Rare Disease Library

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

King-Denborough syndrome

Koussef-Nichols syndrome

Karyomegalic interstitial nephritis

KIN · Systemic karyomegaly

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Acquired kinky hair syndrome

Acral peeling skin syndrome

Acral PSS · Peeling skin syndrome 2

Adult-onset dystonia-parkinsonism

Dystonia-parkinsonism, Paisan-Ruiz type · PARK14

Agammaglobulinemia-skin involvement-failure to thrive syndrome

Hypogammaglobulinemia-skin involvement-failure to thrive syndrome · Syndromic agammaglobulinemia due to ZIP7 deficiency

Aggressive B-cell non-Hodgkin lymphoma

Aggressive B-cell NHL

Atkin-Flaitz syndrome

X-linked intellectual disability, Atkin type

ATP13A2-related parkinsonism

Atypical juvenile parkinsonism

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autoimmune bullous skin disease

Autoimmune disease with skin involvement

Autoinflammatory syndrome with skin involvement

B-cell non-Hodgkin lymphoma

B-cell NHL

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

CAR T cell therapy-associated cytokine release syndrome

CAR T cell therapy-associated CRS · Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome

Caribbean parkinsonism

Atypical parkinsonism in the Caribbean

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Classic Hodgkin lymphoma

Classic Hodgkin disease

Classic Hodgkin lymphoma, lymphocyte-depleted type

Classic Hodgkin lymphoma, lymphocyte-rich type

Classic Hodgkin lymphoma, mixed cellularity type

Classic Hodgkin lymphoma, nodular sclerosis type

Classic pantothenate kinase-associated neurodegeneration

NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

Congenital glucokinase-related hyperinsulinism

Glucokinase-related hyperinsulinemic hypoglycemia

Congenital high-molecular-weight kininogen deficiency

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital muscular dystrophy, Davignon-Chauveau type

Cyanide-induced parkinsonism-dystonia

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Dysmorphism-cleft palate-loose skin syndrome

Dystonia-parkinsonism-hypermanganesemia syndrome

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Familial dyskinesia and facial myokymia

FDFM

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

Fetal akinesia-cerebral and retinal hemorrhage syndrome

Lethal congenital contracture syndrome type 5 · LCCS5

Galactokinase deficiency

GALK deficiency · GALK-D

Generalized epilepsy-paroxysmal dyskinesia syndrome

GEPD

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin