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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Mesomelic dysplasia, Nievergelt type

ORPHA:2633Порок
Autosomal dominant

Mesomelic dysplasia, Savarirayan type

ORPHA:85170Порок
Not applicable

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603Порок

Metachondromatosis

ORPHA:2499Порок
Autosomal dominant

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502Порок
Autosomal recessive

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188Порок

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504Порок
Autosomal dominant

Methimazole embryofetopathy

ORPHA:1923Порок
Not applicable

Micro syndrome

ORPHA:2510Порок
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Порок
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Порок
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Порок
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Порок
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Порок
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Порок
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Порок

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Порок

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Порок
Autosomal recessive

Microcephaly-albinism-digital anomalies syndrome

ORPHA:2513Порок
Unknown

Microcephaly-brachydactyly-kyphoscoliosis syndrome

ORPHA:3433Порок
Autosomal recessive

Microcephaly-brain defect-spasticity-hypernatremia syndrome

ORPHA:2523Порок

Microcephaly-capillary malformation syndrome

ORPHA:294016Порок
Autosomal recessive

Microcephaly-cardiac defect-lung malsegmentation syndrome

ORPHA:2516Порок
Autosomal recessive

Microcephaly-cardiomyopathy syndrome

ORPHA:2515Порок
Autosomal recessive