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

Mesomelic dysplasia, Nievergelt type

ORPHA:2633Malf.
Autosomal dominant

Mesomelic dysplasia, Savarirayan type

ORPHA:85170Malf.
Not applicable

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603Malf.

Metachondromatosis

ORPHA:2499Malf.
Autosomal dominant

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502Malf.
Autosomal recessive

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188Malf.

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504Malf.
Autosomal dominant

Methimazole embryofetopathy

ORPHA:1923Malf.
Not applicable

Micro syndrome

ORPHA:2510Malf.
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Malf.
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Malf.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Malf.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Malf.
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Malf.
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Malf.
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Malf.

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Malf.

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Malf.
Autosomal recessive

Microcephaly-albinism-digital anomalies syndrome

ORPHA:2513Malf.
Unknown

Microcephaly-brachydactyly-kyphoscoliosis syndrome

ORPHA:3433Malf.
Autosomal recessive

Microcephaly-brain defect-spasticity-hypernatremia syndrome

ORPHA:2523Malf.

Microcephaly-capillary malformation syndrome

ORPHA:294016Malf.
Autosomal recessive

Microcephaly-cardiac defect-lung malsegmentation syndrome

ORPHA:2516Malf.
Autosomal recessive

Microcephaly-cardiomyopathy syndrome

ORPHA:2515Malf.
Autosomal recessive