MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Pontocerebellar hypoplasia type 3

ORPHA:97249Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 4

ORPHA:166063Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 6

ORPHA:166073Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 7

ORPHA:284339Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 8

ORPHA:324569Malform.
Autosomal recessive

Pontocerebellar hypoplasia type 9

ORPHA:369920Malform.
Autosomal recessive

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

ORPHA:2941Malform.

Porencephaly-microcephaly-bilateral congenital cataract syndrome

ORPHA:306547Malform.
Autosomal recessive

Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

ORPHA:2703Malform.

Postaxial acrofacial dysostosis

ORPHA:246Malform.
Autosomal recessive

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

ORPHA:420584Malform.
Autosomal dominant

Postaxial polydactyly-dental and vertebral anomalies syndrome

ORPHA:2916Malform.

Postaxial tetramelic oligodactyly

ORPHA:2730Malform.

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

ORPHA:2064Malform.
Autosomal dominant

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

ORPHA:572013Malform.
Autosomal dominant

Potocki-Shaffer syndrome

ORPHA:52022Malform.
Unknown

Preaxial polydactyly-colobomata-intellectual disability syndrome

ORPHA:2921Malform.
Autosomal recessive

Primary laryngeal lymphangioma

ORPHA:137926Malform.

Proboscis lateralis

ORPHA:141099Malform.
Not applicable

Progeria-short stature-pigmented nevi syndrome

ORPHA:2959Malform.
Unknown

Progressive deafness with stapes fixation

ORPHA:3235Malform.
Autosomal recessive

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA:477814Malform.
Autosomal recessive

Progressive non-infectious anterior vertebral fusion

ORPHA:2062Malform.
Not applicable

Progressive osseous heteroplasia

ORPHA:2762Malform.
Autosomal dominant