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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).
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Human Diseases/Syndromes Beginning with "S"

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OMIM IDHuman Disease
OMIM:211390 Sabinas Brittle Hair Syndrome
OMIM:268700 Saccharopinuria
OMIM:615709 Sacral Agenesis with Vertebral Anomalies; SAVA
OMIM:600145 Sacral Defect with Anterior Meningocele
OMIM:101400 Saethre-Chotzen Syndrome; SCS
OMIM:610871 Sakoda Complex
OMIM:181010 Salivary Duct Calculi
OMIM:181030 Salivary Gland Adenoma, Pleomorphic
OMIM:180950 Salivary Substance, Clostridium Botulinum Type
OMIM:604369 Salla Disease; SD
OMIM:609056 Salt and Pepper Developmental Regression Syndrome; SPDRS
OMIM:618804 Sandestig-Stefanova Syndrome; SANDSTEF
OMIM:268800 Sandhoff Disease
OMIM:613005 Santos Syndrome
OMIM:181000 Sarcoidosis, Susceptibility to, 1; SS1
OMIM:612387 Sarcoidosis, Susceptibility to, 2; SS2
OMIM:612388 Sarcoidosis, Susceptibility to, 3; SS3
OMIM:300813 Sarcoma, Synovial
OMIM:268900 Sarcosinemia; SARCOS
OMIM:600705 Satoyoshi Syndrome
OMIM:618150 Saul-Wilson Syndrome; SWILS
OMIM:181180 Say Syndrome
OMIM:181250 Scalp Defects and Postaxial Polydactyly
OMIM:181270 Scalp-Ear-Nipple Syndrome; SENS
OMIM:609579 Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development
OMIM:181300 Scapula, Contour of Vertebral Border of
OMIM:300695 Scapuloperoneal Myopathy, X-Linked Dominant; SPM
OMIM:181405 Scapuloperoneal Spinal Muscular Atrophy; SPSMA
OMIM:181400 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type; SCPNK
OMIM:312830 SCARF Syndrome
OMIM:615547 Schaaf-Yang Syndrome; SHFYNG
OMIM:607016 Scheie Syndrome
OMIM:181440 Scheuermann Disease
OMIM:164220 Schilbach-Rott Syndrome; SBRS
OMIM:242900 Schimke Immunoosseous Dysplasia; SIOD
OMIM:312840 Schimke Syndrome
OMIM:163200 Schimmelpenning-Feuerstein-Mims Syndrome; SFM
OMIM:609241 Schindler Disease, Type I
OMIM:269150 Schinzel-Giedion Midface Retraction Syndrome
OMIM:181460 Schistosoma Mansoni Infection, Susceptibility/Resistance to
OMIM:269160 Schizencephaly
OMIM:605419 Schizophrenia 10; SCZD10
OMIM:608078 Schizophrenia 11
OMIM:608543 Schizophrenia 12
OMIM:613025 Schizophrenia 13; SCZD13
OMIM:612361 Schizophrenia 14
OMIM:613950 Schizophrenia 15; SCZD15
OMIM:613959 Schizophrenia 16; SCZD16
OMIM:615232 Schizophrenia 18; SCZD18
OMIM:617629 Schizophrenia 19; SCZD19
OMIM:181510 Schizophrenia 1; SCZD1
OMIM:603342 Schizophrenia 2; SCZD2
OMIM:600511 Schizophrenia 3; SCZD3
OMIM:600850 Schizophrenia 4; SCZD4
OMIM:603175 Schizophrenia 5; SCZD5
OMIM:603013 Schizophrenia 6; SCZD6
OMIM:603176 Schizophrenia 7; SCZD7
OMIM:603206 Schizophrenia 8; SCZD8
OMIM:604906 Schizophrenia 9; SCZD9
OMIM:181500 Schizophrenia; SCZD
OMIM:269250 Schneckenbecken Dysplasia; SHNKND
OMIM:121800 Schnyder Corneal Dystrophy; SCCD
OMIM:300977 Scholte Syndrome; SHLTS
OMIM:224750 Schopf-Schulz-Passarge Syndrome; SSPS
OMIM:615009 Schuurs-Hoeijmakers Syndrome; SHMS
OMIM:162091 Schwannomatosis 1; SWN1
OMIM:615670 Schwannomatosis 2; SWN2
OMIM:101000 Schwannomatosis, Vestibular; SWNV
OMIM:255800 Schwartz-Jampel Syndrome, Type 1; SJS1
OMIM:608281 Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
OMIM:181700 Sclerocornea, Autosomal Dominant
OMIM:181750 Scleroderma, Familial Progressive
OMIM:617394 Sclerosing Cholangitis, Neonatal; NSC
OMIM:269500 Sclerosteosis 1; SOST1
OMIM:614305 Sclerosteosis 2; SOST2
OMIM:612445 Scoliosis, Arachnodactyly, and Blindness
OMIM:181800 Scoliosis, Isolated, Susceptibility to, 1; IS1
OMIM:607354 Scoliosis, Isolated, Susceptibility to, 2; IS2
OMIM:608765 Scoliosis, Isolated, Susceptibility to, 3; IS3
OMIM:612238 Scoliosis, Isolated, Susceptibility to, 4; IS4
OMIM:612239 Scoliosis, Isolated, Susceptibility to, 5; IS5
OMIM:262890 Scott Syndrome; SCTS
OMIM:269600 Sea-Blue Histiocyte Disease
OMIM:601700 Sebaceous Gland Hyperplasia, Familial Presenile
OMIM:610227 Seborrhea-Like Dermatitis with Psoriasiform Elements
OMIM:617253 Seckel Syndrome 10; SCKL10
OMIM:620767 Seckel Syndrome 11; SCKL11
OMIM:210600 Seckel Syndrome 1; SCKL1
OMIM:606744 Seckel Syndrome 2; SCKL2
OMIM:613676 Seckel Syndrome 4; SCKL4
OMIM:613823 Seckel Syndrome 5; SCKL5
OMIM:614728 Seckel Syndrome 6; SCKL6
OMIM:614851 Seckel Syndrome 7; SCKL7
OMIM:615807 Seckel Syndrome 8; SCKL8
OMIM:616777 Seckel Syndrome 9; SCKL9
OMIM:269630 Second Metatarsal-Metacarpal Syndrome
OMIM:269650 Secretory Component Deficiency
OMIM:607540 Secretory Diarrhea, Myopathy, and Deafness
OMIM:617213 Sedoheptulokinase Deficiency; SHPKD
OMIM:605407 Segawa Syndrome, Autosomal Recessive
OMIM:601764 Seizures, Benign Familial Infantile, 1; BFIS1
OMIM:605751 Seizures, Benign Familial Infantile, 2; BFIS2
OMIM:607745 Seizures, Benign Familial Infantile, 3; BFIS3
OMIM:612627 Seizures, Benign Familial Infantile, 4; BFIS4
OMIM:617080 Seizures, Benign Familial Infantile, 5; BFIS5
OMIM:121200 Seizures, Benign Familial Neonatal, 1; BFNS1
OMIM:121201 Seizures, Benign Familial Neonatal, 2; BFNS2
OMIM:608217 Seizures, Benign Familial Neonatal, 3; BFNS3
OMIM:269720 Seizures, Benign Familial Neonatal, Autosomal Recessive
OMIM:616632 Seizures, Cortical Blindness, and Microcephaly Syndrome; SCBMS
OMIM:618875 Seizures, Early-Onset, with Neurodegeneration and Brain Calcifications; SENEBAC
OMIM:616682 Seizures, Scoliosis, and Macrocephaly/Microcephaly Syndrome; SSMS
OMIM:612780 Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, and Electrolyte Imbalance; SESAMES
OMIM:182200 Sella Turcica, Bridged
OMIM:606156 Sener Syndrome
OMIM:212350 Sengers Syndrome
OMIM:269800 Senile Plaque Formation
OMIM:266900 Senior-Loken Syndrome 1; SLSN1
OMIM:606995 Senior-Loken Syndrome 3; SLSN3
OMIM:606996 Senior-Loken Syndrome 4; SLSN4
OMIM:609254 Senior-Loken Syndrome 5; SLSN5
OMIM:610189 Senior-Loken Syndrome 6; SLSN6
OMIM:613615 Senior-Loken Syndrome 7; SLSN7
OMIM:616307 Senior-Loken Syndrome 8; SLSN8
OMIM:616629 Senior-Loken Syndrome 9; SLSN9
OMIM:602340 Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
OMIM:607459 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis; SANDO
OMIM:182230 Septooptic Dysplasia
OMIM:617108 Sessile Serrated Polyposis Cancer Syndrome; SSPCS
OMIM:600598 Setting-Sun Phenomenon, Familial Benign
OMIM:102700 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency
OMIM:601457 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
OMIM:600802 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
OMIM:602450 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation
OMIM:300400 Severe Combined Immunodeficiency, X-Linked; SCIDX1
OMIM:608579 Severe Cutaneous Adverse Reaction, Susceptibility to
OMIM:615328 Shaheen Syndrome; SHNS
OMIM:617190 Shashi-Pena Syndrome; SHAPNS
OMIM:200900 Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
OMIM:609620 Short QT Syndrome 1; SQT1
OMIM:609621 Short QT Syndrome 2; SQT2
OMIM:609622 Short QT Syndrome 3; SQT3
OMIM:620231 Short QT Syndrome 7; SQT7
OMIM:615630 Short-Rib Thoracic Dysplasia 10 with or without Polydactyly; SRTD10
OMIM:615633 Short-Rib Thoracic Dysplasia 11 with or without Polydactyly; SRTD11
OMIM:269860 Short-Rib Thoracic Dysplasia 12; SRTD12
OMIM:616300 Short-Rib Thoracic Dysplasia 13 with or without Polydactyly; SRTD13
OMIM:616546 Short-Rib Thoracic Dysplasia 14 with Polydactyly; SRTD14
OMIM:617088 Short-Rib Thoracic Dysplasia 15 with Polydactyly; SRTD15
OMIM:617102 Short-Rib Thoracic Dysplasia 16 with or without Polydactyly; SRTD16
OMIM:617405 Short-Rib Thoracic Dysplasia 17 with or without Polydactyly; SRTD17
OMIM:617866 Short-Rib Thoracic Dysplasia 18 with Polydactyly; SRTD18
OMIM:617895 Short-Rib Thoracic Dysplasia 19 with or without Polydactyly; SRTD19
OMIM:208500 Short-Rib Thoracic Dysplasia 1 with or without Polydactyly; SRTD1
OMIM:617925 Short-Rib Thoracic Dysplasia 20 with Polydactyly; SRTD20
OMIM:619479 Short-Rib Thoracic Dysplasia 21 without Polydactyly; SRTD21
OMIM:611263 Short-Rib Thoracic Dysplasia 2 with or without Polydactyly; SRTD2
OMIM:613091 Short-Rib Thoracic Dysplasia 3 with or without Polydactyly; SRTD3
OMIM:613819 Short-Rib Thoracic Dysplasia 4 with or without Polydactyly; SRTD4
OMIM:614376 Short-Rib Thoracic Dysplasia 5 with or without Polydactyly; SRTD5
OMIM:263520 Short-Rib Thoracic Dysplasia 6 with or without Polydactyly; SRTD6
OMIM:614091 Short-Rib Thoracic Dysplasia 7 with or without Polydactyly; SRTD7
OMIM:615503 Short-Rib Thoracic Dysplasia 8 with or without Polydactyly; SRTD8
OMIM:266920 Short-Rib Thoracic Dysplasia 9 with or without Polydactyly; SRTD9
OMIM:618591 Short Sleep, Familial Natural, 2; FNSS2
OMIM:618363 Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis; SSASKS
OMIM:165800 Short Stature and Advanced Bone Age with or without Early-Onset Osteoarthritis and/or Osteochondritis Dissecans; SSOAOD
OMIM:609654 Short Stature and Facioauriculothoracic Malformations
OMIM:618702 Short Stature and Microcephaly with Genital Anomalies; SSMGA
OMIM:602471 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities; SAMS
OMIM:617157 Short Stature, Brachydactyly, Impaired Intellectual Development, and Seizures; SBIDDS
OMIM:619489 Short Stature, Dauber-Argente Type; SSDA
OMIM:617044 Short Stature, Developmental Delay, and Congenital Heart Defects;
OMIM:617877 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1; SSFSC1
OMIM:619184 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2; SSFSC2
OMIM:617763 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies; SHRF
OMIM:300582 Short Stature, Idiopathic, X-Linked; ISS
OMIM:605856 Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
OMIM:619557 Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, and Ocular Anomalies; SIMHA
OMIM:616541 Short Stature, Microcephaly, and Endocrine Dysfunction; SSMED
OMIM:617164 Short Stature-Micrognathia Syndrome; SSMG
OMIM:269870 Short Stature-Obesity Syndrome; SSOS
OMIM:619234 Short Stature, Oligodontia, Dysmorphic Facies, and Motor Delay; SOFM
OMIM:614813 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis; SOFT
OMIM:614800 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly; SOPH
OMIM:601350 Short Stature Syndrome, Brussels Type
OMIM:616255 Short Stature with Nonspecific Skeletal Abnormalities 1; SNSK1
OMIM:269880 SHORT Syndrome
OMIM:600269 Short Tarsus with Absence of Lower Eyelashes; STALE
OMIM:182212 Shprintzen-Goldberg Craniosynostosis Syndrome; SGS
OMIM:182210 Shprintzen Omphalocele Syndrome
OMIM:301029 Shukla-Vernon Syndrome; SHUVER
OMIM:260400 Shwachman-Diamond Syndrome 1; SDS1
OMIM:617941 Shwachman-Diamond Syndrome 2; SDS2
OMIM:269921 Sialuria
OMIM:603903 Sickle Cell Disease
OMIM:608567 Sick Sinus Syndrome 1; SSS1
OMIM:163800 Sick Sinus Syndrome 2; SSS2
OMIM:614090 Sick Sinus Syndrome 3, Susceptibility To; SSS3
OMIM:619464 Sick Sinus Syndrome 4; SSS4
OMIM:618635 Siddiqi Syndrome; SIDDIS
OMIM:616084 Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay; SIFD
OMIM:617159 Sifrim-Hitz-Weiss Syndrome; SIHIWES
OMIM:180860 Silver-Russell Syndrome 1; SRS1
OMIM:618905 Silver-Russell Syndrome 2; SRS2
OMIM:616489 Silver-Russell Syndrome 3; SRS3
OMIM:618907 Silver-Russell Syndrome 4; SRS4
OMIM:618908 Silver-Russell Syndrome 5; SRS5
OMIM:182150 Simosa Craniofacial Syndrome
OMIM:312870 Simpson-Golabi-Behmel Syndrome, Type 1; SGBS1
OMIM:300209 Simpson-Golabi-Behmel Syndrome, Type 2; SGBS2
OMIM:182250 Singleton-Merten Syndrome 1; SGMRT1
OMIM:616298 Singleton-Merten Syndrome 2; SGMRT2
OMIM:614896 Sinoatrial Node Dysfunction and Deafness; SANDD
OMIM:182190 Sinus Node Disease and Myopia
OMIM:182220 Sister Chromatid Exchange, Frequency of
OMIM:210250 Sitosterolemia 1; STSL1
OMIM:618666 Sitosterolemia 2; STSL2
OMIM:603643 Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
OMIM:270220 Sjogren-Larsson-Like Ichthyosis without Cns or Eye Involvement
OMIM:270200 Sjogren-Larsson Syndrome; SLS
OMIM:270150 Sjogren Syndrome
OMIM:612447 Skeletal Defects, Genital Hypoplasia, and Impaired Intellectual Development
OMIM:602613 Skeletal Dysplasia and Progressive Central Nervous System Degeneration, Lethal
OMIM:618870 Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age;
OMIM:609047 Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa
OMIM:182255 Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
OMIM:619030 Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus; SMGMQTL
OMIM:156610 Skin Creases, Congenital Symmetric Circumferential, 1; CSCSC1
OMIM:616734 Skin Creases, Congenital Symmetric Circumferential, 2; CSCSC2
OMIM:616392 Skint1-Like Pseudogene; SKINTL
OMIM:617616 Skraban-Deardorff Syndrome; SKDEAS
OMIM:182260 Slipped Femoral Capital Epiphyses
OMIM:608236 Slowed Nerve Conduction Velocity, Autosomal Dominant; SNCV
OMIM:182280 Small Cell Cancer of the Lung
OMIM:616638 Smith-Kingsmore Syndrome; SKS
OMIM:270400 Smith-Lemli-Opitz Syndrome; SLOS
OMIM:182290 Smith-Magenis Syndrome; SMS
OMIM:607326 Smith-Mccort Dysplasia 1; SMC1
OMIM:615222 Smith-Mccort Dysplasia 2; SMC2
OMIM:613834 Smooth Muscle Dysfunction Syndrome; SMDYS
OMIM:182410 Sneddon Syndrome; SNDNS
OMIM:618205 Snijders Blok-Campeau Syndrome; SNIBCPS
OMIM:618604 Snijders Blok-Fisher Syndrome; SNIBFIS
OMIM:618973 Sodium-Dependent Multivitamin Transporter Deficiency; SMVTD
OMIM:270425 Sodium-Potassium-Atpase Activity of Red Cell
OMIM:147250 Solitary Median Maxillary Central Incisor; SMMCI
OMIM:109270 Solute Carrier Family 4 (anion Exchanger), Member 1; SLC4A1
OMIM:182400 Somatomedin, Embryonic
OMIM:270460 Sonoda Syndrome
OMIM:136900 Sorsby Fundus Dystrophy; SFD
OMIM:117550 Sotos Syndrome; SOTOS
OMIM:620666 Spastic Ataxia 10, Autosomal Recessive; SPAX10
OMIM:108600 Spastic Ataxia 1, Autosomal Dominant; SPAX1
OMIM:611302 Spastic Ataxia 2, Autosomal Recessive; SPAX2
OMIM:611390 Spastic Ataxia 3, Autosomal Recessive; SPAX3
OMIM:613672 Spastic Ataxia 4, Autosomal Recessive; SPAX4
OMIM:614487 Spastic Ataxia 5, Autosomal Recessive; SPAX5
OMIM:108650 Spastic Ataxia 7, Autosomal Dominant; SPAX7
OMIM:617560 Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy; SPAX8
OMIM:618438 Spastic Ataxia 9, Autosomal Recessive; SPAX9
OMIM:270550 Spastic Ataxia, Charlevoix-Saguenay Type; SACS
OMIM:270600 Spastic Diplegia and Impaired Intellectual Development
OMIM:616859 Spasticity, Childhood-Onset, with Hyperglycinemia; SPAHGC
OMIM:607225 Spastic Paralysis, Infantile-Onset Ascending; IAHSP
OMIM:312910 Spastic Paraparesis and Deafness
OMIM:604187 Spastic Paraplegia 10, Autosomal Dominant; SPG10
OMIM:604360 Spastic Paraplegia 11, Autosomal Recessive; SPG11
OMIM:604805 Spastic Paraplegia 12, Autosomal Dominant; SPG12
OMIM:605280 Spastic Paraplegia 13, Autosomal Dominant; SPG13
OMIM:605229 Spastic Paraplegia 14, Autosomal Recessive; SPG14
OMIM:270700 Spastic Paraplegia 15, Autosomal Recessive; SPG15
OMIM:300266 Spastic Paraplegia 16, X-Linked; SPG16
OMIM:270685 Spastic Paraplegia 17, Autosomal Dominant; SPG17
OMIM:620512 Spastic Paraplegia 18a, Autosomal Dominant; SPG18A
OMIM:611225 Spastic Paraplegia 18b, Autosomal Recessive; SPG18B
OMIM:607152 Spastic Paraplegia 19, Autosomal Dominant; SPG19
OMIM:275900 Spastic Paraplegia 20, Autosomal Recessive; SPG20
OMIM:270750 Spastic Paraplegia 23, Autosomal Recessive; SPG23
OMIM:607584 Spastic Paraplegia 24, Autosomal Recessive; SPG24
OMIM:608220 Spastic Paraplegia 25, Autosomal Recessive; SPG25
OMIM:609195 Spastic Paraplegia 26, Autosomal Recessive; SPG26
OMIM:609041 Spastic Paraplegia 27, Autosomal Recessive; SPG27
OMIM:609340 Spastic Paraplegia 28, Autosomal Recessive; SPG28
OMIM:609727 Spastic Paraplegia 29, Autosomal Dominant; SPG29
OMIM:312920 Spastic Paraplegia 2, X-Linked; SPG2
OMIM:610357 Spastic Paraplegia 30a, Autosomal Dominant; SPG30A
OMIM:620607 Spastic Paraplegia 30b, Autosomal Recessive; SPG30B
OMIM:610250 Spastic Paraplegia 31, Autosomal Dominant; SPG31
OMIM:611252 Spastic Paraplegia 32, Autosomal Recessive; SPG32
OMIM:610244 Spastic Paraplegia 33, Autosomal Dominant; SPG33
OMIM:300750 Spastic Paraplegia 34, X-Linked; SPG34
OMIM:612319 Spastic Paraplegia 35, Autosomal Recessive, with or without Neurodegeneration; SPG35
OMIM:613096 Spastic Paraplegia 36, Autosomal Dominant; SPG36
OMIM:611945 Spastic Paraplegia 37, Autosomal Dominant; SPG37
OMIM:612335 Spastic Paraplegia 38, Autosomal Dominant; SPG38
OMIM:612020 Spastic Paraplegia 39, Autosomal Recessive; SPG39
OMIM:182600 Spastic Paraplegia 3, Autosomal Dominant; SPG3A
OMIM:613364 Spastic Paraplegia 41, Autosomal Dominant; SPG41
OMIM:612539 Spastic Paraplegia 42, Autosomal Dominant; SPG42
OMIM:615043 Spastic Paraplegia 43, Autosomal Recessive; SPG43
OMIM:613206 Spastic Paraplegia 44, Autosomal Recessive; SPG44
OMIM:613162 Spastic Paraplegia 45, Autosomal Recessive; SPG45
OMIM:614409 Spastic Paraplegia 46, Autosomal Recessive; SPG46
OMIM:614066 Spastic Paraplegia 47, Autosomal Recessive; SPG47
OMIM:613647 Spastic Paraplegia 48, Autosomal Recessive; SPG48
OMIM:182601 Spastic Paraplegia 4, Autosomal Dominant; SPG4
OMIM:612936 Spastic Paraplegia 50, Autosomal Recessive; SPG50
OMIM:613744 Spastic Paraplegia 51, Autosomal Recessive; SPG51
OMIM:614067 Spastic Paraplegia 52, Autosomal Recessive; SPG52
OMIM:614898 Spastic Paraplegia 53, Autosomal Recessive; SPG53
OMIM:615033 Spastic Paraplegia 54, Autosomal Recessive; SPG54
OMIM:615035 Spastic Paraplegia 55, Autosomal Recessive; SPG55
OMIM:615030 Spastic Paraplegia 56, Autosomal Recessive, with or without Pseudoxanthoma Elasticum; SPG56
OMIM:615658 Spastic Paraplegia 57, Autosomal Recessive; SPG57
OMIM:270800 Spastic Paraplegia 5A, Autosomal Recessive; SPG5A
OMIM:615685 Spastic Paraplegia 61, Autosomal Recessive; SPG61
OMIM:615681 Spastic Paraplegia 62, Autosomal Recessive; SPG62
OMIM:615686 Spastic Paraplegia 63, Autosomal Recessive; SPG63
OMIM:615683 Spastic Paraplegia 64, Autosomal Recessive; SPG64
OMIM:600363 Spastic Paraplegia 6, Autosomal Dominant; SPG6
OMIM:620323 Spastic Paraplegia 70, Autosomal Recessive; SPG70
OMIM:615625 Spastic Paraplegia 72a, Autosomal Dominant; SPG72A
OMIM:620606 Spastic Paraplegia 72b, Autosomal Recessive; SPG72B
OMIM:616282 Spastic Paraplegia 73, Autosomal Dominant; SPG73
OMIM:616451 Spastic Paraplegia 74, Autosomal Recessive; SPG74
OMIM:616680 Spastic Paraplegia 75, Autosomal Recessive; SPG75
OMIM:616907 Spastic Paraplegia 76, Autosomal Recessive; SPG76
OMIM:617046 Spastic Paraplegia 77, Autosomal Recessive; SPG77
OMIM:617225 Spastic Paraplegia 78, Autosomal Recessive; SPG78
OMIM:620221 Spastic Paraplegia 79a, Autosomal Dominant, with Ataxia; SPG79A
OMIM:615491 Spastic Paraplegia 79b, Autosomal Recessive; SPG79B
OMIM:607259 Spastic Paraplegia 7, Autosomal Recessive; SPG7
OMIM:618418 Spastic Paraplegia 80, Autosomal Dominant; SPG80
OMIM:618768 Spastic Paraplegia 81, Autosomal Recessive; SPG81
OMIM:618770 Spastic Paraplegia 82, Autosomal Recessive; SPG82
OMIM:619027 Spastic Paraplegia 83, Autosomal Recessive; SPG83
OMIM:619621 Spastic Paraplegia 84, Autosomal Recessive; SPG84
OMIM:619686 Spastic Paraplegia 85, Autosomal Recessive; SPG85
OMIM:619735 Spastic Paraplegia 86, Autosomal Recessive; SPG86
OMIM:619966 Spastic Paraplegia 87, Autosomal Recessive; SPG87
OMIM:620106 Spastic Paraplegia 88, Autosomal Dominant; SPG88
OMIM:620379 Spastic Paraplegia 89, Autosomal Recessive; SPG89
OMIM:603563 Spastic Paraplegia 8, Autosomal Dominant; SPG8
OMIM:620416 Spastic Paraplegia 90a, Autosomal Dominant; SPG90A
OMIM:620417 Spastic Paraplegia 90b, Autosomal Recessive; SPG90B
OMIM:620538 Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia; SPG91
OMIM:620911 Spastic Paraplegia 92, Autosomal Recessive; SPG92
OMIM:620938 Spastic Paraplegia 93, Autosomal Recessive; SPG93
OMIM:601162 Spastic Paraplegia 9a, Autosomal Dominant; SPG9A
OMIM:616586 Spastic Paraplegia 9b, Autosomal Recessive; SPG9B
OMIM:601608 Spastic Paraplegia and Evans Syndrome
OMIM:616756 Spastic Paraplegia and Psychomotor Retardation with or without Seizures;
OMIM:607565 Spastic Paraplegia, Ataxia, and Impaired Intellectual Development
OMIM:182610 Spastic Paraplegia, Epilepsy, and Impaired Intellectual Development;
OMIM:617296 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity;
OMIM:182830 Spastic Paraplegia, Optic Atrophy, and Dementia
OMIM:609541 Spastic Paraplegia, Optic Atrophy, and Neuropathy; SPOAN
OMIM:603117 Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
OMIM:182690 Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, and Progressive Nephropathy
OMIM:182800 Spastic Paraplegia with Associated Extrapyramidal Signs
OMIM:270805 Spastic Paraplegia with Myoclonic Epilepsy
OMIM:182815 Spastic Paraplegia with Neuropathy and Poikiloderma
OMIM:182820 Spastic Paraplegia with Precocious Puberty
OMIM:270850 Spastic Paresis, Glaucoma, and Impaired Intellectual Development
OMIM:270900 Spastic Pseudosclerosis
OMIM:270950 Spastic Quadriplegia, Retinitis Pigmentosa, and Impaired Intellectual Development
OMIM:618598 Spastic Tetraplegia and Axial Hypotonia, Progressive; STAHP
OMIM:616657 Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly; SPATCCM
OMIM:313000 Spatial Visualization, Aptitude for
OMIM:245480 Specific Granule Deficiency 1; SGD1
OMIM:617475 Specific Granule Deficiency 2; SGD2
OMIM:606711 Specific Language Impairment 1; SLI1
OMIM:606712 Specific Language Impairment 2; SLI2
OMIM:607134 Specific Language Impairment 3; SLI3
OMIM:612514 Specific Language Impairment 4; SLI4
OMIM:615432 Specific Language Impairment 5; SLI5
OMIM:182875 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
OMIM:602081 Speech-Language Disorder 1; SPCH1
OMIM:608445 Speech-Sound Disorder
OMIM:614822 Spermatogenic Failure 10; SPGF10
OMIM:615081 Spermatogenic Failure 11; SPGF11
OMIM:615413 Spermatogenic Failure 12; SPGF12
OMIM:615841 Spermatogenic Failure 13; SPGF13
OMIM:615842 Spermatogenic Failure 14; SPGF14
OMIM:616950 Spermatogenic Failure 15; SPGF15
OMIM:617187 Spermatogenic Failure 16; SPGF16
OMIM:617214 Spermatogenic Failure 17; SPGF17
OMIM:617576 Spermatogenic Failure 18; SPGF18
OMIM:617592 Spermatogenic Failure 19; SPGF19
OMIM:258150 Spermatogenic Failure 1; SPGF1
OMIM:617593 Spermatogenic Failure 20; SPGF20
OMIM:617644 Spermatogenic Failure 21; SPGF21
OMIM:617706 Spermatogenic Failure 22; SPGF22
OMIM:617707 Spermatogenic Failure 23; SPGF23
OMIM:617959 Spermatogenic Failure 24; SPGF24
OMIM:617960 Spermatogenic Failure 25; SPGF25
OMIM:617961 Spermatogenic Failure 26; SPGF26
OMIM:617965 Spermatogenic Failure 27; SPGF27
OMIM:618086 Spermatogenic Failure 28; SPGF28
OMIM:618091 Spermatogenic Failure 29; SPGF29
OMIM:108420 Spermatogenic Failure 2; SPGF2
OMIM:618110 Spermatogenic Failure 30; SPGF30
OMIM:618112 Spermatogenic Failure 31; SPGF31
OMIM:618115 Spermatogenic Failure 32; SPGF32
OMIM:618152 Spermatogenic Failure 33; SPGF33
OMIM:618153 Spermatogenic Failure 34; SPGF34
OMIM:618341 Spermatogenic Failure 35; SPGF35
OMIM:618420 Spermatogenic Failure 36; SPGF36
OMIM:618429 Spermatogenic Failure 37; SPGF37
OMIM:618433 Spermatogenic Failure 38; SPGF38
OMIM:618643 Spermatogenic Failure 39; SPGF39
OMIM:606766 Spermatogenic Failure 3; SPGF3
OMIM:618664 Spermatogenic Failure 40; SPGF40
OMIM:618670 Spermatogenic Failure 41; SPGF41
OMIM:618745 Spermatogenic Failure 42; SPGF42
OMIM:618751 Spermatogenic Failure 43; SPGF43
OMIM:619044 Spermatogenic Failure 44; SPGF44
OMIM:619094 Spermatogenic Failure 45; SPGF45
OMIM:619095 Spermatogenic Failure 46; SPGF46
OMIM:619102 Spermatogenic Failure 47; SPGF47
OMIM:619108 Spermatogenic Failure 48; SPGF48
OMIM:619144 Spermatogenic Failure 49; SPGF49
OMIM:270960 Spermatogenic Failure 4; SPGF4
OMIM:619145 Spermatogenic Failure 50; SPGF50
OMIM:619177 Spermatogenic Failure 51; SPGF51
OMIM:619202 Spermatogenic Failure 52; SPGF52
OMIM:619258 Spermatogenic Failure 53; SPGF53
OMIM:619379 Spermatogenic Failure 54; SPGF54
OMIM:619380 Spermatogenic Failure 55; SPGF55
OMIM:619515 Spermatogenic Failure 56; SPGF56
OMIM:619528 Spermatogenic Failure 57; SPGF57
OMIM:619585 Spermatogenic Failure 58; SPGF58
OMIM:619645 Spermatogenic Failure 59; SPGF59
OMIM:243060 Spermatogenic Failure 5; SPGF5
OMIM:619646 Spermatogenic Failure 60; SPGF60
OMIM:619672 Spermatogenic Failure 61; SPGF61
OMIM:619673 Spermatogenic Failure 62; SPGF62
OMIM:619689 Spermatogenic Failure 63; SPGF63
OMIM:619696 Spermatogenic Failure 64; SPGF64
OMIM:619712 Spermatogenic Failure 65; SPGF65
OMIM:619799 Spermatogenic Failure 66; SPGF66
OMIM:619803 Spermatogenic Failure 67; SPGF67
OMIM:619805 Spermatogenic Failure 68; SPGF68
OMIM:619826 Spermatogenic Failure 69; SPGF69
OMIM:102530 Spermatogenic Failure 6; SPGF6
OMIM:619828 Spermatogenic Failure 70; SPGF70
OMIM:619831 Spermatogenic Failure 71; SPGF71
OMIM:619867 Spermatogenic Failure 72; SPGF72
OMIM:619878 Spermatogenic Failure 73; SPGF73
OMIM:619937 Spermatogenic Failure 74; SPGF74
OMIM:619949 Spermatogenic Failure 75; SPGF75
OMIM:620084 Spermatogenic Failure 76; SPGF76
OMIM:620103 Spermatogenic Failure 77; SPGF77
OMIM:620170 Spermatogenic Failure 78; SPGF78
OMIM:620196 Spermatogenic Failure 79; SPGF79
OMIM:612997 Spermatogenic Failure 7; SPGF7
OMIM:620222 Spermatogenic Failure 80; SPGF80
OMIM:620277 Spermatogenic Failure 81; SPGF81
OMIM:620353 Spermatogenic Failure 82; SPGF82
OMIM:620354 Spermatogenic Failure 83; SPGF83
OMIM:620409 Spermatogenic Failure 84; SPGF84
OMIM:620490 Spermatogenic Failure 85; SPGF85
OMIM:620499 Spermatogenic Failure 86; SPGF86
OMIM:620500 Spermatogenic Failure 87; SPGF87
OMIM:620547 Spermatogenic Failure 88; SPGF88
OMIM:620705 Spermatogenic Failure 89; SPGF89
OMIM:613957 Spermatogenic Failure 8; SPGF8
OMIM:620744 Spermatogenic Failure 90; SPGF90
OMIM:620838 Spermatogenic Failure 91; SPGF91
OMIM:620848 Spermatogenic Failure 92; SPGF92
OMIM:620849 Spermatogenic Failure 93; SPGF93
OMIM:620850 Spermatogenic Failure 94; SPGF94
OMIM:620917 Spermatogenic Failure 95; SPGF95
OMIM:621001 Spermatogenic Failure 96; SPGF96
OMIM:613958 Spermatogenic Failure 9; SPGF9
OMIM:305700 Spermatogenic Failure, X-Linked, 1; SPGFX1
OMIM:309120 Spermatogenic Failure, X-Linked, 2; SPGFX2
OMIM:301059 Spermatogenic Failure, X-Linked, 3; SPGFX3
OMIM:301077 Spermatogenic Failure, X-Linked, 4; SPGFX4
OMIM:301099 Spermatogenic Failure, X-Linked, 5; SPGFX5
OMIM:301101 Spermatogenic Failure, X-Linked, 6; SPGFX6
OMIM:301106 Spermatogenic Failure, X-Linked, 7; SPGFX7
OMIM:301119 Spermatogenic Failure, X-Linked, 8; SPGFX8
OMIM:400042 Spermatogenic Failure, Y-Linked, 1; SPGFY1
OMIM:415000 Spermatogenic Failure, Y-Linked, 2; SPGFY2
OMIM:182882 Sperm Protamine P4; PRM4
OMIM:601876 Sperm-Specific Antigen 1; SSFA1
OMIM:182900 Spherocytosis, Type 1; SPH1
OMIM:616649 Spherocytosis, Type 2; SPH2
OMIM:270970 Spherocytosis, Type 3; SPH3
OMIM:612653 Spherocytosis, Type 4; SPH4
OMIM:612690 Spherocytosis, Type 5; SPH5
OMIM:313200 Spinal and Bulbar Muscular Atrophy, X-Linked 1; SMAX1
OMIM:182950 Spinal Arachnoiditis
OMIM:601344 Spinal Dysplasia, Anhalt Type
OMIM:182990 Spinal Intradural Arachnoid Cysts
OMIM:182970 Spinal Muscular Atrophy, Facioscapulohumeral Type
OMIM:619042 Spinal Muscular Atrophy, Infantile, James Type; SMAJI
OMIM:615048 Spinal Muscular Atrophy, Jokela Type; SMAJ
OMIM:182980 Spinal Muscular Atrophy, Late-Onset, Finkel Type; SMAFK
OMIM:158600 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant; SMALED1
OMIM:615290 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant; SMALED2A
OMIM:618291 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant; SMALED2B
OMIM:271200 Spinal Muscular Atrophy, Ryukyuan Type
OMIM:271220 Spinal Muscular Atrophy, Scapuloperoneal
OMIM:183020 Spinal Muscular Atrophy, Segmental
OMIM:253400 Spinal Muscular Atrophy, Type III; SMA3
OMIM:253550 Spinal Muscular Atrophy, Type II; SMA2
OMIM:253300 Spinal Muscular Atrophy, Type I; SMA1
OMIM:271150 Spinal Muscular Atrophy, Type IV; SMA4
OMIM:616866 Spinal Muscular Atrophy with Congenital Bone Fractures 1; SMABF1
OMIM:616867 Spinal Muscular Atrophy with Congenital Bone Fractures 2; SMABF2
OMIM:271109 Spinal Muscular Atrophy with Impaired Intellectual Development
OMIM:271110 Spinal Muscular Atrophy with Microcephaly and Impaired Intellectual Development
OMIM:159950 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy; SMAPME
OMIM:301830 Spinal Muscular Atrophy, X-Linked 2; SMAX2
OMIM:603516 Spinocerebellar Ataxia 10; SCA10
OMIM:604432 Spinocerebellar Ataxia 11; SCA11
OMIM:604326 Spinocerebellar Ataxia 12; SCA12
OMIM:605259 Spinocerebellar Ataxia 13; SCA13
OMIM:605361 Spinocerebellar Ataxia 14; SCA14
OMIM:606658 Spinocerebellar Ataxia 15; SCA15
OMIM:607136 Spinocerebellar Ataxia 17; SCA17
OMIM:607458 Spinocerebellar Ataxia 18; SCA18
OMIM:607346 Spinocerebellar Ataxia 19; SCA19
OMIM:164400 Spinocerebellar Ataxia 1; SCA1
OMIM:608687 Spinocerebellar Ataxia 20; SCA20
OMIM:607454 Spinocerebellar Ataxia 21; SCA21
OMIM:610245 Spinocerebellar Ataxia 23; SCA23
OMIM:608703 Spinocerebellar Ataxia 25; SCA25
OMIM:609306 Spinocerebellar Ataxia 26; SCA26
OMIM:193003 Spinocerebellar Ataxia 27a; SCA27A
OMIM:620174 Spinocerebellar Ataxia 27b, Late-Onset; SCA27B
OMIM:610246 Spinocerebellar Ataxia 28; SCA28
OMIM:117360 Spinocerebellar Ataxia 29; SCA29
OMIM:183090 Spinocerebellar Ataxia 2; SCA2
OMIM:613371 Spinocerebellar Ataxia 30; SCA30
OMIM:117210 Spinocerebellar Ataxia 31; SCA31
OMIM:613909 Spinocerebellar Ataxia 32; SCA32
OMIM:133190 Spinocerebellar Ataxia 34; SCA34
OMIM:613908 Spinocerebellar Ataxia 35; SCA35
OMIM:614153 Spinocerebellar Ataxia 36; SCA36
OMIM:615945 Spinocerebellar Ataxia 37; SCA37
OMIM:615957 Spinocerebellar Ataxia 38; SCA38
OMIM:616053 Spinocerebellar Ataxia 40; SCA40
OMIM:616410 Spinocerebellar Ataxia 41; SCA41
OMIM:618087 Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits; SCA42ND
OMIM:616795 Spinocerebellar Ataxia 42; SCA42
OMIM:617018 Spinocerebellar Ataxia 43; SCA43
OMIM:617691 Spinocerebellar Ataxia 44; SCA44
OMIM:617769 Spinocerebellar Ataxia 45; SCA45
OMIM:617770 Spinocerebellar Ataxia 46; SCA46
OMIM:617931 Spinocerebellar Ataxia 47; SCA47
OMIM:618093 Spinocerebellar Ataxia 48; SCA48
OMIM:619806 Spinocerebellar Ataxia 49; SCA49
OMIM:600223 Spinocerebellar Ataxia 4; SCA4
OMIM:620158 Spinocerebellar Ataxia 50; SCA50
OMIM:620947 Spinocerebellar Ataxia 51; SCA51
OMIM:600224 Spinocerebellar Ataxia 5; SCA5
OMIM:183086 Spinocerebellar Ataxia 6; SCA6
OMIM:164500 Spinocerebellar Ataxia 7; SCA7
OMIM:608768 Spinocerebellar Ataxia 8; SCA8
OMIM:612876 Spinocerebellar Ataxia 9; SCA9
OMIM:613728 Spinocerebellar Ataxia, Autosomal Recessive 10; SCAR10
OMIM:614229 Spinocerebellar Ataxia, Autosomal Recessive 11; SCAR11
OMIM:614322 Spinocerebellar Ataxia, Autosomal Recessive 12; SCAR12
OMIM:614831 Spinocerebellar Ataxia, Autosomal Recessive 13; SCAR13
OMIM:615386 Spinocerebellar Ataxia, Autosomal Recessive 14; SCAR14
OMIM:615705 Spinocerebellar Ataxia, Autosomal Recessive 15; SCAR15
OMIM:615768 Spinocerebellar Ataxia, Autosomal Recessive 16; SCAR16
OMIM:616127 Spinocerebellar Ataxia, Autosomal Recessive 17; SCAR17
OMIM:616204 Spinocerebellar Ataxia, Autosomal Recessive 18; SCAR18
OMIM:616354 Spinocerebellar Ataxia, Autosomal Recessive 20; SCAR20
OMIM:616719 Spinocerebellar Ataxia, Autosomal Recessive 21; SCAR21
OMIM:616948 Spinocerebellar Ataxia, Autosomal Recessive 22; SCAR22
OMIM:616949 Spinocerebellar Ataxia, Autosomal Recessive 23; SCAR23
OMIM:617133 Spinocerebellar Ataxia, Autosomal Recessive 24; SCAR24
OMIM:617584 Spinocerebellar Ataxia, Autosomal Recessive 25; SCAR25
OMIM:617633 Spinocerebellar Ataxia, Autosomal Recessive 26; SCAR26
OMIM:618369 Spinocerebellar Ataxia, Autosomal Recessive 27; SCAR27
OMIM:618800 Spinocerebellar Ataxia, Autosomal Recessive 28; SCAR28
OMIM:619389 Spinocerebellar Ataxia, Autosomal Recessive 29; SCAR29
OMIM:213200 Spinocerebellar Ataxia, Autosomal Recessive 2; SCAR2
OMIM:619405 Spinocerebellar Ataxia, Autosomal Recessive 30; SCAR30
OMIM:619422 Spinocerebellar Ataxia, Autosomal Recessive 31; SCAR31
OMIM:619862 Spinocerebellar Ataxia, Autosomal Recessive 32; SCAR32
OMIM:620208 Spinocerebellar Ataxia, Autosomal Recessive 33; SCAR33
OMIM:613227 Spinocerebellar Ataxia, Autosomal Recessive 34; SCAR34
OMIM:271250 Spinocerebellar Ataxia, Autosomal Recessive 3; SCAR3
OMIM:607317 Spinocerebellar Ataxia, Autosomal Recessive 4; SCAR4
OMIM:608029 Spinocerebellar Ataxia, Autosomal Recessive 6; SCAR6
OMIM:609270 Spinocerebellar Ataxia, Autosomal Recessive 7; SCAR7
OMIM:610743 Spinocerebellar Ataxia, Autosomal Recessive 8; SCAR8
OMIM:607250 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1; SCAN1
OMIM:606002 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2; SCAN2
OMIM:618387 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3; SCAN3
OMIM:271270 Spinocerebellar Ataxia with Dysmorphism
OMIM:183050 Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy
OMIM:302500 Spinocerebellar Ataxia, X-Linked 1; SCAX1
OMIM:302600 Spinocerebellar Ataxia, X-Linked 2
OMIM:301790 Spinocerebellar Ataxia, X-Linked 3
OMIM:301840 Spinocerebellar Ataxia, X-Linked 4
OMIM:300703 Spinocerebellar Ataxia, X-Linked 5; SCAX5
OMIM:301310 Spinocerebellar Ataxia, X-Linked 6, with or without Sideroblastic Anemia; SCAX6
OMIM:183100 Spinocerebellar Atrophy with Pupillary Paralysis
OMIM:271310 Spinocerebellar Degeneration and Corneal Dystrophy
OMIM:271320 Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia
OMIM:271322 Spinocerebellar Degeneration with Slow Eye Movements; SDSEM
OMIM:183300 Splenogonadal Fusion with Limb Defects and Micrognathia
OMIM:183350 Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells
OMIM:271500 Splenoportal Vascular Anomalies
OMIM:183700 Split-Foot Deformity with Mandibulofacial Dysostosis
OMIM:616890 Split-Foot Malformation with Mesoaxial Polydactyly; SFMMP
OMIM:183500 Split-Hand and Split-Foot with Hypodontia
OMIM:183600 Split-Hand/Foot Malformation 1; SHFM1
OMIM:220600 Split-Hand/Foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive; SHFM1D
OMIM:313350 Split-Hand/Foot Malformation 2; SHFM2
OMIM:246560 Split-Hand/Foot Malformation 3; SHFM3
OMIM:605289 Split-Hand/Foot Malformation 4; SHFM4
OMIM:606708 Split-Hand/Foot Malformation 5; SHFM5
OMIM:225300 Split-Hand/Foot Malformation 6; SHFM6
OMIM:119100 Split-Hand/Foot Malformation with Long Bone Deficiency 1; SHFLD1
OMIM:610685 Split-Hand/Foot Malformation with Long Bone Deficiency 2; SHFLD2
OMIM:183800 Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts
OMIM:183802 Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
OMIM:183400 Split Lower Lip
OMIM:106300 Spondyloarthropathy, Susceptibility to, 1; SPDA1
OMIM:183840 Spondyloarthropathy, Susceptibility to, 2; SPDA2
OMIM:613238 Spondyloarthropathy, Susceptibility to, 3; SPDA3
OMIM:600000 Spondylocamptodactyly
OMIM:272460 Spondylocarpotarsal Synostosis Syndrome; SCT
OMIM:277300 Spondylocostal Dysostosis 1, Autosomal Recessive; SCDO1
OMIM:608681 Spondylocostal Dysostosis 2, Autosomal Recessive; SCDO2
OMIM:609813 Spondylocostal Dysostosis 3, Autosomal Recessive; SCDO3
OMIM:613686 Spondylocostal Dysostosis 4, Autosomal Recessive; SCDO4
OMIM:122600 Spondylocostal Dysostosis 5; SCDO5
OMIM:616566 Spondylocostal Dysostosis 6, Autosomal Recessive; SCDO6
OMIM:271520 Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
OMIM:607944 Spondyloenchondrodysplasia with Immune Dysregulation; SPENCDI
OMIM:612813 Spondyloepimetaphyseal Dysplasia, Aggrecan Type; SEMDAG
OMIM:608728 Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type;
OMIM:617974 Spondyloepimetaphyseal Dysplasia, Di Rocco Type; SEMDDR
OMIM:616723 Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type; SEMDFA
OMIM:610442 Spondyloepimetaphyseal Dysplasia, Genevieve Type; SEMDG
OMIM:620663 Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type; SEMDGC
OMIM:271650 Spondyloepimetaphyseal Dysplasia, Irapa Type; SEMDIT
OMIM:618728 Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type; SEMDIST
OMIM:618162 Spondyloepimetaphyseal Dysplasia, Krakow Type; SEMDK
OMIM:601096 Spondyloepimetaphyseal Dysplasia, Micromelic
OMIM:602111 Spondyloepimetaphyseal Dysplasia, Missouri Type; SEMDM
OMIM:602557 Spondyloepimetaphyseal Dysplasia, Shohat Type; SEMDSH
OMIM:271510 Spondyloepimetaphyseal Dysplasia, Sponastrime Type; SEMDSP
OMIM:184250 Spondyloepimetaphyseal Dysplasia, Strudwick Type; SEMDSTWK
OMIM:601668 Spondyloepimetaphyseal Dysplasia with Abnormal Dentition; SEMDAD
OMIM:183849 Spondyloepimetaphyseal Dysplasia with Hypotrichosis
OMIM:271640 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or without Fractures; SEMDJL1
OMIM:603546 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2; SEMDJL2
OMIM:618395 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3; SEMDJL3
OMIM:300106 Spondyloepimetaphyseal Dysplasia, X-Linked; SEMDX
OMIM:300232 Spondyloepimetaphyseal Dysplasia, X-Linked, with Hypomyelinating Leukodystrophy; SEMDHL
OMIM:611717 Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech
OMIM:183900 Spondyloepiphyseal Dysplasia Congenita; SEDC
OMIM:608361 Spondyloepiphyseal Dysplasia, Kimberley Type; SEDK
OMIM:618392 Spondyloepiphyseal Dysplasia, Kondo-Fu Type; SEDKF
OMIM:184095 Spondyloepiphyseal Dysplasia, Maroteaux Type
OMIM:184000 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
OMIM:618618 Spondyloepiphyseal Dysplasia, Nishimura Type; SEDN
OMIM:619260 Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, and Leber Congenital Amaurosis; SHILCA
OMIM:616583 Spondyloepiphyseal Dysplasia, Stanescu Type; SEDSTN
OMIM:184100 Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
OMIM:271600 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
OMIM:609223 Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
OMIM:600093 Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies
OMIM:271620 Spondyloepiphyseal Dysplasia Tarda with Impaired Intellectual Development
OMIM:313400 Spondyloepiphyseal Dysplasia Tarda, X-Linked; SEDT
OMIM:600561 Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
OMIM:143095 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations;
OMIM:602611 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Impaired Intellectual Development
OMIM:183850 Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy
OMIM:184200 Spondylolisthesis
OMIM:609616 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
OMIM:613330 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia; SMMD
OMIM:271665 Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
OMIM:184253 Spondylometaphyseal Dysplasia, Algerian Type
OMIM:602271 Spondylometaphyseal Dysplasia, Axial; SMDAX
OMIM:184255 Spondylometaphyseal Dysplasia, Corner Fracture Type; SMDCF