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Disease	Synonyms	Description
spermatogenic failure 26	SPGF26	A spermatogenic failure due to acephalic spermatoz..[+] A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. [-]
spermatogenic failure 32	SPGF32	A spermatogenic failure characterized by nonobstru..[+] A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. [-]
spermatogenic failure 39	SPGF39	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. [-]
spermatogenic failure 37	SPGF37	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. [-]
spermatogenic failure 27	SPGF27	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. [-]
spermatogenic failure 24	SPGF24	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. [-]
spermatogenic failure 29	SPGF29	A spermatogenic failure characterized by nonobstru..[+] A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. [-]
syndactyly-telecanthus-anogenital and renal malformations syndrome	syndactyly with renal and anogenital malformations.. [+] syndactyly with renal and anogenital malformations; STAR syndrome; toe syndactyly, telecanthus, and anogenital and renal malformations [-]	A syndrome characterized by toe syndactyly, teleca..[+] A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. [-]
severe congenital encephalopathy due to MECP2 mutation	severe neonatal-onset encephalopathy with microcep.. [+] severe neonatal-onset encephalopathy with microcephaly; neonatal severe encephalopathy due to MECP2 mutations [-]	A brain disease characterized by severe neonatal e..[+] A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. [-]
Sotos syndrome 2	SOTOS2	A Sotos syndrome that has_material_basis_in hetero..[+] A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. [-]
Sotos syndrome 1	SOTOS1	A Sotos syndrome that has_material_basis_in hetero..[+] A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. [-]
Sotos syndrome 3	SOTOS3	A Sotos syndrome that has_material_basis_in homozy..[+] A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. [-]
spermatogenic failure 44	SPGF44	A spermatogenic failure characterized by high prev..[+] A spermatogenic failure characterized by high prevelance of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. [-]
SHOX-related short stature	idiopathic familial short stature	A bone development disease characterized by height..[+] A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. [-]
Stocco Dos Santos type X-linked intellectual disability	Stocco dos Santos X-linked mental retardation synd.. [+] Stocco dos Santos X-linked mental retardation syndrome; SDSX [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. [-]
severe congenital neutropenia 7	SCN7; autosomal recessive severe congenital neutro.. [+] SCN7; autosomal recessive severe congenital neutropenia due to CSF3R deficiency [-]	A severe congenital neutropenia characterized by o..[+] A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. [-]
severe congenital neutropenia 2	SCN2	An autosomal dominant severe congenital neutropeni..[+] An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. [-]
severe congenital neutropenia 5	SCN5; congenital neutropenia-bone marrow fibrosis-.. [+] SCN5; congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; congenital neutropenia-myelofibrosis-nephromegaly syndrome; VPS45 deficiency [-]	A severe congenital neutropenia characterized by n..[+] A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. [-]
severe congenital neutropenia 3	SCN3; infantile agranulocytosis; Kostmann disease; .. [+] SCN3; infantile agranulocytosis; Kostmann disease; Kostmann syndrome [-]	A severe congenital neutropenia characterized by b..[+] A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. [-]
severe congenital neutropenia 6	SCN6; autosomal recessive severe congenital neutro.. [+] SCN6; autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [-]	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. [-]
severe congenital neutropenia 8	SCN8; SDSL; Shwachman-Diamond syndrome-like; autos.. [+] Shwachman-Diamond syndrome-like; SDSL; SCN8; autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities [-]	An autosomal dominant severe congenital neutropeni..[+] An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. [-]
severe congenital neutropenia 4	severe congenital neutropenia-pulmonary hypertensi.. [+] severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome; SCN4; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; Dursun syndrome [-]	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. [-]
spermatogenic failure 45	SPGF45	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. [-]
spermatogenic failure 46	SPGF46	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. [-]
spermatogenic failure 47	SPGF47	A spermatogenic failure characterized by asthenote..[+] A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. [-]
spermatogenic failure 48	SPGF48	A spermatogenic failure that is characterized by i..[+] A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. [-]
Schinzel type phocomelia	Schinzel phocomelia syndrome; severe limb deficit; .. [+] severe limb deficit; Schinzel phocomelia syndrome; AARRS; absence of ulna and fibula with severe limb deficiency; Al Awadi-Raas-Rothschild syndrome; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; aplasia/hypoplasia of limbs and pelvis; congenital absence of ulna and fibula; limb/pelvis-hypoplasia/aplasia syndrome; LPHAS [-]	A syndrome characterized by severe malformations o..[+] A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. [-]
spondyloperipheral dysplasia	spondyloperipheral dysplasia-short ulna syndrome	An osteochondrodysplasia characterized by platyspo..[+] An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
spondylometaepiphyseal dysplasia, short limb-hand type	spondylometaepiphyseal dysplasia short limb-hand t.. [+] spondylometaepiphyseal dysplasia short limb-hand type; spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome; SMED-SL/AC; SMED-SL; SMED, type II; SMED type 2; SMED short limb-hand type; SMED short limb-abnormal calcification type [-]	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. [-]
spondyloepimetaphyseal dysplasia with joint laxity	SEMDJL	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. [-]
spondyloepimetaphyseal dysplasia with joint laxity type 1	spondyloepimetaphyseal dysplasia with joint laxity.. [+] spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; SEMDJL1 [-]	A spondyloepimetaphyseal dysplasia with joint laxi..[+] A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. [-]
spondyloepimetaphyseal dysplasia with joint laxity type 2	spondyloepimetaphyseal dysplasia with multiple dis.. [+] spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; spondyloepimetaphyseal dysplasia with joint laxity type 2; spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; SEMDJL2; SEMD-MD [-]	A spondyloepimetaphyseal dysplasia with joint laxi..[+] A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. [-]
spondyloepimetaphyseal dysplasia with joint laxity type 3	SEMDJL3	A spondyloepimetaphyseal dysplasia with joint laxi..[+] A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. [-]
spermatogenic failure 52	SPGF52	A spermatogenic failure that is characterized by n..[+] A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. [-]
spermatogenic failure 49	SPGF98	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. [-]
spermatogenic failure 50	SPGF50	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. [-]
spermatogenic failure 51	SPGF51	A spermatogenic failure characterized by severe as..[+] A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. [-]
spermatogenic failure 53	SPGF53	A spermatogenic failure characterized by infertili..[+] A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. [-]
spondyloepiphyseal dysplasia	SED	An osteochondrodysplasia characterized by skeletal..[+] An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. [-]
spondyloepiphyseal dysplasia Stanescu type	SEDSTN; SED Stanescu type	A spondyloepiphyseal dysplasia characterized by ac..[+] A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. [-]
spondyloepiphyseal dysplasia Kimberley type	SEDK	A spondyloepiphyseal dysplasia that has_material_b..[+] A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. [-]
spondyloepiphyseal dysplasia Kondo-Fu type	SEDKF; SED with elevated blood lysosomal enzymes	A spondyloepiphyseal dysplasia that has_material_b..[+] A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. [-]
spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia characterized by im..[+] A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. [-]
spondyloepiphyseal dysplasia with punctate corneal dystrophy		A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. [-]
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech	spondyloepiphyseal dysplasia, Cantu type; SED-BDS; .. [+] SED-BDS; spondyloepiphyseal dysplasia, Cantu type; SED-brachydactyly and distinctive speech; Fantasy Island syndrome; Tattoo dysplasia [-]	A spondyloepiphyseal dysplasia characterized by sp..[+] A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. [-]
spondyloepiphyseal dysplasia Nishimura type	SEDN	A spondyloepiphyseal dysplasia characterized by di..[+] A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. [-]
spondyloepiphyseal dysplasia tarda with characteristic facies		A spondyloepiphyseal dysplasia tarda characterized..[+] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. [-]
spondyloepiphyseal dysplasia tarda with intellectual disability		A spondyloepiphyseal dysplasia tarda characterized..[+] A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. [-]
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability		A syndrome characterized by spondyloepiphyseal dys..[+] A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. [-]
spondylometaphyseal dysplasia		An osteochondrodysplasia characterized by platyspo..[+] An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. [-]

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