MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Annular lichen planus

ORPHA:254424Kr.

Annular pancreas

ORPHA:675Morph.
Autosomal dominant, Not applicable

Anoctamin-5-related limb-girdle muscular dystrophy R12

ORPHA:206549Kr.
Autosomal recessive

Anonychia congenita totalis

ORPHA:94150Kl. subt.
Autosomal recessive

Anonychia with flexural pigmentation

ORPHA:69125Malf.
Autosomal dominant

Anonychia-microcephaly syndrome

ORPHA:1094Malf.
Autosomal recessive

Anonychia-onychodystrophy syndrome

ORPHA:90390Kl. subt.
Autosomal dominant, Autosomal recessive

Anophthalmia plus syndrome

ORPHA:1104Malf.
Autosomal recessive

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

ORPHA:1101Malf.
Autosomal recessive

Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:77298Malf.
Autosomal dominant, Not applicable

Anotia

ORPHA:93976Morph.

Antecubital pterygium syndrome

ORPHA:2987Malf.
Autosomal dominant

Antenatal multiminicore disease with arthrogryposis multiplex congenita

ORPHA:178148Kl. subt.

Anterior cutaneous nerve entrapment syndrome

ORPHA:51890Kr.
Not applicable

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

ORPHA:562559Malf.
Autosomal recessive

Anterior segment developmental anomaly

ORPHA:88632Kat.
Autosomal dominant

Anterior urethral valve

ORPHA:435372Morph.
Not applicable

Anterior uveitis

ORPHA:280886Kat.
Not applicable

Anti-glomerular basement membrane disease

ORPHA:375Kr.
Not applicable

Anti-neutrophil cytoplasmic antibody-associated vasculitis

ORPHA:156152Kl. gruppe

Anti-p200 pemphigoid

ORPHA:454710Kr.
Not applicable

Antisynthetase syndrome

ORPHA:81Kr.
Not applicable

Antley-Bixler syndrome

ORPHA:83Malf.
Autosomal dominant, Autosomal recessive

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

ORPHA:63269Kl. subt.
Autosomal recessive