ECD
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive SPL068 SHFM1D
Split-Hand/foot Malformation 2 SPL070 SHFD2
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
Spondylarthropathy SPN119
Spondylitis SPN051
Spondyloarthropathy SPN052
Spondyloarthropathy 1 SPN225 SPDA1
Spondyloarthropathy 2 SPN226 SPDA2
Spondyloarthropathy 3 SPN256 SPDA3
Spondylocarpotarsal Synostosis Syndrome SPN060 SCT
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 6, Autosomal Recessive SPN417 SCDO6
Spondylocostal Dysostosis, Autosomal Recessive SPN081
Spondylodysplastic Ehlers-Danlos Syndrome SPN370 PDS
Spondyloenchondrodysplasia SPN125 SEM
Spondyloenchondrodysplasia with Immune Dysregulation SPN251 SPENCDI
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 SEMDAG
Spondyloepimetaphyseal Dysplasia, Di Rocco Type SPN422 SEMDDR
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type SPN368 SEMDFA
Spondyloepimetaphyseal Dysplasia, Genevieve Type SPN352 SEMDG
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related SPN411 SEMD-MATN3
Spondyloepimetaphyseal Dysplasia, Missouri Type SPN030 MANDP1
Spondyloepimetaphyseal Dysplasia, Shohat Type SPN359 SEMDSH
Spondyloepimetaphyseal Dysplasia, Sponastrime Type SPN248
Spondyloepimetaphyseal Dysplasia, Strudwick Type SPN028 SEMDSTWK
Spondyloepimetaphyseal Dysplasia, X-Linked SPN358 SEMDX
Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration SPN350
Spondyloepiphyseal Dysplasia Congenita SPN008 SEDC
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant SPN300
Spondyloepiphyseal Dysplasia Tarda, X-Linked SPN405 SEDT
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations SPN209 SEDCJD
Spondyloepiphyseal Dysplasia, Kimberley Type SPN189 SEDK
Spondyloepiphyseal Dysplasia, Maroteaux Type SPN391 SEDM
Spondyloepiphyseal Dysplasia, Stanescu Type SPN328 SEDSTN
Spondylolisthesis SPN019
Spondylolysis SPN029
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia SPN208 SMMD
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 SMDAX
Spondylometaphyseal Dysplasia, Corner Fracture Type SPN360 SMDCF
Spondylometaphyseal Dysplasia, Kozlowski Type SPN302 SMDK
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type SPN415 SMDMDM
Spondylometaphyseal Dysplasia, Sedaghatian Type SPN362 SMDS
Spondyloocular Syndrome SPN331 SOS
Spondyloperipheral Dysplasia SPN154 SPD
Spondylosis SPN020
Spongiform Encephalopathy with Neuropsychiatric Features SPN409 SENF
Spongiotic Dermatitis SPN011
Spontaneous Intracranial Hypotension SPN340
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
Squalene Synthase Deficiency SQL002 SQSD
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
Ssr4-Cdg SSR001 CDGIY
St. Louis Encephalitis STL001
Stachybotrys Chartarum STC004
Stankiewicz-Isidor Syndrome STN014 STISS
Stapes Ankylosis with Broad Thumbs and Toes STP011 SABTS
Staphylococcal Scarlet Fever STP007
Staphylococcal Toxic Shock Syndrome STP004
Staphyloenterotoxemia STP002
Stargardt Disease STR022
Stargardt Disease 1 STR084 STGD1
Stargardt Disease 3 STR040 STGD3
Stargardt Disease 4 STR054 STGD4
Stargardt Macular Degeneration STR046 STGD
Startle Epilepsy STR070
Statin Toxicity STT044
Stature As a Quantitative Trait STT048
Stature Quantitative Trait Locus 10 STT056
Stature Quantitative Trait Locus 11 STT057
Stature Quantitative Trait Locus 12 STT058
Stature Quantitative Trait Locus 13 STT059
Stature Quantitative Trait Locus 14 STT060
Stature Quantitative Trait Locus 15 STT061
Stature Quantitative Trait Locus 16 STT062
Stature Quantitative Trait Locus 17 STT063
Stature Quantitative Trait Locus 18 STT064
Stature Quantitative Trait Locus 19 STT065
Stature Quantitative Trait Locus 2 STT049
Stature Quantitative Trait Locus 20 STT066
Stature Quantitative Trait Locus 21 STT067
Stature Quantitative Trait Locus 22 STT068
Stature Quantitative Trait Locus 23 STT069
Stature Quantitative Trait Locus 24 STT070
Stature Quantitative Trait Locus 3 STT050
Stature Quantitative Trait Locus 4 STT051
Stature Quantitative Trait Locus 5 STT052
Stature Quantitative Trait Locus 6 STT046
Stature Quantitative Trait Locus 7 STT053
Stature Quantitative Trait Locus 8 STT054
Stature Quantitative Trait Locus 9 STT055
Status Asthmaticus STT002
Status Epilepticus STT001 SE
Steatitis STT003
Steatocystoma Multiplex STT007 SM
Steatorrhea STT004
Steel Syndrome STL007 STLS
Stereotypic Movement Disorder STR015
Sternum Cancer STR017
Steroid Inherited Metabolic Disorder STR018
Steroid-Induced Glaucoma STR019
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis STV007
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome STV009
Stickler Syndrome STC001
Stickler Syndrome, Type 3 STC007 STL3
Stickler Syndrome, Type I STC015 STL1
Stickler Syndrome, Type I, Nonsyndromic Ocular STC017 DRRD
Stickler Syndrome, Type Ii STC013 STL2
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
Stomatin-Deficient Cryohydrocytosis with Neurologic Defects STM015 SDCHCN
Stomatitis STM007
Stomatocytosis I STM009
Storage Pool Platelet Disease STR089
Stork Bite STR005
Stormorken Syndrome STR081 STRMK
Strabismus STR020
Streptococcal Meningitis STR002
Streptococcal Toxic-Shock Syndrome STR077
Streptococcus Pneumonia STR103
Stress Polycythemia STR007
Striatal Degeneration, Autosomal Dominant 1 STR101 ADSD1
Striatal Degeneration, Autosomal Dominant 2 STR092 ADSD2
Striate Palmoplantar Keratoderma STR096
Striatonigral Degeneration STR001
Striatonigral Degeneration, Childhood-Onset STR093 SNDC
Striatonigral Degeneration, Infantile STR085 SNDI
Striatonigral Degeneration, Infantile, Mitochondrial STR099 MIBSN
Stroke, Ischemic STR067 ISCHSTR
Stromal Dystrophy STR086
Stromal Keratitis STR072
Stromme Syndrome STR094 STROMS
Strongyloidiasis STR008
Struma Ovarii STR021
Sturge-Weber Syndrome STR039 SWS
Stuttering STT041
Stuttering, Familial Persistent, 3 STT036 STUT3
Stuttering, Familial Persistent, 4 STT039 STUT4
Stuve-Wiedemann Syndrome STV003 STWS
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 Myeloid Leukemia SBC004
Subacute Thyroiditis SBC007
Subclavian Artery Aneurysm SBC002
Subclavian Steal Syndrome SBC014
Subcorneal Pustular Dermatosis SBC012
Subcortical Arteriosclerotic Encephalopathy SBC025
Subcutaneous Mycosis SBC019
Subcutaneous Panniculitis-Like T-Cell Lymphoma SBC024 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 SCC011 SCOTD
Sucrase-Isomaltase Deficiency, Congenital SCR037 CSID
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
Sulfamethoxazole Allergy SLF017
Sulfhemoglobinemia SLF001
Sulfite Oxidase Deficiency, Isolated SLF014 ISOD
Sulfonamide Allergy SLF016
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 SPR126 SCDS
Supernumerary Der(22)t(8 SPR123
Supine Hypotensive Syndrome SPN031
Suppression Amblyopia SPP007
Suppression of Tumorigenicity 12 SPP011 PAC1
Suppressor of Tumorigenicity 3 SPP010 ST3
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, 1 SPR120 PSNP1
Supranuclear Palsy, Progressive, 2 SPR049 PSNP2
Supranuclear Palsy, Progressive, 3 SPR048 PSNP3
Suprasellar Meningioma SPR011
Supratentorial Cancer SPR024
Supratentorial Primitive Neuroectodermal Tumor SPR008 PNET
Supravalvular Aortic Stenosis SPR004 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
Sutton Disease 2 STT009
Sveinsson Chorioretinal Atrophy SVN002 SCRA
Swayback SWY001
Sweat Gland Cancer SWT002
Sweat Gland Disease SWT003
Sweeney-Cox Syndrome SWN003 SWCOS
Swine Influenza SWN001
Sydenham Chorea SYD002
Sympathetic Ophthalmia SYM002
Symphalangism, Proximal, 1a SYM022 SYM1A
Symphalangism, Proximal, 1b SYM019 SYM1B
Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers SYM015
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 VVS
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 Intellectual Disability SYN057
Syndromic X-Linked Intellectual Disability SYN064
Syndromic X-Linked Intellectual Disability Cabezas Type SYN092 MRSS
Syndromic X-Linked Intellectual Disability Siderius Type SYN079
Syndromic X-Linked Intellectual Disability Snyder Type SYN089 SRS
Syndromic X-Linked Intellectual Disability Type 10 SYN078
Synesthesia SYN041
Syngnathia SYN075
Synostoses, Tarsal, Carpal, and Digital SYN086
Synostosis SYN005
Synovial Chondromatosis SYN031
Synovitis SYN007
Synovium Cancer SYN008
Synpolydactyly SYN012 SPD
Synpolydactyly 1 SYN084 SPD1
Synpolydactyly 2 SYN088 SPD2
Synpolydactyly 3 SYN040 SPD3
Synucleinopathy SYN058
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 15 SYS067
Systemic Lupus Erythematosus 16 SYS061 SLEB16
Systemic Lupus Erythematosus 2 SYS038 SLEB2
Systemic Lupus Erythematosus 3 SYS046 SLEB3
Systemic Lupus Erythematosus 4 SYS051 SLEB4
Systemic Lupus Erythematosus 5 SYS053 SLEB5
Systemic Lupus Erythematosus 6 SYS069 SLEB6
Systemic Lupus Erythematosus 7 SYS047 SLEB7
Systemic Lupus Erythematosus 8 SYS048 SLEB8
Systemic Lupus Erythematosus 9 SYS041 SLEB9
Systemic Lupus Erythematosus with Hemolytic Anemia 1 SYS068 SLEH1
Systemic Lupus Erythematosus with Nephritis 1 SYS056 SLEN1
Systemic Lupus Erythematosus with Nephritis 2 SYS050 SLEN2
Systemic Lupus Erythematosus with Nephritis 3 SYS054 SLEN3
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
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