MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Acalvaria

ORPHA:945Malform.
Not applicable

Achalasia-microcephaly syndrome

ORPHA:929Malform.
Autosomal recessive

Acitretin/etretinate embryopathy

ORPHA:40366Malform.
Not applicable

Acro-renal-mandibular syndrome

ORPHA:958Malform.
Autosomal recessive

Acro-renal-ocular syndrome

ORPHA:959Malform.
Autosomal dominant

Acrocallosal syndrome

ORPHA:36Malform.
Autosomal recessive

Acrocapitofemoral dysplasia

ORPHA:63446Malform.
Autosomal recessive

Acrocardiofacial syndrome

ORPHA:2008Malform.
Autosomal recessive

Acrocephalopolydactyly

ORPHA:221054Malform.
Autosomal recessive

Acrocraniofacial dysostosis

ORPHA:949Malform.
Autosomal recessive

Acrodysostosis

ORPHA:950Malform.
Autosomal dominant

Acrodysplasia scoliosis

ORPHA:2956Malform.

Acrofacial dysostosis, Catania type

ORPHA:1786Malform.
Autosomal dominant, X-linked dominant

Acrofacial dysostosis, Kennedy-Teebi type

ORPHA:64542Malform.
Autosomal recessive

Acrofacial dysostosis, Palagonia type

ORPHA:1787Malform.
Unknown

Acrofacial dysostosis, Rodríguez type

ORPHA:1788Malform.
Autosomal dominant, Autosomal recessive

Acrofacial dysostosis, Weyers type

ORPHA:952Malform.
Autosomal dominant

Acrofrontofacionasal dysostosis

ORPHA:1784Malform.
Autosomal recessive

Acrogeria

ORPHA:2500Malform.
Unknown

Acromelic frontonasal dysplasia

ORPHA:1827Malform.
Autosomal dominant

Acromesomelic dysplasia, Grebe type

ORPHA:2098Malform.
Autosomal recessive

Acromesomelic dysplasia, Hunter-Thompson type

ORPHA:968Malform.
Autosomal recessive

Acromesomelic dysplasia, Maroteaux type

ORPHA:40Malform.
Autosomal recessive

Acromicric dysplasia

ORPHA:969Malform.
Autosomal dominant