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Rare Disease Index

9,491 diseases

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

ICD: Q77.2MeSH: D012779

short rib dysplasia

short stature due to GHSR deficiency

short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

short stature due to partial GHR deficiency

short stature-advanced bone age-early-onset osteoarthritis syndrome

short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

short stature-brachydactyly-obesity-global developmental delay syndrome

short stature-craniofacial anomalies-genital hypoplasia syndrome

short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections)

short stature-delayed bone age due to thyroid hormone metabolism deficiency

short stature-heart defect-craniofacial anomalies syndrome

short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

short stature-optic atrophy-Pelger-HuC+t anomaly syndrome

short stature-valvular heart disease-characteristic facies syndrome

short stature-webbed neck-heart disease syndrome

short stature, Brussels type

This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism

medical condition

short tarsus-absence of lower eyelashes syndrome

Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes

short ulna-dysmorphism-hypotonia-intellectual disability syndrome

short-chain acyl-coenzyme A dehydrogenase deficiency

lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids

Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing

a rare headache disorder of trigeminal autonomic cephalalgia (TAC) category

short-limb skeletal dysplasia with severe combined immunodeficiency

medical condition

short-rib thoracic dysplasia 9 with or without polydactyly

asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13

shoulder and girdle defects-familial intellectual disability syndrome

shoulder and thorax deformity-congenital heart disease syndrome

SHOX-related short stature

Shprintzen-Goldberg syndrome

medical condition

Page 275 of 317 (9,491 total)

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