MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome

ORPHA:641353Заболевание

Infantile neurovisceral acid sphingomyelinase deficiency

ORPHA:77292Заболевание
Autosomal recessive

Infantile onset panniculitis with uveitis and systemic granulomatosis

ORPHA:251304Заболевание
Not applicable

Infantile osteopetrosis with neuroaxonal dysplasia

ORPHA:85179Мальформация
Autosomal recessive

Infantile spasms-broad thumbs syndrome

ORPHA:3173Заболевание

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

ORPHA:263410Заболевание
Autosomal recessive

Infantile systemic hyalinosis

ORPHA:2176Клин. подтип
Autosomal recessive

Infantile-onset X-linked spinal muscular atrophy

ORPHA:1145Заболевание
X-linked recessive

Infantile-onset ascending hereditary spastic paralysis

ORPHA:293168Заболевание
Autosomal recessive

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

ORPHA:284332Заболевание
Autosomal recessive

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

ORPHA:457205Заболевание
Autosomal recessive

Infantile-onset generalized dyskinesia with orofacial involvement

ORPHA:494526Заболевание
Autosomal recessive

Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome

ORPHA:714423Заболевание
Autosomal dominant

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

ORPHA:391316Заболевание
Autosomal recessive

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

ORPHA:500062Заболевание
Autosomal recessive

Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

ORPHA:572428Заболевание
Autosomal dominant

Infantile-onset spinocerebellar ataxia

ORPHA:1186Заболевание
Autosomal recessive

Infection-related hemolytic uremic syndrome

ORPHA:544482Заболевание
Not applicable

Infectious anterior uveitis

ORPHA:279922Заболевание

Infectious panuveitis

ORPHA:279925Заболевание

Infectious posterior uveitis

ORPHA:279919Заболевание

Infective dermatitis associated with HTLV-1

ORPHA:289347Заболевание
Not applicable

Infective endocarditis

ORPHA:570762Заболевание

Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome

ORPHA:714472Заболевание
Autosomal dominant