MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome

ORPHA:633004Kr.
Autosomal dominant

KDM5C-related syndromic X-linked intellectual disability

ORPHA:85279Malf.
X-linked recessive

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

ORPHA:610569Kr.
Autosomal recessive

KID syndrome

ORPHA:477Kr.
Autosomal dominant, Autosomal recessive, Not applicable

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

ORPHA:603684Malf.
Autosomal recessive

KLHL7-related Bohring-Opitz-like syndrome

ORPHA:603689Malf.
Autosomal recessive

KLHL7-related Crisponi/cold-induced sweating-like syndrome

ORPHA:603694Kr.
Autosomal recessive

KLHL9-related early-onset distal myopathy

ORPHA:399081Kr.
Autosomal dominant

KRT1-related diffuse nonepidermolytic keratoderma

ORPHA:530838Kr.
Autosomal dominant

Kabuki syndrome

ORPHA:2322Malf.
Autosomal dominant, Not applicable

Kagami-Ogata syndrome

ORPHA:254519Malf.
Autosomal dominant, Not applicable

Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation

ORPHA:254534Ätl. subt.
Autosomal dominant, Not applicable

Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

ORPHA:254528Ätl. subt.
Autosomal dominant, Not applicable

Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

ORPHA:96334Ätl. subt.

Kallmann syndrome

ORPHA:478Kl. subt.
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive

Kallmann syndrome-heart disease syndrome

ORPHA:2326Malf.
Autosomal recessive

Kandori fleck retina

ORPHA:99179Malf.

Kaposi sarcoma

ORPHA:33276Kr.
Not applicable

Kaposiform hemangioendothelioma

ORPHA:2122Kr.
Not applicable

Kaposiform lymphangiomatosis

ORPHA:464329Kr.
Not applicable

Kapur-Toriello syndrome

ORPHA:2328Malf.
Autosomal recessive

Karsch-Neugebauer syndrome

ORPHA:2329Malf.
Autosomal dominant

Karyomegalic interstitial nephritis

ORPHA:401996Kr.
Autosomal recessive

Kasabach-Merritt phenomenon

ORPHA:2330spez. Sit.
Not applicable