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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

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

ORPHA:633004Ауру
Autosomal dominant

KDM5C-related syndromic X-linked intellectual disability

ORPHA:85279Мальф.
X-linked recessive

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

ORPHA:610569Ауру
Autosomal recessive

KID syndrome

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

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

ORPHA:603684Мальф.
Autosomal recessive

KLHL7-related Bohring-Opitz-like syndrome

ORPHA:603689Мальф.
Autosomal recessive

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

ORPHA:603694Ауру
Autosomal recessive

KLHL9-related early-onset distal myopathy

ORPHA:399081Ауру
Autosomal dominant

KRT1-related diffuse nonepidermolytic keratoderma

ORPHA:530838Ауру
Autosomal dominant

Kabuki syndrome

ORPHA:2322Мальф.
Autosomal dominant, Not applicable

Kagami-Ogata syndrome

ORPHA:254519Мальф.
Autosomal dominant, Not applicable

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

ORPHA:254534Этио. под.
Autosomal dominant, Not applicable

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

ORPHA:254528Этио. под.
Autosomal dominant, Not applicable

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

ORPHA:96334Этио. под.

Kallmann syndrome

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

Kallmann syndrome-heart disease syndrome

ORPHA:2326Мальф.
Autosomal recessive

Kandori fleck retina

ORPHA:99179Мальф.

Kaposi sarcoma

ORPHA:33276Ауру
Not applicable

Kaposiform hemangioendothelioma

ORPHA:2122Ауру
Not applicable

Kaposiform lymphangiomatosis

ORPHA:464329Ауру
Not applicable

Kapur-Toriello syndrome

ORPHA:2328Мальф.
Autosomal recessive

Karsch-Neugebauer syndrome

ORPHA:2329Мальф.
Autosomal dominant

Karyomegalic interstitial nephritis

ORPHA:401996Ауру
Autosomal recessive

Kasabach-Merritt phenomenon

ORPHA:2330Жағдай
Not applicable