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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Annular lichen planus

ORPHA:254424Заболевание

Annular pancreas

ORPHA:675Морф.
Autosomal dominant, Not applicable

Anoctamin-5-related limb-girdle muscular dystrophy R12

ORPHA:206549Заболевание
Autosomal recessive

Anonychia congenita totalis

ORPHA:94150Клин. подт.
Autosomal recessive

Anonychia with flexural pigmentation

ORPHA:69125Порок
Autosomal dominant

Anonychia-microcephaly syndrome

ORPHA:1094Порок
Autosomal recessive

Anonychia-onychodystrophy syndrome

ORPHA:90390Клин. подт.
Autosomal dominant, Autosomal recessive

Anophthalmia plus syndrome

ORPHA:1104Порок
Autosomal recessive

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

ORPHA:1101Порок
Autosomal recessive

Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:77298Порок
Autosomal dominant, Not applicable

Anotia

ORPHA:93976Морф.

Antecubital pterygium syndrome

ORPHA:2987Порок
Autosomal dominant

Antenatal multiminicore disease with arthrogryposis multiplex congenita

ORPHA:178148Клин. подт.

Anterior cutaneous nerve entrapment syndrome

ORPHA:51890Заболевание
Not applicable

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

ORPHA:562559Порок
Autosomal recessive

Anterior segment developmental anomaly

ORPHA:88632Кат.
Autosomal dominant

Anterior urethral valve

ORPHA:435372Морф.
Not applicable

Anterior uveitis

ORPHA:280886Кат.
Not applicable

Anti-glomerular basement membrane disease

ORPHA:375Заболевание
Not applicable

Anti-neutrophil cytoplasmic antibody-associated vasculitis

ORPHA:156152Клин. гр.

Anti-p200 pemphigoid

ORPHA:454710Заболевание
Not applicable

Antisynthetase syndrome

ORPHA:81Заболевание
Not applicable

Antley-Bixler syndrome

ORPHA:83Порок
Autosomal dominant, Autosomal recessive

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

ORPHA:63269Клин. подт.
Autosomal recessive