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Disease	Synonyms	Description	Articles	Phenotypes
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	SANDO; autosomal recessive sensory ataxic neuropat.. [+] SANDO; autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. [-]
selective pituitary thyroid hormone resistance	selective pituitary resistance to thyroid hormone; .. [+] selective pituitary resistance to thyroid hormone; familial hyperthyroidism due to inappropriate thyrotropin secretion; pituitary resistance to thyroid hormone; PRTH [-]	A hyperthyroidism characterized by mild to moderat..[+] A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. [-]
solitary median maxillary central incisor	single upper central incisor; SMMCI; single median.. [+] SMMCI; single upper central incisor; single median maxillary central incisor; single central maxillary incisor; fused incisors [-]	A tooth disease characterized by single deciduous ..[+] A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. [-]
SHORT syndrome	short stature, hyperextensibility, hernia, ocular .. [+] short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay; Aarskog-Ose-Pande syndrome; Lipodystrophy-Rieger anomaly-diabetes syndrome; Rieger anomaly-partial lipodystrophy syndrome [-]	A syndrome of multiple anomalies whose name stands..[+] A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]
STING-associated vasculopathy with onset in infancy	SAVI	An autoimmune disease of the cardiovascular system..[+] An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. [-]
spinal muscular atrophy with progressive myoclonic epilepsy	SMA-PME; SMAPME; hereditary myoclonus-progressive .. [+] SMAPME; SMA-PME; hereditary myoclonus-progressive distal muscular atrophy syndrome; Jankovic-Rivera syndrome [-]	A motor neuron disease characterized by severe and..[+] A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. [-]
scalp-ear-nipple syndrome	Sen Syndrome; SENS; Finlay-Marks syndrome; heredit.. [+] SENS; Sen Syndrome; Finlay-Marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples [-]	An ectodermal dysplasia characterized by cutis apl..[+] An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. [-]
scapuloperoneal spinal muscular atrophy	scapuloperoneal neuronopathy; SPSMA; neurogenic sc.. [+] SPSMA; scapuloperoneal neuronopathy; neurogenic scapuloperoneal amyotrophy, New England type [-]	A motor neuron disease characterized by progressiv..[+] A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
spondyloepiphyseal dysplasia Maroteaux type	spondyloepiphyseal dysplasia of Maroteaux; SED, Ma.. [+] spondyloepiphyseal dysplasia of Maroteaux; SED, Maroteaux type; Brachyolmia Type 2; Pseudo-Morquio syndrome type 2 [-]	An osteochondrodysplasia characterized by dysplast..[+] An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
spondylometaphyseal dysplasia Kozlowski type	SMD Kozlowski type; skeletal dysplasia Jequier-Koz.. [+] SMD Kozlowski type; skeletal dysplasia Jequier-Kozlowski type; dysmorphism arthrogryposis skeletal maturation advanced; Jequier Kozlowski skeletal dysplasia; Jequier-Kozlowski syndrome [-]	A spondylometaphyseal dysplasia characterized by v..[+] A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
steatocystoma multiplex	sebocystomatosis; multiple sebaceous cysts	A sebaceous gland disease characterized by the pre..[+] A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. [-]
stiff skin syndrome	SSKS	A skin disease characterized by hard, thick skin, ..[+] A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. [-]
Sturge-Weber syndrome	SWS; Sturge-Weber-Krabbe angiomatosis; Sturge-Webe.. [+] Sturge-Weber-Krabbe angiomatosis; SWS; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Dimitri syndrome; encephalofacial angiomatosis; encephalotrigeminal angiomatosis; meningeal capillary angiomatosis; fourth phacomatosis; leptomeningeal angiomatosis [-]	A vascular disease characterized by intracranial v..[+] A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. [-]
snowflake vitreoretinal degeneration	SVD; vitreoretinal degeneration, snowflake type	An eye degenerative disease characterized by fibri..[+] An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. [-]
Schopf-Schulz-Passarge syndrome	SSPS; keratosis palmoplantaris-cystic eyelids-hypo.. [+] SSPS; keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; eccrine tumors-ectodermal dysplasia; palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome [-]	An ectodermal dysplasia characterized by multiple ..[+] An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. [-]
Saul-Wilson syndrome	SWILS; microcephalic osteodysplastic dysplasia, Sa.. [+] SWILS; microcephalic osteodysplastic dysplasia, Saul-Wilson type [-]	A bone development disease characterized by early ..[+] A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. [-]
Schaaf-Yang syndrome	SHFYNG; MAGEL2-related Prader-Willi-like syndrome; .. [+] SHFYNG; MAGEL2-related Prader-Willi-like syndrome; MAGEL2-related PWLS; PWLS [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. [-]
syndromic microphthalmia 1	syndromic microphthalmia 4; Lenz dysplasia; Lenz t.. [+] syndromic microphthalmia 4; Lenz dysplasia; Lenz type microphthalmia; MCOPS1; Lenz microphthalmia [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. [-]
syndromic microphthalmia 12	MCOPS12; microphthalmia with or without pulmonary .. [+] MCOPS12; microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects [-]	A syndromic microphthalmia characterized by bilate..[+] A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. [-]
syndromic microphthalmia 3	syndromic microphthalmia type 3; SOX2 anophthalmia.. [+] syndromic microphthalmia type 3; SOX2 anophthalmia syndrome; AEG syndrome; anophthalmia clinical with associated anomalies; anophthalmia esophageal genital syndrome; anophthalmia microphthalmia esophageal atresia; anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3; microphthalmia and esophageal atresia syndrome [-]	A syndromic microphthalmia characterized by clinic..[+] A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. [-]
syndromic microphthalmia 14	MCOPS14; MCSKS; microphthalmia and/or coloboma wit.. [+] MCOPS14; MCSKS; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; microphthalmia/coloboma and skeletal dysplasia syndrome; colobomatous microphthalmia-rhizomelic dysplasia syndrome [-]	A syndromic microphthalmia characterized by microp..[+] A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. [-]
syndromic microphthalmia 8	syndromic microphthalmia type 8; MCOPS8; Viljoen-S.. [+] syndromic microphthalmia type 8; MCOPS8; Viljoen-Smart syndrome; microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome; MMEP syndrome [-]	A syndromic microphthalmia characterized by microc..[+] A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. [-]
syndromic microphthalmia 11	MCOPS11	A syndromic microphthalmia characterized by microp..[+] A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. [-]
syndromic microphthalmia 6	syndromic microphthalmia type 6; anophthalmia clin.. [+] syndromic microphthalmia type 6; anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia; Bakrania-Ragge syndrome; MCOPS6; microphthalmia with brain and digit anomalies; microphthalmia and pituitary anomalies [-]	A syndromic microphthalmia characterized by clinic..[+] A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. [-]
syndromic microphthalmia 5	syndromic microphthalmia/anophthalmia due to OTX2 .. [+] syndromic microphthalmia/anophthalmia due to OTX2 mutation; syndromic microphthalmia type 5; MCOPS5 [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. [-]
syndromic microphthalmia 9	spear syndrome; anophthalmia-pulmonary hypoplasia .. [+] spear syndrome; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia/microphthalmia and pulmonary hypoplasia; pulmonary agenesis microphthalmi and diaphragmatic defect; clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations; Matthew-Wood syndrome [-]	A syndromic microphthalmia characterized by bilate..[+] A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. [-]
syndromic microphthalmia 2	syndromic microphthalmia type 2; cataract-micropht.. [+] syndromic microphthalmia type 2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; oculofaciocardiodental syndrome; OFCD syndrome; microphthalmia cataracts radiculomegaly and septal heart defects; ANOP2 [-]	A syndromic microphthalmia characterized by dental..[+] A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. [-]	1 articles	14 matches
syndromic microphthalmia 13	colobomatous microphthalmia with microcephaly, sho.. [+] colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; MCOPS13; X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome; Maine microphthalmos [-]	A syndromic microphthalmia characterized by colobo..[+] A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. [-]
syndromic microphthalmia 10	MCOPS10; microphthalmia-brain atrophy syndrome; MO.. [+] MCOPS10; microphthalmia-brain atrophy syndrome; MOBA [-]	A syndromic microphthalmia characterized by congen..[+] A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. [-]
syndactyly type 8	fusion of metacarpals 4 and 5; metacarpal 4-5 fusi.. [+] fusion of metacarpals 4 and 5; metacarpal 4-5 fusion [-]	A syndactyly characterized by isolated fusion of t..[+] A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. [-]
syndactyly type 1	syndactyly, type 1, with or without craniosynostos.. [+] syndactyly, type 1, with or without craniosynostosis; SDTY1; chromosome 2q35 duplication syndrome [-]	A syndactyly characterized by complete or partial ..[+] A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. [-]
syndactyly type 3	syndactyly, type III; syndactyly of fingers 4 and .. [+] syndactyly, type III; syndactyly of fingers 4 and 5; SDTY3; ringand little finger syndactyly [-]	A syndactyly characterized by complete and bilater..[+] A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. [-]
syndactyly type 4	SDTY4; Haas type syndactyly; polysyndactyly, Haas .. [+] SDTY4; Haas type syndactyly; polysyndactyly, Haas type [-]	A syndactyly characterized by complete bilateral s..[+] A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
syndactyly type 5	SDTY5; syndactyly with associated metacarpal and m.. [+] SDTY5; syndactyly with associated metacarpal and metatarsal fusion [-]	A syndactyly characterized by postaxial syndactyly..[+] A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. [-]
Shukla-Vernon syndrome	SHUVER	A syndrome characterized by global developmental d..[+] A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. [-]
Sabinas brittle hair syndrome	brittle hair-mental deficiency syndrome; trichothi.. [+] brittle hair-mental deficiency syndrome; trichothiodystrophy type B [-]	A nonphotosensitive trichothiodystrophy characteri..[+] A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. [-]
spermatogenic failure	SPGF	A male infertility characterized by disruption of ..[+] A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. [-]
spermatogenic failure 34	SPGF34	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. [-]
spermatogenic failure 41	SPGF41	A spermatogenic failure characterized by oligozoos..[+] A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. [-]
spermatogenic failure 30	SPGF30	A spermatogenic failure characterized by nonobstru..[+] A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. [-]
spermatogenic failure 35	SPGF35	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. [-]
spermatogenic failure 33	SPGF33	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. [-]
spermatogenic failure 28	SPGF28	A spermatogenic failure characterized by nonobstru..[+] A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. [-]
spermatogenic failure 43	SPGF43	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. [-]
spermatogenic failure 40	SPGF40	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. [-]
spermatogenic failure 38	SPGF38	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. [-]
spermatogenic failure 25	SPGF25	A spermatogenic failure characterized by maturatio..[+] A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. [-]
spermatogenic failure 36	SPGF36	A spermatogenic failure characterized by spermatoz..[+] A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. [-]
spermatogenic failure 31	SPGF31	A male failure due to acephalic spermatozoa that i..[+] A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. [-]
spermatogenic failure 42	SPGF42	A spermatogenic failure characterized by multiple ..[+] A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. [-]

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