Rare Disease Library

Congenital elbow dislocation, unilateral

Congenital joint dislocations

Congenital knee dislocation

Congenital patella dislocation

Cryptogenic multifocal ulcerous stenosing enteritis

CMUSE

Dextrocardia

Diazoxide-resistant focal hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form

Disease with focal palmoplantar keratoderma as a major feature

Disease with focal palmoplantar hyperkeratosis as a major feature

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome

Drug-induced localized lipodystrophy

Lipoatrophy caused by injected drug

Endocardial fibroelastosis

Endomyocardial fibroelastosis

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

Erythrokeratoderma ''en cocardes''

Degos genodermatosis "en cocardes"

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Faciocardiorenal syndrome

Eastman-Bixler syndrome

Familial focal epilepsy with variable foci

FFEVF · Familial partial epilepsy with variable foci

Familial hypocalciuric hypercalcemia

FBH · FBHH

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Familial primary localized cutaneous amyloidosis

FPLCA

Focal acral hyperkeratosis

Punctate palmoplantar hyperkeratosis type 3 without elastoidosis · Punctate palmoplantar keratoderma type 3 without elastoidosis

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

Focal facial dermal dysplasia

FFDD

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

Focal myositis

Focal nodular myositis · Inflammatory pseudotumor of skeletal muscle

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

Focal palmoplantar keratoderma with joint keratoses

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Focal, segmental or multifocal dystonia

Gastric adenocarcinoma and proximal polyposis of the stomach

Familial fundic gland polyposis with gastric cancer · GAPPS

Genitopalatocardiac syndrome

Gardner-Silengo-Wachtel syndrome

Gestational choriocarcinoma

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Homocarnosinosis

Homocarnosinase deficiency

Hypocalcemic rickets

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Hypocalcemic vitamin D-resistant rickets

HVDRR · Hereditary vitamin D-resistant rickets

Hypocalcified amelogenesis imperfecta

Amelogenesis imperfecta type 3

Idiopathic giant cell myocarditis

IGCM

Idiopathic localized lipodystrophy