Rare Disease Library

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Gardner syndrome

Gastric adenocarcinoma and proximal polyposis of the stomach

Familial fundic gland polyposis with gastric cancer · GAPPS

Gastric linitis plastica

Borrmann gastric cancer type 4 · Linitis plastica of the stomach

Gastrocutaneous syndrome

Gastroduodenal malformation

Malformation of the stomach and the duodenum

Gastroenteric neuroendocrine neoplasm

Gastroenteropancreatic neuroendocrine neoplasm

GEP-NEN

Gastrointestinal stromal tumor

Gastrointestinal stromal sarcoma · Gastrointestinal stromal tumor

Gastrointestinal tract arteriovenous malformation

GI arteriovenous malformation · Angiodysplasia of the GI tract

Gastroschisis

Laparoschisis

GATA2 deficiency spectrum

GATA binding protein 2 deficiency spectrum

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Gaucher disease type 1

Non-cerebral juvenile Gaucher disease

Gaucher disease type 2

Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

Gaucher disease type 3

Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

GCGR-related hyperglucagonemia

Mahvash disease

Gelastic seizures with hypothalamic hamartoma

GS-HH · Hypothalamic hamartoma with gelastic seizures

Gelatinous drop-like corneal dystrophy

GDCD · Primary familial amyloidosis of the cornea

Geleophysic dysplasia

Geleophysic dwarfism

Gemignani syndrome

Spinocerebellar ataxia-amyotrophy-hearing loss syndrome · Spinocerebellar ataxia-amyotrophy-deafness syndrome

Gemistocytic astrocytoma

Generalized arterial calcification of infancy

Idiopathic infantile arterial calcification · Idiopathic obliterative arteriopathy

Generalized basaloid follicular hamartoma syndrome

Generalized bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Generalized epilepsy-paroxysmal dyskinesia syndrome

GEPD

Generalized eruptive histiocytosis

Generalized eruptive histiocytoma

Generalized eruptive keratoacanthoma

GEKA · Generalized eruptive keratoacanthomas of Grzybowski

Generalized essential telangiectasia

GET

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

Generalized glucocorticoid resistance syndrome

Generalized isolated dystonia

Generalized juvenile polyposis/juvenile polyposis coli

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Generalized pustular psoriasis

GPP

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

Genetic 46,XY difference of sex development

Genetic 46,XY DSD · Genetic 46,XY disorder of sex development

Genetic 46,XY difference of sex development of endocrine origin

Genetic 46,XY DSD of endocrine origin · Genetic 46,XY disorder of sex development of endocrine origin

Genetic acrokeratoderma

Genetic alopecia

Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Genetic autoinflammatory syndrome with skin involvement

Genetic biliary tract disease

Genetic bone tumor

Genetic branchial arch or oral-acral syndrome