Disease Index
9,486 diseasesspondyloepiphyseal dysplasia, Reardon type
MeSH: C563472
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
human disease
spondyloepiphyseal dysplasia, Stanescu type
human disease
spondylometaphyseal dysplasia
Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life
spondylometaphyseal dysplasia with corneal dystrophy
human disease
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
human disease
MeSH: C535791
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
medical condition
spondylometaphyseal dysplasia, 'corner fracture' type
MeSH: C535793
spondylometaphyseal dysplasia, A4 type
human disease
MeSH: C563803
spondylometaphyseal dysplasia, Czarny-Ratajczak type
human disease
spondylometaphyseal dysplasia, golden type
human disease
MeSH: C563124
spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly
MeSH: C535797
spondylometaphyseal dysplasia, Schmidt type
MeSH: C535794
spondylometaphyseal dysplasia, Sedaghatian type
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly
MeSH: C535798
Spondyloperipheral dysplasia
medical condition
MeSH: C535799
spontaneous intracranial hypotension
human disease
sporadic adult-onset ataxia of unknown etiology
sporadic Creutzfeldt-Jakob disease
sporadic hyperekplexia
human disease
sporadic idiopathic steroid-resistant nephrotic syndrome
Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema.
sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy
human disease
sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
human disease
sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
human disease
sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
human disease
sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
human disease
sporadic infantile bilateral striatal necrosis
Sporadic late onset nemaline myopathy
Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset
sporadic pheochromocytoma
human disease
sporadic pheochromocytoma/secreting paraganglioma
sporadic secreting paraganglioma
human disease