MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Multifocal sporadic venous malformation

ORPHA:714806Морф.
Not applicable

Multiloculated renal cyst

ORPHA:97366Морф.

Multiminicore myopathy

ORPHA:598Заболевание
Autosomal dominant, Autosomal recessive

Multinodular goiter-cystic kidney-polydactyly syndrome

ORPHA:2091Порок
Autosomal dominant

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

ORPHA:500135Порок
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency

ORPHA:26791Заболевание
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, mild type

ORPHA:394532Клин. подт.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

ORPHA:394529Клин. подт.
Autosomal recessive

Multiple benign circumferential skin creases on limbs

ORPHA:2505Заболевание
Autosomal dominant, Autosomal recessive

Multiple carboxylase deficiency

ORPHA:148Клин. гр.
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome

ORPHA:280633Порок
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

ORPHA:300496Порок
X-linked recessive

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

ORPHA:659904Порок
Autosomal dominant

Multiple endocrine neoplasia

ORPHA:276161Клин. гр.
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 1

ORPHA:652Заболевание
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 2

ORPHA:653Заболевание
Autosomal dominant

Multiple endocrine neoplasia type 2A

ORPHA:247698Клин. подт.
Autosomal dominant

Multiple endocrine neoplasia type 2B

ORPHA:247709Клин. подт.
Autosomal dominant

Multiple endocrine neoplasia type 4

ORPHA:276152Заболевание
Autosomal dominant, Not applicable

Multiple epiphyseal dysplasia

ORPHA:251Клин. гр.
Autosomal dominant, Autosomal recessive

Multiple epiphyseal dysplasia due to collagen 9 anomaly

ORPHA:166002Заболевание
Autosomal dominant

Multiple epiphyseal dysplasia type 1

ORPHA:93308Заболевание
Autosomal dominant

Multiple epiphyseal dysplasia type 4

ORPHA:93307Заболевание
Autosomal recessive

Multiple epiphyseal dysplasia type 5

ORPHA:93311Заболевание
Autosomal dominant