MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

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

ORPHA:633004Заболевание
Autosomal dominant

KDM5C-related syndromic X-linked intellectual disability

ORPHA:85279Мальформация
X-linked recessive

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

ORPHA:610569Заболевание
Autosomal recessive

KID syndrome

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

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

ORPHA:603684Мальформация
Autosomal recessive

KLHL7-related Bohring-Opitz-like syndrome

ORPHA:603689Мальформация
Autosomal recessive

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

ORPHA:603694Заболевание
Autosomal recessive

KLHL9-related early-onset distal myopathy

ORPHA:399081Заболевание
Autosomal dominant

KRT1-related diffuse nonepidermolytic keratoderma

ORPHA:530838Заболевание
Autosomal dominant

Kabuki syndrome

ORPHA:2322Мальформация
Autosomal dominant, Not applicable

Kagami-Ogata syndrome

ORPHA:254519Мальформация
Autosomal dominant, Not applicable

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

ORPHA:254534Этиол. подтип
Autosomal dominant, Not applicable

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

ORPHA:254528Этиол. подтип
Autosomal dominant, Not applicable

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

ORPHA:96334Этиол. подтип

Kallmann syndrome

ORPHA:478Клин. подтип
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive

Kallmann syndrome-heart disease syndrome

ORPHA:2326Мальформация
Autosomal recessive

Kandori fleck retina

ORPHA:99179Мальформация

Kaposi sarcoma

ORPHA:33276Заболевание
Not applicable

Kaposiform hemangioendothelioma

ORPHA:2122Заболевание
Not applicable

Kaposiform lymphangiomatosis

ORPHA:464329Заболевание
Not applicable

Kapur-Toriello syndrome

ORPHA:2328Мальформация
Autosomal recessive

Karsch-Neugebauer syndrome

ORPHA:2329Мальформация
Autosomal dominant

Karyomegalic interstitial nephritis

ORPHA:401996Заболевание
Autosomal recessive

Kasabach-Merritt phenomenon

ORPHA:2330Особая клин. ситуация
Not applicable