Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
Autosomal dominant
Infancy, Neonatal
KDM5C-related syndromic X-linked intellectual disability
X-linked recessive
Childhood
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
Autosomal recessive
Antenatal, Neonatal
KID syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Neonatal
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
Autosomal recessive
Neonatal
KLHL7-related Bohring-Opitz-like syndrome
Autosomal recessive
Antenatal, Neonatal
KLHL7-related Crisponi/cold-induced sweating-like syndrome
Autosomal recessive
KLHL9-related early-onset distal myopathy
Autosomal dominant
Adolescent, Childhood
KRT1-related diffuse nonepidermolytic keratoderma
Autosomal dominant
Childhood, Infancy
Kabuki syndrome
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Kagami-Ogata syndrome
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Autosomal dominant, Not applicable
Infancy, Neonatal
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Autosomal dominant, Not applicable
Infancy, Neonatal
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Infancy, Neonatal
Kallmann syndrome
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive
Adolescent, Childhood
Kallmann syndrome-heart disease syndrome
Autosomal recessive
Infancy, Neonatal
Kandori fleck retina
Adolescent, Adult, Childhood
Kaposi sarcoma
Not applicable
Adult
Kaposiform hemangioendothelioma
Not applicable
All ages
Kaposiform lymphangiomatosis
Not applicable
Childhood
Kapur-Toriello syndrome
Autosomal recessive
Infancy, Neonatal
Karsch-Neugebauer syndrome
Autosomal dominant
Infancy, Neonatal
Karyomegalic interstitial nephritis
Autosomal recessive
Adult
Kasabach-Merritt phenomenon
Not applicable
Infancy, Neonatal