Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [S]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• Short stature heart defect and craniofacial anomalies - See Rommen Mueller Sybert syndrome
• Short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities - See Pfeiffer Mayer syndrome
• Short stature microcephaly heart defect - See D ercole syndrome
• Short stature syndrome, Brussels type
• Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice - See Pfeiffer Palm Teller syndrome
• Short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes - See Floating-Harbor syndrome
• Short stature with optic atrophy and Pelger-Huët anomaly syndrome
• Short stature wormian bones dextrocardia
• Short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation - See Megarbane syndrome
• Short stature, brachydactyly, nail dysplasia and mental retardation - See Tonoki syndrome
• Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies - See KBG syndrome
• Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges - See Berk-Tabatznik syndrome
• Short stature, facial dysmorphism, severe brachydactyly and syndactyly - See Dauwerse-Peters syndrome
• Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay - See SHORT syndrome
• Short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease - See Al Gazali Aziz Salem syndrome
• Short stature, mental retardation and multiple dysmorphisms - See Pfeiffer Kapferer syndrome
• Short stature, pituitary and cerebellar defects and small sella turcica - See Pituitary hormone deficiency, combined 4
• Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot - See Richieri Costa Pereira syndrome
• Short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes - See X-linked intellectual disability, Abidi type
• Short stature, webbed neck, heart disease - See Al Gazali Aziz Salem syndrome
• Short stature-craniofacial anomalies-genital hypoplasia syndrome
• Short stature-pituitary and cerebellar defects-small sella turcica syndrome - See Pituitary hormone deficiency, combined 4
• SHORT syndrome
• Short tarsus absence of lower eyelashes - See Lopes Gorlin syndrome
• Short umbilical cord syndrome - See Limb-body wall complex
• Short-chain acyl-CoA dehydrogenase deficiency
• Short-chain acyl-coenzyme A dehydrogenase deficiency - See Short-chain acyl-CoA dehydrogenase deficiency
• Short-chain enoyl-CoA hydratase deficiency - See Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
• Short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms
• Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing - See SUNCT headache
• Short-limb skeletal dysplasia with severe combined immunodeficiency
• Short-rib thoracic dysplasia 6 with or without polydactyly - See Short rib-polydactyly syndrome, Majewski type
• Shoulder and girdle defects-familial intellectual disability syndrome - See Shoulder girdle defect mental retardation familial
• Shoulder girdle defect mental retardation familial
• Shprintzen omphalocele syndrome
• Shprintzen syndrome - See 22q11.2 deletion syndrome
• Shprintzen-Goldberg craniosynostosis syndrome
• Shprintzen-Goldberg marfanoid syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
• Shprintzen-Goldberg omphalocele syndrome - See Shprintzen omphalocele syndrome
• Shprintzen-Goldberg syndrome - See Shprintzen-Goldberg craniosynostosis syndrome
• SHSF2 - See Split hand/foot malformation X-linked
• Shulman syndrome - See Eosinophilic fasciitis
• Shwachman-Bodian syndrome - See Shwachman-Diamond syndrome
• Shwachman-Diamond syndrome
• Shwartzman phenomenon
• Shy-Dragger syndrome (formerly) - See Multiple system atrophy
• Shy-Magee syndrome - See Central core disease
• SI deficiency - See Congenital sucrase-isomaltase deficiency
• SIADH - See Syndrome of inappropriate antidiuretic hormone - not a rare disease
• Sialadenitis
• Sialadenitis, xanthogranulomatous - See Xanthogranulomatous sialadenitis
• Sialic acid storage disease - See Free sialic acid storage disease
• Sialidase deficiency - See Sialidosis, type II
• Sialidosis type I
• Sialidosis, type II
• Sialoadenitis - See Sialadenitis
• Sialuria - See Sialuria, French type
• Sialuria, Finnish type - See Free sialic acid storage disease
• Sialuria, French type
• Sialuria, infantile form - See Free sialic acid storage disease
• SIANRF - See Spinal muscular atrophy with respiratory distress 1
• Siberian Plague - See Anthrax
• Sicca syndrome - See Sjogren syndrome - not a rare disease
• Sickle beta thalassemia
• Sickle cell - beta-thalassemia disease - See Sickle beta thalassemia
• Sickle cell - hemoglobin C disease - See Hemoglobin SC disease
• Sickle cell - hemoglobin D disease
• Sickle cell - hemoglobin E disease - See Hemoglobin SE disease - not a rare disease
• Sickle cell anemia
• Sickle cell disease associated with an other hemoglobin anomaly - See Hemoglobinopathy
• Sickle cell-beta-thalassemia disease syndrome - See Sickle beta thalassemia
• Sickle cell-hemoglobin C disease syndrome - See Hemoglobin SC disease
• Sickle cell-hemoglobin D disease syndrome - See Sickle cell - hemoglobin D disease
• Sickle cell-hemoglobin E disease syndrome - See Hemoglobin SE disease - not a rare disease
• Sickle delta beta thalassemia
• Sickling disorder due to hemoglobin S - See Sickle cell anemia
• Sickness of disembarkment - See Mal de debarquement syndrome
• SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome - See Susac syndrome
• SIDDT - See Sudden infant death with dysgenesis of the testes syndrome
• Siderius Hamel syndrome - See X-linked intellectual disability, Siderius type
• Sideroblastic anemia - not a rare disease
• Sideroblastic anemia and mitochondrial myopathy
• Sideroblastic anemia pyridoxine-refractory autosomal recessive
• Sideroblastic anemia pyridoxine-responsive autosomal recessive
• Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly) - See Pearson syndrome
• Sideroblastic anemia with spinocerebellar ataxia - See Anemia sideroblastic and spinocerebellar ataxia
• Sideroblastic anemia X-linked - See X-linked sideroblastic anemia
• Sideropenic dysphagia - See Plummer Vinson syndrome
• Siderosis
• Sidransky Feinstein Goodman syndrome - See Ichthyosis cheek eyebrow syndrome
• SIDS - See Sudden infant death syndrome
• Siegler Brewer Carey syndrome
• Siewert syndrome - See Kartagener syndrome
• SIgMD - See Selective IgM deficiency
• Signet cell adenocarcinoma - See Diffuse gastric cancer
• Signet ring cell carcinoma - See Diffuse gastric cancer
• Signet ring cell gastric carcinoma - See Diffuse gastric cancer
• Signet ring gastric carcinoma - See Diffuse gastric cancer
• Silengo Lerone Pelizza syndrome
• Silicosiderosis
• Silicosis
• Sillence syndrome
• Silver Russell syndrome - See Russell-Silver syndrome
• Silver spastic paraplegia syndrome - See Spastic paraplegia 17
• Silver syndrome - See Spastic paraplegia 17
• Silver-Russell dwarfism - See Russell-Silver syndrome
• Silver-Russell syndrome - See Russell-Silver syndrome
• Simian B virus infection
• Simmond's disease - See Sheehan syndrome
• Simosa cranio facial syndrome
• Simosa craniofacial syndrome - See Simosa cranio facial syndrome
• Simple kaolinosis - See Kaolin pneumoconiosis
• Simpson dysmorphia syndrome - See Simpson-Golabi-Behmel syndrome
• Simpson-Golabi-Behmel syndrome
• Simultanagnosia
• Singapore hemorrhagic fever - See Dengue fever
• Singh Chhaparwal Dhanda syndrome
• Single central maxillary incisor - See Single upper central incisor
• Single upper central incisor
• Single ventricle - See Single ventricular heart
• Single ventricular heart
• Singleton-Merten dysplasia - See Singleton-Merten syndrome
• Singleton-Merten syndrome
• Sinonasal eosinophilic angiocentric fibrosis - See EAF
• Sinonasal teratocarcinosarcoma (type) - See Malignant Teratocarcinosarcoma
• Sinonasal undifferentiated carcinoma
• Sinus cancer
• Sinus histiocytosis with massive lymphadenopathy - See Rosai-Dorfman disease
• Sinus node disease and myopia
• Sinus of Valsalva aneurysm - See Aneurysm of sinus of Valsalva
• Sinus venosus ASD - See Atrial septal defect sinus venosus
• Sinus venosus atrial septal defects - See Atrial septal defect sinus venosus
• Sinusitis-infertility syndrome - See Young syndrome
• Sinusoidal obstruction syndrome - See Hepatic veno-occlusive disease
• SIOD - See Schimke immunoosseous dysplasia
• Sipple syndrome - See Multiple endocrine neoplasia type 2A
• Sirenomelia
• Sirenomelia sequence - See Sirenomelia
• Sirenomelus - See Sirenomelia
• Sitosterolemia
• Situs ambiguous - See Heterotaxy
• Situs ambiguus - See Heterotaxy
• Situs inversus
• Situs inversus totalis - See Dextrocardia with situs inversus
• Situs inversus totalis with cystic dysplasia of kidneys and pancreas
• Situs inversus viscerum - See Situs inversus
• Situs inversus with levocardia - See Isolated levocardia
• Situs inversus, complex cardiac defects, and splenic defects, X-linked - See X-linked visceral heterotaxy 1
• Situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs ,severe intrauterine growth retardation, and oligohydramnios - See Situs inversus totalis with cystic dysplasia of kidneys and pancreas
• SIV - See Situs inversus
• Sixth cranial nerve palsy - See Sixth nerve palsy
• Sixth nerve palsy
• SJA syndrome - See Schwartz Jampel syndrome
• Sjogren Larsson syndrome - See Sjogren-Larsson syndrome
• Sjogren syndrome - not a rare disease
• Sjogren-Gougerot syndrome - See Sjogren syndrome - not a rare disease
• Sjogren-Larsson syndrome
• Sjögren-Larsson syndrome - See Sjogren-Larsson syndrome
• Sjogren-Larsson-like ichthyosis without CNS or eye involvement - See Sjogren-Larsson-like syndrome
• Sjogren-Larsson-like syndrome
• Sjogren's syndrome, juvenile, secondary to autoimmune disease
• SJS - See Schwartz Jampel syndrome
• SJS/TEN - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• SJS1 - See Schwartz Jampel syndrome
• SJS2 - See Stuve-Wiedemann syndrome
• Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties - See Pointer syndrome
• Skeletal abnormalities, Cutis laxa, craniostenosis, Ambiguous genitalia, Retardation, and Facial abnormalities - See SCARF syndrome
• Skeletal dysplasia brachydactyly - See Brachydactyly Mononen type
• Skeletal dysplasia Jequier-Kozlowski type - See Spondylometaphyseal dysplasia, Kozlowski type
• Skeletal dysplasia lethal with gracile bones - See Gracile bone dysplasia
• Skeletal dysplasia related to campomelic dysplasia - See Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
• Skeletal dysplasia with amelogenesis imperfecta and platyspondyly - See Verloes Bourguignon syndrome
• Skeletal dysplasia, Greenberg type - See Greenberg dysplasia
• Skeletal dysplasia, San Diego type
• Skeletal dysplasias - not a rare disease
• Skeletal-extraskeletal angiomatosis
• Skeleton skin brain syndrome - See Severe achondroplasia with developmental delay and acanthosis nigricans
• Skin anthrax - See Cutaneous anthrax
• Skin cancer - not a rare disease
• Skin fragility woolly hair syndrome - See Skin fragility-woolly hair-palmoplantar keratoderma syndrome
• Skin fragility-woolly hair-palmoplantar keratoderma syndrome
• Skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation - See Mastocytosis cutaneous with short stature conductive hearing loss and microtia
• Skin peeling syndrome - See Peeling skin syndrome
• Slavotinek Pike Mills Hurst syndrome
• SLC13A5 deficiency - See Early infantile epileptic encephalopathy 25
• SLC29A3 spectrum disorder - See Histiocytosis-lymphadenopathy plus syndrome
• SLC35A1-CDG - See SLC35A1-CDG (CDG-IIf)
• SLC35A1-CDG (CDG-IIf)
• SLC35A2-CDG
• SLC35C1-CDG (CDG-IIc)
• SLC4A1-associated distal renal tubular acidosis
• SLC6A3-Related Dopamine Transporter Deficiency Syndrome - See Dopamine transporter deficiency syndrome
• SLE - See Lupus - not a rare disease
• Sleeping sickness - See Trypanosomiasis, Human East-African
• Slipped capital femoral epiphysis - not a rare disease
• Slipped capital femoral epiphysis. - See Slipped capital femoral epiphysis - not a rare disease
• Slipped upper femoral epiphysis - See Slipped capital femoral epiphysis - not a rare disease
• SLK - See Superior limbic keratoconjunctivitis
• SLO syndrome - See Smith-Lemli-Opitz syndrome
• SLOS - See Smith-Lemli-Opitz syndrome
• Slow channel congenital myasthenic syndrome - See Slow-channel congenital myasthenic syndrome
• Slow-channel congenital myasthenic syndrome
• SLS - See Sjogren-Larsson syndrome
• SLSD with SCID - See Short-limb skeletal dysplasia with severe combined immunodeficiency
• SLSJ syndrome - See MPI-CDG (CDG-Ib)
• Slti Salem syndrome
• Sly syndrome - See Mucopolysaccharidosis type VII
• SM syndrome - See Singleton-Merten syndrome
• SMA - See Spinal muscular atrophy
• SMA - See Proximal spinal muscular atrophy
• SMA 3 - See Spinal muscular atrophy type 3
• SMA 4 - See Spinal muscular atrophy type 4
• SMA II - See Spinal muscular atrophy type 2
• SMA type 1 - See Spinal muscular atrophy 1
• SMA type I - See Spinal muscular atrophy 1
• SMA, infantile acute form - See Spinal muscular atrophy 1
• SMA1 - See Spinal muscular atrophy 1
• SMA1 with congenital bone fractures - See Spinal muscular atrophy type 1 with congenital bone fractures
• SMA2 - See Spinal muscular atrophy type 2
• SMA3 - See Spinal muscular atrophy type 3
• SMA-I - See Spinal muscular atrophy 1
• SMALED1 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• SMA-LED1 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• SMALED2 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Small benign fibrovascular tumor of the dermal part of the hair disk - See Familial multiple trichodiscomas
• Small bowel adenocarcinoma - See Small Intestinal Adenocarcinoma
• Small bowel tumors - See Small intestine cancer
• Small cell bladder cancer - See Small cell carcinoma of the bladder
• Small cell bladder carcinoma - See Small cell carcinoma of the bladder
• Small cell carcinoma of the bladder
• Small cell carcinoma of the ovary - See Ovarian small cell carcinoma
• Small cell carcinoma of the urinary bladder - See Small cell carcinoma of the bladder
• Small cell lung cancer
• Small Cell Neuroendocrine Carcinoma of the Lung - See Small cell lung cancer
• Small cell variant of anaplastic large cell lymphoma - See Anaplastic small cell lymphoma
• Small Intestinal Adenocarcinoma
• Small intestinal atresia - See Jejunal atresia
• Small intestinal atresia - See Atresia of small intestine
• Small intestine atresia - See Atresia of small intestine
• Small intestine cancer
• Small patella syndrome
• Smallpox
• SMARD1 - See Spinal muscular atrophy with respiratory distress 1
• SMCD - See Systemic mastocytosis
• SMD - See Spondyloepimetaphyseal dysplasia Strudwick type
• SMD Axial - See Axial spondylometaphyseal dysplasia
• SMD Kozlowski type - See Spondylometaphyseal dysplasia, Kozlowski type
• SMD with with bowed forearms and facial dysmorphism - See Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
• SMD-CRD - See Spondylometaphyseal dysplasia with cone-rod dystrophy
• SME - See Dravet syndrome
• SMECE - See Sclerosing mucoepidermoid carcinoma with eosinophilia
• Smed short limb-abnormal calcification type - See Spondylometaepiphyseal dysplasia short limb-hand type
• SMED short limb-hand type - See Spondylometaepiphyseal dysplasia short limb-hand type
• SMED Strudwick type - See Spondyloepimetaphyseal dysplasia Strudwick type
• SMED type 1 - See Spondyloepimetaphyseal dysplasia Strudwick type
• SMED type 2 - See Spondylometaepiphyseal dysplasia short limb-hand type
• SMED-SL - See Spondylometaepiphyseal dysplasia short limb-hand type
• SMEI - See Dravet syndrome
• Smith Fineman Myers syndrome - See Mental retardation Smith Fineman Myers type
• Smith Lemli Opitz syndrome - See Smith-Lemli-Opitz syndrome
• Smith McCort dysplasia
• Smith-Fineman-Myers syndrome - See Juberg Marsidi syndrome
• Smith-Kingsmore syndrome
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• Smith-McCort dwarfism - See Smith McCort dysplasia
• SMMCI - See Single upper central incisor
• SMNA - See Spinocerebellar ataxia 18
• SMRXS - See Mental retardation X-linked syndromic 11
• SMS - See Stiff person syndrome
• SMS - See Smith-Magenis syndrome
• SNDI - See Striatonigral degeneration infantile
• SNE - See Leigh syndrome
• Sneddon syndrome
• Sneddon Wilkinson disease - See Subcorneal pustular dermatosis
• Sneddon's syndrome - See Sneddon syndrome
• Sneddon-Wilkinson disease - See Subcorneal pustular dermatosis
• Sneezing from light exposure - See Autosomal dominant compelling helio ophthalmic outburst syndrome
• Snowflake degeneration in hereditary vitreoretinal degeneration - See Snowflake vitreoretinal degeneration
• Snowflake vitreoretinal degeneration
• Snub-nosed type of dwarfism - See Dwarfism Levi type
• SNUC - See Sinonasal undifferentiated carcinoma
• Snyder-Robinson syndrome
• SOD - See Septo-optic dysplasia spectrum
• Sodium channel muscle disease - See Hyperkalemic periodic paralysis
• Soft tissue sarcoma
• Sohar-Crisponi syndrome - See Cold-induced sweating syndrome
• Sohval Soffer syndrome
• Solitary histiocytoma - See Reticulohistiocytoma
• Solitary mastocytoma - See Cutaneous mastocytoma
• Solitary median maxillary central incisor - See Single upper central incisor
• Solitary median maxillary central incisor syndrome - See Single upper central incisor
• Solitary plasmacytoma - See Plasmacytoma
• Solitary reticulohistiocytosis - See Reticulohistiocytoma
• Somatomedin end-organ insensitivity to - See Insulin-like growth factor 1 resistance to
• Somatomedin-c resistance to - See Insulin-like growth factor 1 resistance to
• Somatomedin-secreting carcinoid - See Somatostatinoma
• Somatostatinoma
• Somatostatin-secreting pancreatic neoplasm - See Somatostatinoma
• Somatotroph adenoma - See Acromegaly
• Somerville-Van Der AA syndrome - See 7q11.23 duplication syndrome
• Sommer Hines syndrome - See Tetramelic monodactyly
• Sommer Rathbun Battles syndrome - See Aniridia renal agenesis psychomotor retardation
• Sommer-Hines syndrome - See Tetramelic monodactyly
• Sommer-Young-Wee-Frye syndrome - See Craniofacial deafness hand syndrome
• Sondheimer syndrome - See Coarse face hypotonia constipation
• Sonoda syndrome
• SOPH syndrome - See Short stature with optic atrophy and Pelger-Huët anomaly syndrome
• Sorsby syndrome - See Coloboma of macula with type B brachydactyly
• Sorsby's pseudoinflammatory macular dystrophy - See Fundus dystrophy, pseudoinflammatory, of Sorsby
• SOS1 gene related Noonan syndrome - See Noonan syndrome
• SOST - See Sclerosteosis
• Sotos syndrome
• South american blastomycosis - See Paracoccidioidomycosis
• South American pemphigus - See Pemphigus and fogo selvagem
• South American trypanosomiasis - See Chagas disease - not a rare disease
• SOX2 anophthalmia syndrome - See Syndromic microphthalmia, type 3
• SOX2-related eye disorders - See Syndromic microphthalmia, type 3
• Spahr type Metaphyseal chondrodysplasia - See Metaphyseal chondrodysplasia Spahr type
• Sparse hair and mental retardation - See Nicolaides-Baraitser syndrome
• Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay - See Crumpled helices and small mouth
• Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation - See Thumb deformity, alopecia, pigmentation anomaly
• Spasmodic dysphonia
• Spasmodic torticollis - See Cervical dystonia
• Spastic angina with healthy coronary artery
• Spastic ataxia 4, autosomal recessive - See Autosomal recessive spastic ataxia 4
• Spastic ataxia Charlevoix-Saguenay type
• Spastic ataxia of Charlevoix-Saguenay - See Spastic ataxia Charlevoix-Saguenay type
• Spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs - See Mousa Al din Al Nassar syndrome
• Spastic diplegia cerebral palsy
• Spastic diplegia infantile type
• Spastic dysphonia - See Spasmodic dysphonia
• Spastic hemiplegia cerebral palsy - See Cerebral palsy spastic hemiplegic
• Spastic hemiplegic cerebral palsy - See Cerebral palsy spastic hemiplegic
• Spastic monoplegia cerebral palsy - See Cerebral palsy spastic monoplegic
• Spastic monoplegic cerebral palsy - See Cerebral palsy spastic monoplegic
• Spastic paralysis, infantile onset ascending - See Infantile-onset ascending hereditary spastic paralysis
• Spastic paraparesis
• Spastic paraparesis - deafness - See Wells-Jankovic syndrome
• Spastic paraparesis, childhood-onset, with distal muscle wasting - See Troyer syndrome
• Spastic paraplegia - intellectual deficit - thin corpus callosum - See Spastic paraplegia 11
• Spastic paraplegia - nephritis - deafness - See Fitzsimmons Walson Mellor syndrome
• Spastic paraplegia 1
• Spastic paraplegia 10
• Spastic paraplegia 11
• Spastic paraplegia 12
• Spastic paraplegia 13
• Spastic paraplegia 14
• Spastic paraplegia 15
• Spastic paraplegia 16
• Spastic paraplegia 17
• Spastic paraplegia 18
• Spastic paraplegia 19
• Spastic paraplegia 2
• Spastic paraplegia 20 - See Troyer syndrome
• Spastic paraplegia 20, autosomal recessive - See Troyer syndrome
• Spastic paraplegia 23
• Spastic paraplegia 24
• Spastic paraplegia 25
• Spastic paraplegia 26
• Spastic paraplegia 29
• Spastic paraplegia 3
• Spastic paraplegia 31
• Spastic paraplegia 31, autosomal dominant - See Spastic paraplegia 31
• Spastic paraplegia 32
• Spastic paraplegia 35, autosomal recessive - See Fatty acid hydroxylase-associated neurodegeneration
• Spastic paraplegia 39
• Spastic paraplegia 4
• Spastic paraplegia 47 - See AP-4-Associated Hereditary Spastic Paraplegia
• Spastic paraplegia 51
• Spastic paraplegia 51, autosomal recessive - See Spastic paraplegia 51
• Spastic paraplegia 5A
• Spastic paraplegia 5B
• Spastic paraplegia 6
• Spastic paraplegia 7
• Spastic paraplegia 8
• Spastic paraplegia 9
• Spastic paraplegia and pigmentary abnormalities - See Spastic paraplegia 23
• Spastic paraplegia and retinal degeneration - See Spastic paraplegia 15
• Spastic paraplegia associated with brachydactyly type E - See Fitzsimmons-Guilbert syndrome
• Spastic paraplegia facial cutaneous lesions
• Spastic paraplegia neuropathy poikiloderma
• Spastic paraplegia type 5A - See Spastic paraplegia 5A
• Spastic paraplegia vitiligo premature graying and characteristic facies - See Spastic paraplegia 23
• Spastic paraplegia with amyotrophy of hands and feet - See Spastic paraplegia 17
• Spastic paraplegia with iron deposits in basal ganglia - See Arena syndrome
• Spastic paraplegia with precocious puberty
• Spastic paraplegia, autosomal recessive, Troyer type - See Troyer syndrome
• Spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy - See Fitzsimmons Walson Mellor syndrome
• Spastic paraplegia-epilepsy-intellectual disability syndrome
• Spastic paraplegia-glaucoma-intellectual disability syndrome
• Spastic quadriplegia cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome - See Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spastic quadriplegic cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic tetraplegia cerebral palsy - See Cerebral palsy spastic quadriplegic
• Spastic tetraplegia, thin corpus callosum, and progressive microcephaly - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
• Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• Spasticity multiple exostoses
• SPATCCM - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• SPAX4 - See Autosomal recessive spastic ataxia 4
• SPD - See Syndactyly type 2
• Spear syndrome - See Microphthalmia syndromic 9
• Specific antibody deficiency
• Specific granule deficiency - See Neutrophil-specific granule deficiency
• Specific language impairment - See Developmental dysphasia familial
• Speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering - See Epidermolysis bullosa simplex with mottled pigmentation
• Speech and language disorder with orofacial dyspraxia - See Childhood apraxia of speech
• Speech-language disorder type 1 - See Childhood apraxia of speech
• Speech-language disorder-1 - See Childhood apraxia of speech
• SPEL syndrome - See Syndactyly-polydactyly-earlobe syndrome
• SPEMR - See Spastic paraplegia-epilepsy-intellectual disability syndrome
• SPENCD - See Spondyloenchondrodysplasia
• Spermatogenesis arrest
• SPERMATOGENIC FAILURE 5 - See Macrozoospermia
• SPERMATOGENIC FAILURE 9 - See Globozoospermia
• SPG - See Hereditary spastic paraplegia
• SPG 23 - See Spastic paraplegia 23
• SPG1 - See L1 syndrome
• SPG10 - See Spastic paraplegia 10
• SPG11 - See Spastic paraplegia 11
• SPG12 - See Spastic paraplegia 12
• SPG13 - See Spastic paraplegia 13
• SPG14 - See Spastic paraplegia 14
• SPG15 - See Spastic paraplegia 15
• SPG16 - See Spastic paraplegia 16
• SPG17 - See Spastic paraplegia 17
• SPG18 - See Spastic paraplegia 18
• SPG19 - See Spastic paraplegia 19
• SPG2 - See Spastic paraplegia 2
• SPG20 - See Troyer syndrome
• SPG24 - See Spastic paraplegia 24
• SPG25 - See Spastic paraplegia 25
• SPG26 - See Spastic paraplegia 26
• SPG29 - See Spastic paraplegia 29
• SPG3 - See Spastic paraplegia 3
• SPG31 - See Spastic paraplegia 31
• SPG32 - See Spastic paraplegia 32
• SPG35 - See Fatty acid hydroxylase-associated neurodegeneration
• SPG39 - See Spastic paraplegia 39
• SPG3A - See Spastic paraplegia 3
• SPG4 - See Spastic paraplegia 4
• SPG49 - See Autosomal recessive spastic paraplegia type 49
• SPG51 - See Spastic paraplegia 51
• SPG5A - See Spastic paraplegia 5A
• SPG5B - See Spastic paraplegia 5B
• SPG6 - See Spastic paraplegia 6
• SPG7 - See Spastic paraplegia 7
• SPG8 - See Spastic paraplegia 8
• SPG9 - See Spastic paraplegia 9
• SPGF5 - See Macrozoospermia
• SPGF9 - See Globozoospermia
• Sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate - See Sakoda complex
• Spherocytic anemia - See Hereditary spherocytosis
• Spheroid body myopathy
• Spherophakia-brachymorphia syndrome - See Weill-Marchesani syndrome
• Sphingolipidoses - See Sphingolipidosis
• Sphingolipidosis
• Sphingolipidosis 1 - See Gaucher disease
• Sphingolipidosis, Tay-Sachs - See Tay-Sachs disease
• Sphingomyelin lipidosis - See Niemann-Pick disease type A
• Sphingomyelinase deficiency - See Niemann-Pick disease type A
• Spiegler-Brooke syndrome - See Brooke-Spiegler syndrome
• Spielmeyer Sjogren disease - See Neuronal ceroid lipofuscinosis 3
• Spina bifida
• Spina bifida hypospadias
• Spina bifida occulta - not a rare disease
• Spinal and bulbar muscular atrophy - See Kennedy disease
• Spinal arachnoiditis - See Arachnoiditis
• Spinal arteriovenous metameric syndrome - See Cobb syndrome
• Spinal atrophy ophthalmoplegia pyramidal syndrome
• Spinal CSF leak - See Cerebrospinal fluid leak
• Spinal disc herniation with autosomal recessive spastic paraplegia - See Spastic paraplegia 25
• Spinal dysraphism - See Spina bifida
• Spinal intradural arachnoid cysts
• Spinal meningioma
• Spinal muscular atrophy
• Spinal muscular atrophy 1
• Spinal muscular atrophy 4 - See Spinal muscular atrophy type 4
• Spinal muscular atrophy juvenile nonprogressive - See Monomelic amyotrophy
• Spinal muscular atrophy Ryukyuan type
• Spinal muscular atrophy type 1 with congenital bone fractures
• Spinal muscular atrophy type 2
• Spinal muscular atrophy type 3
• Spinal muscular atrophy type 4
• Spinal muscular atrophy type II - See Spinal muscular atrophy type 2
• Spinal muscular atrophy with respiratory distress 1
• Spinal muscular atrophy, adult form - See Spinal muscular atrophy type 4
• Spinal muscular atrophy, distal, autosomal recessive, 1 - See Spinal muscular atrophy with respiratory distress 1
• Spinal muscular atrophy, Jerash type - See Neuropathy, distal hereditary motor, Jerash type
• Spinal muscular atrophy, lower extremity-predominant 1, AD - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Spinal muscular atrophy, lower extremity-predominant 1, dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Spinal muscular atrophy, mild childhood and adolescent form - See Spinal muscular atrophy type 3
• Spinal muscular atrophy, proximal, adult, autosomal recessive - See Spinal muscular atrophy type 4
• Spinal shock
• Spindle cell rhabdomyosarcomas (type of ERMS) - See Rhabdomyosarcoma embryonal
• Spinobulbar muscular atrophy - See Kennedy disease