Rare Disease Library

Neuroendocrine cell hyperplasia of infancy

NEHI · NCHI

Branchial arch or oral-acral syndrome

Branchio-oculo-facial syndrome

BOFS

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Branchiootic syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Bronchial malformation

Bronchial neuroendocrine tumor

Bronchial NET

Bronchiectasis-oligospermia syndrome

Bronchiolitis obliterans

Constrictive bronchiolitis · Obliterative bronchiolitis

Diffuse panbronchiolitis

First branchial cleft anomaly

First branchial cleft cyst · First branchial cleft fistula

Fourth branchial cleft anomaly

Fourth branchial cleft cyst · Fourth branchial cleft fistula

Genetic branchial arch or oral-acral syndrome

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

GBE deficiency, adult neuromuscular form · GSD due to glycogen branching enzyme deficiency, adult neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

GBE deficiency, childhood combined hepatic and myopathic form · GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

GBE deficiency, childhood neuromuscular form · GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease type IV, congenital neuromuscular form · Glycogenosis type IV, congenital neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

Glycogen storage disease type IV, fatal perinatal neuromuscular form · Glycogenosis type IV, fatal perinatal neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease type IV, non progressive hepatic form · Glycogenosis type IV, non progressive hepatic form

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

GBE deficiency, progressive hepatic form · GSD due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Idiopathic bronchiectasis

Isolated left bronchial isomerism

Left bronchial isomerism without heterotaxy

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

Non-transplant-related bronchiolitis obliterans

Pierre Robin syndrome associated with branchial archs anomalies

Pierre Robin sequence associated with branchial archs anomalies

Plastic bronchitis

Croupous bronchitis · Fibrinous bronchitis

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

RAC2-related CID · Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2

Respiratory bronchiolitis-interstitial lung disease syndrome

RB-ILD

Second branchial cleft anomaly

Second branchial cleft cyst · Second branchial cleft fistula

Third branchial cleft anomaly

Third branchial cleft cyst · Third branchial cleft fistula

Transplant-related bronchiolitis obliterans

Bronchiolitis obliterans syndrome · BOS