MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Synaptic congenital myasthenic syndrome

ORPHA:98915Этио. под.
Autosomal recessive

Syndactyly type 1

ORPHA:93402Морф.
Autosomal dominant

Syndactyly type 2

ORPHA:93403Морф.
Autosomal dominant

Syndactyly type 3

ORPHA:93404Морф.
Autosomal dominant

Syndactyly type 4

ORPHA:93405Морф.
Autosomal dominant

Syndactyly type 5

ORPHA:93406Морф.
Autosomal dominant

Syndactyly type 8

ORPHA:2498Морф.
Autosomal dominant, X-linked recessive

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

ORPHA:357332Мальф.
Autosomal recessive

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

ORPHA:294026Мальф.
Unknown

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259Мальф.

Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952Мальф.
X-linked dominant

Syndrome with woolly hair

ORPHA:434809Сан.

Syndromic X-linked intellectual disability 7

ORPHA:85274Мальф.
X-linked recessive

Syndromic autoimmune enteropathy due to LRBA deficiency

ORPHA:445018Ауру
Autosomal recessive

Syndromic congenital sodium diarrhea

ORPHA:563708Ауру
Autosomal recessive

Syndromic hypothyroidism

ORPHA:177107Сан.

Syndromic microphthalmia type 5

ORPHA:178364Мальф.
Autosomal dominant

Syndromic multisystem autoimmune disease due to Itch deficiency

ORPHA:228426Ауру
Autosomal recessive

Syndromic orbital border hypoplasia

ORPHA:98606Мальф.

Syndromic recessive X-linked ichthyosis

ORPHA:281090Ауру
X-linked recessive

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

ORPHA:457223Ауру
Autosomal recessive

Syngnathia-cleft palate syndrome

ORPHA:3263Мальф.

Synovial sarcoma

ORPHA:3273Ауру
Not applicable

Synpolydactyly type 1

ORPHA:295195Клин. под.
Autosomal dominant