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

Mesomelic dysplasia, Nievergelt type

ORPHA:2633Malform.
Autosomal dominant

Mesomelic dysplasia, Savarirayan type

ORPHA:85170Malform.
Not applicable

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603Malform.

Metachondromatosis

ORPHA:2499Malform.
Autosomal dominant

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502Malform.
Autosomal recessive

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188Malform.

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504Malform.
Autosomal dominant

Methimazole embryofetopathy

ORPHA:1923Malform.
Not applicable

Micro syndrome

ORPHA:2510Malform.
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Malform.
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Malform.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Malform.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Malform.
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Malform.
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Malform.
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Malform.

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Malform.

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Malform.
Autosomal recessive

Microcephaly-albinism-digital anomalies syndrome

ORPHA:2513Malform.
Unknown

Microcephaly-brachydactyly-kyphoscoliosis syndrome

ORPHA:3433Malform.
Autosomal recessive

Microcephaly-brain defect-spasticity-hypernatremia syndrome

ORPHA:2523Malform.

Microcephaly-capillary malformation syndrome

ORPHA:294016Malform.
Autosomal recessive

Microcephaly-cardiac defect-lung malsegmentation syndrome

ORPHA:2516Malform.
Autosomal recessive

Microcephaly-cardiomyopathy syndrome

ORPHA:2515Malform.
Autosomal recessive