MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Hereditary breast cancer

ORPHA:227535Kr.
Autosomal dominant, Multigenic/multifactorial

Hereditary bullous dystrophy, macular type

ORPHA:1867Kr.
X-linked recessive

Hereditary butyrylcholinesterase deficiency

ORPHA:132Kr.
Autosomal recessive

Hereditary cerebral amyloid angiopathy

ORPHA:85458Kr.
Autosomal dominant

Hereditary clear cell renal cell carcinoma

ORPHA:422526Kr.
Unknown

Hereditary combined deficiency of vitamin K-dependent clotting factors

ORPHA:98434Kr.
Autosomal recessive

Hereditary continuous muscle fiber activity

ORPHA:972Kr.
Autosomal dominant

Hereditary coproporphyria

ORPHA:79273Kr.
Autosomal dominant

Hereditary cryohydrocytosis with normal stomatin

ORPHA:398088Kr.
Autosomal dominant

Hereditary cryohydrocytosis with reduced stomatin

ORPHA:168577Kr.
Autosomal dominant

Hereditary diffuse gastric cancer

ORPHA:26106Kr.
Autosomal dominant

Hereditary elliptocytosis

ORPHA:288Kr.
Autosomal dominant, Autosomal recessive

Hereditary episodic ataxia

ORPHA:211062Kat.

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

ORPHA:221043Kr.
Autosomal dominant

Hereditary folate malabsorption

ORPHA:90045Kr.
Autosomal recessive

Hereditary fructose intolerance

ORPHA:469Kr.
Autosomal recessive

Hereditary geniospasm

ORPHA:53372Kr.
Autosomal dominant

Hereditary gingival fibromatosis

ORPHA:2024Malf.
Autosomal dominant

Hereditary hemorrhagic telangiectasia

ORPHA:774Kr.
Autosomal dominant

Hereditary hypercarotenemia and vitamin A deficiency

ORPHA:199285Kr.
Autosomal dominant

Hereditary hyperekplexia

ORPHA:3197Kr.
Autosomal dominant, Autosomal recessive

Hereditary hyperferritinemia-cataract syndrome

ORPHA:163Kr.
Autosomal dominant

Hereditary hypophosphatemic rickets with hypercalciuria

ORPHA:157215Kr.
Autosomal dominant, Autosomal recessive

Hereditary hypotrichosis with recurrent skin vesicles

ORPHA:217407Kr.
Autosomal recessive