MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

KLHL9-related early-onset distal myopathy

ORPHA:399081Disease
Autosomal dominant

KRT1-related diffuse nonepidermolytic keratoderma

ORPHA:530838Disease
Autosomal dominant

Kaposi sarcoma

ORPHA:33276Disease
Not applicable

Kaposiform hemangioendothelioma

ORPHA:2122Disease
Not applicable

Kaposiform lymphangiomatosis

ORPHA:464329Disease
Not applicable

Karyomegalic interstitial nephritis

ORPHA:401996Disease
Autosomal recessive

Kawasaki disease

ORPHA:2331Disease
Multigenic/multifactorial

Kearns-Sayre syndrome

ORPHA:480Disease
Autosomal recessive, Mitochondrial inheritance, Not applicable

Kennedy disease

ORPHA:481Disease
X-linked recessive

Keratitis fugax hereditaria

ORPHA:647815Disease
Autosomal dominant

Keratocystic odontogenic tumor

ORPHA:447777Disease
Not applicable

Keratoderma hereditarium mutilans

ORPHA:494Disease
Autosomal dominant

Keratoderma hereditarium mutilans with ichthyosis

ORPHA:79395Disease
Autosomal dominant

Keratolytic winter erythema

ORPHA:50943Disease
Autosomal dominant

Keratosis follicularis spinulosa decalvans

ORPHA:2340Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

ORPHA:281201Disease
Autosomal recessive

Keratosis palmaris et plantaris-clinodactyly syndrome

ORPHA:86919Disease
Autosomal dominant

Kerion celsi

ORPHA:499Disease
Not applicable

Ketamine-induced biliary dilatation

ORPHA:293807Disease
Not applicable

Ketoacidosis due to monocarboxylate transporter-1 deficiency

ORPHA:438075Disease
Autosomal dominant, Autosomal recessive

Kidney tubulopathy-dilated cardiomyopathy syndrome

ORPHA:73224Disease
Autosomal dominant

Kienbock disease

ORPHA:97332Disease

Kikuchi-Fujimoto disease

ORPHA:50918Disease

Kimura disease

ORPHA:482Disease
Unknown