Rare Disease Library

Isolated ulnar hemimelia

Isolated ulnar deficiency of forearm · Isolated ulnar longitudinal meromelia

Isolated unilateral hemispheric cerebellar hypoplasia

Isosporiasis

Cystoisosporiasis

Isotretinoin syndrome

Isotretinoin embryopathy · Retinoic acid embryopathy

Isotretinoin-like syndrome

Kawashima syndrome · Microtia-aortic arch syndrome

Isovaleric acidemia

Isovaleric acid CoA dehydrogenase deficiency

ISPD-related limb-girdle muscular dystrophy R20

LGMD2U · Autosomal recessive limb-girdle muscular dystrophy type 2U

ITM2B amyloidosis

ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Martsolf-like syndrome

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Jackson-Weiss syndrome

Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

Jansen-de Vries syndrome

JDVS · Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome

Japanese encephalitis

Jawad syndrome

Jejunal neuroendocrine tumor

Jejunal neuroendocrine neoplasm

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

Jessner lymphocytic infiltration of the skin

Jessner-Kanof lymphocytic infiltration of the skin

Jeune syndrome

Asphyxiating thoracic dystrophy of the newborn · JATD

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Johanson-Blizzard syndrome

JBS

Johnson neuroectodermal syndrome

Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome

Joubert syndrome and related disorders

JSRD

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

JBTS with JATD · Joubert syndrome with JATD

Joubert syndrome with ocular defect

JS-O · Joubert syndrome with retinopathy

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Joubert syndrome with renal defect

JS-R

Juberg-Hayward syndrome

Cleft lip/palate-abnormal thumbs-microcephaly syndrome · Orocraniodigital syndrome

Juberg-Marsidi syndrome

Junctional epidermolysis bullosa

Epidermolysis bullosa atrophicans · JEB

Junctional epidermolysis bullosa inversa

JEB inversa · JEB-I

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

Jung syndrome

Juvenile absence epilepsy

JAE

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

Juvenile cataract-microcornea-renal glucosuria syndrome

Juvenile cataract-microcornea-renal glycosuria syndrome

Juvenile CLN1 disease

Juvenile neuronal ceroid lipofuscinosis type 1

Juvenile CLN10 disease

Juvenile neuronal ceroid lipofuscinosis type 10

Juvenile CLN2 disease

Juvenile neuronal ceroid lipofuscinosis type 2

Juvenile CLN3 disease

Juvenile neuronal ceroid lipofuscinosis type 3

Juvenile CLN5 disease

Juvenile neuronal ceroid lipofuscinosis type 5

Juvenile CLN6 disease

Juvenile neuronal ceroid lipofuscinosis type 6

Juvenile dermatomyositis

Juvenile DM

Juvenile glaucoma

Juvenile Huntington disease

JHD · Juvenile Huntington chorea

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome