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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Annular lichen planus

ORPHA:254424Disease

Annular pancreas

ORPHA:675Morph.
Autosomal dominant, Not applicable

Anoctamin-5-related limb-girdle muscular dystrophy R12

ORPHA:206549Disease
Autosomal recessive

Anonychia congenita totalis

ORPHA:94150Clin. sub.
Autosomal recessive

Anonychia with flexural pigmentation

ORPHA:69125Malform.
Autosomal dominant

Anonychia-microcephaly syndrome

ORPHA:1094Malform.
Autosomal recessive

Anonychia-onychodystrophy syndrome

ORPHA:90390Clin. sub.
Autosomal dominant, Autosomal recessive

Anophthalmia plus syndrome

ORPHA:1104Malform.
Autosomal recessive

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

ORPHA:1101Malform.
Autosomal recessive

Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:77298Malform.
Autosomal dominant, Not applicable

Anotia

ORPHA:93976Morph.

Antecubital pterygium syndrome

ORPHA:2987Malform.
Autosomal dominant

Antenatal multiminicore disease with arthrogryposis multiplex congenita

ORPHA:178148Clin. sub.

Anterior cutaneous nerve entrapment syndrome

ORPHA:51890Disease
Not applicable

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

ORPHA:562559Malform.
Autosomal recessive

Anterior segment developmental anomaly

ORPHA:88632Cat.
Autosomal dominant

Anterior urethral valve

ORPHA:435372Morph.
Not applicable

Anterior uveitis

ORPHA:280886Cat.
Not applicable

Anti-glomerular basement membrane disease

ORPHA:375Disease
Not applicable

Anti-neutrophil cytoplasmic antibody-associated vasculitis

ORPHA:156152Clin. grp.

Anti-p200 pemphigoid

ORPHA:454710Disease
Not applicable

Antisynthetase syndrome

ORPHA:81Disease
Not applicable

Antley-Bixler syndrome

ORPHA:83Malform.
Autosomal dominant, Autosomal recessive

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

ORPHA:63269Clin. sub.
Autosomal recessive