MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Indolent systemic mastocytosis

ORPHA:98848Kr.
Not applicable

Infantile LAD-like disease due to RAC2 deficiency

ORPHA:183707Kr.
Autosomal dominant

Infantile Refsum disease

ORPHA:772Kr.
Autosomal recessive

Infantile apnea

ORPHA:70590Kr.

Infantile cerebellar-retinal degeneration

ORPHA:313850Kr.
Autosomal recessive

Infantile choroidocerebral calcification syndrome

ORPHA:1313Kr.
Autosomal recessive

Infantile digital fibromatosis

ORPHA:199267Kr.

Infantile dystonia-parkinsonism

ORPHA:238455Kr.
Autosomal recessive

Infantile epileptic spasms syndrome

ORPHA:697160Kr.
Autosomal dominant, Autosomal recessive, X-linked dominant

Infantile epileptic-dyskinetic encephalopathy

ORPHA:364063Kr.
X-linked recessive

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

ORPHA:352563Kr.
Autosomal recessive

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

ORPHA:522077Kr.
Autosomal dominant

Infantile inflammatory bowel disease with neurological involvement

ORPHA:565788Kr.
Autosomal recessive

Infantile mercury poisoning

ORPHA:247165Kr.
Not applicable

Infantile multisystem neurologic-endocrine-pancreatic disease

ORPHA:456312Kr.
Autosomal recessive

Infantile myofibromatosis

ORPHA:2591Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Infantile neuroaxonal dystrophy

ORPHA:35069Kr.
Autosomal recessive

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

ORPHA:641353Kr.

Infantile neurovisceral acid sphingomyelinase deficiency

ORPHA:77292Kr.
Autosomal recessive

Infantile onset panniculitis with uveitis and systemic granulomatosis

ORPHA:251304Kr.
Not applicable

Infantile spasms-broad thumbs syndrome

ORPHA:3173Kr.

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

ORPHA:263410Kr.
Autosomal recessive

Infantile-onset X-linked spinal muscular atrophy

ORPHA:1145Kr.
X-linked recessive

Infantile-onset ascending hereditary spastic paralysis

ORPHA:293168Kr.
Autosomal recessive