MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Holoprosencephaly-caudal dysgenesis syndrome

ORPHA:2165Malf.

Holoprosencephaly-craniosynostosis syndrome

ORPHA:2163Malf.

Holoprosencephaly-postaxial polydactyly syndrome

ORPHA:2166Malf.
Autosomal recessive

Holoprosencephaly-radial heart renal anomalies syndrome

ORPHA:3186Malf.

Holt-Oram syndrome

ORPHA:392Malf.
Autosomal dominant

Holzgreve syndrome

ORPHA:2167Malf.

Humerus trochlea aplasia

ORPHA:3383Malf.

Hunter-McAlpine syndrome

ORPHA:97340Malf.

Hydranencephaly

ORPHA:2177Malf.
Autosomal recessive, Unknown

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

Hyperandrogenism due to cortisone reductase deficiency

ORPHA:168588Malf.
Autosomal dominant, Autosomal recessive

Hypergonadotropic hypogonadism-cataract syndrome

ORPHA:2410Malf.
Autosomal recessive

Hyperostosis corticalis generalisata

ORPHA:3416Malf.
Autosomal dominant, Autosomal recessive

Hypertelorism-hypospadias-polysyndactyly syndrome

ORPHA:2211Malf.
Autosomal recessive

Hypertelorism-microtia-facial clefting syndrome

ORPHA:2213Malf.
Autosomal recessive

Hypertelorism-preauricular sinus-punctual pits-deafness syndrome

ORPHA:293958Malf.
Autosomal dominant

Hypertrichosis cubiti

ORPHA:2220Malf.
Autosomal dominant