Diseases List
 
 
DiagnosisOmim NumberSample Count
SALLA DISEASE6043693
SANDHOFF DISEASE26880011
SC PHOCOMELIA SYNDROME2690003
SCHEIE SYNDROME6070162
SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME2691501
SCHIZOPHRENIA; SCZD18150017
SCHUURS-HOEIJMAKERS SYNDROME; SHMS 3
SCHWARTZ-JAMPEL SYNDROME; SJS2558001
SEA-BLUE HISTIOCYTE DISEASE2696004
SECKEL SYNDROME2106003
SEGMENTAL DYSTONIA 504
SEIP SYNDROME2697001
SENSORY NEUROPATHY TYPE UNKNOWN 1
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY10270047
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX13004002
SEX REVERSAL, AUTOSOMAL, 2; SRA21542301
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME1822123
SIALIC ACID STORAGE DISEASE; SIASD26992011
SICKLE CELL ANEMIA60390311
SIDEROBLASTIC ANEMIA - 206000 OR 3013002060002
SIDEROBLASTIC ANEMIA - 206000 OR 3013003013002
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS13128702
SITOSTEROLEMIA2102505
SJOGREN-LARSSON SYNDROME2702003
SMITH-LEMLI-OPITZ SYNDROME; SLOS2704004
SMITH-MAGENIS SYNDROME; SMS18229087
SOTOS SYNDROME1175505
SPECIFIC ANTIBODY DEFICIENCY WITH NORMAL IMMUNOGLOBULINS 3
SPECIFIC ANTIBODY DEFICIENCY WITH NORMAL IMMUNOGLOBULINS AND PEG-TEETH 1
SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY241500012
SPHEROCYTOSIS, HEREDITARY; HS1829002
SPINA BIFIDA1829402
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX13132003
SPINAL MUSCULAR ATROPHY 21
SPINAL MUSCULAR ATROPHY I; SMA12533007
SPINOCEREBELLAR ATAXIA1830903
SPINOCEREBELLAR ATAXIA 1; SCA11644005
SPINOCEREBELLAR ATAXIA 7; SCA71645002
SPONASTRIME DYSPLASIA2715104
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS6035461
SPONDYLOPERIPHERAL DYSPLASIA2717003
STICKLER SYNDROME, TYPE I; STL11083002
STRIATAL NIGRAL DEGENERATION 1
STROKE 6
SUBARACHNOID HEMORRHAGE 1186
SUN SENSITIVE HIGH CANCER SYNDROME 2
SUPRANUCLEAR PALSY, PROGRESSIVE6011041