MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Multifocal sporadic venous malformation

ORPHA:714806Морф.
Not applicable

Multiloculated renal cyst

ORPHA:97366Морф.

Multiminicore myopathy

ORPHA:598Ауру
Autosomal dominant, Autosomal recessive

Multinodular goiter-cystic kidney-polydactyly syndrome

ORPHA:2091Мальф.
Autosomal dominant

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

ORPHA:500135Мальф.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency

ORPHA:26791Ауру
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, mild type

ORPHA:394532Клин. под.
Autosomal recessive

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

ORPHA:394529Клин. под.
Autosomal recessive

Multiple benign circumferential skin creases on limbs

ORPHA:2505Ауру
Autosomal dominant, Autosomal recessive

Multiple carboxylase deficiency

ORPHA:148Клин. топ
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome

ORPHA:280633Мальф.
Autosomal recessive

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

ORPHA:300496Мальф.
X-linked recessive

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

ORPHA:659904Мальф.
Autosomal dominant

Multiple endocrine neoplasia

ORPHA:276161Клин. топ
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 1

ORPHA:652Ауру
Autosomal dominant, Not applicable

Multiple endocrine neoplasia type 2

ORPHA:653Ауру
Autosomal dominant

Multiple endocrine neoplasia type 2A

ORPHA:247698Клин. под.
Autosomal dominant

Multiple endocrine neoplasia type 2B

ORPHA:247709Клин. под.
Autosomal dominant

Multiple endocrine neoplasia type 4

ORPHA:276152Ауру
Autosomal dominant, Not applicable

Multiple epiphyseal dysplasia

ORPHA:251Клин. топ
Autosomal dominant, Autosomal recessive

Multiple epiphyseal dysplasia due to collagen 9 anomaly

ORPHA:166002Ауру
Autosomal dominant

Multiple epiphyseal dysplasia type 1

ORPHA:93308Ауру
Autosomal dominant

Multiple epiphyseal dysplasia type 4

ORPHA:93307Ауру
Autosomal recessive

Multiple epiphyseal dysplasia type 5

ORPHA:93311Ауру
Autosomal dominant