MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Indolent systemic mastocytosis

ORPHA:98848Заболевание
Not applicable

Infantile LAD-like disease due to RAC2 deficiency

ORPHA:183707Заболевание
Autosomal dominant

Infantile Refsum disease

ORPHA:772Заболевание
Autosomal recessive

Infantile apnea

ORPHA:70590Заболевание

Infantile cerebellar-retinal degeneration

ORPHA:313850Заболевание
Autosomal recessive

Infantile choroidocerebral calcification syndrome

ORPHA:1313Заболевание
Autosomal recessive

Infantile digital fibromatosis

ORPHA:199267Заболевание

Infantile dystonia-parkinsonism

ORPHA:238455Заболевание
Autosomal recessive

Infantile epileptic spasms syndrome

ORPHA:697160Заболевание
Autosomal dominant, Autosomal recessive, X-linked dominant

Infantile epileptic-dyskinetic encephalopathy

ORPHA:364063Заболевание
X-linked recessive

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

ORPHA:352563Заболевание
Autosomal recessive

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

ORPHA:522077Заболевание
Autosomal dominant

Infantile inflammatory bowel disease with neurological involvement

ORPHA:565788Заболевание
Autosomal recessive

Infantile mercury poisoning

ORPHA:247165Заболевание
Not applicable

Infantile multisystem neurologic-endocrine-pancreatic disease

ORPHA:456312Заболевание
Autosomal recessive

Infantile myofibromatosis

ORPHA:2591Заболевание
Autosomal dominant, Autosomal recessive, Not applicable

Infantile neuroaxonal dystrophy

ORPHA:35069Заболевание
Autosomal recessive

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 spasms-broad thumbs syndrome

ORPHA:3173Заболевание

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

ORPHA:263410Заболевание
Autosomal recessive

Infantile-onset X-linked spinal muscular atrophy

ORPHA:1145Заболевание
X-linked recessive

Infantile-onset ascending hereditary spastic paralysis

ORPHA:293168Заболевание
Autosomal recessive