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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

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

ORPHA:633004Disease
Autosomal dominant

KDM5C-related syndromic X-linked intellectual disability

ORPHA:85279Malform.
X-linked recessive

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

ORPHA:610569Disease
Autosomal recessive

KID syndrome

ORPHA:477Disease
Autosomal dominant, Autosomal recessive, Not applicable

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

ORPHA:603684Malform.
Autosomal recessive

KLHL7-related Bohring-Opitz-like syndrome

ORPHA:603689Malform.
Autosomal recessive

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

ORPHA:603694Disease
Autosomal recessive

KLHL9-related early-onset distal myopathy

ORPHA:399081Disease
Autosomal dominant

KRT1-related diffuse nonepidermolytic keratoderma

ORPHA:530838Disease
Autosomal dominant

Kabuki syndrome

ORPHA:2322Malform.
Autosomal dominant, Not applicable

Kagami-Ogata syndrome

ORPHA:254519Malform.
Autosomal dominant, Not applicable

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

ORPHA:254534Etio. sub.
Autosomal dominant, Not applicable

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

ORPHA:254528Etio. sub.
Autosomal dominant, Not applicable

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

ORPHA:96334Etio. sub.

Kallmann syndrome

ORPHA:478Clin. sub.
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive

Kallmann syndrome-heart disease syndrome

ORPHA:2326Malform.
Autosomal recessive

Kandori fleck retina

ORPHA:99179Malform.

Kaposi sarcoma

ORPHA:33276Disease
Not applicable

Kaposiform hemangioendothelioma

ORPHA:2122Disease
Not applicable

Kaposiform lymphangiomatosis

ORPHA:464329Disease
Not applicable

Kapur-Toriello syndrome

ORPHA:2328Malform.
Autosomal recessive

Karsch-Neugebauer syndrome

ORPHA:2329Malform.
Autosomal dominant

Karyomegalic interstitial nephritis

ORPHA:401996Disease
Autosomal recessive

Kasabach-Merritt phenomenon

ORPHA:2330Situation
Not applicable