MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Null syndrome

ORPHA:280234Клин. подтип
X-linked recessive

O'Sullivan-McLeod syndrome

ORPHA:99965Заболевание

OBSOLETE: Cleft lip-retinopathy syndrome

ORPHA:1995Мальформация

OBSOLETE: Primary intraocular lymphoma

ORPHA:279904Заболевание
Not applicable

OBSOLETE: X-linked retinal dysplasia

ORPHA:1852Заболевание

OSLAM syndrome

ORPHA:2760Мальформация
Autosomal dominant

Obesity due to CEP19 deficiency

ORPHA:397615Этиол. подтип
Autosomal recessive

Obesity due to SIM1 deficiency

ORPHA:369873Этиол. подтип
Autosomal recessive

Obesity due to congenital leptin deficiency

ORPHA:66628Этиол. подтип
Autosomal recessive

Obesity due to leptin receptor gene deficiency

ORPHA:179494Этиол. подтип
Autosomal recessive

Obesity due to melanocortin 4 receptor deficiency

ORPHA:71529Этиол. подтип
Autosomal dominant, Autosomal recessive

Obesity due to pro-opiomelanocortin deficiency

ORPHA:71526Этиол. подтип
Autosomal recessive

Obesity due to prohormone convertase I deficiency

ORPHA:71528Этиол. подтип
Autosomal recessive

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

ORPHA:88643Заболевание
Unknown

Oblique facial cleft

ORPHA:141253Клин. группа

Occipital encephalocele

ORPHA:268823Клин. подтип
Autosomal dominant

Occipital horn syndrome

ORPHA:198Заболевание
X-linked recessive

Occipital pachygyria and polymicrogyria

ORPHA:280640Мальформация
Autosomal recessive

Occult macular dystrophy

ORPHA:247834Заболевание
Autosomal dominant

Ocular albinism with late-onset sensorineural deafness

ORPHA:1000Заболевание
X-linked recessive

Ocular anomalies-axonal neuropathy-developmental delay syndrome

ORPHA:496790Заболевание
Autosomal dominant

Ocular cystinosis

ORPHA:411641Клин. подтип
Autosomal recessive

Ocular motor apraxia, Cogan type

ORPHA:1125Заболевание
Autosomal recessive

Ocular surface squamous neoplasia

ORPHA:659744Заболевание