Rare Disease Library

Bosley-Salih-Alorainy syndrome

Transplant-related bronchiolitis obliterans

Bronchiolitis obliterans syndrome · BOS

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

Optic atrophy-intellectual disability syndrome

BBSOAS · Bosch-Boonstra-Schaaf optic atrophy syndrome

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of adult

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

Cerebral sinovenous thrombosis

CSVT

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Craniosynostosis, Boston type

Craniosynostosis, Warman type · Warman-Mulliken-Hayward syndrome

Generalized bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Isolated mesenteric vein thrombosis

Isolated splenic vein thrombosis

Mild phosphoribosylpyrophosphate synthetase superactivity

Mild PRPP synthetase superactivity · Mild PRPS1 superactivity

Neonatal renal venous thrombosis

Neonatal RVT · NRVT

Non-malignant and non-cirrhotic portal vein thrombosis

Non-cirrhotic and non-tumoral portal vein thrombosis · Non-malignant non-cirrhotic PVT

OBSOLETE: Lumbosacral spina bifida aperta

OBSOLETE: Lumbosacral spina bifida cystica

OBSOLETE: Thoracolumbosacral spina bifida aperta

OBSOLETE: Thoracolumbosacral spina bifida cystica

OBSOLETE: Van den Bosch syndrome

Phosphoribosylpyrophosphate synthetase superactivity

PRPP synthetase superactivity · PRPS1 superactivity

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Faulk-Epstein-Jones syndrome

Proboscis lateralis

Congenital tubular nose

Ribose-5-P isomerase deficiency

Severe phosphoribosylpyrophosphate synthetase superactivity

Severe PRPP synthetase superactivity · Severe PRPS1 superactivity