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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Synaptic congenital myasthenic syndrome

ORPHA:98915Etio. sub.
Autosomal recessive

Syndactyly type 1

ORPHA:93402Morph.
Autosomal dominant

Syndactyly type 2

ORPHA:93403Morph.
Autosomal dominant

Syndactyly type 3

ORPHA:93404Morph.
Autosomal dominant

Syndactyly type 4

ORPHA:93405Morph.
Autosomal dominant

Syndactyly type 5

ORPHA:93406Morph.
Autosomal dominant

Syndactyly type 8

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

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

ORPHA:357332Malform.
Autosomal recessive

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

ORPHA:294026Malform.
Unknown

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259Malform.

Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952Malform.
X-linked dominant

Syndrome with woolly hair

ORPHA:434809Cat.

Syndromic X-linked intellectual disability 7

ORPHA:85274Malform.
X-linked recessive

Syndromic autoimmune enteropathy due to LRBA deficiency

ORPHA:445018Disease
Autosomal recessive

Syndromic congenital sodium diarrhea

ORPHA:563708Disease
Autosomal recessive

Syndromic hypothyroidism

ORPHA:177107Cat.

Syndromic microphthalmia type 5

ORPHA:178364Malform.
Autosomal dominant

Syndromic multisystem autoimmune disease due to Itch deficiency

ORPHA:228426Disease
Autosomal recessive

Syndromic orbital border hypoplasia

ORPHA:98606Malform.

Syndromic recessive X-linked ichthyosis

ORPHA:281090Disease
X-linked recessive

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

ORPHA:457223Disease
Autosomal recessive

Syngnathia-cleft palate syndrome

ORPHA:3263Malform.

Synovial sarcoma

ORPHA:3273Disease
Not applicable

Synpolydactyly type 1

ORPHA:295195Clin. sub.
Autosomal dominant