Rare Disease Library

Severe phosphoribosylpyrophosphate synthetase superactivity

Severe PRPP synthetase superactivity · Severe PRPS1 superactivity

Severe primary trimethylaminuria

TMAU

Severe X-linked intellectual disability, Gustavson type

Gustavson syndrome

Severe X-linked mitochondrial encephalomyopathy

Mitochondrial encephalomyopathy due to COXPD6 · Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

Sex chromosome difference of sex development

Sex chromosome DSD · Sex chromosome disorder of sex development

Sex cord-stromal tumor of testis

Testicular sex cord-stromal tumor

Sex-chromosome anomaly syndrome

Allosome anomaly

Sex-chromosome number anomaly syndrome

Allosome number anomaly

Sex-chromosome structural anomaly syndrome

Allosome structural anomaly

Sézary syndrome

Sézary lymphoma

Shashi-Pena syndrome

Sheehan syndrome

Sheldon-Hall syndrome

SSH · DA2B

Shiga toxin-associated hemolytic uremic syndrome

Typical HUS · Typical hemolytic uremic syndrome

Shigellosis

Shone complex

Short bowel syndrome

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Short fifth metacarpals-insulin resistance syndrome

Short rib-polydactyly syndrome

Short rib-polydactyly syndrome type 5

Short rib-polydactyly syndrome, Beemer-Langer type

Short rib-polydactyly syndrome type 4

Short rib-polydactyly syndrome, Majewski type

Short rib-polydactyly syndrome type 2

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1

Short rib-polydactyly syndrome, Verma-Naumoff type

Short rib-polydactyly syndrome type 3

Short stature due to GHSR deficiency

Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome

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

Short stature due to partial GHR deficiency

Short stature due to partial growth hormone receptor deficiency

Short stature due to primary acid-labile subunit deficiency

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

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

SAMS syndrome

Short stature-brachydactyly-obesity-global developmental delay syndrome

SBIDDS

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Haspeslagh-Fryns-Muelenaere syndrome

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Thong-Douglas-Ferrante syndrome · Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome

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

Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome

Richieri Costa-Guion Almeida syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Short stature-valvular heart disease-characteristic facies syndrome

Short stature-webbed neck-heart disease syndrome

Al Gazali-Aziz-Salem syndrome

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

Short stature, Brussels type

Mievis-Verellen-Dumoulin syndrome

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

Short tarsus-absence of lower eyelashes syndrome

Lopes-Gorlin syndrome

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome