Rare Disease Index
9,491 diseasessevere early-onset pulmonary alveolar proteinosis due to MARS deficiency
human disease
severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
human disease
severe hemophilia A
severe hemophilia b
Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
human disease
severe intellectual disability and progressive spastic paraplegia
human disease
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
human disease
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
human disease
severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
human disease
severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome
human disease
severe lateral tibial bowing with short stature
human disease
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
human disease
MeSH: C564508
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
human disease
severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
human disease
severe neonatal-onset encephalopathy with microcephaly
human disease
MeSH: C566878
severe neurodegenerative syndrome with lipodystrophy
human disease
severe phosphoribosylpyrophosphate synthetase superactivity
severe primary trimethylaminuria
human disease
Severe X-linked intellectual disability, Gustavson type
medical condition
MeSH: C536759
sex chromosome aberration
abnormal number or structure of the sex chromosomes
MeSH: D012729
sex chromosome disorder
human disease
MeSH: D025064
sex chromosome disorder of sex development
congenital condition of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy, trisomy and mosaicism
MeSH: D058533
Sezary's disease
type of cutaneous lymphoma
MeSH: D012751
Shapiro syndrome
Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions
MeSH: C537594
Sheehan's syndrome
human disease
Sheldon-Hall syndrome
human disease
ICD: Q68.8MeSH: C538400
shigellosis
human disease
Shone's syndrome
human disease
short bowel syndrome
human disease
ICD: K91.8MeSH: D012778