Rare Disease Index
9,491 diseasesSOST-related sclerosing bone dysplasia
hyperostosis that has material basis in a mutation in the SOST gene which results in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located in skull
Sotos syndrome
autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life
MeSH: D058495
Southeast Asian ovalocytosis
medical condition
ICD: D58.1MeSH: C566230
sparse hair-short stature-skin anomalies syndrome
Spasmus nutans
Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis
spastic ataxia
Human disease
ICD: G11.4MeSH: C564815
spastic ataxia 1
human disease
spastic ataxia 2
human disease
spastic ataxia 3
human disease
MeSH: C566956
spastic ataxia 4
human disease
spastic ataxia 5
human disease
spastic ataxia 7
Human disease
MeSH: C566247
Spastic ataxia-corneal dystrophy syndrome
Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia
MeSH: C536989
spastic diplegia and mental retardation
human disease
MeSH: C537481
spastic paraparesis-deafness syndrome
Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits
MeSH: C536692
spastic paraplegia 78, autosomal recessive; SPG78
human disease
spastic paraplegia 81, autosomal recessive
human disease
spastic paraplegia-epilepsy-intellectual disability syndrome
human disease
spastic paraplegia-facial-cutaneous lesions syndrome
MeSH: C537797
spastic paraplegia-glaucoma-intellectual disability syndrome
MeSH: C564809
spastic paraplegia-nephritis-deafness syndrome
This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy
MeSH: C537937
spastic paraplegia-neuropathy-poikiloderma syndrome
MeSH: C536870
spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
human disease
spastic paraplegia-Paget disease of bone syndrome
spastic paraplegia-precocious puberty syndrome
MeSH: C536874
spastic paraplegia-severe developmental delay-epilepsy syndrome
human disease
spastic quadriplegia
type of spastic cerebral palsy characterized by increased muscle tone of all four extremities
ICD: G80.0
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.
MeSH: C564808
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
human disease
spasticity-ataxia-gait anomalies syndrome
human disease