MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Hurler-Scheie syndrome

ORPHA:93476Kl. subt.
Autosomal recessive

Hutchinson-Gilford progeria syndrome

ORPHA:740Kr.
Autosomal dominant, Autosomal recessive

Hyaline fibromatosis syndrome

ORPHA:498474Kr.

Hyaluronidase deficiency

ORPHA:67041Kr.
Autosomal recessive

Hydatidiform mole

ORPHA:99927Kr.
Autosomal recessive, Not applicable

Hydranencephaly

ORPHA:2177Malf.
Autosomal recessive, Unknown

Hydroa vacciniforme

ORPHA:330058Kr.
Not applicable

Hydroa vacciniforme-like lymphoma

ORPHA:364039Kr.
Not applicable

Hydrocephalus with stenosis of the aqueduct of Sylvius

ORPHA:2182Kl. subt.
X-linked recessive

Hydrocephalus-blue sclerae-nephropathy syndrome

ORPHA:2186Malf.
Unknown

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

ORPHA:2180Malf.
Unknown

Hydrocephalus-obesity-hypogonadism syndrome

ORPHA:2183Malf.
X-linked recessive

Hydrocephaly-cerebellar agenesis syndrome

ORPHA:1397Malf.
X-linked recessive

Hydrocephaly-low insertion umbilicus syndrome

ORPHA:2184Malf.

Hydrocephaly-tall stature-joint laxity syndrome

ORPHA:2181Malf.
Autosomal recessive

Hydrolethalus

ORPHA:2189Malf.
Autosomal recessive

Hydrops fetalis

ORPHA:1041Malf.
Not applicable

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

ORPHA:528091Kr.

Hydroxykynureninuria

ORPHA:79155Kr.
Autosomal recessive

Hymenolepiasis

ORPHA:401Kr.
Not applicable

Hyper-IgM syndrome type 2

ORPHA:101089Kl. subt.
Autosomal recessive

Hyper-IgM syndrome type 3

ORPHA:101090Kl. subt.
Autosomal recessive

Hyper-IgM syndrome type 5

ORPHA:101092Kl. subt.
Autosomal recessive

Hyper-beta-alaninemia

ORPHA:309147Kr.