Disease Index
9,486 diseasessevere 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
short fifth metacarpals-insulin resistance syndrome
short QT syndrome
heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart
ICD: R94.3MeSH: C580439
short rib – polydactyly syndrome
Human disease
ICD: Q77.2MeSH: D012779
short rib dysplasia
human disease