Rare Disease Library

Disease with diffuse palmoplantar keratoderma as a major feature

Disease with diffuse palmoplantar hyperkeratosis as a major feature

Disease with focal palmoplantar keratoderma as a major feature

Disease with focal palmoplantar hyperkeratosis as a major feature

Disease with punctate palmoplantar keratoderma as a major feature

Disease with punctate palmoplantar hyperkeratosis as a major feature

Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Double outlet right ventricle with non-committed subpulmonary ventricular septal defect

DORV with non-committed subpulmonary VSD

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis

DORV with subaortic or doubly committed VSD with pulmonary stenosis · DORV, Fallot type

Double outlet right ventricle with subpulmonary ventricular septal defect

DORV with subpulmonary VSD · DORV-TGA

Drug- or toxin-induced pulmonary arterial hypertension

Drug- or toxin-induced PAH · PAH

Endophthalmitis

Epidermolytic palmoplantar keratoderma

Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type

Erythema palmare hereditarium

Lane disease · Red palms disease

Ethylmalonic encephalopathy

Extralobar congenital pulmonary sequestration

Congenital extrapulmonary sequestration · Extralobar congenital bronchopulmonary sequestration

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Fatal infantile encephalopathy-pulmonary hypertension syndrome

Fatal infantile lactic acidosis with methylmalonic aciduria

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

Focal palmoplantar keratoderma with joint keratoses

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ALX1-related frontonasal dysplasia · Frontonasal dysplasia type 3

Fulminant viral hepatitis

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Genetic neuro-ophthalmological disease

Gitelman syndrome

Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation

Gitelman-like kidney tubulopathy due to mtDNA mutation

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

Hantavirus pulmonary syndrome

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

POIKTMP syndrome

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

HIBM3 · Hereditary inclusion body myopathy type 3

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type · PPK, Gamborg-Nielsen type

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Heritable pulmonary arterial hypertension

Familial pulmonary arterial hypertension · FPAH

High altitude pulmonary edema

HAPE

Holmes-Adie syndrome

Tonic pupil-tendon areflexia syndrome · Adie syndrome

Holmes-Gang syndrome

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Shaheen syndrome

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Hypopituitarism-microphthalmia syndrome

Kaplowitz-Bodurtha syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Idiopathic pulmonary arterial hypertension

IPAH · PAH

Idiopathic pulmonary artery dilatation

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis · IPF

Idiopathic pulmonary hemosiderosis