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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Null syndrome

ORPHA:280234Clin. sub.
X-linked recessive

O'Sullivan-McLeod syndrome

ORPHA:99965Disease

OBSOLETE: Cleft lip-retinopathy syndrome

ORPHA:1995Malform.

OBSOLETE: Primary intraocular lymphoma

ORPHA:279904Disease
Not applicable

OBSOLETE: X-linked retinal dysplasia

ORPHA:1852Disease

OSLAM syndrome

ORPHA:2760Malform.
Autosomal dominant

Obesity due to CEP19 deficiency

ORPHA:397615Etio. sub.
Autosomal recessive

Obesity due to SIM1 deficiency

ORPHA:369873Etio. sub.
Autosomal recessive

Obesity due to congenital leptin deficiency

ORPHA:66628Etio. sub.
Autosomal recessive

Obesity due to leptin receptor gene deficiency

ORPHA:179494Etio. sub.
Autosomal recessive

Obesity due to melanocortin 4 receptor deficiency

ORPHA:71529Etio. sub.
Autosomal dominant, Autosomal recessive

Obesity due to pro-opiomelanocortin deficiency

ORPHA:71526Etio. sub.
Autosomal recessive

Obesity due to prohormone convertase I deficiency

ORPHA:71528Etio. sub.
Autosomal recessive

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

ORPHA:88643Disease
Unknown

Oblique facial cleft

ORPHA:141253Clin. grp.

Occipital encephalocele

ORPHA:268823Clin. sub.
Autosomal dominant

Occipital horn syndrome

ORPHA:198Disease
X-linked recessive

Occipital pachygyria and polymicrogyria

ORPHA:280640Malform.
Autosomal recessive

Occult macular dystrophy

ORPHA:247834Disease
Autosomal dominant

Ocular albinism with late-onset sensorineural deafness

ORPHA:1000Disease
X-linked recessive

Ocular anomalies-axonal neuropathy-developmental delay syndrome

ORPHA:496790Disease
Autosomal dominant

Ocular cystinosis

ORPHA:411641Clin. sub.
Autosomal recessive

Ocular motor apraxia, Cogan type

ORPHA:1125Disease
Autosomal recessive

Ocular surface squamous neoplasia

ORPHA:659744Disease