Disease Name Symbol Acronym
Saal Bulas Syndrome SLB001
Sabinas Brittle Hair Syndrome SBN004
Saccharopinuria SCC002
Sackey Sakati Aur Syndrome SCK006
Sacral Agenesis with Vertebral Anomalies SCR035 SAVA
Sacral Defect with Anterior Meningocele SCR020 SDAM
Sacral Hemangiomas Multiple Congenital Abnormalities SCR021
Sacral Meningocele Conotruncal Heart Defects SCR022
Sacral Nerve Root Cysts SCR027
Sacral Plexopathy SCR023
Sacral Spinal Canal and Spinal Cord Meningioma SCR007
Sacrococcygeal Teratoma SCR024
Sacrum Chordoma SCR036
Saethre-Chotzen Syndrome STH001 SCS
Sagittal Sinus Thrombosis SGT001
Sagliker Syndrome SGL002
Saito Kuba Tsuruta Syndrome STK001
Sakoda Complex SKD001
Salcedo Syndrome SLC010
Salih Myopathy SLH001 SALMY
Salivary Duct Calculi SLV024
Salivary Gland Adenoma, Pleomorphic SLV025 PSA
Salivary Gland Cancer, Adult SLV006
Salivary Gland Cancer, Childhood SLV007
Salivary Gland Carcinoma SLV026
Salivary Gland Disease SLV003
Salivary Gland Type Cancer of the Breast SLV014
Salivary Substance, Clostridium Botulinum Type SLV023
Sall4-Related Disorders SLL004
Salla Disease SLL003 SD
Salmonellosis SLM003
Salpingitis SLP003
Salpingitis Isthmica Nodosa SLP002
Salpingo-Oophoritis SLP004
Salt and Pepper Developmental Regression Syndrome SLT014 SPDRS
Salt and Pepper Syndrome SLT013
Samd9l-Related Ataxia-Pancytopenia Syndrome SMD011
Sammartino Decreccio Syndrome SMM001
Samson Gardner Syndrome SMS001
Samson Viljoen Syndrome SMS002
Sanderson Fraser Syndrome SND003
Sandhaus Ben-Ami Syndrome SND004
Sandhoff Disease SND001 GM2G2
Sandifer Syndrome SND005
Santos Mateus Leal Syndrome SNT001
Santos Syndrome SNT006
Sapho Syndrome SPH001
Sarcocystosis SRC011
Sarcoid Meningitis SRC006
Sarcoidosis 1 SRC025 SS1
Sarcoidosis 2 SRC023 SS2
Sarcoidosis 3 SRC024 SS3
Sarcoma SRC014
Sarcoma of Cervix Uteri SRC029
Sarcoma, Synovial SRC027
Sarcomatoid Basal Cell Carcinoma SRC003
Sarcomatoid Mesothelioma SRC001
Sarcomatoid Penile Squamous Cell Carcinoma SRC005
Sarcomatoid Renal Cell Carcinoma SRC002
Sarcomatoid Squamous Cell Skin Carcinoma SRC008
Sarcomatoid Transitional Cell Carcinoma SRC007
Sarcomatoid Uterine Corpus Endometrioid Adenocarcinoma SRC012
Sarcomatosis SRC009
Sarcomatosis of the Meninges SRC010
Sarcomatous Intrahepatic Cholangiocarcinoma SRC004
Sarcosinemia SRC015 SARCOS
Satb2-Associated Syndrome STB002 SAS
Satoyoshi Syndrome STY001
Saul Wilkes Stevenson Syndrome SLW002
Saul-Wilson Syndrome SLW006 SWILS
Say Barber Miller Syndrome SYB001
Say Carpenter Syndrome SYC001
Say Syndrome SYS006
Say-Field-Coldwell Syndrome SYF001
Sc Phocomelia Syndrome SCP001 SCPS
Sc(1) Trait of Saliva SC1001
Scabies SCB001
Scalp Defects and Postaxial Polydactyly SCL051
Scalp Dermatosis SCL001
Scalp Syndrome SCL044
Scalp-Ear-Nipple Syndrome SCL046 SENS
Scaphocephaly, Maxillary Retrusion, and Mental Retardation SCP007 FSPC
Scapula, Contour of Vertebral Border of SCP011
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 SCPNK
Scarf Syndrome SCR025
Scarlet Fever SCR015
Scarring in Glaucoma Filtration Surgical Procedures SCR032
Scedosporiosis SCD003
Schaaf-Yang Syndrome SCH071 SHFYNG
Schaap Taylor Baraitser Syndrome SCH020
Schaefer Stein Oshman Syndrome SCH021
Scheie Syndrome SCH036 MPS1S
Scheuermann Disease SCH072
Schilbach-Rott Syndrome SCH055 BRSS
Schimke Immunoosseous Dysplasia SCH016 SIOD
Schimke X-Linked Mental Retardation Syndrome SCH022
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
Schisis Association SCH025
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 SCZD10
Schizophrenia 11 SCH086
Schizophrenia 12 SCH045
Schizophrenia 13 SCH053 SCZD13
Schizophrenia 14 SCH052
Schizophrenia 15 SCH056 SCZD15
Schizophrenia 16 SCH061 SCZD16
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
Schlegelberger Grote Syndrome SCH028
Schneckenbecken Dysplasia SCH030 SHNKND
Schneiderian Carcinoma SCH010
Schnitzler Syndrome SCH002
Schnyder Corneal Dystrophy SCH076 SCCD
Scholte Syndrome SCH031 SHLTS
Schopf-Schulz-Passarge Syndrome SCH038 SSPS
Schrander-Stumpel Theunissen Hulsmans Syndrome SCH032
Schuurs-Hoeijmakers Syndrome SCH074 SHMS
Schwannian Stroma-Rich and Stroma-Poor Composite Ganglioneuroblastoma SCH005
Schwannoma of Jugular Foramen SCH006
Schwannoma of Twelfth Cranial Nerve SCH001
Schwannoma of Ureter SCH013
Schwannomatosis 1 SCH077 SWNTS1
Schwannomatosis 2 SCH088 SWNTS2
Schwartz Cohen-Addad Lambert Syndrome SCH034
Schwartz-Jampel Syndrome, Type 1 SCH068 SJS1
Sciatic Neuropathy SCT001
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities SCM002
Scirrhous Adenocarcinoma SCR009
Scleral Disease SCL013
Scleral Staphyloma SCL014
Scleredema SCL022
Scleredema Adultorum SCL002
Scleritis SCL015
Sclerocornea SCL047
Sclerocornea, Autosomal Dominant SCL053
Scleroderma, Familial Progressive SCL052
Scleromalacia Perforans SCL008
Scleromyxedema SCL025
Scleromyxedema Without Monoclonal Gammopathy SCL040
Scleroperikeratitis SCL005
Sclerosing Adenosis of Breast SCL012
Sclerosing Breast Papilloma SCL010
Sclerosing Cholangitis SCL009
Sclerosing Cholangitis, Neonatal SCL056 NSC
Sclerosing Hemangioma SCL017
Sclerosing Hepatic Carcinoma SCL007
Sclerosing Keratitis SCL011
Sclerosing Liposarcoma SCL004
Sclerosing Mucoepidermoid Carcinoma with Eosinophilia SCL043 SMECE
Sclerosing Perineurioma SCL041
Sclerosteosis SCL048 SOST
Sclerosteosis 1 SCL045 SOST1
Sclerosteosis 2 SCL042 SOST2
Scn1a Seizure Disorders SCN067
Scn1a-Related Seizure Disorders SCN009
Scn2a Related Disorders SCN063
Scn8a Encephalopathy SCN061
Scn8a-Related Epilepsy with Encephalopathy SCN060
Scn9a-Related Inherited Erythromelalgia SCN010
Scoliosis SCL018
Scoliosis, Arachnodactyly, and Blindness SCL050
Scoliosis, Isolated 1 SCL057 IS1
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 Bryant Graham Syndrome SCT004
Scott Syndrome SCT005 SCTS
Scrapie SCR011
Screw Worm Infectious Disease SCR006
Scrotal Angioma SCR010
Scrotal Carcinoma SCR016
Scrotum Basal Cell Carcinoma SCR014
Scrotum Melanoma SCR012
Scrotum Neoplasm SCR017
Scrotum Paget's Disease SCR005
Scrotum Squamous Cell Carcinoma SCR013
Scrub Typhus SCR008
Sea-Blue Histiocyte Disease SBL008 SBHD
Seaver Cassidy Syndrome SVR009
Sebaceous Adenocarcinoma SBC011
Sebaceous Adenoma SBC009
Sebaceous Basal Cell Carcinoma SBC013
Sebaceous Breast Carcinoma SBC008
Sebaceous Gland Disease SBC017
Sebaceous Gland Hyperplasia, Familial Presenile SBC022
Sebaceous Gland Neoplasm SBC018
Seborrhea-Like Dermatitis with Psoriasiform Elements SBR007 SLDP
Seborrheic Dermatitis SBR004
Seborrheic Infantile Dermatitis SBR001
Secernentea Infections SCR026
Seckel Like Syndrome Majoor-Krakauer Type SCK007
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
Second Metatarsal-Metacarpal Syndrome SCN065
Secondary Acute Transverse Myelitis SCN040
Secondary Adrenal Insufficiency SCN052
Secondary Avascular Necrosis SCN080
Secondary Central Precocious Puberty SCN039
Secondary Corneal Edema SCN003
Secondary Early-Onset Glaucoma SCN083
Secondary Early-Onset Glaucoma of Genetic Origin SCN084
Secondary Ectropion SCN085
Secondary Erythromelalgia SCN066
Secondary Glomerular Disease SCN053
Secondary Hemophagocytic Lymphohistiocytosis SCN069
Secondary Hypereosinophilic Syndrome SCN042 HES-R
Secondary Hyperparathyroidism SCN007
Secondary Hyperparathyroidism of Renal Origin SCN001
Secondary Hypertrophic Osteoarthropathy SCN005
Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion SCN062
Secondary Interstitial Lung Disease in Childhood and Adulthood SCN079
Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Connective Tissue Disease SCN068
Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Metabolic Disease SCN071
Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Disease SCN072
Secondary Interstitial Lung Disease in Childhood and Adulthood Associated with a Systemic Vasculitis SCN070
Secondary Interstitial Lung Disease Specific to Adulthood Associated with a Systemic Disease SCN078
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Connective Tissue Disease SCN074
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Granulomatous Disease SCN076
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Metabolic Disease SCN077
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Disease SCN073
Secondary Interstitial Lung Disease Specific to Childhood Associated with a Systemic Vasculitis SCN075
Secondary Intestinal Lymphangiectasia SCN043
Secondary Lacrimal Atrophy SCN002
Secondary Neonatal Autoimmune Disease SCN081
Secondary Non-Traumatic Avascular Necrosis SCN050
Secondary Polyarteritis Nodosa SCN055
Secondary Progressive Multiple Sclerosis SCN036 SPMS
Secondary Pulmonary Alveolar Proteinosis SCN051
Secondary Pulmonary Hemosiderosis SCN047
Secondary Sclerosing Cholangitis SCN059
Secondary Short Bowel Syndrome SCN046
Secondary Syphilis SCN006
Secondary Syringomyelia SCN048
Secondary Vasculitis SCN082
Secondary Vitreoretinal Degeneration SCN004
Second-Degree Atrioventricular Block SCN049
Secretory Component Deficiency SCR040
Secretory Diarrhea SCR003
Secretory Diarrhea, Myopathy, and Deafness SCR042
Secretory Meningioma SCR001
Secretory Uterine Corpus Endometrioid Adenocarcinoma SCR004
Sedoheptulokinase Deficiency SDH011 SHPKD
Segawa Syndrome, Autosomal Recessive SGW002 ARSEGS
Segmental Dystonia SGM008
Segmental Odontomaxillary Dysplasia SGM006
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome SGM010
Segmental Progressive Overgrowth Syndrome with Fibroadipose Hyperplasia SGM005
Segmentation Syndrome 1 SGM003 SGM1
Seizure Disorder SZR006
Seizures, Benign Familial Infantile, 1 SZR014 BFIS1
Seizures, Benign Familial Infantile, 2 SZR016 BFIS2
Seizures, Benign Familial Infantile, 3 SZR007 BFIS3
Seizures, Benign Familial Infantile, 4 SZR011 BFIS4
Seizures, Benign Familial Infantile, 5 SZR020 BFIS5
Seizures, Benign Familial Neonatal, 1 SZR022 BFNS1
Seizures, Benign Familial Neonatal, 2 SZR023 BFNS2
Seizures, Benign Familial Neonatal, 3 SZR025 BFNS3
Seizures, Benign Familial Neonatal, Autosomal Recessive SZR024
Seizures, Cortical Blindness, and Microcephaly Syndrome SZR027 SCBMS
Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome SZR028 SSMS
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance SZR026 SESAMES
Selection of Therapeutic Option in Colorectal Cancer SLC026
Selection of Therapeutic Option in Melanoma SLC040
Selective Igd Deficiency Disease SLC001
Selective Ige Deficiency Disease SLC002
Selective Igg Deficiency Disease SLC004
Selective Igm Deficiency Disease SLC003 SIGMD
Selective Immunoglobulin Deficiency Disease SLC007
Selenium Poisoning SLN002
Self-Healing Papular Mucinosis SLF008
Self-Improving Collodion Baby SLF015 SHCB
Selig Benacerraf Greene Syndrome SLG001
Sella Turcica Neoplasm SLL002
Sella Turcica, Bridged SLL008
Semantic Agnosia SMN003
Semantic Dementia SMN008
Semicircular Canal Dehiscence Syndrome SMC003
Semilobar Holoprosencephaly SML028
Seminal Vesicle Acute Gonorrhea SMN001
Seminal Vesicle Adenocarcinoma SMN005
Seminal Vesicle Chronic Gonorrhea SMN004
Seminal Vesicle Cystadenoma SMN002
Seminal Vesicle Tumor SMN006
Seminoma SMN007
Sener Syndrome SNR002
Sengers Syndrome SNG007 MTDPS10
Senile Angioma SNL003
Senile Atrophy of Choroid SNL006
Senile Cataract SNL007
Senile Degeneration of Brain SNL005
Senile Ectropion SNL004
Senile Entropion SNL001
Senile Plaque Formation SNL009
Senile Reticular Retinal Degeneration SNL002
Senior-Boichis Syndrome SNR014
Senior-Loken Syndrome 1 SNR003 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
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth SNS025
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome SNS024
Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis SNS008 SANDO
Sensory Organ Benign Neoplasm SNS004
Sensory Peripheral Neuropathy SNS003
Sensory System Cancer SNS023
Seow Najjar Syndrome SWN002
Separation Anxiety Disorder SPR012
Sepsis in Premature Infants SPS090
Septal Myocardial Infarction SPT001
Septate Uterus SPT023
Septate Vagina SPT015
Septic Arthritis SPT004
Septic Myocarditis SPT003
Septicemic Plague SPT002
Septooptic Dysplasia SPT006 GHDPA
Septo-Optic Dysplasia Spectrum SPT019 SOD
Septopreoptic Holoprosencephaly SPT016
Seres-Santamaria Arimany Muniz Syndrome SRS008
Serine Deficiency SRN001
Serotonin Syndrome SRT004
Serotonin-Producing Neuroendocrine Tumor of Pancreas SRT005
Serous Conjunctivitis Except Viral SRS003
Serous Cystadenocarcinoma SRS001
Serous Glue Ear SRS002
Serous Labyrinthitis SRS004
Serous or Mucinous Cystadenoma of Childhood SRS013
Serous Surface Papilloma SRS005
Serpiginous Choroiditis SRP002
Serpinopathy SRP007
Serpinopathy with Loss of Serpin Function SRP008
Serpinopathy with Toxic Serpin Polymerization SRP006
Sertoli Cell Tumor SRT002
Sertoli-Leydig Cell Tumor SRT003
Sessile Serrated Polyposis Cancer Syndrome SSS001 SSPCS
Setariasis STR012
Setbp1 Disorder STB003 MRD29
Setting-Sun Phenomenon, Familial Benign STT047
Severe Acute Respiratory Syndrome SVR001 SARS
Severe Combined Immunodeficiency SVR004 SCID
Severe Combined Immunodeficiency Due to Carmil2 Deficiency SVR102
Severe Combined Immunodeficiency Due to Ikk2 Deficiency SVR074
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 SCIDX1
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 Immune-Mediated Enteropathy SVR055
Severe Infantile Axonal Neuropathy SVR017
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia SVR086
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome SVR082
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome SVR093
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome SVR061
Severe Lateral Tibial Bowing with Short Stature SVR046
Severe Nonproliferative Diabetic Retinopathy SVR002
Severe Pre-Eclampsia SVR005
Severe X-Linked Intellectual Disability, Gustavson Type SVR060 GUST
Sex Chromosome Disorder of Sex Development SXC004
Sex Cord-Gonadal Stromal Tumor SXC001
Sex Cord-Stromal Benign Neoplasm SXC003
Sex Development Disorder SXD002 DSD
Sex Hormone-Binding Globulin Circulating Level Quantitative Trait Locus SXH002 SXGQTL1
Sex-Chromosome Anomaly SXC007
Sex-Chromosome Number Anomaly SXC005
Sex-Chromosome Structural Anomaly SXC006
Sexual Disorder SXL003
Sexual Masochism SXL002
Sexual Sadism SXL001
Sezary's Disease SZR001
Sgce Myoclonus-Dystonia SGC002 DYT11
Shaheen Syndrome SHH004 SHNS
Shaken Baby Syndrome SHK001
Shapiro Syndrome SHP003
Shashi-Pena Syndrome SHS001 SHAPNS
Sheehan Syndrome SHH001
Shigellosis SHG001
Shipyard Eye SHP001 EKC
Shone Complex SHN001
Short Bowel Syndrome SHR001
Short Fifth Metacarpals-Insulin Resistance Syndrome SHR095
Short Limb Dwarf Lethal Colavita Kozlowski Type SHR007
Short Qt Syndrome SHR030 SQTS
Short Qt Syndrome 1 SHR031 SQT1
Short Qt Syndrome 2 SHR032 SQT2
Short Qt Syndrome 3 SHR033 SQT3
Short Rib-Polydactyly Syndrome SHR044
Short Rib-Polydactyly Syndrome, Majewski Type SHR120
Short Sleeper SHR040
Short Stature and Advanced Bone Age, with or Without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans SHR106 SSOAOD
Short Stature and Facioauriculothoracic Malformations SHR111
Short Stature Deafness Neutrophil Dysfunction SHR016
Short Stature Syndrome, Brussels Type SHR023
Short Stature with Microcephaly and Distinctive Facies SHR065 SSMCF
Short Stature with Nonspecific Skeletal Abnormalities SHR084 SNSK
Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome SHR049
Short Stature Wormian Bones Dextrocardia SHR027
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis SHR119 SSASKS
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, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting SHR110
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-Craniofacial Anomalies-Genital Hypoplasia Syndrome SHR089
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome SHR090
Short Stature-Obesity Syndrome SHR107 SSOS
Short Syndrome SHR029 SHORTS
Short Tarsus with Absence of Lower Eyelashes SHR097 STALE
Short-Lasting Unilateral Neuralgiform Headache Attacks with Cranial Autonomic Symptoms SHR117 SUNA
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency SHR096
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly SHR074 SRTD1
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 SRTD12
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 Girdle Defect Mental Retardation Familial SHL003
Shoulder Impingement Syndrome SHL001
Shox Deficiency Disorders SHX003
Shprintzen Omphalocele Syndrome SHP004
Shprintzen-Goldberg Craniosynostosis Syndrome SHP005 SGS
Shrimp Allergy SHR118
Shukla-Vernon Syndrome SHK002 SHUVER
Shwachman-Diamond Syndrome 1 SHW006 SDS1
Shwachman-Diamond Syndrome 2 SHW007 SDS2
Shwachman-Diamond Type Metaphyseal Dysplasia SHW005
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
Sickle Cell Disease and Related Diseases SCK049
Sickle Cell Disease Associated with an Other Hemoglobin Anomaly SCK036
Sickle Delta Beta Thalassemia SCK008
Sideroblastic Anemia SDR003
Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay SDR009 SIFD
Siderosis SDR002
Siderosis of Eye SDR001
Siegler Brewer Carey Syndrome SGL001
Sifrim-Hitz-Weiss Syndrome SFR001 SIHIWES
Sigmoid Disease SGM001
Sigmoid Neoplasm SGM002
Signet Ring Basal Cell Carcinoma SGN001
Signet Ring Cell Adenocarcinoma SGN002
Signet Ring Cell Intrahepatic Cholangiocarcinoma SGN003
Signet Ring Cell Variant Cervical Mucinous Adenocarcinoma SGN004
Signet Ring Lung Adenocarcinoma SGN005
Silengo Lerone Pelizza Syndrome SLN003
Silent Myocardial Infarction SLN001
Silent Pituitary Adenoma SLN005
Silent Sinus Syndrome SLN006
Silicosiderosis SLC011
Silicosis SLC006
Sillence Syndrome SLL006
Silo Filler's Disease SLF002
Silver-Russell Syndrome SLV001 SRS
Silver-Russell Syndrome Due to 11p15 Microduplication SLV018
Silver-Russell Syndrome Due to 7p11.2p13 Microduplication SLV016
Silver-Russell Syndrome Due to a Point Mutation SLV020
Silver-Russell Syndrome Due to an Imprinting Defect of 11p15 SLV022
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11 SLV015
Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 7 SLV019
Simian B Virus Infection SMN009
Simosa Craniofacial Syndrome SMS004
Simple Chronic Conjunctivitis SMP002
Simple Cryoglobulinemia SMP006
Simple Partial Epilepsy SMP001
Simple Vascular Malformation SMP008
Simpson-Golabi-Behmel Syndrome SMP003 DGSX
Simpson-Golabi-Behmel Syndrome, Type 1 SMP007 SGBS1
Simpson-Golabi-Behmel Syndrome, Type 2 SMP005 SGBS2
Simultanagnosia SML010
Sin3a-Related Intellectual Disability Syndrome SN3001
Sinding-Larsen-Johansson Disease SND010
Singh Chhaparwal Dhanda Syndrome SNG001
Single Ventricular Heart SNG003
Single-Organ Polyarteritis Nodosa SNG013
Singleton-Merten Syndrome SNG014
Singleton-Merten Syndrome 1 SNG011 SGMRT1
Singleton-Merten Syndrome 2 SNG012 SGMRT2
Sinoatrial Node Disease SNT005
Sinoatrial Node Dysfunction and Deafness SNT004 SANDD
Sino-Auricular Heart Block SNR013
Sinonasal Undifferentiated Carcinoma SNN002 SNUC
Sinus Cancer SNS011
Sinus Node Disease and Myopia SNS012
Sirenomelia SRN002
Sister Chromatid Exchange, Frequency of SST003
Sitosterolemia STS003 STSL
Situs Inversus STS002 SIV
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas STS005
Six2-Related Frontonasal Dysplasia SX2003
Sjogren Syndrome SJG008
Sjogren-Larsson Syndrome SJG002 SLS
Sjogren-Larsson-Like Ichthyosis Without Cns or Eye Involvement SJG009
Sjogren-Larsson-Like Syndrome SJG003
Sjogren's Syndrome, Juvenile, Secondary to Autoimmune Disease SJG004
Skeletal Defects, Genital Hypoplasia, and Mental Retardation SKL011 SGYMR
Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal SKL027
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification SKL026
Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa SKL028
Skeletal Dysplasia, San Diego Type SKL009
Skeletal Dysplasias SKL017
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome SKL031
Skeletal Muscle Cancer SKL003
Skeletal Muscle Disease SKL032
Skeletal Muscle Neoplasm SKL002
Skeletal Tuberculosis SKL001
Skeletal-Extraskeletal Angiomatosis SKL024
Skin Amelanotic Melanoma SKN004
Skin Angiosarcoma SKN001
Skin Atrophy SKN005
Skin Benign Neoplasm SKN013
Skin Cancer, Non Melanoma, Childhood SKN026
Skin Carcinoma SKN015
Skin Carcinoma in Situ SKN012
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 Glomangioma SKN017
Skin Glomus Tumor SKN008
Skin Granular Cell Tumor SKN009
Skin Hemangioma SKN018
Skin Lipoma SKN002
Skin Melanoma SKN019
Skin Meningioma SKN007
Skin Papilloma SKN020
Skin Pilomatrix Carcinoma SKN011
Skin Sarcoidosis SKN006
Skin Sarcoma SKN021
Skin Squamous Cell Carcinoma SKN022
Skin Tag SKN023
Skin/hair/eye Pigmentation, Variation in, 1 SKN065 SHEP1
Skin/hair/eye Pigmentation, Variation in, 10 SKN072 SHEP10
Skin/hair/eye Pigmentation, Variation in, 11 SKN060 SHEP11
Skin/hair/eye Pigmentation, Variation in, 2 SKN067 SHEP2
Skin/hair/eye Pigmentation, Variation in, 3 SKN068 SHEP3
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
Slate Pneumoconiosis SLT003
Slavotinek Pike Mills Hurst Syndrome SLV009
Slc12a5-Related Epilepsy of Infancy with Migrating Focal Seizures SLC039
Slc35a2-Congenital Disorder of Glycosylation SLC037
Slc39a14 Deficiency SLC035
Slc4a1-Associated Distal Renal Tubular Acidosis SLC024
Slc6a3-Related Dopamine Transporter Deficiency Syndrome SLC036
Sleep Apnea SLP006
Sleep Disorder SLP005
Sleeping Sickness SLP001
Slender Bone Dysplasia SLN010
Slipped Capital Femoral Epiphysis SLP010
Slipped Femoral Capital Epiphyses SLP011
Slow-Channel Congenital Myasthenic Syndrome SLW003 SCCMS
Slowed Nerve Conduction Velocity, Autosomal Dominant SLW005 SNCV
Slti Salem Syndrome SLT006
Sm-Ahnmd SMH001
Small Bowel Fibrosarcoma SML012
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 L-Cell Glucagon-Like Peptide Producing Tumor SML013
Small Intestinal Sarcoma SML015
Small Intestinal Vasoactive Intestinal Peptide Producing Tumor SML007
Small Intestine Adenocarcinoma SML009
Small Intestine Benign Neoplasm SML039
Small Intestine Cancer SML016
Small Intestine Cancer, Childhood SML024
Small Intestine Carcinoid Neuroendocrine Tumor SML035
Small Intestine Diverticulitis SML005
Small Intestine Leiomyoma SML006
Small Intestine Leiomyosarcoma SML014
Small Intestine Lymphoma SML008
Small Intestine Neuroendocrine Neoplasm SML004
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
Smoldering Systemic Mastocytosis SML040
Smooth Muscle Tumor SMT002
Snail Allergy SNL011
Snakebite Envenomation SNK001
Sneddon Syndrome SND002 SNDNS
Snijders Blok-Campeau Syndrome SNJ002 SNIBCPS
Social Emotional Agnosia SCL006
Social Phobia SCL003
Sodium Aurothiomalate Allergy SDM006
Sodium Channelopathy-Related Small Fiber Neuropathy SDM003
Sodium Serum Level Quantitative Trait Locus 1 SDM005 SSQTL1
Sodium-Potassium-Atpase Activity of Red Cell SDM004
Sodoku Disease SDK001
Soft Palate Cancer SFT002
Soft Tissue Peripheral Neuroepithelioma SFT001
Soft Tissue Sarcoma SFT003
Soft Tissue Sarcoma Childhood SFT004
Sohval Soffer Syndrome SHV002
Solar Retinopathy SLR002
Solar Urticaria SLR005
Solid Adenocarcinoma with Mucin Production SLD013
Solid Pattern Testicular Yolk Sac Tumor SLD001
Solid Pseudopapillary Carcinoma of Pancreas SLD011
Solid Tumor Associated with an Acquired Peripheral Neuropathy SLD014
Solitary Bone Cyst SLT009
Solitary Cyst of Breast SLT004
Solitary Median Maxillary Central Incisor SLT005 SMMCI
Solitary Necrotic Nodule of the Liver SLT015
Solitary Osseous Plasmacytoma SLT001
Solitary Plasmacytoma of Chest Wall SLT002
Solitary Rectal Ulcer Syndrome SLT007
Soluble Interleukin-6 Receptor, Serum Level of, Quantitative Trait Locus SLB002
Somatization Disorder SMT001
Somatoform Disorder SMT006
Somatomammotropinoma SMT017
Somatomedin, Embryonic SMT021
Somatostatinoma SMT003
Sonoda Syndrome SND006
Sorsby Fundus Dystrophy SRS007 SFD
Sost-Related Sclerosing Bone Dysplasias SST002
Sotos Syndrome 1 STS008 SOTOS1
Sotos Syndrome 2 STS007 SOTOS2
Sotos Syndrome 3 STS009 SOTOS3
Sox2-Related Eye Disorders SX2001
Space Motion Sickness SPC001
Sparganosis SPR006
Sparse Hair-Short Stature-Skin Anomalies Syndrome SPR107
Spasmodic Dysphonia SPS016
Spasmodic Dystonia SPS134
Spasmus Nutans SPS087
Spastic Angina with Healthy Coronary Artery SPS017
Spastic Ataxia SPS008 SPAX
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 7 SPS172
Spastic Ataxia 7, Autosomal Dominant SPS191 SPAX7
Spastic Ataxia 8 SPS229
Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy SPS209 SPAX8
Spastic Ataxia 9, Autosomal Recessive SPS233 SPAX9
Spastic Ataxia, Charlevoix-Saguenay Type SPS150 SACS
Spastic Ataxia-Dysarthria Due to Glutaminase Deficiency SPS235
Spastic Cerebral Palsy SPS007
Spastic Diplegia SPS003
Spastic Diplegia and Mental Retardation SPS218
Spastic Diplegia Cerebral Palsy SPS093
Spastic Ectropion SPS001
Spastic Entropion SPS002
Spastic Hemiplegia SPS005
Spastic Monoplegia SPS006
Spastic Paralysis, Infantile-Onset Ascending SPS225 IAHSP
Spastic Paraparesis SPS019
Spastic Paraparesis and Deafness SPS192
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, Autosomal Recessive SPS231 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 SPG3A
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 SPS165
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 80, Autosomal Dominant SPS232 SPG80
Spastic Paraplegia 9 SPS042 SPG9
Spastic Paraplegia 9a, Autosomal Dominant SPS158 SPG9A
Spastic Paraplegia 9b, Autosomal Recessive SPS159 SPG9B
Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation SPS043
Spastic Paraplegia and Evans Syndrome SPS223
Spastic Paraplegia and Psychomotor Retardation with or Without Seizures SPS207 SPPRS
Spastic Paraplegia Facial Cutaneous Lesions SPS045
Spastic Paraplegia Type 49 SPS230 SPG49
Spastic Paraplegia with Associated Extrapyramidal Signs SPS216
Spastic Paraplegia with Myoclonic Epilepsy SPS220
Spastic Paraplegia with Neuropathy and Poikiloderma SPS197
Spastic Paraplegia with Precocious Puberty SPS047
Spastic Paraplegia, Ataxia, and Mental Retardation SPS226 SPAR
Spastic Paraplegia, Epilepsy, and Mental Retardation SPS193 SPEMR
Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity SPS204 SINO
Spastic Paraplegia, Optic Atrophy, and Dementia SPS217
Spastic Paraplegia, Optic Atrophy, and Neuropathy SPS061 SPOAN
Spastic Paraplegia, Optic Atrophy, Microcephaly, and Xy Sex Reversal SPS224
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy SPS196
Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome SPS183 SPEMR
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome SPS184
Spastic Paraplegia-Optic Atrophy-Neuropathy and Spastic Paraplegia-Optic Atrophy-Neuropathy-Related Disorder SPS234
Spastic Paraplegia-Paget Disease of Bone Syndrome SPS188
Spastic Paresis, Glaucoma, and Mental Retardation SPS194
Spastic Pseudosclerosis SPS221
Spastic Quadriplegia SPS004
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation SPS195
Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly SPS190 SPATCCM
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome SPS186
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome SPS189
Spasticity SPS057
Spasticity Multiple Exostoses SPS051
Spasticity, Childhood-Onset, with Hyperglycinemia SPS211 SPAHGC
Spatial Visualization, Aptitude for SPT020 VSPA
Specific Antibody Deficiency SPC022
Specific Antibody Deficiency with Normal Immunoglobulin Concentrations and Normal Numbers of B Cells SPC020
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 Disorder SPC030
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
Specific Learning Disability SPC031
Speech and Communication Disorders SPC010
Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease SPC024
Speech Disorder SPC005
Sperm Protamine P4 SPR117 PRM4
Spermatic Cord Cancer SPR014
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 SPGF2
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 SPGF28
Spermatogenic Failure 29 SPR132 SPGF29
Spermatogenic Failure 3 SPR086 SPGF3
Spermatogenic Failure 30 SPR133 SPGF30
Spermatogenic Failure 31 SPR134 SPGF31
Spermatogenic Failure 32 SPR135 SPGF32
Spermatogenic Failure 33 SPR136 SPGF33
Spermatogenic Failure 34 SPR137 SPGF34
Spermatogenic Failure 35 SPR140 SPGF35
Spermatogenic Failure 36 SPR141 SPGF36
Spermatogenic Failure 37 SPR142 SPGF37
Spermatogenic Failure 38 SPR143 SPGF38
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 SPGFX1
Spermatogenic Failure, X-Linked, 2 SPR091 SPGFX2
Spermatogenic Failure, Y-Linked, 1 SPR092 SPGFY1
Spermatogenic Failure, Y-Linked, 2 SPR093 SPGFY2
Sperm-Specific Antigen 1 SPR122 SSFA1
Sphenocavernous Meningioma SPH002
Sphenoid Sinus Inverted Papilloma SPH005
Sphenoid Sinus Schneiderian Papilloma SPH004
Sphenoid Sinus Squamous Cell Carcinoma SPH006
Sphenoid Sinusitis SPH007
Sphenoidal Sinus Cancer SPH008
Sphenoidal Sinus Neoplasm SPH009
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
Sphingolipidosis with Epilepsy SPH020
Spigelian Hernia-Cryptorchidism Syndrome SPG003
Spina Bifida Aperta SPN237
Spina Bifida Cystica SPN236
Spina Bifida Hypospadias SPN082
Spina Bifida Occulta SPN221
Spinal Accessory Nerve Neoplasm SPN001
Spinal and Bulbar Muscular Atrophy, X-Linked 1 SPN404 SMAX1
Spinal Arachnoiditis SPN354
Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome SPN083
Spinal Canal and Spinal Cord Meningioma SPN039
Spinal Canal Intradural Extramedullary Neoplasm SPN013
Spinal Cancer SPN040
Spinal Chordoma SPN036
Spinal Cord Astrocytoma SPN018
Spinal Cord Dermoid Cyst SPN003
Spinal Cord Disease SPN041
Spinal Cord Ependymoma SPN042
Spinal Cord Glioma SPN043
Spinal Cord Infarction SPN185
Spinal Cord Injury SPN186
Spinal Cord Intramedullary Teratoma SPN002
Spinal Cord Lipoma SPN004
Spinal Cord Lymphoma SPN026
Spinal Cord Melanoma SPN025
Spinal Cord Neuroblastoma SPN022
Spinal Cord Oligodendroglioma SPN007
Spinal Cord Primitive Neuroectodermal Neoplasm SPN045
Spinal Cord Sarcoma SPN024
Spinal Disease SPN369
Spinal Dysplasia, Anhalt Type SPN407
Spinal Intradural Arachnoid Cysts SPN086
Spinal Meninges Cancer SPN005
Spinal Meningioma SPN021
Spinal Multifocal Clear Cell Meningioma SPN023
Spinal Muscular Atrophy SPN046 SMA
Spinal Muscular Atrophy Associated with Central Nervous System Anomaly SPN436
Spinal Muscular Atrophy with Congenital Bone Fractures 2 SPN380 SMABF2
Spinal Muscular Atrophy with Lower Extremity Predominance SPN423
Spinal Muscular Atrophy with Mental Retardation SPN396
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality SPN397
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy SPN252 SMAPME
Spinal Muscular Atrophy with Respiratory Distress Type 2 SPN278
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 SPN408 DSMA1
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 SPN326 DSMA2
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 SPN355 DSMA3
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 SMAX3
Spinal Muscular Atrophy, Facioscapulohumeral Type SPN386
Spinal Muscular Atrophy, Jokela Type SPN267 SMAJ
Spinal Muscular Atrophy, Late-Onset, Finkel Type SPN204 SMAFK
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant SPN385 SMALED1
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant SPN426 SMALED2A
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant SPN428 SMALED2B
Spinal Muscular Atrophy, Ryukyuan Type SPN399
Spinal Muscular Atrophy, Segmental SPN387
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 Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome SPN341
Spinal Polio SPN015
Spinal Shock SPN092
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
Spindle Cell Variant Squamous Cell Breast Carcinoma SPN037
Spindle Epithelial Tumor with Thymus-Like Differentiation Tumor SPN279
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 SCA18
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 SCA42ND
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 48 SPN427 SCA48
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 Dysmorphism SPN113
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy SPN388
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 27 SPN431 SCAR27
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 1 SPN430 SCAN1
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 SPN429 SCAN2
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 SPN432 SCAN3
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 Atrophy SPN187
Spinocerebellar Atrophy with Pupillary Paralysis SPN389
Spinocerebellar Degeneration SPN050
Spinocerebellar Degeneration and Corneal Dystrophy SPN117
Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia SPN356
Spiradenoma SPR013 ES
Spirillary Rat-Bite Fever SPR080
Spirochetes Disease SPR028
Spirurida Infections SPR029
Spitz Nevus SPT007
Spitzoid Melanoma SPT022
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 Hairy Cell Leukemia SPL010
Splenic Manifestation of Leukemia SPL013
Splenic Manifestation of Prolymphocytic Leukemia SPL002
Splenic Marginal Zone Lymphoma SPL004 SMZL
Splenic Sequestration SPL009
Splenic Tuberculosis SPL008
Splenogonadal Fusion Limb Defects Micrognatia SPL017
Splenogonadal Fusion with Limb Defects and Micrognathia SPL054
Splenomegaly SPL018
Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells SPL064
Splenomegaly, Cytopenia, and Vision Loss SPL058
Splenoportal Vascular Anomalies SPL069
Split Hand Split Foot Malformation Autosomal Recessive SPL020
Split Hand Split Foot Nystagmus SPL021 KNS
Split Hand Urinary Anomalies Spina Bifida SPL022
Split Hand/foot Malformation X-Linked SPL023 SHFD2
Split Hand-Foot Malformation SPL061 SHFM
Split Lower Lip SPL065
Split Spinal Cord Malformation SPL051 SSCM
Split-Foot Deformity with Mandibulofacial Dysostosis SPL056
Split-Foot Malformation with Mesoaxial Polydactyly SPL059 SFMMP
Split-Hand and Split-Foot with Hypodontia SPL066
Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts SPL055 KNS
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects SPL057
Split-Hand/foot Malformation 1 SPL067 SHFM1
Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive SPL068 SHFM1D
Split-Hand/foot Malformation 2 SPL070 SHFM2
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 SHFLD1
Split-Hand/foot Malformation with Long Bone Deficiency 2 SPL047 SHFLD2
Spondylarthropathy SPN119
Spondylitis SPN051
Spondyloarthropathy SPN052
Spondyloarthropathy 1 SPN225 SPDA1
Spondyloarthropathy 2 SPN226 SPDA2
Spondyloarthropathy 3 SPN256 SPDA3
Spondylocamptodactyly SPN120
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 with Anal Atresia and Urogenital Anomalies SPN365
Spondylocostal Dysostosis, Autosomal Recessive SPN081
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome SPN339
Spondylodysplastic Dysplasia SPN437
Spondylodysplastic Ehlers-Danlos Syndrome SPN370 SPEDS
Spondyloenchondrodysplasia SPN125 SEM
Spondyloenchondrodysplasia with Immune Dysregulation SPN251 SPENCDI
Spondyloepimetaphyseal Dysplasia Joint Laxity SPN127
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition SPN351 SEMDAD
Spondyloepimetaphyseal Dysplasia with Hypotrichosis SPN132
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 Joint Laxity, Type 3 SPN434 SEMDJL3
Spondyloepimetaphyseal Dysplasia with Multiple Dislocations SPN133
Spondyloepimetaphyseal Dysplasia, Aggrecan Type SPN136 SEMDAG
Spondyloepimetaphyseal Dysplasia, Bieganski Type SPN233
Spondyloepimetaphyseal Dysplasia, Di Rocco Type SPN422 SEMDDR
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type SPN368 SEMDFA
Spondyloepimetaphyseal Dysplasia, Genevieve Type SPN352 SEMDG
Spondyloepimetaphyseal Dysplasia, Irapa Type SPN243 SEMDIT
Spondyloepimetaphyseal Dysplasia, Isidor Type SPN268
Spondyloepimetaphyseal Dysplasia, Krakow Type SPN425 SEMDK
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related SPN411 SEMD-MATN3
Spondyloepimetaphyseal Dysplasia, Micromelic SPN357
Spondyloepimetaphyseal Dysplasia, Missouri Type SPN030 MANDP1
Spondyloepimetaphyseal Dysplasia, Shohat Type SPN359 SEMDSH
Spondyloepimetaphyseal Dysplasia, Sponastrime Type SPN248 SEMDSP
Spondyloepimetaphyseal Dysplasia, Strudwick Type SPN028 SEMDSTWK
Spondyloepimetaphyseal Dysplasia, X-Linked SPN358 SEMDX
Spondyloepimetaphyseal Dysplasia, X-Linked, with Mental Deterioration SPN350
Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia SPN435
Spondyloepiphyseal Dysplasia Congenita SPN008 SEDC
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies SPN406
Spondyloepiphyseal Dysplasia Tarda with Mental Retardation SPN347
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant SPN300
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive SPN401
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type SPN412
Spondyloepiphyseal Dysplasia Tarda, X-Linked SPN405 SEDT
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability SPN346
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations SPN209 SEDCJD
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation SPN344
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy SPN390
Spondyloepiphyseal Dysplasia, Kimberley Type SPN189 SEDK
Spondyloepiphyseal Dysplasia, Kondo-Fu Type SPN433 SEDKF
Spondyloepiphyseal Dysplasia, Maroteaux Type SPN391 SEDM
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness SPN345
Spondyloepiphyseal Dysplasia, Stanescu Type SPN328 SEDSTN
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech SPN141
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium SPN142
Spondylolisthesis SPN019
Spondylolysis SPN029
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness SPN413
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia SPN208 SMMD
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type SPN289 SEMD-SL
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism SPN150
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, Czarny-Ratajczak Type SPN269
Spondylometaphyseal Dysplasia, East African Type SPN414
Spondylometaphyseal Dysplasia, Kozlowski Type SPN302 SMDK
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type SPN415 SMDMDM
Spondylometaphyseal Dysplasia, Sedaghatian Type SPN362 SMDS
Spondylometaphyseal Dysplasia, Type A4 SPN349
Spondylometaphyseal Dysplasia, X-Linked SPN353
Spondyloocular Syndrome SPN331 SOS
Spondyloperipheral Dysplasia SPN154 SPD
Spondylosis SPN020
Spondylosis, Cervical SPN392
Spondylospinal Thoracic Dysostosis SPN155
Spongiform Encephalopathy with Neuropsychiatric Features SPN409 SENF
Spongiotic Dermatitis SPN011
Spontaneous Intracranial Hypotension SPN340
Spontaneous Ocular Nystagmus SPN033
Spontaneous Tension Pneumothorax SPN014
Sporadic Adult-Onset Ataxia of Unknown Etiology SPR067 SAOA
Sporadic Breast Cancer SPR009
Sporadic Fetal Brain Disruption Sequence SPR105
Sporadic Hemiplegic Migraine SPR083 SHM
Sporadic Hyperekplexia SPR097
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Collapsing Glomerulopathy SPR078
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Proliferation SPR073
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Diffuse Mesangial Sclerosis SPR075
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis SPR076
Sporadic Idiopathic Steroid-Resistant Nephrotic Syndrome with Minimal Changes SPR074
Sporadic Infantile Bilateral Striatal Necrosis SPR070 ABSN
Sporadic Pheochromocytoma SPR094
Sporadic Pheochromocytoma/secreting Paraganglioma SPR068
Sporadic Secreting Paraganglioma SPR069
Sporotrichosis SPR010
Spotted Fever SPT005
Spotted Fever Rickettsiosis SPT024
Sprengel Deformity SPR031
Sptlc1-Related Hereditary Sensory Neuropathy SPT021
Squalene Synthase Deficiency SQL002 SQSD
Squamous Blepharitis SQM003
Squamous Cell Bile Duct Carcinoma SQM004
Squamous Cell Carcinoma SQM006
Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract SQM016
Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract SQM017
Squamous Cell Carcinoma of Oral Cavity and Lip SQM026
Squamous Cell Carcinoma of Pancreas SQM014
Squamous Cell Carcinoma of the Corpus Uteri SQM012
Squamous Cell Carcinoma of the Small Intestine SQM019
Squamous Cell Carcinoma, Head and Neck SQM013 HNSCC
Squamous Cell Papilloma SQM002
Squamous Cell Papilloma of Skin SQM001
Squamous Papillomatosis SQM005
Ssr4-Cdg SSR001 CDGIY
St Anthony's Fire STN005
St. Louis Encephalitis STL001
Stable Condition Keratoconus STB001
Stac3 Disorder STC018
Stachybotrys Chartarum STC004
Stalker Chitayat Syndrome STL002
Stankiewicz-Isidor Syndrome STN014 STISS
Stapes Ankylosis with Broad Thumbs and Toes STP011 SABTS
Staphylococcal Necrotizing Pneumonia STP010
Staphylococcal Scarlet Fever STP007
Staphylococcal Toxemia STP012
Staphylococcal Toxic Shock Syndrome STP004
Staphyloenterotoxemia STP002
Staphyloma Posticum STP001
Stargardt Disease STR022
Stargardt Disease 1 STR084 STGD1
Stargardt Disease 3 STR040 STGD3
Stargardt Disease 4 STR054 STGD4
Stargardt Macular Degeneration STR046 STGD
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation, and Dysmorphic Facial Features STR104
Startle Epilepsy STR070
Statin Toxicity STT044
Stature As a Quantitative Trait STT048
Stature Quantitative Trait Locus 10 STT056 STQTL10
Stature Quantitative Trait Locus 11 STT057 STQTL11
Stature Quantitative Trait Locus 12 STT058 STQTL12
Stature Quantitative Trait Locus 13 STT059 STQTL13
Stature Quantitative Trait Locus 14 STT060 STQTL14
Stature Quantitative Trait Locus 15 STT061 STQTL15
Stature Quantitative Trait Locus 16 STT062 STQTL16
Stature Quantitative Trait Locus 17 STT063 STQTL17
Stature Quantitative Trait Locus 18 STT064 STQTL18
Stature Quantitative Trait Locus 19 STT065 STQTL19
Stature Quantitative Trait Locus 2 STT049 STQTL2
Stature Quantitative Trait Locus 20 STT066 STQTL20
Stature Quantitative Trait Locus 21 STT067 STQTL21
Stature Quantitative Trait Locus 22 STT068 STQTL22
Stature Quantitative Trait Locus 23 STT069 STQTL23
Stature Quantitative Trait Locus 24 STT070 STQTL24
Stature Quantitative Trait Locus 3 STT050 STQTL3
Stature Quantitative Trait Locus 4 STT051 STQTL4
Stature Quantitative Trait Locus 5 STT052 STQTL5
Stature Quantitative Trait Locus 6 STT046 STQTL6
Stature Quantitative Trait Locus 7 STT053 STQTL7
Stature Quantitative Trait Locus 8 STT054 STQTL8
Stature Quantitative Trait Locus 9 STT055 STQTL9
Status Asthmaticus STT002
Status Epilepticus STT001 SE
Steatocystoma Multiplex STT007 SM
Steatocystoma Multiplex with Natal Teeth STT008
Steatorrhea STT004
Steel Syndrome STL007 STLS
Steinfeld Syndrome STN006
Stenosis of Lacrimal Passage STN003
Stenosis of Lacrimal Punctum STN002
Stenosis of Lacrimal Sac STN001
Stenotrophomonas Maltophilia Infection STN013
Stereotypic Movement Disorder STR015
Sternal Cleft STR029
Sternum Cancer STR017
Sternum Lymphoma STR014
Sternum, Premature Obliteration of Sutures of STR097
Steroid Dehydrogenase Deficiency Dental Anomalies STR032
Steroid Inherited Metabolic Disorder STR018
Steroid Lipomatosis STR010
Steroid-Induced Glaucoma STR019
Steroid-Induced Glaucoma - Borderline STR016
Sterol Biosynthesis Disorder STR107
Sterol Metabolism Disorder STR106
Sterol Metabolism Disorder with Epilepsy STR105
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis STV007
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis Overlap Syndrome STV009
Stevenson-Carey Syndrome STV008
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 SPS
Sting-Associated Vasculopathy with Onset in Infancy STN011 SAVI
Sting-Associated Vasculopathy, Infantile-Onset STN012 SAVI
Stocco Dos Santos Syndrome STC008
Stocco Dos Santos X-Linked Mental Retardation Syndrome STC002 SDSX
Stoelinga De Koomen Davis Syndrome STL003
Stoll Alembik Finck Syndrome STL004
Stomach Cancer, Childhood STM011
Stomach Carcinoma in Situ STM003
Stomach Disease STM006
Stomach Diverticulosis STM002
Stomatin-Deficient Cryohydrocytosis with Neurologic Defects STM015 SDCHCN
Stomatin-Like Protein-2, Hyperphosphorylation of STM016
Stomatitis STM007
Stone in Bladder Diverticulum STN004
Storage Pool Platelet Disease STR089
Stork Bite STR005
Storm Syndrome STR033
Stormorken Syndrome STR081 STRMK
Strabismus STR020
Straddling and/or Overriding Mitral Valve STR076
Straddling or Overriding Tricuspid Valve STR075
Stratton-Parker Syndrome STR088
Strawberry Gallbladder STR003
Streptococcal Group a Invasive Disease STR035 GAS
Streptococcal Group B Invasive Disease STR036
Streptococcal Meningitis STR002
Streptococcal Toxic-Shock Syndrome STR077
Streptococcus Pneumonia STR103
Streptococcus Pneumoniae-Associated Hemolytic Uremic Syndrome STR108
Streptococcus, Group a, Severity of Infection by STR100
Stress Polycythemia STR007
Striae Distensae, Familial STR098
Striatal Degeneration, Autosomal Dominant 1 STR101 ADSD1
Striatal Degeneration, Autosomal Dominant 2 STR092 ADSD2
Striate Palmoplantar Keratoderma STR096
Striated Muscle Rhabdoid Tumor STR082
Striatonigral Degeneration STR001
Striatonigral Degeneration, Childhood-Onset STR093 SNDC
Striatonigral Degeneration, Infantile STR085 SNDI
Striatonigral Degeneration, Infantile, Mitochondrial STR099 MIBSN
Strictly Posterior Acute Myocardial Infarction STR011
Stricture or Kinking of Ureter STR004
Stroke, Ischemic STR067 ISCHSTR
Stroma-Dominant and Stroma-Poor Composite Ganglioneuroblastoma STR013
Stromal Corneal Dystrophy STR111
Stromal Corneal Pigmentation STR006
Stromal Dystrophy STR086
Stromal Keratitis STR072
Stromal Predominant Kidney Wilms' Tumor STR009
Stromme Syndrome STR094 STROMS
Strongyloidiasis STR008
Structural Developmental Eye Defect STR109
Structural Developmental Eye Defect of Genetic Origin STR110
Structural Heart Defects and Renal Anomalies Syndrome STR095 SHDRA
Struma Ovarii STR021
Stt3a-Cdg and Stt3b-Cdg STT042 CDGIW
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 Cerebellar Degeneration SBC039 SCD
Subacute Cutaneous Lupus Erythematosus SBC035
Subacute Delirium SBC016
Subacute Glomerulonephritis SBC010
Subacute Inflammatory Demyelinating Polyneuropathy SBC037
Subacute Leukemia SBC006
Subacute Lymphocytic Thyroiditis SBC005
Subacute Monocytic Leukemia SBC015
Subacute Myeloid Leukemia SBC004
Subacute Thyroiditis SBC007
Subaortic Course of Innominate Vein SBR010
Subaortic Stenosis, Membranous SBR012
Subaortic Stenosis--Short Stature Syndrome SBR011
Subareolar Duct Papillomatosis SBR003
Subclavian Artery Aneurysm SBC002
Subclavian Steal Syndrome SBC014
Subcorneal Pustular Dermatosis SBC012
Subcortical Arteriosclerotic Encephalopathy SBC025
Sub-Cortical Nodular Heterotopia SBC038
Subcutaneous Mycosis SBC019
Subcutaneous Tissue Disease SBC040
Subdural Empyema SBD001
Subendocardial Infarction Acute Myocardial Infarction SBN002
Subendocardial Myocardial Infarction SBN001
Subependymal Giant Cell Astrocytoma SBP001 SEGA
Subependymal Glioma SBP002
Subependymal Nodular Heterotopia SBP003
Subependymoma SBP004
Subglottic Angioma SBG002
Subglottis Neoplasm SBG001
Subglottis Squamous Cell Carcinoma SBG004
Subglottis Verrucous Carcinoma SBG003
Subleukemic Leukemia SBL003
Sublingual Gland Adenoid Cystic Carcinoma SBL007
Sublingual Gland Cancer SBL001
Submandibular Adenitis SBM002
Submandibular Gland Cancer SBM004
Submandibular Gland Disease SBM003
Submucosal Cleft Palate SBM006
Submucosal Invasive Colon Adenocarcinoma SBM001
Submucous Uterine Fibroid SBM005
Subpulmonary Stenosis SBP005
Subserous Uterine Fibroid SBS001
Substance Abuse SBS003
Substance Dependence SBS004
Substance-Induced Psychosis SBS005
Substernal Goiter SBS002
Subungual Glomus Tumor SBN003
Subvalvular Aortic Stenosis SBV001
Succinic Acidemia SCC003
Succinic Semialdehyde Dehydrogenase Deficiency SCC001 SSADHD
Succinylcholine Allergy SCC012
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency SCC011 SCOTD
Sucking/swallowing Disorder Associated to a Chromosomal Anomaly SCK046
Sucking/swallowing Disorder Associated to Cervicofacial or Esophageal Malformation SCK045
Sucking/swallowing Disorder Associated with a Neuromuscular Disease SCK039
Sucking/swallowing Disorder Associated with an Identified Syndrome SCK047
Sucking/swallowing Disorder Associated with Basal Ganglia Anomalies SCK042
Sucking/swallowing Disorder Associated with Cerebellar Anomalies SCK040
Sucking/swallowing Disorder Associated with Neurologic Anomalies SCK044
Sucking/swallowing Disorder Associated with Posterior Fossa Anomalies SCK041
Sucking/swallowing Disorder Associated with Suprabulbar Anomalies SCK043
Sucking/swallowing Disorder Not Related with Pierre Robin Syndrome SCK048
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria SCL054
Suclg1-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria SCL055
Sucrase-Isomaltase Deficiency, Congenital SCR037 CSID
Sucrosuria, Hiatus Hernia and Mental Retardation SCR041
Sudanophilic Cerebral Sclerosis SDN002
Sudden Arrhythmia Death Syndrome SDD004 SADS
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
Sugarman Brachydactyly SGR001
Sulfamethoxazole Allergy SLF017
Sulfasalazine Allergy SLF018
Sulfation-Related Bone Disorder SLF019
Sulfhemoglobinemia SLF001
Sulfhemoglobinemia, Congenital SLF013
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency SLF012 MOCOD
Sulfite Oxidase Deficiency, Isolated SLF014 ISOD
Sulfonamide Allergy SLF016
Summitt Syndrome SMM003
Sunct Headache SNC001
Superficial Basal Cell Carcinoma SPR005
Superficial Corneal Dystrophy SPR147
Superficial Fibromatosis SPR145
Superficial Keratitis SPR019
Superficial Mycosis SPR020
Superficial Pemphigus SPR072
Superficial Siderosis SPR066
Superficial Siderosis of the Central Nervous System SPR032
Superficial Spreading Melanoma SPR033
Superficial Urinary Bladder Cancer SPR001
Superior Celosomia SPR139
Superior Limbic Keratoconjunctivitis SPR034 SLK
Superior Mesenteric Artery Syndrome SPR007
Superior Semicircular Canal Dehiscence SPR126 SCDS
Superior Transverse Scapular Ligament, Calcification of, Familial SPR121
Superior Vena Cava Angiosarcoma SPR002
Superior Vena Cava Leiomyosarcoma SPR003
Supernumerary Breasts SPR064
Supernumerary Der(22)t(8;22) Syndrome SPR144
Supernumerary Nostril SPR065
Supine Hypotensive Syndrome SPN031
Suppression Amblyopia SPP007
Suppression of Tumorigenicity 12 SPP011 ST12
Suppressor of Tumorigenicity 3 SPP010 ST3
Suppurative Cholangitis SPP004
Suppurative Lymphadenitis SPP001
Suppurative Otitis Media SPP008
Suppurative Periapical Periodontitis SPP003
Suppurative Thyroiditis SPP005
Suppurative Uveitis SPP006
Suprabasal Epidermolysis Bullosa Simplex SPR146
Suprabulbar Paresis, Congenital SPR108
Supraglottic Laryngeal Cancer SPR037
Supraglottis Cancer SPR021
Supraglottis Neoplasm SPR022
Supraglottis Squamous Cell Carcinoma SPR023
Supraglottis Verrucous Carcinoma SPR015
Supranuclear Eye Movement Disorder SPR148
Supranuclear Ocular Palsy SPR038
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
Supratip Dysplasia SPR109
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas SPR040
Supravalvular Aortic Stenosis SPR004 SVAS
Suprofen Allergy SPR138
Surface Antigen, Glycoprotein 75 SRF010 SGP75
Surface Polypeptides, Anonymous SRF011 SPA2
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
Susac Syndrome SSC001 RED-M
Susceptibility to Adverse Reaction Due to Mercaptopurine SSC046
Susceptibility to Localized Juvenile Periodontitis SSC054
Susceptibility/resistance to Hiv Infection SSC050
Sutton Disease 2 STT009
Sveinsson Chorioretinal Atrophy SVN002 SCRA
Swallowing Disorders SWL001
Sweat Gland Cancer SWT002
Sweat Gland Disease SWT003
Sweat Gland Neoplasm SWT004
Sweeney-Cox Syndrome SWN003 SWCOS
Swine Influenza SWN001
Swyer-James Syndrome SWY003
Sydenham Chorea SYD002
Symbrachydactyly of Hands and Feet SYM014
Symmastia SYM005
Symmetrical Thalamic Calcifications SYM006
Sympathetic Neurilemmoma SYM001
Sympathetic Ophthalmia SYM002
Symphalangism of Toes SYM027
Symphalangism with Multiple Anomalies of Hands and Feet SYM011
Symphalangism, C. S. Lewis Type SYM028
Symphalangism, Distal SYM024 SYM2
Symphalangism, Distal, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch SYM012
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 Ectodermal Dysplasia Cleft Lip Palate Hand Foot SYN017
Syndactyly Type 6 SYN050
Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction SYN063 MSSD
Syndactyly, Type Iii SYN060 SDTY3
Syndactyly, Type Iv SYN061 SDTY4
Syndactyly, Type V SYN059 SDTY5
Syndactyly-Nystagmus Syndrome Due to 2q31.1 Microduplication SYN096
Syndactyly-Polydactyly-Earlobe Syndrome SYN025
Syndesmodysplasic Dwarfism SYN026
Syndrome Associated with Dilated Cardiomyopathy SYN113
Syndrome Associated with Hypertrophic Cardiomyopathy SYN114
Syndrome of Inappropriate Antidiuretic Hormone SYN046 SIADH
Syndrome or Malformation Associated with Head and Neck Malformations SYN107
Syndrome with 46,xy Disorder of Sex Development SYN140
Syndrome with a Central Nervous System Malformation As Major Feature SYN158
Syndrome with a Cerebellar Malformation As Major Feature SYN111
Syndrome with a Dandy-Walker Malformation As Major Feature SYN109
Syndrome with Corpus Callosum Agenesis/dysgenesis As a Major Feature SYN102
Syndrome with Disorder of Sex Development of Gynecological Interest SYN117
Syndrome with Limb Duplication, Polydactyly, Syndactyly, and/or Hyperphalangy SYN119
Syndrome with Limb Malformations As a Major Feature SYN156
Syndrome with Limb Reduction Defects SYN118
Syndrome with Microcephaly As Major Feature SYN110
Syndrome with Pulmonary Hypertension As a Major Feature SYN108
Syndrome with Synostosis or Other Joint Formation Defect SYN142
Syndromic Agammaglobulinemia SYN115
Syndromic Aniridia SYN148
Syndromic Ankyloblepharon Filiforme Adnatum SYN147
Syndromic Anorectal Malformation SYN155
Syndromic Autoimmune Enteropathy SYN135
Syndromic Biliary Atresia SYN122
Syndromic Breast Hypoplasia/aplasia SYN099
Syndromic Cataract SYN150
Syndromic Chorioretinal Dystrophy SYN129
Syndromic Constitutional Thrombocytopenia SYN123
Syndromic Corneal Dystrophy SYN151
Syndromic Craniosynostosis SYN106
Syndromic Diaphragmatic or Abdominal Wall Malformation SYN159
Syndromic Diaphragmatic or Thoracic Malformation SYN098
Syndromic Disorder with Strabismus SYN154
Syndromic Ectopia Lentis SYN127
Syndromic Epicanthus SYN145
Syndromic Esophageal Malformation SYN162
Syndromic Eyelid Coloboma SYN146
Syndromic Gastroduodenal Malformation SYN163
Syndromic Genetic Cataract SYN133
Syndromic Genetic Deafness SYN137
Syndromic Genetic Disorder with Strabismus SYN134
Syndromic Genetic Ectopia Lentis SYN132
Syndromic Genetic Keratoconus SYN131
Syndromic Hair Shaft Abnormality SYN138
Syndromic Hereditary Optic Neuropathy SYN121
Syndromic Hyperopia SYN153
Syndromic Hypothyroidism SYN101
Syndromic Inherited Retinal Disorder SYN124
Syndromic Intellectual Disability SYN057
Syndromic Intestinal Malformation SYN160
Syndromic Keratoconus SYN152
Syndromic Lacrimal System Disorder SYN130
Syndromic Lymphedema SYN136
Syndromic Macular Dystrophy SYN128
Syndromic Microphthalmia-Anophthalmia-Coloboma SYN112
Syndromic Microspherophakia SYN126
Syndromic Nail Anomaly SYN139
Syndromic Neurometabolic Disease with Non-X-Linked Intellectual Disability SYN104
Syndromic Neurometabolic Disease with X-Linked Intellectual Disability SYN103
Syndromic Obesity SYN116
Syndromic Oculocutaneous Albinism SYN120
Syndromic Optic Nerve Hypoplasia SYN047
Syndromic Outer Canthal Malposition SYN144
Syndromic Renal or Urinary Tract Malformation SYN141
Syndromic Respiratory or Mediastinal Malformation SYN157
Syndromic Rod-Cone Dystrophy SYN149
Syndromic Sucking/swallowing Disorder with Unidentifyed Syndrome SYN105
Syndromic Telecanthus SYN143
Syndromic Urogenital Tract Malformation SYN097
Syndromic Uterovaginal Malformation SYN100
Syndromic Visceral Malformation SYN161
Syndromic Vitreoretinopathy SYN125
Syndromic X-Linked Intellectual Disability SYN064
Syndromic X-Linked Intellectual Disability 12 SYN077
Syndromic X-Linked Intellectual Disability 14 SYN082
Syndromic X-Linked Intellectual Disability 7 SYN056 MRXS7
Syndromic X-Linked Intellectual Disability Abidi Type SYN081
Syndromic X-Linked Intellectual Disability Cabezas Type SYN092 MRSS
Syndromic X-Linked Intellectual Disability Nascimento Type SYN091
Syndromic X-Linked Intellectual Disability Raymond Type SYN093 MRXSR
Syndromic X-Linked Intellectual Disability Shashi Type SYN083 SMRXS
Syndromic X-Linked Intellectual Disability Siderius Type SYN079
Syndromic X-Linked Intellectual Disability Snyder Type SYN089 SRS
Syndromic X-Linked Intellectual Disability Turner Type SYN090 MRXST
Syndromic X-Linked Intellectual Disability Type 10 SYN078
Syndromic X-Linked Mental Retardation Hough Type SYN094
Syne1 Deficiency SYN095
Synesthesia SYN041
Syngap1-Related Intellectual Disability SYN073 MRD5
Syngap1-Related Non-Syndromic Intellectual Disability SYN070 MRD5
Syngnathia SYN075
Syngnathia Cleft Palate SYN027
Syngnathia Multiple Anomalies SYN028
Synostoses, Tarsal, Carpal, and Digital SYN086
Synostosis SYN005
Synostosis of Talus and Calcaneus Short Stature SYN029
Synovial Angioma SYN004
Synovial Chondromatosis SYN031
Synovial Chondromatosis, Familial, with Dwarfism SYN087
Synovitis SYN007
Synovium Cancer SYN008
Synovium Neoplasm SYN009
Synpolydactyly SYN012 SPD
Synpolydactyly 1 SYN084 SPD1
Synpolydactyly 2 SYN088 SPD2
Synpolydactyly 3 SYN040 SPD3
Syphilis SYP003
Syphilitic Aseptic Meningitis SYP004
Syphilitic Encephalitis SYP002
Syphilitic Meningitis SYP001
Syphilitic Myelopathy SYP005
Syphilitic Spinal Sclerosis SYP007
Syringobulbia SYR004
Syringocystadenoma Papilliferum SYR002 SCAP
Syringohydromyelia SYR007
Syringoma SYR003
Syringomas, Multiple SYR009
Syringomyelia SYR001
Syringomyelia, Noncommunicating Isolated SYR010
Systemic Autoimmune Disease SYS071
Systemic Capillary Leak Syndrome SYS007 SCLS
Systemic Disease with Skin Involvement SYS073
Systemic Diseases with Anterior Uveitis SYS074
Systemic Diseases with Panuveitis SYS075
Systemic Diseases with Posterior Uveitis SYS076
Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood SYS070
Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood SYS063
Systemic Inflammatory Disease Associated with an Acquired Peripheral Neuropathy SYS072
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 SLEB12
Systemic Lupus Erythematosus 13 SYS052 SLEB13
Systemic Lupus Erythematosus 14 SYS045 SLEB14
Systemic Lupus Erythematosus 15 SYS067 SLEB15
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 Monochloroacetate Poisoning SYS058
Systemic Necrotizing Angitis SYS008
Systemic Onset Juvenile Idiopathic Arthritis SYS034
Systemic Polyarteritis Nodosa SYS066
Systemic Scleroderma SYS005 PSS
Systolic Heart Failure SYS003
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