Rare Disease Index
9,491 diseasesSensenbrenner syndrome
Human disease
ICD: Q87.5
sensorineural hearing loss-early graying-essential tremor syndrome
Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor
sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia
MeSH: C537583
Senter syndrome
medical condition
sepiapterin reductase deficiency
human disease
MeSH: C562657
septo-optic dysplasia
medical condition
MeSH: D025962
Septopreoptic holoprosencephaly
Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion
serine deficiency
amino acid metabolic disorder that has material basis in defects in the biosynthesis of the amino acid L-serine
Serkal syndrome
genetic disorder
serotonin syndrome
symptoms caused by an excess of serotonin in the central nervous system
MeSH: D020230
serous or mucinous cystadenoma of childhood
serpentine fibula-polycystic kidney syndrome
medical condition
MeSH: C537586
serpiginous choroiditis
medical condition
Setleis syndrome
medical condition
severe acute respiratory syndrome
viral respiratory disease
ICD: U04.9MeSH: D045169
severe Canavan disease
Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia
severe combined immunodeficiency
combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems
ICD: D81.0MeSH: D016511
severe combined immunodeficiency due to CARD11 deficiency
human disease
severe combined immunodeficiency due to CTPS1 deficiency
human disease
severe combined immunodeficiency due to IKK2 deficiency
human disease
severe combined immunodeficiency due to LCK deficiency
human disease
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has material basis in mutation in the RAG1 and RAG2 genes on chromosome 11p12
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
human disease
severe congenital hypochromic anemia with ringed sideroblasts
severe congenital nemaline myopathy
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates
severe congenital neutropenia
neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections
MeSH: C564539
severe dermatitis-multiple allergies-metabolic wasting syndrome
human disease
severe early-onset axonal neuropathy due to MFN2 deficiency
human disease
severe early-onset axonal neuropathy due to NEFL deficiency
human disease
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
human disease