MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
303 diseases matched (Morph.) Reset

Pleuro-pericardial cyst

ORPHA:99131Morph.
Not applicable

Polydactyly of a biphalangeal thumb and/or hallux

ORPHA:93339Morph.
Autosomal dominant

Polydactyly of a triphalangeal thumb

ORPHA:93336Morph.
Autosomal dominant

Polydactyly of an index finger

ORPHA:93337Morph.
Autosomal dominant

Polysyndactyly

ORPHA:93338Morph.
Autosomal dominant

Pontine tegmental cap dysplasia

ORPHA:269229Morph.
Not applicable

Postaxial polydactyly type A

ORPHA:93334Morph.
Autosomal recessive

Postaxial polydactyly type B

ORPHA:93335Morph.
Autosomal dominant

Posterior urethral valve

ORPHA:93110Morph.
Autosomal recessive, Not applicable, X-linked recessive

Primary basilar invagination

ORPHA:2285Morph.
Autosomal dominant

Primary pulmonary hypoplasia

ORPHA:2257Morph.

Primary tethered cord syndrome

ORPHA:268861Morph.

Pulmonary arteriovenous malformation

ORPHA:2038Morph.
Multigenic/multifactorial, Unknown

Pulmonary atresia with ventricular septal defect

ORPHA:1207Morph.

Pulmonary atresia-intact ventricular septum syndrome

ORPHA:1208Morph.

Renal agenesis

ORPHA:411709Morph.
Autosomal dominant, Autosomal recessive

Renal dysplasia

ORPHA:93108Morph.
Autosomal dominant, Not applicable

Renal hypoplasia

ORPHA:93101Morph.
Autosomal dominant, Not applicable

Retroperitoneal arteriovenous malformation

ORPHA:714726Morph.
Not applicable

Rieger anomaly

ORPHA:91483Morph.
Autosomal dominant

Situs ambiguus

ORPHA:157769Morph.
Multigenic/multifactorial

Situs inversus totalis

ORPHA:101063Morph.
Autosomal dominant, Autosomal recessive, Not applicable

Small bowel atresia

ORPHA:1201Morph.
Autosomal recessive, Not applicable, Unknown

Spinal cord arteriovenous malformation

ORPHA:715284Morph.
Not applicable