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

Pontocerebellar hypoplasia type 3

ORPHA:97249Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Malf.
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Malf.
Autosomal recessive

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Malf.

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Malf.
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Malf.

Postaxial acrofacial dysostosis

ORPHA:246Malf.
Autosomal recessive

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

ORPHA:420584Malf.
Autosomal dominant

Postaxial polydactyly-dental and vertebral anomalies syndrome

ORPHA:2916Malf.

Postaxial tetramelic oligodactyly

ORPHA:2730Malf.

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

ORPHA:2064Malf.
Autosomal dominant

Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome

ORPHA:572013Malf.
Autosomal dominant

Potocki-Shaffer syndrome

ORPHA:52022Malf.
Unknown

Preaxial polydactyly-colobomata-intellectual disability syndrome

ORPHA:2921Malf.
Autosomal recessive

Primary laryngeal lymphangioma

ORPHA:137926Malf.

Proboscis lateralis

ORPHA:141099Malf.
Not applicable

Progeria-short stature-pigmented nevi syndrome

ORPHA:2959Malf.
Unknown

Progressive deafness with stapes fixation

ORPHA:3235Malf.
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Malf.
Autosomal recessive

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Malf.
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Malf.
Autosomal dominant