Rare Disease Library

Juvenile idiopathic arthritis

Juvenile chronic arthritis · Juvenile rheumatoid arthritis

Juvenile idiopathic inflammatory myopathy

JIIM

Juvenile myasthenia gravis

Childhood myasthenia gravis · Generalized myasthenia gravis

Juvenile myelomonocytic leukemia

Juvenile chronic myelomonocytic leukemia · JMML

Juvenile myoclonic epilepsy

JME · Juvenile myoclonus epilepsy

Juvenile nasopharyngeal angiofibroma

JNA

Juvenile nephronophthisis

Juvenile nephropathic cystinosis

Intermediate cystinosis · Juvenile cystinosis

Juvenile or adult CACH syndrome

Juvenile overlap myositis

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

Juvenile polymyositis

Juvenile PM

Juvenile polyposis of infancy

Infantile juvenile polyposis syndrome

Juvenile polyposis syndrome

JIP · JPS

Juvenile primary lateral sclerosis

JPLS · Juvenile PLS

Juvenile sialidosis type 2

Juvenile temporal arteritis

Non-giant cell granulomatous temporal arteritis with eosinophilia · JTA

Juvenile xanthogranuloma

JXG

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome · Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome

Juvenile-onset Steinert myotonic dystrophy

Juvenile-onset Steinert disease · Juvenile-onset myotonic dystrophy type 1

Juxtaposition of the atrial appendages

Juxtaposition of the atrial auricles

Kabuki syndrome

Kabuki make-up syndrome · Niikawa-Kuroki syndrome

Kagami-Ogata syndrome

KOS

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

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

Maternal del(14)(q32.2) · Maternal monosomy 14q32.2

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

UPD(14)pat

Kahrizi syndrome

Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis syndrome

Kallmann syndrome

Congenital hypogonadotropic hypogonadism with anosmia · Olfacto-genital pathological sequence

Kallmann syndrome-heart disease syndrome

Kandori fleck retina

Kaposi sarcoma

Kaposiform hemangioendothelioma

Kaposiform lymphangiomatosis

Kapur-Toriello syndrome

Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome

Karsch-Neugebauer syndrome

Split hand/split foot-nystagmus syndrome

Karyomegalic interstitial nephritis

KIN · Systemic karyomegaly

Kasabach-Merritt phenomenon

Hemangioma-thrombocytopenia syndrome

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

Kawasaki disease

Mucocutaneous lymph node syndrome

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

KCNQ2-related developmental and epileptic encephalopathy

KCNQ2-DEE

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

Diets-Jongmans Syndrome

KDM5C-related syndromic X-linked intellectual disability

Kearns-Sayre syndrome

Keipert syndrome

Nasodigitoacoustic syndrome

Kenny-Caffey syndrome

Kenny syndrome

Keppen-Lubinsky syndrome

Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome