MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Aniridia-cerebellar ataxia-intellectual disability syndrome

ORPHA:1065Malf.
Autosomal dominant, Autosomal recessive, Not applicable

Aniridia-intellectual disability syndrome

ORPHA:1068Malf.
Autosomal dominant

Aniridia-ptosis-intellectual disability-familial obesity syndrome

ORPHA:1067Malf.
Autosomal dominant

Aniridia-renal agenesis-psychomotor retardation syndrome

ORPHA:1064Malf.
Autosomal recessive

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

ORPHA:1071Malf.
Autosomal dominant

Ankylosing vertebral hyperostosis with tylosis

ORPHA:2206Malf.
Autosomal dominant

Anonychia with flexural pigmentation

ORPHA:69125Malf.
Autosomal dominant

Anonychia-microcephaly syndrome

ORPHA:1094Malf.
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

Antecubital pterygium syndrome

ORPHA:2987Malf.
Autosomal dominant

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

ORPHA:562559Malf.
Autosomal recessive

Antley-Bixler syndrome

ORPHA:83Malf.
Autosomal dominant, Autosomal recessive

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

ORPHA:1110Malf.
Autosomal dominant

Apert syndrome

ORPHA:87Malf.
Autosomal dominant

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

ORPHA:1112Malf.
Autosomal recessive

Aphalangy-syndactyly-microcephaly syndrome

ORPHA:1113Malf.
Autosomal dominant

Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

ORPHA:324540Malf.
Autosomal recessive

Aplasia cutis congenita

ORPHA:1114Malf.
Autosomal dominant, Autosomal recessive, Not applicable

Aprosencephaly cerebellar dysgenesis

ORPHA:1126Malf.

Arachnodactyly-abnormal ossification-intellectual disability syndrome

ORPHA:1129Malf.
Unknown

Arachnodactyly-intellectual disability-dysmorphism syndrome

ORPHA:1130Malf.
Unknown

Arterial dissection-lentiginosis syndrome

ORPHA:1682Malf.
Unknown