MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Null syndrome

ORPHA:280234Kl. subt.
X-linked recessive

O'Sullivan-McLeod syndrome

ORPHA:99965Kr.

OBSOLETE: Cleft lip-retinopathy syndrome

ORPHA:1995Malf.

OBSOLETE: Primary intraocular lymphoma

ORPHA:279904Kr.
Not applicable

OBSOLETE: X-linked retinal dysplasia

ORPHA:1852Kr.

OSLAM syndrome

ORPHA:2760Malf.
Autosomal dominant

Obesity due to CEP19 deficiency

ORPHA:397615Ätl. subt.
Autosomal recessive

Obesity due to SIM1 deficiency

ORPHA:369873Ätl. subt.
Autosomal recessive

Obesity due to congenital leptin deficiency

ORPHA:66628Ätl. subt.
Autosomal recessive

Obesity due to leptin receptor gene deficiency

ORPHA:179494Ätl. subt.
Autosomal recessive

Obesity due to melanocortin 4 receptor deficiency

ORPHA:71529Ätl. subt.
Autosomal dominant, Autosomal recessive

Obesity due to pro-opiomelanocortin deficiency

ORPHA:71526Ätl. subt.
Autosomal recessive

Obesity due to prohormone convertase I deficiency

ORPHA:71528Ätl. subt.
Autosomal recessive

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

ORPHA:88643Kr.
Unknown

Oblique facial cleft

ORPHA:141253Kl. gruppe

Occipital encephalocele

ORPHA:268823Kl. subt.
Autosomal dominant

Occipital horn syndrome

ORPHA:198Kr.
X-linked recessive

Occipital pachygyria and polymicrogyria

ORPHA:280640Malf.
Autosomal recessive

Occult macular dystrophy

ORPHA:247834Kr.
Autosomal dominant

Ocular albinism with late-onset sensorineural deafness

ORPHA:1000Kr.
X-linked recessive

Ocular anomalies-axonal neuropathy-developmental delay syndrome

ORPHA:496790Kr.
Autosomal dominant

Ocular cystinosis

ORPHA:411641Kl. subt.
Autosomal recessive

Ocular motor apraxia, Cogan type

ORPHA:1125Kr.
Autosomal recessive

Ocular surface squamous neoplasia

ORPHA:659744Kr.