MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Synaptic congenital myasthenic syndrome

ORPHA:98915Ätl. subt.
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:357332Malf.
Autosomal recessive

Syndactyly-nystagmus syndrome due to 2q31.1 microduplication

ORPHA:294026Malf.
Unknown

Syndactyly-polydactyly-ear lobe syndrome

ORPHA:3259Malf.

Syndactyly-telecanthus-anogenital and renal malformations syndrome

ORPHA:140952Malf.
X-linked dominant

Syndrome with woolly hair

ORPHA:434809Kat.

Syndromic X-linked intellectual disability 7

ORPHA:85274Malf.
X-linked recessive

Syndromic autoimmune enteropathy due to LRBA deficiency

ORPHA:445018Kr.
Autosomal recessive

Syndromic congenital sodium diarrhea

ORPHA:563708Kr.
Autosomal recessive

Syndromic hypothyroidism

ORPHA:177107Kat.

Syndromic microphthalmia type 5

ORPHA:178364Malf.
Autosomal dominant

Syndromic multisystem autoimmune disease due to Itch deficiency

ORPHA:228426Kr.
Autosomal recessive

Syndromic orbital border hypoplasia

ORPHA:98606Malf.

Syndromic recessive X-linked ichthyosis

ORPHA:281090Kr.
X-linked recessive

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

ORPHA:457223Kr.
Autosomal recessive

Syngnathia-cleft palate syndrome

ORPHA:3263Malf.

Synovial sarcoma

ORPHA:3273Kr.
Not applicable

Synpolydactyly type 1

ORPHA:295195Kl. subt.
Autosomal dominant